ALS
Characterized by the presence of BOTH upper and lower motor neuron lesions UMN lesions symptoms lesions symptoms include: spasticity, bulbar symptoms, and HYPERreflexia LMN lesion symptoms lesion symptoms include: fasciculations, HYPOreflexia, atrophy NOTE: weakness and muscle wasting can occur in both upper and lower motor neuron lesions
Beta-blocker overdose hypotension , and diffuse wheezing Presentation is: bradycardia, AV block, hypotension, o Hypotension and bradycardia can lead to cardiogenic shock o Other effects include effects include hypoglycemia, bronchospasm (via blockade), and neurological dysfunction (e.g. dysfunction (e.g. delirium, seizures) st 1 step is step is to secure airway and airway and give isotonic fluid bolus and IV atropine If refractory, next step = IV glucagon cAMP and is effective in BOTH ß-blocker and o Glucagon will increase intracellular cAMP and Ca-channel blocker toxicity
Hordeolum (stye) inflammatory disorder of the eyelash follicle or tear gland that presents as an An acute inflammatory disorder erythematous, tender nodule at nodule at the lid margin o aureus but it can be sterile Often due to an infection with S. aureus but Similar process arising in the meibomian gland = internal o Presents as a tender nodule visible at the palpebral conjunctiva but more rare Tx is with a warm compress, compress, will accelerate process of rupture weeks) , can do incision & curettage o For those with persistent hordeolum (>1-2 weeks),
MSK paraneoplastic syndromes Myasthenia gravis receptor in the postsynaptic membrane o Involved site is the ACh receptor in weakness (ocular, bulbar, facial) o Symptoms include fluctuating muscle weakness (ocular, o Also frequently associated with thymoma Lambert-Eaton syndrome membrane of voltage-gated voltage-gated Ca2+ channels o Involved site is the presynaptic membrane of Leads to decreased ACh release and subsequent weakness weakness as well as CN involvement and o Patients will have proximal muscle weakness as autonomic dysfunction (e.g. dysfunction (e.g. dry mouth) Will also have diminished or absent deep-tendon reflexes o cases are associated with malignancy, malignancy , most commonly Approimately 50% of cases are small cell lung cancer Dermatomyositis/polyyositis o Involved site is muscle fiber o Patients will have symmetrical and symmetrical and more proximal muscle weakness
polyarthritis , and Other findings include: interstitial lung disease, polyarthritis, esophageal dysmotility Think scleroderma if fitting of CREST Skin findings are findings are indicative (e.g. Gottron papules, papules, heliotrope rash) rash ) enzymes (e.g. creatine kinase) Will have elevated muscle enzymes (e.g.
o
Lacunar infarcts occur infarcts occur due to occlusion of deep penetrating arteries in the brain These vessels are located in highly turbulent of the cerebrovascular cerebrovascular system and are most susceptible to vascular disease (e.g. disease (e.g. HTN, DM, hyperlipidemia, and smoking) Underlying pathology is a combination of microatheroma formation and lipohyalinosis Ultimately leads to thrombotic small-vessel occlusion o capsule and may lead to pure motor hemiparesis Commonly in the internal capsule and o Due to injury of the corticospinal (posterior limb) and corticobulbar (genu) tracts Patients will typically have weakness equally involving the CL face, arm, and leg
Carotid artery thrombosis Will typically lead to profound neurologic deficits including: deficits including: CL homonymous hemianopsia, hemiparesis, hemisensory loss o Symptoms are due to ischemic infarction of cerebral hemisphere Cortical signs and AMS are usually present
Cerebral sinus thrombosis typically thrombosis typically occurs is patients with hypercoaguable conditions seizures , and focal neurologic deficits Can present with headache, AMS, seizures, Diagnosis is Diagnosis is confirmed with brain MRI w/ venography o Head CT will often show NO abnormalities
SVC syndrome is syndrome is a condition arising from an SVC obstruction impeding venous return swelling (of head, neck, and arms) S/S include: dyspnea, venous congestion, and swelling (of MCC is malignancy (i.e. malignancy (i.e. lung cancer, non-Hodgkin lymphoma)… lymphoma )…accounts accounts for >60% cases CXR can CXR can identify cause >80% of cases o Any abnormalities warrant f/u with chest CT and histology (to determine tumor type and guide therapy)
Differential diagnosis of hyperandrogenism in females PCOS o Clinical features will include oligoovulation include oligoovulation as as well as hirsutism Symptoms will be chronic and slowly progressive, progressive, beginning around puberty Imaging will reveal polycystic ovaries (obviously!) Imaging will Labs will Labs will reveal an increased LH to FSH ratio as ratio as well as an increased o testosterone and testosterone and increased estrogen o Treatment is Treatment is multifactorial: 1st line = weight loss
OCPs and clomiphene Other treatment includes OCPs and Nonclassic CAH o Findings will include increased 17-OH progesterone levels o Can present with hyperandrogenism in late childhood, adolescence, or early adulthood but symptoms are slowly progressive Ovarian/adrenal tumors progressive (unlike PCOS) o Symptoms will be rapidly progressive (unlike o Patients will have increased androgen levels (>3x UL) o Suspected patients should be evaluated with testosterone and DHEAS levels Elevated testosterone w/ normal DHEAS levels DHEAS levels suggest ovarian source Elevated DHEAS levels DHEAS levels suggest adrenal tumor (far tumor (far less common) Hyperprolactinemia o Patients will have amenorrhea, galactorrhea, and increased PRL levels o Look for pituitary source MC pituitary tumor = prolactinoma Cushing syndrome o Patients will have cushingoid features o They will have a NONsuppressible dexamethasone suppression test o Lab testing will testing will reveal an increased 24-hr urinary free cortisol Acromegaly o levels and excessive growth Patients will have increased GH & IGF-1 levels and
Central retinal artery occlusion Usual presenting symptom is painless loss of monocular vision Risk factors include: factors include: carotid artery disease, endocarditis, valvular disease, hypercoaguable conditions, vasculitis, myxoma, and long bone fracture It occurs when a severe, abrupt diminution of blood flow through central retinal artery causes ischemia of inner retina o Remember that the ophthalmic artery = first intracranial branch of ICA o Supplies blood to eye via central retinal artery and the ciliary branches CRA end artery supplying inner retina Ciliary branches supplies the choroids and anterior portion of globe Retinal artery embolism is embolism is the MCC of ocular stroke Fundoscopy will Fundoscopy will reveal diffuse ischemic retinal whitening and cherry red spots Immediate intervention includes intervention includes ocular massage and high flow O2
Disseminated MAC Presents with nonspecific systemic symptoms including: fever, cough, abdominal pain, diarrhea, night sweats, weight loss o Patients will also have splenomegaly Labs will reveal an elevated ALP (reflecting MAC hepatosplenic involvement) Diagnosis is Diagnosis is made through blood cultures Treatment (first-line) includes clarithromycin or azithromycin Patients with a CD4 < 50 should 50 should receive azithromycin prophylaxis
Common causes of pleural effusions Transudative o CHF o Cirrhosis o Nephrotic syndrome o Peritoneal dialysis Exudative o Infections o Malignancy o CT diseases o Inflammatory disorders o Movement of fluid from abdomen pleural space o Coronary artery bypass surgery o Pulmonary embolism (usually)
Exudative effusions typically have the following characteristic (via Light’s criteria) Pleural fluid protein / serum protein ratio > 0.5 Pleural fluid LDH / serum LDH > 0.6 Pleural fluid LDH > 2/3 of UL of normal serum LDH pH difference: o Normal = 7.60 o Transudative = 7.40-7.55 o Exudative = 7.30-7.45
Paget disease of bone It is the MCC of isolated, asymptomatic, elevation of ALP Frequently discovered on routine blood tests o Can be elevated significantly, often 10x S/S can include: bone pain, headache, unilateral hearing loss , and femoral bowing o “My hat doesn’t fit anymore” Caused by osteoclast dysfunction and will have defective osteoid formation as well as increased bone remodeling and focal hypertrophy o Microscopically will have a disorganized “mosaic” pattern of lamellar bone Labs will show: o An elevated ALP Elevated bone tumor markers (e.g. PINP, urine hydroxyproline) o Ca & PO4- are typically normal o X-ray will show osteolytic or mixed lytic-sclerotic lesions A radionuclide bone scan is useful to fully stage the disease Treatment is with bisphosphonates
Mammary Paget disease
Suspected when a persistent, eczematous =/- ulcerating rash o Localized to the nipple and spreads to areola Patients will experience pain, itching, burning w/ no resolution with topical steroids Approximately 85% of patients with Paget disease have underlying breast cancer o Adenocarcinoma is the most common (overall found and in Paget disease) Workup should include mammography and biopsy
Asterixis is the “flapping” movement of hands occurring w/ wrist extended & arms stretched Common causes include: encephalopathy (uremic and hepatic) as well as hypercapnia Should treat underlying cause
Hemi-neglect syndrome Patient will neglect one side depending on which parietal cortex affected For example: o If insult is on left parietal, patient will neglect right side and vice versa
ADPKD is one of the most common hereditary diseases in the US Patients will often have HTN and palpable kidneys on exam o Typically, the right kidney is easier to palpate because it lies lower than left **Liver might be enlarged due to cystic involvement
Opioid intoxication S/S include: decreased mentation, HYPOrespiration, miosis, bradycardia, decreased bowel sounds, and hypothermia (or normothermia) Workup will include: o ABG looking for respiratory acidosis o Glucose can have hyperglycemia o Other drugs o ECG prolonged QTc in methadone overdose Treatment is with naloxone o ABCs!! o If patient is hypothermic and does NOT respond to naloxone, consider external warming
Bath salt intoxication o Will cause increased NE, DA and 5-HT (either by release or uptake inhibition) Symptoms include: severe agitation, combativeness, psychosis, delirium, myoclonus , o and rarely, seizures o Can also have increased sympathetic outflow increased HR and BP o Most distinguishing feature = prolonged duration of action NOTE that routine toxicology does NOT test for bath salts o
Disseminated gonococcal infection Clinical presentation is: o Purulent monoarhritis AND/OR o Triad of tenosynovitis, dermatitis (erythematous papules & pustules), and asymmetric migratory polyarthalgias Diagnosis is made with: Synovial fluid analysis, which will show inflammatory effusion w/ neutrophilic o predominance o And gram-stain Treatment is with IV ceftriaxone as well as azithro/doxy for concomitant chlamydia o Joint drainage for purulent arthritis MCC of septic arthritis in young, sexually active patients
Cor pulmonale Common etiologies include: COPD (most common), interstitial lung disease, pulmonary vascular disease, OSA Symptoms include: DOE, fatigue, lethargy as well as exertional syncope (due to decreased CO) and exertional angina (due to increased myocardial demand) Examination will reveal: o Peripheral edema, and increased JVP, loud S2, a pulsatile liver, as well as TR Imaging will include: o ECG, showing partial or complete RBBB, RAD, RVH, right atrial enlargement o Echo, showing pulmonary HTN, dilated RV, TR o R cath, showing right ventricular dysfunction, pulmonary HTN, and no left heart disease Pulmonary systolic pressure >25 mmHg
Hyperosmolar hyperglycemic state (HHS) Characterized by severe hyperglycemia (>600) and high serum osmolality (>320) o Causes glycosuria and osmotic diuresis hypovolemia and dehydration Neurologic symptoms range from confusion coma o Attributed to high serum osmolality Will typically develop over a few days to weeks (unlike DKA which is in hours) Common precipitating factors include: infection, medication, insulin therapy interruption, and trauma or acute illness
Immobilization induced hypercalcemia Can result due to increased osteoclastic activity o Especially in individuals with a high baseline rate of bone turnover (e.g. younger patients, Paget disease) Onset is typically around 4 weeks after immobilization o Patients with chronic renal insufficiency may develop hypercalcemia in as little as 3 days
Bisphosphonates can reduce this hypercalcemia and prevent bone loss
Angiotensin II Causes numerous effects, including: Vasoconstriction of BOTH afferent and efferent glomerular arterioles o Resulting in increased renal vascular resistance A net decrease in renal blood flow o Preferential vasoconstriction of efferent renal arteriole Resulting in increased intraglomerular pressure (in attempt to maintain GFR) o Direct stimulation of Na+ resorption in proximal tubules and increased aldosterone secretion from adrenal glands Leads to decreased sodium delivery to distal tubule An increase in extracellular fluid volume Will have increased levels in RAAS activation o I.e. decompensated CHF decreased renal perfusion
Recurrent pregnancy loss can occur in a variety of issues including: Structural uterine (e.g. fibroids, adhesions, polyps), cervical insufficiency Chromosomal aneuploidy, translocations/rearrangements, mosaicism Immunologic/Hematologic hypercoaguable disorders (e.g. antiphospholipid syndrome), alloimmune intolerance Endocrine thyroid disease (i.e. Hashimotos), PCOS, DM, hyperprolactinemia Other advancing maternal age, defective endometrial receptivity, decreased ovarian reserve, celiac disease
Causes of diarrhea in AIDS patients Cryptosporidium o Seen with CD4 < 180 o Symptoms will include: severe watery diarrhea as well as low-grade fever and weight loss Microsporidium o Seen with CD4 < 100 o Symptoms will include: watery diarrhea as well as crampy abdominal pain and weight loss NOTE that fever is RARE MAC o Seen with CD4 < 50 o Symptoms include: watery diarrhea, HIGH fever, and weight loss Cytomegalovirus o Seen with CD4 < 50 o Symptoms include: frequent, small volume diarrhea along w/ hematochezia and abdominal pain
o o
Will also have low-grade fever and weight loss Diagnosis is Diagnosis is best with colonoscopy w/ biopsy Active infx tx = ganciclovir
Dermatitis herpetiformis reaction due to dietary gluten Autoimmune dermal reaction due commonly associated with celiac disease o vesicles on the elbows, knees, back, and Present with clusters of pruritic papules and vesicles on buttocks Further studies o Immunofluorescence shows Immunofluorescence shows deposits of anti-epidermal transglutaminase IgA in the dermis o Skin biopsy shows biopsy shows supepidermal microabscesses at microabscesses at the tips of dermal papillae Management is Management is with dapsone and gluten-free and gluten-free diet
Disseminated histoplasmosis Epidemiology: seen in the Midwest (Ohio & Mississippi River Valleys) o Contamination by bird or bat droppings loss, pulmonary s/s, s/s, and Symptoms include: systemic (fever, chills, malaise), weight loss, mucocutaneous lesions Labs can Labs can include: PANcytopenia, transaminitis, as well as increased LDH & ferritin CXR will CXR will show reticulonodular or insteritial infilitrate Dx is Dx is best confirmed with serum or urine Histoplasma antigen Tx is with itraconazole (mild) as well as ampho B (≥mod)
Blastomycosis Epidemiology: endemic to the Great Lakes, and Mississippi and Ohio River basins Is a pulmonary fungal infection that can present with fever, night sweats, cough, and weight loss (TB-like) loss (TB-like) systemic, can results in skin involvement and lytic bone lesions o If systemic, Sputum culture will reveal broad-based budding yeast Treatment is with itraconazole or amphotericin B
Crohns disease Involvement: anus, the rectum usually spared, perianal disease, disease, will o Extending from mouth to anus, have skip lesions Microscopy will show noncaseating granulomas Gross features include: transmural inflammation, inflammation , linear mucosal ulcerations, cobblestoning, cobblestoning, and creeping fat Complications include: fistulas, strictures, and abscesses
Diffuse esophageal spasms
Characterized by uncoordinated, simultaneous contractions Frequently seen in association with emotional factors and functional GI disorders Esophagram may Esophagram may produce a “corkscrew esophagus” pattern 1st line tx is with calcium channel blockers (e.g. diltiazem) , will relieve pain and reduce dysphagia
HTN (uncontrolled despite 3-drug regiment) should be evaluated for Patients with resistant HTN (uncontrolled renovascular disease 55 or if there is severe Other times include when there is onset of severe HTN after age 55 or HTN w/ diffuse atherosclerosis Patients with renovascular disease will often have asymmetric renal size and can have an abdominal bruit auscultated Lab results include results include an unexplained rise in Cr after starting ACEi or ARBs Imaging can Imaging can show an unexplained atrophic kidney
Adrenal insufficiency Primary o Presents with: hypotension, hyperpigmentation, hyponatremia, hyperkalemia, eosinophilia, markedly elevated ACTH , and low serum cortisol levels o The MCC = autoimmune adrenalitis Responsible for >80% of patients with primary adrenal cortical insufficiency Approximately 50% of patients with Addison’s disease have AI diseases involving other endocrine glands o Labs will Labs will show decreased cortisol, increased ACTH, ACTH , and decreased aldosterone Central o Presents with: less severe symptoms than primary (e.g NO hyperpigmentation, NO hyperkalemia, and possible hyponatremia) o MCC = chronic glucocorticoid therapy Following GC discontinuation, normal HPA axis functioning may m ay not fully return for up to 6-12 months o Labs will Labs will show decreased cortisol, decreased ACTH, ACTH , and normal aldosterone
Cushing syndrome (hypercortisolism) syndrome (hypercortisolism) Symptoms can include: easy bruisability, bruisability, wide purple striae, striae, hyperpigmentation, hyperpigmentation, and women can have features of hyperandrogenism (e.g. hyperandrogenism (e.g. menstrual irregularities, acne, hirsutism) CUSHINGOID o Cataracts Ulcers Skin (e.g. striae, thinning, bruising) Hypertension, hirsutism, hyperglycemia Infections
Necrosis, (e.g. avascular of femoral head) Glycosuria Osteoporosis, obesity Immunosuppression Diabetes Labs can include: o Hyperglycemia due Hyperglycemia due to peripheral insulin resistance and hypercortisolisminduced gluconeogenesis Hypokalemia and Hypokalemia and alkalosis, due to the partial mineralocorticoid effects o ACTH levels will levels will help differentiate ACTH-dependent differentiate ACTH-dependent (e.g. pituitary tumor, ectopic ACTH) from ACTH-independent (e.g. adrenal adenoma)
Brown-Sequard syndrome cord and will have Disorder occurs when there is an injury of a hemisection of the spinal cord and symptoms of: o Ipsilateral hemiparesis Lateral corticospinal tract Occurs at the level of the cord injury and below Ipsilateral diminished proprioception, vibratory sensation, and light tough o Dorsal columns Occurs at the level of the cord injury and below o Contralateral diminished pain and temperature Lateral spinothalamic tract Tends to occur 1-2 levels BELOW cord injury because LST decussates 1-2 levels above entry point for corresponding sensory neuron
Multiple Myeloma Will present with osteolytic lesions, lesions , anemia, HYPERcalcemia, HYPERcalcemia, and renal insufficiency Has an IgG M spike Peripheral smear will show rouleaux formation BMB will BMB will show >10% clonal plasma cells Urine will have Bence-Jones proteins
Waldenstrom macroglobulinemia malignancy characterized by excessive IgM antibody production A plasma cell malignancy characterized o Will show a sharp IgM spike similar to MM spike syndrome, neuropathy, bleeding, HSM, HSM, and LAD Will present with hyperviscosity syndrome, BMB will show >10% clonal B cells
Human bite wounds infections with both aerobic and anaerobic organisms Often result in polymicrobial infections with Treatment should be with amoxicillin-clavulanate o Will provide adequate coverage for majority of vi rulent oral bacteria
G6PD deficiency Hemolytic episodes are commonly precipitated by infection or medications that will increase oxidative stress o DIS PAIN dapsone, INH, sulfonamides, primaquine, aspirin, ibuprofen, nitrofurantoin & naphthalene Pathophysiology o G6PD is responsible for catalyzing the reduction of NADP NADPH NADPH is necessary to form reduced glutatathione, which protects RBCs from oxidative injury o In absence of G6PD and in the presence of oxidizing agents, Hgb becomes oxidized to form methemoglobin, denatured globin, and sulfhemoglobin Form insoluble masses attaching to RBC membrane and eventually promote RBC removal in the spleen’s reticuloendothelial system (RES) HEINZ BODIES
Solid organ transplantation Require high-dose immunosuppression, to prevent organ rejection Creates immunocompromised state at risk for opportunistic infections (e.g. PCP, CMV) o Should receive TMP-SMX prophylaxis, and those who are allergic undergo desensitization Can be safely discontinue usually 6-12 months after transplant as the patient tapers the immunosuppressive regiments o Some patients may receive prophylaxis with ganciclovir (or valganciclovir) for cytomegalovirus Patients typically receive pneumococci and hepatitis B vaccines prior to transplant (to ensure adequate immune response)
Ring enhancing lesions Primary CNS lymphoma o Presence of EBV DNA in CSF is SPECIFIC for this condition o MRI will show a weakly ring-enhancing mass that is usually solitary and periventricular Cerebral toxoplasmosis o MRI reveals multiple, ring-enhancing, spherical lesions in the basal ganglia o Serology will show positive Toxoplasma, but it is NOT specific since it is quite common for normal patients to have positive serology
Nephrotic syndrome Defined as heavy proteinuria (>3.5g/day) along with hypoalbuminemia and edema o Other findings include hyperlipidemia and increased lipids in urine
Hypoalbuminemia can lead to volume overload periorbital edemia, peripheral edema, and ascities Types and their clinical associations FSGS african americans & Hispanics, obesity, HIV, IVDA o Considered the MCC of nephrotic syndrome o Membranous nephropathy adenocarcinoma (e.g. breast, lung), NSAIDs, hepatitis B, SLE Is the 2nd MCC of nephrotic syndrome MPGN hepatitis B & C, lipodystrophy o Minimal change NSAIDs, lymphoma (e.g. Hodgkin) o More common among children IgA nephropathy URI infections o o
Thyroiditis Chronic AI/Hashimoto o Patient will have predominant hypothyroid features and a diffuse goiter o Labs will reveal high TSH as well as positive TPO antibody Variable radioiodine uptake Painless/Silent o Considered a variant of chronic autoimmune o Patients will have a small, nontender goiter along with a brief hyperthyroid phase o They may have positive TPO antibody o Will have a low radioiodine uptake (vs Graves = diffuse uptake) o Can be seen postpartum Subacute (aka de Quervain) o Patients will have a painful/tender goiter along with elevated ESR & CRP o It is likely postviral inflammatory process and patients will have a fever
Bacillary angiomatosis Etiology o Organism Bartonella henselae o Caused by cat exposure or lice (risk factor = homelessness) o High risk in severely immunocompromised (e.g. HIV CD4 < 100) S/S can include: o Vascular cutaneous lesions that are popular, nodular, and peduncular o Systemic signs including fever, night sweats, fatigue o Can cause diffuse organ involvement, such as liver, bone, and CNS Diagnosis is with a lesional biopsy along with microscopy / histopathology Treatment is with doxycycline or erythromycin and possible antiretroviral therapy
Esophagitis in HIV Candida albicans white plaques, oral thrush
HSV round/ovoid ulcers & herpetic vesicles CMV typically distal esophagus, deep linear ulcers Idiopathic/apthous concurrent oral apthous ulcers
Noninvasive positive-pressure ventilation (NPPV) Indications include COPD exacerbation, cardiogenic pulmonary edema, acute respiratory failure (e.g. postoperative hypoxemic respiratory failure, immunocompromised), and to facilitate early extubation o Has shown to decrease mortality, rate of intubation, hospital length of stay, and incidence of nosocomial infections in COPD patients with acute exacerbation If failed, patient should undergo endotracheal intubation with mechanical ventilation Contraindications include medical instability, inability to protect airway, and mechanical issues
Basal cell carcinoma o It is the most common form of skin cancer in the US, accounting for ~75% of all skin cancers o Usually remains local and rarely spreads o Possible features include Persistent open sore that bleeds, oozes, or crusts o o Elevated or rolled border with central ulceration o Pale scar-like area with poorly defined borders o Types o Superficial BCC have a reddish patch or irritated area o Nodular BCC have a pearly or translucent nodule with pink, red, or white color o Treatment Mohs surgery is typically used for BCC on the face o Characterized by sequential removal of thin skin layers with microscopic inspection to confirm that margins are cleared of malignant tissue Has highest cure rate and provides least disruption to surrounding tissues o Standard surgical excision used for nodular BCC on trunk or extremities Metabolic alkalosis o Saline-responsive o Will have lower urinary chloride (<20) o Commonly due to loss of gastric secretions that results in ECF loss Results in increased renal MC levels, increased renal sodium , and chloride reabsorption Patients will typically develop volume depletion End results decreased urine chloride, hypokalemia, metabolic alkalosis o Usually corrects with isotonic saline infusion
o
Will restore BOTH volume and low ClSaline-unresponsive o Will have higher urinary chloride (>20) o Patients can have expanded ECP with hypervolemia o Conditions include primary hyperaldosteronism, Cushing syndrome, etc.
Rheumatoid arthritis o Presents as a progressive and symmetrical involvement of the peripheral joints Common sites include the metacarpophalangeal and proximal interphalangeal joints of o the fingers, metatarsophalangeal joints of the toes, and the wrist joints o Can affect the cervical spine joints in the axial skeleton spinal subluxation and spinal cord compression o Typically will SPARE DIP JOINT (unlike osteoarthritis) o S/S include: o Multiple joint pain Morning stiffness >1 hour that improves with activity o Labs will show: o o Positive anti-CCP antibodies o Others include: X-ray will show soft-tissue swelling, joint space narrowing, and bony erosions o Intracranial hypertension o Etiologies include: trauma, space-occupying lesion, hydrocephalus, impaired CNS venous outflow, and idiopathic ICH (pseudotumor cerebri) o Typically presents with headache (worse at night) along with n/v, mental status changes, and may have focal neurologic symptoms o Can worsen with maneuvers that increase ICP (e.g. leaning forward, valsalva, cough) Cushing reflex is worrisome and suggests brainstem compression o o Triad of HTN, bradycardia, respiratory depression Hypocalcemia o May be asymptomatic at initial presentation but can have nonspecific symptoms (e.g. fatigue, anxiety) o After confirmation should determine the parathyroid hormone level to distinguish between: Low PTH-associated conditions such as surgery, polyglandular autoimmune o MCC of hypoparathyroidism is recent surgery involving surrounding areas (e.g. thyroidectomy) o High PTH-associated conditions such as vit D def, CKD Hypercalcemia o Can be categorized on the basis of PTH levels PTH-independent o
Patient will have suppressed PTH o Causes include: malignance, vit D toxicity, extrarenal conversion in granulomatous disease (e.g. sarcoidosis) as well as thyrotoxicosis, vit A toxicitiy, milk-alkali syndrome, drug induced (e.g. thiazides) Rises from malignancy > other causes 1˚ hyperpara Ca2+ ~12 Malignancy Ca2+ ~14 PTH-dependent o Patients will have elevated or inappropriately normal PTH o Usually due to primary hyperparathyroidism “Stones, bones, moans, and psychic overtones” These patients will have a increased urinary calcium excretion, due to excessive mobilization of calcium from bones o Other causes include: familial hypocalciuric hypercalcemia (FHH) and lithium o
o
Secondary Hyperparathyroidism Patients will have hypocalcemia, hyperphosphatemia, and increased PTH One of the more common causes is renal failure o Results in phosphate retention and decreased 1,25-vit D Eventually leads to high phosphorus and decreased Ca2+ absorption o NOTE that PTH levels will increase as the GFR declines (inverse relasionship) PTH elevation usually correlates with severity of renal failure
FHH is a benign autosomal dominant disorder Caused by a mutation of the calcium-sensing receptor (CaSR) Results in higher Ca2+ needed to suppress PTH release defective CaSR leads to increased reabsorption of calcium in renal tubules o Patients will have a very low urinary calcium level (unlike primary hyperparathyroidism) Potential complications include: pancreatitis and chondrocalcinosis
Hereditary spherocytosis o Epidemiology Typically autosomal dominant and more common in northern European descent o Most often is an ankyrin gene defect resulting in abnormal RBC plasmamembrane scaffolding proteins o Clinical presentation is hemolytic anemia, jaundice, and splenomegaly Labs will show: o Increased MCHC o o PBS will show spherocytes o Patients will have a negative coombs tests (unlike autoimmune hemolytic) o Acidified glycerol lysis test indicates an increased osmotic fragility o Abnormal eosin-5-maleimide binding test Treatment is typically with folic acid supplementation, transfusions, and splenectomy o
NOTE that splenectomy will improve anemia and reduce gallstone risk, but it does NOT change the increased MCHC in the RBCs Complications include pigment gallstones (due to hemolysis) as well as aplastic crisis (via parvovirus B19) o
o
Secondary causes of HTN (and their associated features) o Renal parenchymal disease o Elevated serum creatinine o Abnormal urinalysis o Renovascular disease o Severe HTN after age 55 o Possibly recurrent flash pulmonary edema or resistant heart failure o Unexplained rise in serum creatinine o Abdominal bruit o Primary hyperaldosteronism o Easily provoked hypokalemia o Slight hypernatremia o HTN w/ adrenal incidentaloma o Pheochromocytoma o Paroxysmal elevated BP with tachycardia o Pounding headaches, palpitations, diaphoresis o HTN w/ adrenal incidentaloma o Cushing syndrome o “CUSHINGOID” features o Proximal muscle weakness o Ecchymosis, amenorrhea/ED o HTN w/ adrenal incidentaloma o Hypothyroidism o Fatigue, dry skin, cold intolerance o Constipation, weight gain, bradycardia o Primary hyperparathyroidism o “Stones, groans, moans, and psychic overtones” o Significant HTN with PHPT could suggest MEN 2A with concurrent PCC o Coarctation of the aorta o Differential HTN with brachial-femoral pulse delay Vitiligo o
o
o
Results in depigmented macules on acral areas & extensor surfaces, with the face commonly affected There is an increased incidence of other autoimmune diseases (e.g. SLE, thyroid, Addison) Treatment is with corticosteroids (topical for mild, oral for severe)
Syringomyelia
o
o o o
Is a fluid-filled cavity in the spine that may represent dilation of the central canal or a separate cavity within the spinal parenchyma It is usually located within the cervical and thoracic It is most commonly associated with Arnold Chiari malformation type I Patients will typically present with: “Cape” distribution sensation loss that is due to disturbance of the crossing o spinothalamic tracts in the anterior commissure o Patients can have areflexic weakness (LMN signs in upper limbs) Caused by cavity expansion interruption of anterior horn gray matter
Guillain-Barre syndrome Characterized by ASCENDING weakness as well as bulbar symptoms (e.g. dysarthria, dysphasia) Typically preceded by respiratory or GI infection (most commonly C. jejuni) Treatment involves IVIG and/or plasmapheresis
Amyloidosis Types
o
AL
o
Composition is light chains (usually lambda) Associated conditions include multiple myeloma and Waldenström macroglobulinemia
AA
Composition is abnormally folded proteins Typically, ß2-microglobulin, apolipoprotein, or transthyretin Associated conditions include chronic inflammatory conditions (e.g. RA, IBS) and chronic infections (e.g. osteomyelitis, TB) Pathologic finding is amyloid deposits that will stain w/ Congo red and demonstrate apple-green birefringence
MEN syndrome I pituitary, parathyroid, pancreatic IIa PCC, parathyroid, medullary thyroid IIb PCC, meduallary thyroid, mucosal neuroma
Pseudogout Form of acute arthritis induced by the release of calcium pyrophosphate from sites of chondrocalcinosis (i.e. calcification of articular cartilage) Patients present with acute pain, swelling, redness, and limited ROM o Can have fever and mild leukocytosis, but much less common than gout MC = knee o Synovial fluid analysis will show an inflammatory effusion with rhomboid-shaped, positively birefringent crystals (vs gout = needle-shaped, negatively birefringent)
Colovesical fistula A connection between colon and bladder Can be a complication of acute diverticulitis o Mechanism is usually due to direct extension of a ruptured diverticulum or erosion of a diverticular abscess into the bladder Patient typically develops fecaluria or pneumaturia o Can develop recurrent UTI (sometimes mixed flora) or other nonspecific symptoms Abdominal CT (oral or rectal contrast) can confirm diagnosis by showing contrast material in the bladder o Will also show thickened colonic and vesicular walls Colonoscopy is usually recommended in patients diagnosed with colovesical fistula to exclude colonic malignancy Treatment is typically surgical after resolution of infection
Frostbite Characterized by freezing of tissue, leading to disruption of membranes, ischemia, thrombosis, and inflammatory changes o Symptoms can vary from superficial pallor blistering necrosis Initial management should be rapid rewarming in 37-39˚C water bath o Should NOT be attempted if there is possibility of refreezing before definitive care as it can worsen tissue damage o After rewarming, wound care should be provided to reduce risk of secondary infection
Iron studies in microcytic anemia Iron deficiency o Low MCV o Low iron o High TIBC o Low ferritin o Low saturation Thalassemia o Low MCH o High iron o Low TIBC o High ferritin o High saturation Anemia of chronic disease o Normal/low MCV o Low iron o Low TIBC
o o
Normal/high ferritin Normal/low saturation
Iron deficiency in children <2 Risk factors include: o Prematurity o Lead exposure o Infants who consume: Low-iron formula Cow’s milk, soy milk, or goat’s milk before age 1 Exclusive breastfeeding after 6 months Toddlers who consume: o >24 oz/day of milk <3 servings/day or iron-rich foods (e.g. meat, fortified cereal) Lab findings include a low MCV, high RDW, low RBC, and a low MCHC Universal screening is achieved with CBC in all children at age 9-12 months Treatment is with an empiric trial of iron supplementation
Anemia of chronic disease Pathophysiology is thought to involve iron trapping w/in macrophages o Leads to reduced serum iron and poor iron availability Lab studies will show normal/low mcv, low iron, low TI BC, normal/high ferritin, and normal/low saturation It is commonly associated with chronic inflammatory diseases Treatment is to treat underlying disorder common agents include: methotrexate, hydroxychloroquine, and TNF inhibitors
Wegener (granulomatosis w/ polyangiitis) Have variety of symptoms Upper respiratory: sinusitis, saddle-nose deformity o Lower respiratory: tracheal narrowing w/ ulceration o CXR findings of multiple lung nodules w/ cavitation o o Patients will typically have anemia of chronic disease o Renal involvement is extremely common (~85% of cases) Diagnosis is with p-ANCA and with biopsy (showing granulomatous inflammation) Treatment is with high-dose corticosteroids as well as cyclophosphamide (or rituximab)
Gluconeogenesis The main substrates include: alanine, glutamine, lactate, and glycerol 3-phosphate o Gluconeogenic amino acids from breakdown of muscle proteins o Lactate from anaerobic glycolysis o Glycerol 3-phosphate from TAG in adipose Alanine is the major gluconeogenic amino acid in the liver
o o
Will be converted to pyruvate (via alanine aminotransferase) glucose through series of reactions And pyruvate
Scleroderma renal crisis (SRC) Can occur in up to 20% patients with diffuse cutaneous systemic sclerosis (SSc) o Usually occurs within first 5 years of Ssc diagnosis Mechanism involves increased vascular permeability, activation of the coagulation cascade, and increased renin Patients will typically develop with symptoms of sudden onset renal failure along with malignant HTN (e.g HA, blurry vision, nausea) PBS can show microangiopathic hemolytic anemia with schistocytes and thrombocytopenia
Thrombotic thrombocytopenic purpura (TTP) Life-threatening disorder of the microvasculature characterized by the formation of small vessel thrombi that will consume platelets, shear RBCs, and eventually cause end organ damage Should be suspected in patient with lab evidence of thrombocytopenia and intravascular hemolytic anemia Marked by a pentad of: thrombocytopenia, MAHA, renal insufficiency, neurologic changes, and fever Caused by a deficiency of ADAMTS13, due to formation of antibody o Leads to uncleaved vWF multimers platelet trapping & activation It requires emergent treatment with plasma exchange
Immune thrombocytopenia Clinical presentation is with asymptomatic petechiae & ecchymosis (most common) o As well as mucocutaneous bleeding and there is often antecedent viral infx Lab findings will include an isolated thrombocytopenia (<100k) and a PBS w/ megakaryocytes Treatment will depend on age and symptoms present Children o Skin findings observation Bleeding IVIG or glucocorticoids Adults o Platelets >30k w/o bleeding observe Platelets <30k OR bleeding IVIG or glucocorticoids
Heparin-induced thrombocytopenia (HIT) Type I o Due to a non-immune direct effect of heparin on platelet activation o Usually presents w/in first 2 days of exposure o Platelet count will normalize with continued heparin therapy
Type II Due to an immune-mediated disorder with antibodies to PF4 o Leads to platelet aggregation, thrombocytopenia, and thrombosis o Platelet counts typically drop ≥50% from baseline o Usually presents 5-10 days after exposure o Can lead to life-threatening consequences Venous and arterial thrombotic risk, as high as 50% in untreated HIT If this occurs heparin product should be discontinued IMMEDIATELY and anticoagulation initiated with nonheparin medications (e.g. argatroban, fondaparinux) o
CAD therapy that will improve morbidity and mortality DAPT (Dual antiplatelet therapy) with aspirin and P2y12 receptor blockers (e.g. clopidogrel, prasugrel, ticagrelor) o Leads to significant reduction in recurrent MI and CV death compared to aspirin alone o Long-term usage has shown to also reduce risk of stent thrombosis and is currently recommended for at least 12 months in ALL patients following drug eluting stent placement Beta blockers ACEI or ARBs Statins Aldosterone antagonists (e.g. spironolactone, epleronone) o in patients that have EF < 40% who have HF s/s or DM
Causes of hirsutism in women PCOS o Present with oligomenorrhea, hyperandrogenism, and obesity o Associated with DM2, dyslipidemia, and HTN Idiopathic hirsutism o Will have normal menstruation and normal serum androgens Nonclassic 21-hydroxylase deficiency o Similar to PCOS o Labs will show elevated serum 17-hydroxyprogesterone Androgen-secreting ovarian tumors, ovarian hyperthecosis o More common in postmenopausal women o Will have rapidly progressive hirsutism with virilization o Labs will who very high androgens Cushing syndrome o “CUSHINGOID” features o Can present with increased libido, virilization, and irregular menses
PCOS
Clinical features include: androgen excess, menstrual irregularities (e.g. oligoovulation, anovulation), obesity, and polycystic ovaries Lab values include: increased testosterone, increased estrogen, and LH/FSH imbalance o LH/FSH imbalance results in failure of follicle maturation and oocyte release o Persistently elevated esterone due to peripheral androgen conversion (in adipose) and also decreased sex hormone binding-globulin Treatment is with weight loss (1st line), OCPs (for menstrual regulation), and clomiphene (induce ovulation)
Carcinoid syndrome S/S include skin (flushing, telangiectasia), GI (diarrhea, cramping), cardiac (valve lesions L>R), pulmonary (bronchospasm), and other (niacin deficiency) Diagnosis is with an elevated 24-hour urinary 5-HIAA o CT/MRI (abdomen & pelvis) can be used to localize tumor o Should obtain echo if cardiac symptoms Treatment is with octreotide (for symptomatic patients) o Surgery should be performed on those with liver metastasis
Parvovirus B19 infection S/S will include: o Most will be asymptomatic or have flulike symptoms Erythema infectiosum fever, nausea, & slapped cheek rash (mostly children) o o Can have acute, symmetric arthralgia/arthritis (will resemble RA) o Can cause aplastic crisis in sickle cell (or those with hematologic disease) Diagnosis is dependent: o Immune status: Immunocompetent B19 IgM antibodies Immunocompromised NAAT for B19 DNA o Previous B19 IgG antibodies o Reactivation of previous NAAT for B19 DNA
Aortic Regurgitation The MCC of isolated AR in young patients is a congenital bicuspid valve o Other causes include aortic root dilation (e.g. marfan, syphilis), postinflammatory (e.g. rheumatic, endocarditis) Pathophysiology o Backflow from the aorta into LV causes increased LVEDV Eventually leading to pulmonary congestion o Excessive LV stretching can lead to decreased SV, systolic HF, and decreased forward blood flow Clinically will present with: o A diastolic decrescendo murmur and a widening pulse pressure (increased systolic, decreased diastolic)
o o
Collapsing/water hammer pulse Heart failure s/s
Minimal rectal bleeding MCC = hemorrhoids Evaluation will depend on age and risk factors: o <40 w/o red flags do anoscopy o 40-59 w/o red flags sigmoidoscopy or colonoscopy o >50 OR red flags colonoscopy
Anterior cord syndrome Usually occurs when there is an injury to anterior spinal artery (e.g. disc retropulsion, vertebral burst fracture) o Will affect the anterior 2/3 of spinal cord Clinical findings will include: o B/l hemiparesis Due to damage of the lateral corticospinal tract At the level of injury and below Diminished b/l pain and temperature sensation o Due to damage of the lateral spinothalamic tract Will affect 1-2 levels below because the LST decussates 1-2 levels before the corresponding levels o Intact b/l proprioception, vibratory, and light touch These are managed in the dorsal column, supplied by the posterior spinal arteries Also reinforced by radicular segmental b ranches Patient should immediately have an MRI for imaging to assess injury to site Treatment can include a decompressive procedure to regain neurological function
Fibromuscular dysplasia A systemic noninflammatory disease that typically affects the renal and internal carotid arteries and can lead to arterial stenosis, aneurysm, or dissection o More common in women (90% cases) o Less commonly involved arteries include vertebral, iliac, or mesenteric MCC symptom is a recurrent headache o Other symptoms include those of ICA stenosis (pulsatile tinnitus, TIA, stroke) or RAS (2˚ HTN, flank pain) Physical exam can reveal a subauricular systolic and/or abdominal bruit Diagnosis is made by vascular imaging o Duplex US, CTA, MRA, catheter-based arteriography Treatment involves antihypertensives and possibly definitive management (e.g. percutaneous transluminal angioplasty, surgery)
Extranodal marginal zone B cell lymphoma (MALT) Pathogenesis chronic H. pylori infection resulting in stimulation of large numbers of antigen-dependent B and T cells in the gastric lamina o All patients with MALT lymphoma should be tested for H.pylori infection Treatment will depend on: o H.pylori positive and early stage MALT Undergo H.pylori eradication therapy (e.g. quadruple – bismuth, metronidazole, tetracycline, PPI) o H.pylori negative or advanced malignancy Considered for radiation therapy, immunotherapy, or single-agent chemotherapy
Abnormal hemostasis in CRF Pathogenesis is multifactorial, but the major defect involves platelet-vessel wall and platelet-platelet interaction o Severe uremic toxins have been implicated, the chief is guanidinosuccinic acid Labs will typically show a elevated BT, but normal PT, PTT Treatment of choice is with DDAVP which will increase factor VIII – vWF multimers from endothelial storage sites o Other treatments include cryoprecipitate and conjugated estrogens
Pulmonary Hypertension Common presentation is with: progressive SOB, TR (systolic at sternal border increasing with inspiration), peripheral edema, etc. Defined as mean PAP > 25 at rest o Can be idiopathic or 2/2 left heart disease, chronic lung disease, or chronic thromboembolism Treatment will depend on type o For those with left systolic dysfunction, should be managed with loop diuretics, ACE inhibitors, ß-blockers, and sometimes aldosterone antagonists
Bartholin cyst and abscess Presents as a soft, mobile, well-circumscribed mass at the base of labia majora They are typically asymptomatic, but if they become large enough, they can cause discomfort with sitting, walking, exercise, and sex It can progress to abscess o Will become erythematous, swollen, tender, etc. Treatment will depend: o If asymptomatic, typically observation Cyst may spontaneously drain and resolve o If abscess progression, should do I&D with Word catheter placement
Retinal detachment Refers to the separation of the layers of the retina Patients complain of photopsia and floaters o The most “classic description” is that of a “curtain coming down over my eyes” Opthalmoscopic examination reveals grey, elevated retina
Choanal atresia Presents as a newborn with cyanosis that is aggravated by feeding and relieved by crying Condition may be isolated or part of CHARGE syndrome o C – coloboma o H – heart defects o A – atresia choanae o R – retardation of growth/development o G – genito-urinary abnormalities o E – ear abnormalities/deafness Congenitial nasal malformation is caused by a failure of the posterior nasal passage to canalize completely either leaving a bony (90%) or membranous (10%) obstruction
Laryngomalacia Classically presents with inspiratory stridor that is exacerbated by exertion or distress Symptoms appear w/in the first few weeks of life
Acute causes of hemiplegia (in children) and their features: Seizure o H/o generalized limb jerking or LOC o Presence of postictal confusion or Todd paralysis o Self-resolving symptoms Intracranial hemorrhage o H/o trauma and/or bleeding disorders o Signs of increased ICP (e.g. vomiting, bradycardia) Ischemic stroke o H/o of prothrombic disorder or cardiac disease o Focal neurologic deficit (e.g. hemiplegia, aphasia, ataxia) Hemiplegic migraine o Onset in adolescence and often positive family hx o H/o headaches & visual aura o Symptoms self-resolve
Cystic fibrosis Is the most common AR disorder in whites Characterized by a defective chloride transport (e.g. CFTR gene) , resulting in viscous secretions in the lungs, sinuses, and pancreas
Presenting symptoms include: o Respiratory recurrent PNA, obstructive lung disease (e.g. bronchiectasis), chornic rhinosinusitis o GI pancreatic disease (e.g. exocrine insufficiency), obstruction, biliary cirrhosis Pancreatic insufficiency = steatorrhea, FTT, and vitamin deficiencies o Reproductive infertility o MSK osteopenia, kyphoscoliosis, digital clubbing Relationship with infections diseases o S. aureus is the MC pathogen isolated in infants and young children o Pseudomonas is the MCC of CF-related PNA in adults
Mixed cryoglobulinemia syndrome (MCS) Caused by immune complex deposition in small-medium blood vessels o Leads to endothelial injury and end-organ damage Commonly presents with fatigue, palpable NON-blanching purpura, and arthralgias o Can have renal involvement as well as liver involvement (e.g. elevated enzymes) Most commonly associated with chronic inflammatory conditions, such as HCV and SLE o So every patient suspected of having should be tested for HCV, HBV, and HIV Diagnosis can be confirmed serologically (e.g. serum cryoglobulins, low complement) or with a skin/renal biopsy Treatment involves addressing underlying disease and can also involve plasmapheresis and immunosuppression (e.g. GCs, rituximab)
Tardive dyskinesia Involuntary movement disorders associated with dopamine-blocking agents o Movements include that of the mouth, tongue, trunk, and extremities Most commonly associated with prolonged antipsychotic use Pathophysiology of TD is thought to involve D2 receptor upregulation and supersensitivity
Acute respiratory distress syndrome (ARDS) Risk factors include: infection, trauma, massive transfusion, and acute pancreatitis Pathophysiology is via lung injury fluid/cytokines into alveoli o Results in impaired gas exchange, decreased lung compliance, and PHTN o Leads to leakage of bloody and proteinaceous fluid into the alveoli, alveolar collapse due to loss of surfactant, and diffuse alveolar damage o As a result Gas exchange is impaired due to a ventilation-perfusion mismatch Lung compliance is decreased due to both loss of surfactant and increased elastic recoil of edematous lungs
Pulmonary HTN occurs due to hypoxic vasoconstriction, destruction of lung parenchyma, and compression of vascular structures from positive airways pressure in mechanically ventilated patients
Diagnosis o CXR will show b/l lung opacities that are NOT due to CHF/fluid overload o Patient will have hypoxemia with PaO2/FiO2 ≤300mmHg Management is with mechanical ventilation (e.g. low TV, high PEEP, permissive hypercapnia) Goals AVOID complications by using lung-protective strategies such as low TV o ventilation Will decrease risk of overdistending alveoli and provoking baratrauma due to high plateau pressure Will improve mortality in patients with ARDS **In contrast, higher TV in ARDS may results in elevated pulmonary pressures due to work of forcing larger volumes alveolar distension = BAD!!!! o Adequate oxygenation Increased Fi02, but not keeping it prolonged >0.6 (which increases oxygen toxicity) PaO2 goal 55-80mmHg or a SpO2 88-95%
Maternal serum alpha-fetoprotein Increased levels can indicate: NT or ventral wall defects as well as multiple gestation Decreased levels can indicate: aneuploidies (e.g. trisomy 18, 21)
Drug-induced acne Causes include: glucocorticoids, immunomodulators, anticonvulsants, antipsychotics, anti-TB agents Presentation is as monomorphic papules/pustules with the lack of comedones, cysts & nodules Management is to d/c offending agent o NOTE that standard acne therapy is unlikely to be effective
Aromatase deficiency Present with normal internal genitalia, external virilization (e.g. clitoromegaly), and undetectable serum estrogen levels In adolescents, patients will have delayed puberty, osteoporosis, and undetectable estrogen levels o They will also have high gonadotropins polycystic ovaries
Cutaneous larva migrans (CLM) Creeping cutaneous eruption caused by Ancylosoma (dog – caninum; cat – brazilienes)
Most infections are acquired from walking barefoot on contaminated sand or soil Clinical features: o Most occur in the lower extremities (70%) o Usually start with a pruritic, erythematous papule at the site of penetration o Will progress in few days with track similar to larvae migration Leaving an intensely pruritic, serpinginous, red-brown track Treatment is with an antihelmintic agents (e.g. ivermectin)
Diarrhea To calculate SOG = plasma osmolality – 2*(stool Na + stool K) Osmotic o Nonabsorbed and unmeasured osmotically active agents are present in GI tract o Results in an elevated osmotic gap (SOG > 125) Secretory o Hallmark includes larger daily stool volumes with a reduced osmotic gap (<50) o Causes include: bacterial infections (e.g. cholera), viral infections (e.g. rotavirus), congenital (e.g. CF), early ileocolitis, and postsurgical changes
Medications that can cause hyperkalemia (and their mechanism) Nonselective beta-blockers interfere with ß2 mediated intracellular K+ uptake ACE inhibitors inhibition of angII formation w/ subsequent decrease in aldo ARBs block AT1 receptor, leading to decreased aldo secretion K+-sparing diuretics block ENaC or aldosterone receptor Cardiac glycosides (e.g. digoxin) inhibition of Na/K-ATP pump NSAIDs impaired local PG synthesis reducing renin and aldo secretion
Delayed sleep phase syndrome Circadian rhythm disorder characterized by the inability to fall asleep at “normal” bedtimes o Resulting in sleep-onset insomnia and excessive daytime sleepiness Patients sleep normally if allowed to follow their internal circadian rhythm and sleep until late morning
Genito-pelvic pain/penetration disorder Risk factors include: sexual trauma, lack of sexual knowledge, and h/o abuse Clinical features include: pain w/ penetration, distress/anxiety over symptoms , and no other medical cause Treatment will include desensitization and kegel exercises
Antepartum fetal surveillance Nonstress test o Description external fetal HR monitoring for 20-40 minutes Normal = reactive (≥2 accelerations) o
Abnormal = nonreactive (<2 accelerations) or recurrent variable or late decelerations Biophysical profile o Nonstress tests plus US assessing: amniotic fluid volume, fetal breathing, fetal movement, and fetal tone 2 points per category if normal, 0 points if abnormal o Normal = 8 or 10 points o Abnormal = <8 Could signify oligohydramnios Contraction stress test o External fetal HR monitoring during spontaneous or induced uterine contractions o Normal = no late or recurrent variable decelerations o Abnormal = Late decelerations with >50% of contractions Doppler sonography of the umbilical artery o Evaluation of umbilical artery flow in fetal intrauterine growth restriction only o Normal = high-velocity diastolic flow in umbilical artery o Abnormal = decreased, absent, or reversed end-diastolic flow o
Boerhaave syndrome Results from an esophageal transmural tear o Caused by forceful retching (increased pressure) o Will lead to esophageal air / fluid leakage into nearby areas (e.g. pleura) Presentation can include the following: o Vomiting, retching, chest & upper abdominal pain o Odynophagia, fever, dyspnea, & septic shock (can occur) Subcutaneous emphysema can occur o Labs/Imaging CT or contrast esophagography WITH gastrograffin will confirm diagnosis o o CXR will show pneumomediastinum & pleural effusions Pleural fluid analysis will be: exudative, low pH, very high amylase (>2,500) o Treatment depends on where the performation occurs: o Cervical, can use conservative measures Thoracic, must do surgery! o
Acute intermittent porphyria A hereditary disorder involving alterations in heme biosynthesis Characterized by intermittent neurovisceral symptoms o Common presentation can include new onset psych and neuro abnormalities along with unexplained acute abdominal pain Common symptoms: o Abdominal pain, is neuropathic, and abdominal exam is commonly negative o Others include: n/v, constipation, neuropathies (sensory and motor), and tachycardia
Psych symptoms may include: anxiety, insomnia, mood changes, psychosis Lab findings will reveal an elevated urinary porphobilinogen o
Acute bacterial sinusitis Diagnostic features include: o Persistent symptoms ≥ 10 days OR o Severe symptoms, fever ≥39/102, nasal discharge, or face pain ≥ 3 days OR o Worsening symptoms ≥ 5 days after initially improving Common organisms: S. pneumo, H. influenza, and then Moraxella o Treatment is w/ amoxicillin-clavulanic acid (due to increasing ß-lactamase resistance)
Spinal cord compression Causes include: spinal injury, malignance, and infection S/S include: o Pain worse at night (or lying in recumbent position) o Gradually worsening severe local back pain o Early Symmetric LE weakness, hypoactive/absent deep-tendon reflexes o Late B/l Babinski reflex, decreased rectal sphincter tone, increased DTRs Patient will have S/S of UMN dysfunction distal to compression site Management includes an: emergency MRI, IV glucocorticoids, and a radiation-oncology & neurosurgery consult
Cyanotic heart disease in newborns TGA o Examination will reveal a single S2 +/- VSD murmur o X-ray will be a “narrow mediastinum” / “egg-on-a-string” ToF o Exam will reveal harsh pulmonic stenosis murmur along with a VSD murmur o X-ray will show a “boot-shaped” heart (from RVH) Tricuspid atresia o Examination will reveal a single S2 + VSD murmur o X-ray will show minimal pulmonary blood flow Truncus arteriosus o Examination will reveal a single S2 with a systolic ejection murmur (increased flow through truncal valve) o X-ray will show increased pulmonary blood flow, edema TAPVR o Exam will show severe cyanosis along with respiratory distress o X-ray will show pulmonary edema, “snowman” sign (enlarged supracardiac veins & SVC)
Tetralogy of Fallot
Is the most common cyanotic congenital heart defect Has 4 characteristic anomalies o RVOT obstruction (pulmonary stenosis or atresia) Degree will determine clinical presentation o RVH o Overriding aorta o VSD Patients can develop a dramatic spasm hypercyanotic, hypoxic “tet” spell Tx = squatting/knee-chest position o o Works by increasing systemic vascular resistance, increased pulmonary blood flow, and improves hypoxemia
Choriocarcinoma Risk factors include: advanced maternal age, prior complete hydatiform mole S/S include: amenorrhea or AUB, pelvic pain, uterine mass, elevated ß-hcg o Symptoms of pulmonary metastases chest pain, hemoptysis, and dyspnea Treatment is with chemotherapy
Chorioamnionitis Risk factors include: PROM, prolonged labor, internal fetal or uterine monitoring devices, presence of genital tract pathogens Diagnosis is a maternal fever ≥38/100.4 plus 1 of the following o Maternal tachycardia >100, uterine tenderness, malodorous/purulent amniotic fluid or vaginal discharge, WBC ≥15k o Fetal tachycardia >160 o Uterine tenderness o Malodorous/purulent amniotic fluid or vaginal discharge o WBC ≥15k Treatment is with broad-spec abx and delivery! There are both maternal neonatal complications to be aware of: o Maternal uterine atony, PPH, endometritis o Neonatal prematurity, infxn, encephalopathy, cerebral palsy, death
Abnormal uterine bleeding Defined as menstrual bleeding <21 days or >45 days apart In adolescents who have recently undergone menarche, immaturity of hypothalamicpituitary-ovarian axis fails to produce appropriate quantities/ratios of GnRH (so LH and FSH) to induce ovulation o As a result, during 1st few years of post-menarche, the majority are anovulatory presenting as painless, irregular, heavy bleeding
Exercise-induced hypothalamic amenorrhea Clinical presentation includes:
Strenuous exercise, relative caloric deficiency, stress fractures, amennorhea, infertility Lab values will indicate a decreased GnRH, decreased FSH/LH, decreased estrogen Consequences include a decreased bone density and increased cholesterol/trigs Treatment is with increased calories, calcium / vitamin D, and estrogen o
Glioblastoma multiforme S/S can include: n/v as well as a HA that changes w/ position, coughing and sneezing o Other symptoms can be present depending on location For example, if in frontal lobe, will have personality changes and strange behavior CT/MRI findings will show a “butterfly” appearing tumor with central necrosis o Will have a heterogenous, serpiginous contrast enhancement
Medulloblastoma Is the 2nd MC posterior fossa tumor in children (after cerebellar astreocytoma) Vast majority occur in the cerebellar vermis o Particularly important for balance and coordination Due to the proximity to 4 th ventricle, can results in obstructive hydrocephalus and S/S increased ICP (e.g. headache, vomiting)
Craniopharyngioma Are suprasellar masses Can create pressure on: Chiasm causing bitemporal hemianopsia o Pituitary causing endocrinopathies (e.g. short stature) o
Meningioma Presents as a extra-axial well-cicumscribed or round homogenously enhancing duralbased mass on MRI o These tumors usually undergo calcification and can appear hyperdense on noncontrast head CT Considered to be benign 1˚ brain tumors arising from meningothelial cells and more commonly found in middle-age to elderly women S/S will depend on size: o If become large, can cause neuro sx (e.g. headache, seizure, focal weakness/numbness) and cause mass effect Diagnosis is confirmed intraoperatively Treatment is complete resection (in symptomatic patients) and typically leads to complete cure
Congenital hypothyroidism Most commonly caused by thyroid dysgenesis
Other causes include: inborn errors of thyroxin synthesis and transplacental maternal thyroid-receptor blocking antibodies S/S include: lethargy, hoarse cry, poor feeding, constipation, dry skin, large fontanelles, large tongue, umbilical hernia o Other signs include pathologic jaundice, difficulty breathing, refractory microcytic anemia Diagnosis is with an elevated TSH, decreased free T4 o Most will be identified by newborn screening Treatment is with levothyroxine o
Selective estrogen receptor modulators Drugs included in this class are tamoxifen and raloxifene MOA is a competitive inhibitor of estrogen binding o Also has mixed agonist/antagonist action Uses o Both are used for prevention of breast cancer Tamoxifen is also used as adjuvant breast cancer tx Raloxifen is also used for postmenopausal osteoporosis SE include hot flashes and VTE o Tamoxifen also carries a risk of endometrial hyperplasia & carcinoma Due to agonist at uterus
Creutzfeldt-Jakob disease Will present as a rapidly progressive dementia Has 2 out of 4 of the following features: o Myoclonus o Akinetic mutism o Cerebellar or visual disturbance o Pyramidal/extrapyramidal dysfunction (hypokinesia) EEG can have period sharp waves CSF assay will have positive 14-3-3 Definitive diagnosis includes the above symptoms w/: Brain biopsy = gold standard o o Demonstrated PRNP gene mutations
Periotonsilar abscess S/S include: fever, pharyngeal pain, and earache Examination can reveal: Trismus (spasm of the jaw muscles) o o Muffled “hot potato” voice Swelling of peritonsillar tissues with deviation of uvula to CL side o Treatment will involve aspiration or I&D w/ abx therapy o Abx to gover Group A hemolytic strep and respiratory anaerobes
Epithelial ovarian carcinoma Will occur primarily in postmenopausal women o Those with BRCA mutation carrier are particularly susceptible Clinical presentation will vary: o Acute SOB, obstipation/constipation w/ vomiting, abdominal distension o Subacute pelvic/abdominal pain, bloating, early satiety o Asymptomatic adnexal mass Labs may show an increased CA-125 US findings include a solid mass, thick septations, and ascites o Remember that pelvic ultrasonography = 1st line for palpable adnexal mass Mangement is with ex lap o With cancer resection, staging, and abdominal cavity i nspection o Pelvic and paraaortic lymph nodes will be dissected
Dermoid ovarian cyst (mature cystic teratoma) Common benign germ cell tumor that occurs in premenopausal women Cyst contents include sebaceous fluid, hair, teeth S/S: o Typically Asx, found as adnexal fullness on routine physical exam o Mau have pelvic pain or pressure U/S findings include hyperechoic nodules and calcifications Treatment is with surgical removal Complications include an increased risk of ovarian torsion o Twisting will be around infundibulopelvic or utero-ovarian ligament o Ovary will become ischemic and eventually necrose o Treat with immediate surgical detorsion
Luteoma One of the MCC of hyperandrogenism in pregnancy Appear as solid masses on U/S with 50% being bilateral Complication can induce virilization in female fetuses Will regress spontaneously after delivery
Theca luteum cyst Another common cause of hyperandrogenism in pregnancy Will appear as b/l ovarian cysts on U/S Are associated w/ molar pregnancy & multiple gestation Unlike luteoma, they are NOT associated with fetal virilization
Hydrocele Fluid collection within processus or tunica vaginalis Can be communicating or non-communicating
Communicating processus vaginalis fails to obliterate, fluid may accumulate o Non-communicating collection of fluid present following obliteration Will transilluminate Treatment o Most will resolve spontaneously by 12 months, can be observed If not resolved, remove surgically o Due to risk of inguinal hernia o
Shoulder dystocia Considered the inability to deliver fetal shoulders with usual obstetric maneuvers after head delivers It is an obstetric emergency due to risk of neonatal brachial plexus injury, fracture, and if prolonged, hypoxic brain injury & death Risk factors include: Fetal macrosomia (major risk factor) o Maternal obesity o o Excessive pregnancy weight gain o Gestational diabetes o Post-term pregnancy Warning signs = protracted labor, turtle sign (retraction of fetal head into perineum) Management is to BE CALM o B = breathe, do NOT push o E = elevate hips against abdomen (e.g. McRoberts positions) o C = call for help o A = apply surprapubic pressure o L = EnLarge vaginal opening with episiotomy o M = maneuvers Deliver posterior arm Corkscrew rotate 180˚ (corkscrew) Rubin collapse anterior shoulder Zavanelli replace fetal head into pelvis for C-section
Gestational diabetes ALL women should be screened at 24-28 weeks o Those at high risk should undergo earlier screening and again at 24 -28 weeks Risk factors include: obesity, previous GDM, previous macrosomic infant Target BG levels include: o Fasting ≤95 o 1-hour postprandial ≤140 o 2-hour postprandial ≤120 Treatment is with: o 1st line dietary modification o 2nd line insulin, metformin, glyburide
insulin does NOT cross placenta
Pancoast tumor Presentation is most commonly with shoulder pain Other clinical findings can include: Horner syndrome o C8-T2 involvement o o Supraclavicular lymph node enlargement o Weight loss
Digoxin toxicity Can cause a wide variety of side effects o Cardiac Life-threatening arrhythmias o GI anorexia, n/v, abd pain o Neurologic fatigue, confusion, weakness, color vision alterations Also interacts with a handful of drugs, that can either increase or decrease digoxin levels o Amiodorone (or verapamil, quinidine, and propafenone) can increase levels eventually leading to toxicity Recommended that the digoxin dose be decreased 25-50% when initiating amiodarone therapy, with close monitoring of levels once weekly for next several weeks
Phenylketonuria Is an autosomal recessive mutation in phenylalanine hydroxylase Tyr o Causes a failure to convert Phe o Results in hyperphenylalanemia and neurologic injury Features include a severe intellectual disability, seizures, musty body odor, and hypopigmentation (involving skin, hair, eyes, & brain nuclei) Diagnosis is with a newborn screening (tandem mass spec) or a quantitative amino acid analysis (demonstrates increased Phe) Treatment is with Phe dietary restriction
Dumping syndrome Caused by a loss of normal action of pyloric sphincter o Results in rapid emptying of hypertonic gastric contents into the duodenum and small intestine o Causes fluid shifts from intravascular space to small intestine hypotension, autonomic stimulation, and release of intestinal vasoactive polypeptides Symptoms include: o Abdominal pain, diarrhea, nausea o Hypotension and tachycardia o Dizziness/confusion, fatigue, diaphoresis
Timing is typically 15-30 minutes after meals Management is with dietary modification (frequent small meals, avoid simple sugars, increase fiber & protein) o Will eventually diminish over time
Flail chest Pathophysiology is ≥3 contiguous ribs fractured in ≥ 2 locations Findings will include a paradoxical motion with respiration as well as chest pain CXR will show rib fractures +/- contusion/hemothorax Management is with pain control and supplemental O2 o PPV +/- chest tube if respiratory failure
Hemophilia A & B An X-linked recessive disease that is due to a factor VIII and IX deficiencies, respectively Key features include delayed/prolonged bleeding after mild trauma or procedure which can results in: Hemarthrosis, hemophilic arthropathy o Arthropathy is a late complication, believed to be caused by iron/hemosiderin deposition synovitis and fibrosis o IM hematomas o GI or GU bleeding Labs would include a prolonged aPTT and a normal platelet count, BT, PT o Would have a decreased or absent factor VIII (A) or IX (B) activity Treatment is with administration of factor deficiency Desmopressin in mild hemophilia A o
Lacunar stroke Small, subcortical infarcts resulting from occlusion of deep penetrating branches of cerebral arteries Affected areas typically include the basal ganglia, subcortical white matter , and pons MC association = chronic HTN hypertensive vasculopathy o Other risk factors include: DM, smoking, increased age, and increased LDLC
Small intestinal bacterial overgrowth (SIBO) Caused by anatomical abnormalities and motility disorders S/S include o Abd pain, diarrhea, bloating, flatulence o Malabsorption, weight loss, anemia (macrocytic), vitamin deficiency Diagnosis is with jejunal aspirate & culture or a carbohydrate breath test o Aspirate > 105 organisms/mL
o
Organisms are often streptococci, bacteroides, Escherichia, lactobacillus Treatment is with abx , dietary changes, and promotility agents
Impetigo Non-bullous o Micro S. aureus or GAS o S/S include honey-crusted lesions that are painful non-pruritic pustules Bullous o Micro S. aureus o S/S include rapidly enlarging bullae with yellow fluid and will also have the typical honey-crusted lesions Treatment will depend on severity o Limited skin involvement tx with topical abx (e.g. mupirocin) o Extensive skin involvement tx with oral abx (e.g. cephalexin, dicloxacillin, clindamycin)
Postcholecystectomy syndrome (PCS) Persistent abdominal pain or dyspepsia that occurs either post-op or months-years after cholecystectomy Can be due to biliary (e.g. retained CBD or CD stone, dyskinesia) or extra-biliary (e.g. pancreatitis, PUD, CAD) causes Patient will typically complain of same pain prior to surgery Labs can include elevated ALP, AST, ALT, and a dilated CBD o Would suggest biliary cause Testing could include doing an endoscopic US, ERCP, or MRCP
Erysipelas Skin infection of the upper dermis and superficial lymphatic system Most commonly caused by group A streptococcus Rash will be warm, tender, and erythematous with raised, sharply demarcated borders Diagnosis is typically made by clinical findings o Obtain blood cultures when extensive rash, underlying comorbidities Treatment depends on severity o Limited involvement oral abx (e.g. amoxicillin) o Systemic involvement IV abx (e.g. ceftriaxone, cefazolin)
Acute severe anemia in sickle cell disease Aplastic crisis o RI will be low o Key features include: transient EPO arrest and 2/2 infxn (e.g. parvovirus B19) o Anemia will be severe and present with pallor, weakness, fatigue, as well as a functional systolic murmur (due to hyperdynamic blood flow) Splenic sequestration crisis RI will be high o rapidly enlarging spleen o Key features include: splenic vasoocclusion
Will occur in children prior to autosplnectomy
Shy-Drager syndrome Results in multiple system atrophy, characterized by: o Parkinsonism o Autonomic dysfunction o Widespread neurological signs Always consider when a patient with Parkinsonism experiences orthostatic hypotension, impotence, incontinence, or other autonomic symptoms
Positive pressure mechanical ventilation Can cause an acute increased Intrathoracic pressure In the setting of decreased CVP (e.g. hypovolemic shock), the initiation of mechanical cardiac arrest ventilation, can cause acute loss of RV preload, loss of CO o Also sedatives used prior to intubation cause relaxation of venous capacitance vessels and can contribute to decreased venous return
Penile fracture Results from rupture of corvus cavernosum due to traumatic tear in tunica albuginea o Most frequently encountered when penis is in erect state Patients typically experience an audible snapping, detumescence, and pain o A hematoma forms rapidly, causing bending at the site of fracture Retrograde urethrogram is employed in causes of suspected urethral injury: o Blood at meatus o Hematuria o Dysuria o Urinary retention
Hemoglobin electrophoresis patterns Normal 99% hbA, 0% hbS, <1% hbF Sickle cell trait 50-60% hbA, 35-45% hbS, <2% hbF Sickle cell disease 0% hbA, 85-95% hbS, 5-15% hbF
Syphilis in pregnancy Screening is at the first prenatal visit o If high risk, check again at third trimester and delivery Serologic tests include RPR / VRDL and a confirmatory FTA-ABS (if initial is positive) Treatment is with IM PCNG Pregnancy effects include intrauterine fetal demise and PTL Fetal effects include a variety: o Hepatic hepatomegaly, jaundice o Hematologic hemolytic anemia, decreased platelets o MSK long bone abnormalities
o
FTT
Legionella pneumonia Arises from contaminated water (e.g. hospital, travel) Clinical S/S include: fever, relative bradycardia, GI complaints (n/v, diarrhea, cramps), as well as pulmonary symptoms CXR will show lobar infiltrate Labs and testing o Patient may have hyponatremia o Sputum gram stain will show PMNs, few/no organisms Urine legionella antigen o Treatment is with respiratory fluoroquinolone (e.g. levofloxacin) or macrolide
Metatarsus adductus Considered the most common congenital foot deformity Characterized by medial deviation of forefoot with normal neutral position of hindfoot o Deformity is usually bilateral >90% cases are characterized by flexible feet that overcorrect both passively and actively into lateral deviation Most common form will correct spontaneously
Congenital clubfoot Characterized by medial/upward deviation of BOTH forefoot & hindfoot as well as rigid positioning o Will also have hyper-plantar flexion of foot Treatment is with serial manipulation & casting o Proceed with surgery for refractory cases
Chronic granulomatous disease A primary immunodeficiency that is caused by a mutation that prevents phagocytic oxidative burst o Results in impaired intracellular killing by phagocytes Clinical findings: o Patients with recurrent pulmonary and cutenous infections o An increased susceptibility to catalase + organisms (e.g. staph aureus, serratia, burkholderia, aspergillus) Diagnosis is made by testing neutrophil function via detection or absence of oxidative burst (e.g. dihydrorhodamine 123 or NBT) Patients should receive lifelong abx prophylaxis o Can use IFN gamma to boost intracellular killing in severe cases
Friedreich ataxia
The most common type of spinocerebellar ataxias and has an autosomal recessive pattern S/S include: Neurological symptoms (e.g. ataxia, falling, dysarthria) dysarthria ) o tracts (e.g. spinocerebellar, posterior Results from degeneration of spinal tracts (e.g. columns, pyramidal tract) Non-neurological such as concentric HCM, DM, skeletal deformities (e.g. deformities (e.g. o scoliosis, hammer toes) Cardiomyopathy will develop in 90% patients MCC of death are CM and respiratory complications
Dacryocystitis An infection of lacrimal sac Usually occurs in infants and infants and adults >40 Acute bout is characterized by the sudden onset of pain and redness aureus and ß-hemolytic strep Common organisms include S. aureus and Treatment is Treatment is with systemic abx
Milk-alkali syndrome alkali (e.g. calcium carbonate Caused by an excessive intake of Ca2+ and absorbable alkali (e.g. preparations used in osteoporotic patients) o Results in renal vasoconstriction and decreased glomerular BF o Inhibition of NKCC and impaired ADH activity loss of sodium and free water hypovolemia and increased reabsorption of bicarbonate S/S include: o N/v/c o Polyuria, polydipsia o Neuropsychiatric symptoms Labs will indicate hypercalcemia, metabolic alkalosis, AKI, and suppressed PTH o Other labs can indicate hypophosphatemia and hypomagnesemia Treatment is to d/c offending agent o Along with isotonic saline f/b furosemide
Treatment of angina & MOA Beta-blockers o First-line therapy o Acts to decrease myocardial contractility and HR Nondihydropyridine CCBs o Alternative as first-line to those that have ß-blocker contraindication o Acts to decrease myocardial contractility and HR Dihydropyridine CCBs o Added to ß-blocker when needed afterload (via vasodilation) o Acts as a coronary a coronary artery vasodilator and decreases afterload (via
Nitrates o Long-acting added for persistent angina o Exert their effect by direct vascular smooth muscle relaxation systemic venodilation and an increased in peripheral venous capacitance o Anti-ischemic effect Decrease preload by dilation of capacitance veins and lowering LV EDV Results in reduced wall stress and myocardial O2 demand Ranolazine o Alternative therapy for refractory angina o Acts to decrease myocardial calcium influx
Gallstone ileus Occurs when a gallstone passes through a biliary-enteric fistula into the small bowel obstruction with diffuse abd pain and vomiting May cause intermittent “tumbling” obstruction with ileum (narrowest section of bowels) o Will eventually lodge in ileum (narrowest S/S include: colicky pain, n/v, constipation, obstipation Most important risk factor is cholecystitis Diagnosis is Diagnosis is confirmed by abdominal CT, CT , which may reveal gallbladder thickening, pneumobilia, and an obstructing stone Treatment is surgical and involves removal of the stone
Vibrio vulnificus Gram-negative bacteria that grows in coastal and marine environments consumption or through wound contamination Infections acquired through raw oyster consumption or Patients who have hemochromatosis = increased risk (free risk (free iron acts as exponential growth catalyst Causes a: o Normally mild cellulitis fasciitis with hemorrhagic bullous lesions o Some patients necrotizing fasciitis with Treatment is Treatment is with IV ctx + doxy Pertussis Caused by bordatella pertussis whooping cough Multiple clinical phases Catarrhal: Catarrhal: lasts 1-2 wks ; wks ; s/s cough, rhinitis o Paroxysmal: Paroxysmal: lasts 2-6 wks ; s/s cough with cough with inspiratory “whoop,” post emesis o o Convalescent: Convalescent: lasts months: months: s/s will gradually improve Diagnosis is Diagnosis is with a pertussis culture or culture or PCR Treatment is Treatment is with macrolides Prevention is with vaccine
Neonatal conjunctivitis
Chlamydial o Less severe than gonococcal o Presents at age 5-14 days o Results in milder eyelid swelling and watery discharge Gonococcal severe form o The most severe form o Present at age 2-5 days o S/S include edema, purulent exudate, exudate, and chemosis o If left untreated, can progress to ulceration, scarring, and blindness o Treatment is Treatment is with IM 3rd gen ceph (e.g. cefotaxime, ceftriaxone) o Prevention is with erythromycin ointment Chemical o Usually occurs w/in 24 hours o Most common in neonates given silver nitrate o Generally mild and does NOT result in purulent discharge
Shock
Hypovolemic o Characteristics PCWP (e.g. preload), due to decreased volume Low RA pressure & PCWP (e.g. Elevated SVR (e.g. afterload), in attempt to bring volume back Cardiogenic o Characteristics Have decreased cardiac contractility, contractility , typically from LV dysfunction Have elevated PCWP and RA pressure (e.g. afterload) due to volume overload Compensatory elevation in SVR Due to the decreased CO = CO = lower perfusion, perfusion, resulting in tissues attempting to extract more oxygen decreased MvO2 Neurogenic o Characteristics CNS injury causes poor vagal tone and tone and reduction in SVR Typically, will have bradycardia, bradycardia, due to impaired sympathetic response MvO2 is typically low; low ; improved peripheral extraction due to lower flow Septic o Characterized by: Decreased SVR (e.g. afterload) due to peripheral vasodilation Low/normal PCWP (e.g. preload) due to capillary leakage Elevated MvO2 sat due sat due to hyperdynamic circulation With an inability of tissues to extract oxygen May develop lactic acidosis from tissue hypoperfusion
Mumps
Most common in school-age children and s/s can be most severe in adolescents & adults Presents with parotitis and fever after nonspecific prodrome Common complications include: o Aseptic meningitis (most common) HA, fever, nuchal rigidity o Orchitis can results in infertility
TBG concentration Increased can result from estrogens, hepatic dysfunction, medications o Estrogens (e.g. pregnancy, OCPs, HRT) o Heaptic (e.g. acute hepatitis o Mes (e.g. tamoxifen) Decreased can results from hormonal abnormalities, hypoproteinemia, medications o Hormonal (e.g. Cushing, GCs) o Hypoproteinemia (e.g. nephrotic, starvation) o Meds (e.g. niacin, high-dose androgens)
Laryngomalacia Results from an increased laxity of supraglottic structures Presentation will be with an inspiratory stridor (worsened with supine) o Typically peaks at 4-8 months Diagnosis is usually clinical but confirmation with laryngoscopy o Largyngoscopy findings include an omega-shaped epiglottis with supraglottic collapse during inspiration Management is typically reassurance or a supraglottoplasty for severe
Presepta vs. Orbital cellulitis Both will have S/S of: edema, erythema, tenderness, fever, and leukocytosis Orbital cellulitis will also have ophthalmoplegia, pain w/ extraocular movements, proptosis, and vision impairment (e.g. diplopia) o Dangerous complications include blindness and intracranial infections o MC predisposing factor = bacterial sinusitis
Takayasu arteritis Risk factors include female, Asian, ages 10-40 S/S can be constitutional (e.g. fever, weight loss) as well as arterio-occlusive in UE, and arthralgias/myalgias Physical exam would reveal BP discrepancies, pulse deficits, and arterial bruits Diagnosis is with elevated inflammatory markers as well as imaging o CXR will show aortic dilation and widened mediastinum o CT/MRI will show wall thickening and lumen narrowing Treatment is with systemic glucocorticoids
Osteomalacia
Causes include: malabsorption, bypass surgery, celiac sprue, liver disease, CKD S/S include: bone pain, muscle weakness and cramps, difficulty walking o May also be asymptomatic Labs will include increased ALP, increased PTH, decreased serum calcium and phosphorus, decreased 25 OH-vit D o Leads to inadequate mineralization of the matrix X-ray may show thinning of cortex with reduced bone density o Characteristic radiographic finding includes b/l & symmetrical pseudofractures
Wernicke encephalopathy Associated conditions: chronic alcoholism, malnutrition, hyperemesis gravidarum Pathophysiology is via thiamine deficiency Clinical features include encephalopathy, oculomotor dysfunction (e.g. horizontal nystagmus, b/l abducens palsy), and ataxia Treatment is with IV thiamine followed by glucose infusion
Brain abscess Common organisms include: viridans strep, s.aureus, and gram-negative organisms Pathogenesis can be: o Direct from adjacent infection sinusitis, otitis, dental infection o Hematogenous endocarditis, osteomyelitis S/S include: headache, fever, FND Imaging (CT or MRI) will show ring enhancing lesion w/ central necrosis
Human chorionic gonadotropin (hCG) Hormone that is secreted by syncytiotrophoblast Mainly responsible for preservation of the corpus luteum in early pregnancy o In order to maintain progesterone secretion until placenta is able to produce on its own Production of hCG beings ~8days after fertilization and values will double every 48 hours until they peak at 6-8 weeks gestation o Composed of two subunits Alpha common to hCG, TSH, LH, and FSH Beta used as basis of pregnancy tests
Fetal alcohol syndrome (FAS) One of the leading preventable causes of birth defects & neurodevelopmental problems Characterized by 3 pathognomonic facial dysmorphisms o Small palpebral fissures Smooth philtrum (vertical groove above the upper lip) o Thin vermillion border o o May also have microcephaly
Atopic dermatitis and it’s infectious complications Classically presents as dry, thickened skin in the antecubital and popliteal fossae o Younger children often develop dry, scaly, erythematous skin on extensor surfaces and cheeks Due to inflammation and excoriation, patients are at an increased risk of developing superimposed viral, bacterial, and fungal skin infections which include: Impetigo o Caused by S.aureus & S.pyogenes Presents as painful, non-pruritic pustules with honey-crusted adherent coating o Eczema herpeticum Caused by HSV-1 Presents as painful vesicular rash with “punched out” lesions and a hemorrhagic crusting (e.g. dark red) Molluscum contagiosum o Caused by poxvirus Presents as flesh-colored papules with central umbilication o Tinea corporis Caused by Trichophyton rubrum Presents as a pruritic circular patch with central clearing and raised, scaly border
Wolf-Parkinson-White An accessory pathway conducts depolarization directly from the atria to the ventricles w/o traversing the AV node Atrial fibrillation occurs in 10-30% of WPW individuals o Persistent AF w/ RVR in WPW patients can deteriorate into VF o Acute treatment of AF is aimed at prompt control of ventricular response In hemodynamically unstable, patients require immediate electrical CV In stable patients, rhythm control with anti-arrhythmic drugs such as IV ibutilide or procainamide is preferred AV nodal blockers (i.e. ß-blockers, digoxin, and adenosine) should be AVOIDED because they can cause increased conduction through accessory pathways
Polymyalgia rheumatic Characteristic features are: age > 50, b/l pain & morning stiffness, as well as involvement of 2 of the following (neck/torso, shoulders/prox arms, prox thigh/hip, constitutional) Physical exam will reveal decreased active ROM in shoulders, neck & hips Labs will show an elevated ESR, elevated CRP as well as possible normocytic anemia o ~20% can have normal studies Treatment is with glucocorticoids (e.g. prednisone) NOTE that it is frequently associated with GCA if suspected, consider TA biopsy
Entamoeba histolytica Risk factors are developing nations, contaminated food/water, and fecal-oral sexual transmission S/S most will be asymptomatic, while others may have colitis or develop liver abscess Liver abscess occurs when E.histolytica spreads from colonic mucosa liver via o portal vein Symptoms are subacute and include RUQ and fever As well as hepatomegaly and elevated transaminases Imaging will show single subcapsular cyst in the right hepatic lobe Diagnosis is with stool ova/parasite (colitis) and serology (abscess) Treatment is with metronidazole and intraluminal abx (e.g. paromomycin)
Echinococcus granulosus Is a dog tapeworm (sheep = intermediate host) present in rural, developing countries Liver cyst = most common o Mass effect RUQ pain, n/v, hepatomegaly o Rupture fever, eosinophilia Diagnosis is with imaging, will show a hydatid cyst w/ internal septations o Also can use IgG E.granulosus serology Treatment is with albendazole o If >5cm cyst or many septations, can do percutaneous therapy o If ruptured, do surgery
Immunosuppresants Azathioprine o Purine analog that is enzymatically converted to 6-mercaptopurine o Acts primarily by inhibiting purine synthesis o Major side effect is dose-related diarrhea, leukopenia, and hepatotoxicity Calcineurin-inhibitors (e.g. cyclosporine, tacrolimus) o Cyclopsorine has side effects of nephrotoxicity, hyper[K], HTN, gym hypertrophy, hirsutism, and tremor o Tacrolimus has similar side effects except hirsutism and gum hypertrophy Mycphenolate o Reversible inhibitor of IMPDH, which is rate-limiting enzyme in de novo purine synthesis o Major side effect/toxicity is bone marrow suppression
Acute glaucoma Is considered a medical emergency, caused when canal of Schlemm gets blocked and aqueous humor cannot be drained Patients will present with sudden eye pain, decreased visual equity, headache, injection
The goal of treatment is to reduce intracranial pressure 1st line is IV mannitol, and osmotic diuretic that works immediately o Acetazolamide is a CA inhibitor that reduces aqueous humor production o decreased ICP o Pilocarpine acts to open canals of Schlemm and allows for drainage o Timolol is a ß-blocker that acts to decrease production of aqueous humor Should AVOID mydriatic agents (e.g. atropine) can WORSEN glaucoma o Sometimes atropine can precipitate glaucoma
Ludwig angina A rapidly progressive cellulitis of the submandibular space Most cases arise from dental infections in mandibular molars that spread contiguously down the root into submylohyoid sublingual space Infections is typically polymicrobial with oral aerobic (e.g. strep viridans + anaerobic) S/S include: systemic (fever, chills, malaise), and local (e.g. mouth pain, droolying, airway compromise) o Submandibular area is tender and indurated and the mouth floor is usually elevated, which will displace tongue (superior and posterior) CT scan will confirm diagnosis Treatment is with IV abx (e.g. amp-sulbactam, clindamyicin) and removal of tooth
Cerebral cortex atrophy Diffuse Alzheimer’s Caudate Huntington’s Lenticular Wilson’s Frontal and/or Temporal Pick’s
Small for gestational age Have a birth weight under 10th percentile Usually have intrauterine growth restriction height, weight, and head circumference equally affected Risk factors include: o Maternal preeclampsia, malnutrition, placental insufficiency, multiparity, or drug use o Fetal genetic factors, chromosomal abnormalities, congenital infections, and inborn errors of metabolism Complications can include: hypoxia, polycythemia, hypoglycemia, hypothermia , and hypocalcemia o Polycythemia is from increased EPO secretion in response to fetal hypoxemia
Neonatal polycythemia Definition is with a Hct >65% in term infacts Causes include:
Increased erythropoiesis from intrauterine hypoxia: maternal DM, HTN or smoking as well as IUGR o Erythrocyte transfusion: delayed cord clamping, twin-twin transfusion o Genetic/metabolic disease: hypo/hyperthyroidism, genetic trisomy (13, 18, 21) Clinical presentation is typically Asx, but symptoms can include ruddy skin, hypoglycemia, hyperbilirubinemia, respiratory distress & cyanosis, irritability, abdominal distension Treatment is with IVF, glucose, partial exchange transfusion o
Hyperemesis gravidarum Risk factors include: Hydatidiform mole, multifetal gestation, h/o HG Clinical features include: severe persistent vomiting, >5% loss pregnancy weight, dehydration, orthostatic hypotension Labs may show: ketonuria, hypoglycemia, as well as a hypokalemic hypochloremic metabolic alkalosis o Ketonuria occurs due to prolonged hypoglycemia resultant ketoacidosis o Volume loss causes a contraction metabolic alkalosis with activation of RAAS Treatment is with admission to hospital (if severe), antiemetics, and IVF
Endometriosis Pathogenesis is via ectopic implantation of endometrial glands Clinical features include: dysmenorrhea, dyspareunia, dyschezia, and pelvic pain o One of the leading causes of infertility Physical exam will reveal a immobile uterus, cervical motion tenderness, adnexal mass, as well as nodules (recto-vaginal septum, posterior cul-de-sac, & uterosacral ligaments) Diagnosis is with direct visualization and surgical biopsy Treatment is medically (OCPs, NSAIDs) and surgical resection o Resection typically improves contraception rate
Preeclampsia Diagnosis = new-onset HTN at ≥20 weeks + proteinuria and/or end-organ damage Risk factors include: multiple gestation, nullparity, preexisting DM, advanced age, CKD, h/o preeclampsia Severe features include: o SBP ≥160, DBP ≥110 o Elevated transaminases o Increased creatinine o Pulmonary edema o Thrombocytopenia Management is dependent on what is happening: W/o severe features delivery at ≥37 weeks o W/ severe features delivery at ≥34 weeks o Magnesium sulfate should be given for seizure prophylaxis (e.g. eclampsia) o
Complications can arise for both the mom and child: Fetal includes putting the fetus at risk for chronic uteroplacental insufficiency o Can lead to FGR/LLBW even if delivered at term Maternal includes placental abruption, DIC, and eclampsia o
HELLP syndrome Clinical features include preeclampsia, n/v, RUQ o Severe liver problems can occur including: centrilobular necrosis, hematoma formation, and thrombi in portal capillary system Cause liver swelling and Glisson’s capsule distension Results in presentation of RUQ and epigastric pain Labs include a microangiopathic anemia, elevated liver enzymes, and low platelets Treatment is with delivery, magnesium (for seizure prophylaxis), anti-hypertensives
Ovarian torsion Risk factors include: ovarian mass, women of reproductive age, infertility tx with ovulation induction Presentation is w/ sudden-onset unilateral pelvic pain, n/v o Can present with palpable adnexal mass US will show adnexal mass w/ absent doppler flow Treatment is with laprasocopy w/ detorsion or ovarian cystectomy o Should do an oophorectomy if necrosis or malignancy
Postoperative endophthalmitis MC form of endophthalmitis Usually occurs w/in 6 weeks of surgery Patients usually present with pain and decreased visual acuity Exam reveals: swollen eyelids and conjunctiva, hypopyon, corneal edema , and infection o Hypopyon = exudate in chamber Based on severity intravitreal abx injection or vitrectomy
Transfusion reactions Febrile non-hemolytic o The most common reaction o Patient presents with fever and chills, and occurs w/in 1-6 hours of transfusion o Caused by cytokine accumulation during blood storage Acute hemolytic o Patient presents w/ fever, flank pain, hemoglobinuria, renal failure, & DIC o Occurs w/in 1 hour o Lab findings will reveal a positive Coombs test o Caused by ABO incompatibility Delayed hemolytic
Patient will have a mild fever & hemolytic anemia o Presents w/in 2-10 days of transfusion o Patient will have a positive Coombs and positive new Ab screen o Caused by an anamnestic antibody response Anaphylactic o Patient will have a rapid onset shock, edema/urticarial, resp distress o Will occur within SECONDS-minutes of transfusion o Caused by recipient anti-IgA antibodies Urticarial/allergic o Patient presents with urticarial, flushing, edema, pruritus o Occurs w/in 2-3 hours of transfusion o Caused by recipient IgE antibodies along with mast cell activation TRALI o Patient will present with resp distress & noncardiogenic pulmonary edema o Occurs w/in 6 hours of transfusion o Caused by donor anti-leukocyte antibodies o
Indications for specialized RBC treatments Irradiated o BMT recipients o Acquired or congenital immunodeficiency o Blood components donated by 1 st of 2nd degree relatives Leukoreduced o Chronically transfused o CMV seronegative at-risk patients (e.g. AIDS, transplant patients) o Potential transplant recipients o Previous febrile nonhemolytic transfusion rxn Washed o IgA deficiency o Complement-dependent autoimmune hemolytic anemia o Continued allergic reactions (e.g. hives) with RBC transfusion despite antihistamine treatment
Shoulder dislocation Anterior o Is the most commonly dislocated joint due to shallow articulation between humeral head and glenoid fossa o Typically caused by a blow to an externally rotated and abducted arm o MC complication is axillary nerve damage Results in shoulder abduction weakness (via teres minor and deltoid) Also will have sensory deficit in lateral shoulder Posterior
o
o
Occurs when head is forced posteriorly in an internal rotation when arm i s abducted MCC = convulsive disorders, another cause is electrocution Watch out for neurovascular compromise
Atlantoaxial instability Malformation in 10-15% of Down syndrome patients Most commonly occurs due to excess laxity in PTL increased mobility btwn C1 & C2 Symptoms may include: behavioral changes, urinary incontinence, vertebrobasilar s/s o Other findings may include UMN symptoms Diagnosed with lateral C-spine (in flexion, extension, and neutral) Treatment consists of surgical fusion of C1 & C2
Anemia of prematurity Will affect most PT infants, and onset/severity depends on degree of prematurity Results from impaired EPO production = decreased reticulocyte production Labs will indicate low H&H, low RI, and a normocytic normochromic PBS Treatment is with iron supplementation and minimize blood draws o RBC transfusions can be given in Sx patient, but it will further suppress EPO levels and delay recovery o Supplemental EPO is NOT effective in preventing need for transfusions
Cyanide toxicity Etiologies include: compounds (e.g. wool, silk), industrial exposure (e..g metal extraction), and medications (e.g. nitroprusside) Pathophysiology is by binding to cytochrome oxidase and inhibiting mitochondrial oxidative phosphorylation o Cells will then shift to anaerobic metabolism lactic acidosis metabolic acidosis and renal failure S/S include: flushing, AMS, metabolic acidosis along with arrhythmias, tachypnea, pulmonary edema, and abdominal pain (along with others) Treatment is with sodium nitritie, thiosulfate, and hydroxycobalamin
Vasospastic angina Pathogenesis is from hyperactivity of coronary smooth muscle o Underlying mechanism is similar to Raynaud’s phenomenon Presentation: younger patients, h/o smoking, recurrent chest discomfort (occurs at rest, spontaneous resolution ≤15min) Diagnosis is with ST elevation and no CAD on angiography Treatment is with CCBs o Nitrates used for abortive therapy
Milk protein-induced enterocolitis
Risk factors include a fam h/o allergies, eczema, or asthma Clinical features: 2-8 weeks, regurg or vomiting, +/- painless bloody stools, +/- eczema Treatment is two fold and dependent on situation: o Exclusively breastfed elimination of milk & soy from maternal diet o Formula fed initiation of hydrolyzed formula Education should provide reassurance and almost all can tolerate well by age 1 year
Compartment syndrome Common S/S: pain out of proportion, pain increased on passive stretch, rapidly increasing & tense swelling, and early paresthesias Uncommon S/S: decreased sensation, motor weakness, late paralysis, decreased distal pulses Diagnosis is via measurement of compartment pressure >30mmHg o Or delta pressure <20-30 (diastolic blood pressure – compartment pressure) Treatment is to observe and if severe, fasciotomy
Pericarditis Presentations is with a sharp pleuritic chest pain and friction rub ECG will show diffuse ST-segment elevations Etiologies Infection viral is most common o o Iatrogenic surgery, trauma, radiation & drug-related o CTD RA, SLE o Cardiac Dressler syndrome (post MI ~6 weeks) o Uremic Serum BUN ≥60 with renal failure (usually) NOTE, usually doesn’t have the ECG changes associated with Treatment is with hemodialysis Malignancy can be due to cancer or treatment o
Aortic injury Commonly caused by high-energy, blunt, rapid deceleration trauma Death is almost immediate CXR will show a large left-sided hemothorax and widened mediastinum (can we rightward deviating)
Senile purpura Non-inflammatory disorder that is most common in elderly o Can also be seen in younger patients with extensive sunlight exposure Caused by a loss of elastic fibers in perivascular connective tissue Minor abrasion can rupture superficial blood vessels in the elderly, leading to ecchymosis over vulnerable areas
Osteoid osteoma
Benign bone-forming tumor that will most often occur in adolescents and early adulthood Will MC affect proximal femur but can also involve other long bones and the spine Treatment is with NSAIDs and serial X-rays (q4-5 months to monitor)
Vaccines during pregnancy Recommended Tdap, Inactivated influenza, Rho(D) IG For high-risk patients Hep A/B, Pneumo, H.flu, Meningococcus, Varicella-zoster IG Contraindicated HPV, MMR, live attenuated influenza, Varicella
McCune-Albright syndrome Characterized by precocious puberty, café au lait spots, and multiple bone defects (polyostotic fibrous dysplasia) May be associated with other endocrine disorders (e.g. hyperthyroidism, prolactin or GH-secreting pituitary adenomas, and adrenal hypercortisolism) Recently attributed to a defect in G-protein cAMP-kinase function resulting in autonomous activity of that tissue
Small-bowel obstruction Clinical presentation is with colicky abd pain, constipation/obstipation , hyperactive absent BS, as well as a distended & tympanic abdomen Diagnosis can be made with imaging o Will see dilated loops of bowel o Partial air in colon o Complete transition point, no air in colon Complications include ischemia/necrosis (via strangulation) and bowel perforation Management is with bowel rest, NG suction, IVF Surgical exploration should be performed in complicated cases and those with o s/s ischemia or necrosis
Acalculous cholecystitis Risk factors include: severe trauma or recent surgery, prolonged fasting or TPN, and critical illness Presentation is with fever, leukocytosis, increased LFTs, and RUQ pain o Jaundice and RUQ mass is less common Pathophysiology o Likely due to cholestasis and gallbladder ischemia leading to secondary infection by enteric organisms Resultant edema and necrosis of gallbladder Diagnosis is with abdominal U/S o Will reveal GB wall thickening and distension with the presence of pericholecystic fluid o Can do HIDA or CT scan if needed
Treatment is with abx f/u by percutaneous cholecystectomy o Initial drainage can be done via cholecystostomy
Cervical conization Can be performed with scalpel (cold knife conization) or via LEEP procedure Indications include CIN 2 & 3 Complications include cervical stenosis, PT birth, PPROM, 2 nd TM pregnancy loss
Charcot joint Associated conditions include: vitamin B12 deficiency, DM, peripheral nerve damage, spinal cord injury, syringomyelia, tabes dorsalis Manifestation include: deformed joints, decreased sensation w/ loss of neurologic input, arthritis, mild pain, and fractures Imaging may show DJD & loose bodies Management is to tx underlying cause as well as usage of mechanical devices
Antiphospholipid syndrome Diagnosis is made by a variety of factors o Vascular thrombosis (e.g. TIA, stroke, DVT) and/or Pregnancy complications (e.g. recurrent miscarriage) o ≥ 1 of these Abs: anti-cardiolipin, lupus anticoagulant, anti-ß2-glycoprotein o Management is with anticoagulation o Heparin after acute thrombotic event or to prevent thromboembolism o Will require long-term management with warfarin NOTE: In vitro, it will prolong PTT as it binds the phospholipids used in most assays o PTT will NOT correct with mixing study o PTT is an indirect indicator for the presence of LA and highly suggestive in clinical setting Diagnosis is with Russel viper venom assay
Iron poisoning Features are dependent on time of ingestion: o Within 30 minutes, patient will have abdominal pain, vomiting, diarrhea, hypotensive shock, as well as metabolic acidosis o Within 2 days, develop hepatic necrosis o Within 2-8 weeks, develop pyloric stenosis Diagnosis is with a AGMA and radiopaque pills Treatment is with whole bowel irrigation, deferoxamine, and supportive ABCs
Neuroblastoma and Wilms tumor Neuroblastoma o MC cancer in 1st year Third most common pediatric cancer (after leukemia and brain tumors)
Can arise anywhere in the sympathetic nervous system, but it will typically involve adrenals Presents as an abdominal mass that CROSSES midline (esp behind aorta) Can elevate aorta away from vertebral column Patient will have systemic symptoms More common to have extension into chest Calcifications common (vs. Wilms where calcifications are uncommon) o Wilms tumor MC renal malignancy in childhood o Overall is 4th most common childhood cancer o Peak age is 2-5 years o Associated syndromes include: WAGR (Wims tumor, aniridia, GU abnormalities, retardation) Beckwith-Wiedmann syndrome Denys-Drash syndrome o Presentation is an asx, firm, smooth abd mass that does NOT cross midline Can have extension into IVC/renal vein Calcifications uncommon Treatment is with excision (or nephrectomy), chemo +/- radiation o o
Common causes of myopathy CTD poly/dermatomyositis, inclusion body myositis, vasculitis, overlap syndrome Endocrine/metabolic hypothyroidism/thyrotoxicosis, cushing syndrome, electrolytes Drugs/toxins corticosteroids, statins, AZT, colchicine, alcohol, cocaine, heroin Miscellaneous infections, trauma, hyperthermia
Cystinuria Group of disorders characterized by impaired amino acid transport o Problem lies with the defective transport of dibasic amino acids (cysteine, lysine, arginine, and ornithine) by the brush borders of renal tubular and intestinal epithelial cells Cysteine is poorly soluble in water formation of hard, radiopaque renal stone Patients will have a positive urinary cyanide nitroprusside test o Test can detect elevated cysteine levels confirmation of diagnosis Urinalysis will typically show hexagonal stones that are hard and radiopaque
Postpartum endometritis Risk factors include: C-section, chorioamnionitis, GBS colonization, prolonged rupture of membranes, operative vaginal delivery Clinical features include fever >24hrs postpartum, uterine fundal tenderness, and purulent lochia Typically is a polymicrobial infection (so must use broad coverage: anaerobes as well) Treatment is with clindamycin + gentamicin
o o
Should continue until patient is afebrile for >24 hours Further evaluation is indicated if no improvement after 48hrs of abx
Mediastinal masses Anterior: thymoma, retrosternal thyroid, teratoma, and lymphoma Posterior: neurogenic tumors (e.g. meningocele, enteric cysts, ly mphomas, diaphragmatic hernias, esophageal tumors, and aortic aneurysms o MRI is the best modality to assess o Esophageal leiomyomas are submucosal and usually asymptomatic Will only produce symptoms when >5cm; when large, remove Middle: Bronchogenic cysts
Measles (e.g. rubeolo) Transmission is airborne Clinical presentation is: Prodrome cough, coryza, conjunctivitis, Kolik spots) o o Followed by a maculopapular rash that starts at the head and spreads Rash will spare palms and soles Prevention is with live attenuated vaccine Treatment is supportive and vit A for hospitalized
VIPoma Rare tumor affecting the pancreatic cells that produce VIP, typically in pancreatic tail o Can have MEN association (look for parathyroid and pituitary tumors) o VIP binds to intestinal epithelial cells to increase fluid and electrolyte secretion in the intestinal lumen Clinical presentation is with watery diarrhea, achlorhydia (due to decreased acid secretion), as well as associated flushing, lethargy, n/v, muscle weakness Labs will indicate: o Hypokalemia due to increased intestinal potassium secretion o Hypercalcemia due to increased bone resorption o Hyperglycemia due to increased glycogenolysis o Stool studies showing a secretory diarrhea with increased sodium and a osmolar gap <50 Diagnosis is with a VIP >75 Can use an abdominal CT or MRI to localize, typically in pancreatic tail
Pancreatic adenocarcinoma NOTE that painless jaundice = pancreatic cancer until proven otherwise!!! extrahepatic cholestasis When advanced, can obstruct CBP o S/S obstruction include jaundice and pruritus Treatment is usually palliative o Can include endoscopic CBD stent placement to relieve obstruction
Common fibular neuropathy Common fibular nerve (e.g. peronieal nerve) travels near fibular head and is extremely susceptible to compressive injuries (via leg immobilization, prolonged crossing, protracted squatting) S/S include: Unilateral foot drop o o Numbness/tingling over the dorsal foot and lateral shin o Impaired ankle dorsiflexion as well as great toe extension Patients will have preserved plantar flexion Diagnosis is typically made with EMG and nerve conduction studies Treatment will include reducing pressure on nerve as well as PT
Placental abruption Risk factors include: maternal HTN, abdominal trauma, prior placental abruption, cocaine & tobacco use Presentation is with sudden-onset vaginal bleeding (80%) along with high-frequency, low-intensity contractions and a hypertonic, tender uterus Diagnosis is mainly clinical presentation o U/S useful to r/o placenta previa and it may show a retroplacental hematoma Potential fetal complications include: hypoxia and preterm delivery Most serious maternal complications are progression into hypovolemic shock and DIC
Placenta previa Risk factors include: prior placenta previa, prior C-section or uterine surgery, multiparity, advanced maternal age Clinical features include: painless 3rd TM bleeding Diagnosis is with transabdominal (f/b transvaginal) o Typically diagnosed at prenatal US @ 18-20 GA Management is to abstain from intercourse and NEVER do digital vaginal exam o C-section is typically scheduled for 36-37 GA because cervical changes and uterine contractions can cause partial placental detachment from the cervix
Urinary incontinence Stress o Patients will have leaking with increased pressure (e.g. coughing, sneezing, laughing, lifting) o Treatment is with lifestyle modification, pelvic floor exercises, pessary, and pelvic floor surgery Best long-term management of SUI is a midurethral sling Urge o Patients have a sudden, overwhelming or frequent need to empty bladder They can often not make it to the bathroom in time
Treatment is with lifestyle modification, bladder training, & antimuscarinic drugs Alpha blockers (e.g. tamsulosin) are used for patients with BPH (causing an urge incontinence) Antimuscarinics (e.g. oxybutynin) are used for urge Overflow o Patients have a constant involuntary dribbling of urine & incomplete emptying o Treatment is with cholinergic agonists and intermittent catheterization Bethanecol is used to treat overflow in diabetic neuropathy o
Neonatal displaced clavicular fracture Risk factors include: fetal macrosomia (maternal DM, post-term), instrumental delivery, and shoulder dystocia Clinical features include: o crying/pain with passive motion o Crepitus over clavicle o Asymmetric Moro reflex Diagnosis is made with X-ray Treatment is reassurance + gentle handling along with analgesics o Arm should be placed in long-sleeved garment and pin sleeve to chest with the elbow flexed at 90 decrease (e.g. arm sling)
Sympathetic ophthalmia Also known as “spared eye injury” Characterized by an immune-mediated inflammation of one eye AFTER penetrating injury to other eye o Pathophysiological mechanism is believed to be uncovering of ‘hidden’ antigens
Cardiac stress testing – medications Hold for 48 hours ß-blockers, CCBs, nitrates Hold for 48 hours prior to vasodilator stress test dipyridamole Hold for 12 hours prior to vasodilator stress test caffeine-containing food or drinks Continue ACEi, ARB, digoxin, statins, diuretics
Leriche syndrome Characterized by a triad of: B/l hip, thigh and buttock claudication o o Symmetric atrophy of b/l LE (due to chronic ischemia) o Impotence (almost always present, if not present think of a different dx) From the groin distally, pulse is soft or absent bilaterally Greatest risk of men who have a predisposition for atherosclerosis (e.g. smokers)
Delirium Risk factors include: advanced age, neurological disorder, and sensory impairment
Precipitating causes include: o CNS insult Infection o Medications o o Metabolic disturbances Clinical features are acute-onset, FLUCTUATING mental status as well as sleep-wake changes, and disturbance in attention Management is to: Treat underlying cause o o Avoid polypharmacy o Maintain normal sleep-wake cycle o Provide frequent reorientation
Pinealoma Pineal gland is located in the quadrigeminal cistern It is responsible for melatonin production o Destruction can lead to dysregulation of circadian rhythm Can cause serious complications from mass effect: Parinaud syndrome limited upward gaze, upper eyelid retraction (Collier o sign), and pupils NON-reactive to light but reactive to accommodation Obstructive hydrocephalus causing papilledema, headache, vomiting, ataxia o Blockage of CSF flow in aqueduct of Sylvius
Pediatric stroke Raise concern if patients presents with acute, FND Clinical features include: focal weakness, hemiparesis, AMS, aphasia, seizure, etc Etiologies o MCC = sickle cell disease o Other causes include: prethrombotic disease, congenital cardiac disease, bacterial meningitis, vasculitis, focal cerebral arteriopathy, head/neck trauma If concern for stroke exists, and MRI should be performed to confirm diagnosis
Babesiosis Transmitted via ixodes scapularis tick and MC in northeastern US Manifestation include: Flu-like symptoms (fever, fatigue, malaise, myalgia, headache) o o Other symptoms include anemia, thrombocytopenia, liver injury o Severe complications include: ARDS, CHF, DIC, and splenic rupture Diagnosis is made with blood smear showing intraerythrocytic rings (“Maltese cross”) Treatment is with atovaquone + azithromycin o If severe, quinine + clindamycin
Alcoholic cerebellar degeneration
Results from degeneration of Purkinje cells (cerebellar vermis) o Occurs in patients who have had >10 years heavy alcohol use Clinical signs will usually develop over weeks to months and can include: Wide-based gait o Truncal ataxia, nystagmus, intention tremor, dysdiadochokinesia o o Pendular knee reflex (persistent swinging movement) o Cognition is usually intact Vs. Wernicke’s, which will affect cognition Diagnosis is mainly clinical (via impaired heel-to-shin, but preserved finger-nose) CT/MRI can help, will show cerebellar atrophy o Treatment is with alcohol cessation as well as nutritional support and ambulatory assistance devices
Acute limb ischemia Sources are cardiac/arterial embolus (e.g. AF, LV thrombus, IE), arterial thrombosis (e.g. PVD), or iatrogenic/blunt Characteristic findings are the 6 Ps: o Pain Pallor o Paresthesias o Pulselessness o Poikilothermia (cool) o o Paralysis (late) Management is with anticoagulation (e.g. heparin)
Trastuzamab Monoclonal antibody often used in combination with adjuvant chemotherapy with patients with HER2-positive breast carcinoma A well known side effect is cardiotoxicity o Will usually manifest as an asx decline in LV EF o Risk and extent are amplified when used in combination with other cardiotoxic chemo drugs (e.g. doxorubicin) Prior to initiating trastuzamab, patients should undergo a baseline echo to assess cardiac function o Should be reassessed by echo at regular intervals o If any significant decline in ejection fraction, therapy should be discontinued
Spinal epidural abscess MCC is S.aureus with inoculating sources of distant infection, procedure, or IVDA Clinical manifestations are triad of fever, focal/severe back pain, neuro sx (e.g. motor/sensory change, bowel/bladder dysfunction) Diagnosis is with elevated ESR, blood cx, and an MRI of the spine Treatment is w/ broad-spectrum abx (e.g. vanc + CTX)
o
As well as aspiration/surgical decompression
Acute epididymitis Epidemiology is age dependent: o <35, most likely sexually transmitted (e.g. Neisseria, chlamydia) o >35, most likely bladder outlet obstruction (e.g. coliform bacteria) Symptoms include: U/L testicular pain, epididymal edema, as well as dysuria and frequency changes Diagnosis is with U/A and Cx or a NAAT for chlamydia/gonorrhea Treatment is: CTX + doxy for STI o Levofloxacin for coliform o
Wiskott-Aldrich syndrome Etiology: X-linked recessive defect in WAS protein gene o Will have impaired cytoskeleton changes in leukocytes and platelets Features include: eczema, microthrombocytopenia, and recurrent infections Treatment is with stem cell transplant
Contraindications to rotavirus vaccine Anaphylaxis to vaccine ingredients H/o intussusception o Vaccine has risk of intussusception, but in normal infants, benefits outweigh risks H/o of uncorrected congenital malformation of GI tract (e.g. Meckel’s diverticulum) SCID
Malignant otitis externa (MOE) Serious infection of the ear seen in elderly patients with poorly controlled DM MCC by Pseudomonas Characteristic presentation consists of ear pain and drainage and granulation tissue may be seen w/in ear canal on examination o Progression can lead to osteomyelitis of skull base and CNVII destruction Diagnosis confirmation is best with CT or MRI Treatment is with systemic anti-pseudomonal (e.g. ciprofloxacin)
Hypomagnesemia Defined as a serum Mg < 1.5 Most often caused by other electrolyte abnormalities (e.g. hypokalemia, hypocalcemia, or metabolic acidosis) o Other causes include: renal failure, diarrhea, vomiting, and gastric suctioning o Decreased levels can occur in the setting of: malabsorption, steattorhea, and/or small bowel bypass surgery
Medications that can cause include thiazides, loops, PPIs, and immunosuppressant rugs (e.g. mycophenolic acid) S/S include tremor, hyperactive DTRs, tetany and possibly chvostek and trousseau (via hypocalcemia) Will have affects on CV and peripheral NS Torsades o Cardiac: U waves and prolonged QT Common associations o Approximately ½ pts with hypomagnesiemia will have coexisting hypokalemia Concentration of K+ in collecting tubules is increased and K+ is renally excreted Hypokalemia will be refractory to K+ supplementation and requires correction of magnesium deficit o
Vitamin D deficiency (rickets) Risk factors include: increased skin pigmentation, exclusively breast-fed , inadequate sun exposure, maternal deficiency Clinical manifestation include: “Ping pong ball” skull (craniotabes) o o Delayed fontanelle closure o Enlarged Skull frontal bossing Costochondral joints Long-bone joints wrist widening o Genu varum X-ray will show osteopenia, cupping & fraying, epiphyseal widening Lab findings will include normal/low Ca2+, normal/low PO4-, increased ALP, increased PTH, and decreased 25-OH vitamin D
Disorders of the active phase of labor Protraction o When cervical change that is slower than expected or inadequate contractions Contractions should be ≥200 MVUs in a 10-minute interval to be considered adequate Treatment is with oxytocin o Arrest o When there is no cervical change ≥4 hrs with adequate contractions ≥6hrs with INadequate contractions Treatment is with C-section o
Hormone levels in different conditions GnRH Hypothalamic hypogonadism Decreased
FSH Decreased
Estrogen Decreased
Primary ovarian insufficiency Polycystic ovary syndrome Normal ovulation Exogenous estrogen use
Increased Increased Normal Decreased
Increased Normal Normal Decreased
Decreased Increased Normal Normal
Primary ovarian sufficiency is a form of hypergonadotropic hypogonadism Defined as the cessation of ovarian function at age <40 Condition is characterized by amenorrhea or oligomenorrhea and symptoms of decreased estrogen (e.g. hot flashes, fatigue) Initial presentation is with irregular menses or infertility Decreased ovarian function low estrogen increased GnRH and FSH
Ddx for stridor Acute o Croup
o
FBO
Most common in infants and toddlers “Barking” cough with an inspiratory stridor as well as fever, rhinorrhea, and congestion Most common in infants and toddlers Acute onset of inspiratory stridor and/or wheezing without infections symptoms (e.g. fever)
Chronic o Laryngomalacia Inspiratory stridor most prominent in infants Stridor is worse when supine and improves when prone o Vascular ring Present in infants Arises from abnormal development of aortic arch causing compression Up to 50% patients also have a cardiac anomaly Biphasic stridor that is more prominent during expiration Will improve with neck extension (via decreased tracheal compression)
Ecthyma gangenosim Disorder associated with Pseudomonas Characterized by rapidly progressive skin lesions that develop into nontender nodules with central necrosis Seen more often in patients who are immunocompromised Treatment is with antipseudomonal abx
CSF findings Acute meningitis will have low glucose, elevated protein, and neutrophilic pleocytosis
Tuberculosis will have low glucose, elevated protein , and lymphocytic pleocytosis HSV will have normal glucose, elevated protein , and lymphocytic pleocytosis o Can also have elevated RBC as a result of hemorrhagic destruction of frontotemporal lobes
SVC syndrome Caused by compression of SVC Patients will often have a headache that is worse when leaning forward MCC = malignancy o If it causes respiratory compromise, may require endovenous stenting f/b radiation therapy
Infant of a diabetic mother – complications 1st trimester o Congenital heart disease o NT defects o Small left colon syndrome o Spontaneous abortion nd rd 2 & 3 fetal hyperglycemia and hyperinsulinemia o Polycythemia (via fetal hypoxemia) o Organomegaly o Neonatal hypoglycemia o Macrosomia dystocia brachial plexopathy, fracture, perinatal asphyxia
Hypovolemic hyponatremia Presents with Na<135 along with s/s hypovolemia (e.g. decreased intake & output, orthostatic, lightheaded, dry, poor skin turgor, tachycardic) Extrarenal losses will have a urine sodium ≤20 and include: o Diarrhea, vomiting o Burns o Pancreatitis Renal losses will have a urine sodium ≥20 and include: o Diuretics o Mineralocorticoid deficiency Decreased effective circulating volume from CHF or cirrhosis (3 rd spacing)
RhoGAM administration ALL Rh negative women given administration at 28 weeks o Standard dose @28 weeks can usually prevent alloimmunization Another administration is repeated w/in 72 hours of delivery o >50% need higher dose after delivery, placental abruption, or procedures Other times it is administered are when there is risk of maternal-fetal mixing (e.g. abortion, trauma, etc)
Intraventricular hemorrhage Common complication in premature and underweight neonates S/S: lethargy, high-pitched cry, increasing head circumference, and bulging fontanels Accumulation of blood in the subarachnoid space can impair ability of arachnoid villi to absorb CSF resulting in communicating hydrocephalus o Affected neonates are at risk of permanent neurodevelopmental problems and death ONLY intervention that can reduce incidence is prevent PTL (e.g. corticosteroids)
Rectovaginal fistula MCC is obstetric injury o May present w/in 1st 2 weeks post partum o Occurs most often after 3rd/4th degree laceration Presents with incontinence of flatus/fecal material through vagina causing a malordorous brown/tan discharge Diagnosis is confirmed by visual examination showing dark red, velvety rectal mucosa on posterior vaginal wall Treatment is with surgical fistula repair
Giant cell tumor of bone Benign and locally aggressive skeletal neoplasm seen in young adults Presents with pain, swelling, and decreased ROM o Nearly 10-35% of affected patients experience pathologic fractures due to thinning of bone cortex X-ray will show expansile and eccentric lytic area with a “soap bubble” appearance Pathology will show sheets of interspersed large osteoclast giant cells 1st line tx = surgery
Osteid osteoma Will typically cause pain worse at night and unrelated with activity Appears as a sclerotic, cortical lesion with a central nidus of lucency Treatment is with NSAIDs
Mucormycosis Caused by Rhizopus spp. Risk factors include DM, hematologic malignancy, and transplant S/S are typically acute and include: fever, nasal congestion, purulent discharge, sinus pain, and headache o Can present with necrotic spread to palate, orbit, and brain Diagnosis is with sinus endoscopy with bx & cx Treatment is with surgical drbridement as well as amphotericin B o Should also work on eliminating predisposing factors (i.e. BG control)
Effusions Know LIGHT’S CRITERIA will be exudative if o Fluid/serum protein >0.5 OR o Fluid/serum LDH >0.6 OR o LDH >2/3 UL normal Transudative are commonly caused by decreased intrapleural or plasma oncotic pressures as well as elevated hydrostatic pressures Exudative are often the result of increased capillary or pleural membrane permeability o Or disruptions of lymphatic outflow
Abdominal succussion splash Elicited by placing stethoscope over upper abdomen and rocking patient at hips Helpful in diagnosing gastric outlet obstruction o Retained material >3hrs will generate a splash sound, indicated the presence of a hollow viscus filled with fluid and gas Management includes NG decompression, IVF, and endoscopy o
Pronator drift PE finding that is relatively sensitive and specific for UMN or pyramidal/CST tract disease o Particularly useful in patients with subtle deficits as it can accentuate pyramidal motor weakness In patients with disease, the affected arm drifts downward and palm turns/pronates toward the floor
Progressive multifocal leukoencephalopathy Epidemiology: JC virus reactivation, particularly susceptive = immunosuppressed (e.g. untreated AIDS) It is slowly progressive with symptoms of confusion, paresis, ataxia, and seizures Reactivated virus spreads to the CNS and lyses oligodendrocytes WM demyelination Diagnosis is with MRI brain with white matter lesions with no enhancement/edema o LP = CSF PCR for JC virus Fatal disease, not much treatment o If HIV, antiretroviral therapy
Cauda Equina Usually b/l, severe radicular pain
vs
Conus Medullaris Sudden-onset severe back pain
Saddle anesthesia
Perianal anesthesia
Asymmetric motor weakness
Symmetric motor weakness
Hypo/Areflexia
Hyperreflexia
Late-onset bowel & bladder dysfunction
Early-onset bowel & bladder dysfunction
Leukocyte adhesion deficiency Caused by defective integrins on the leukocyte surface, which normally allows neutrophils to adhere to endothelium, exit vasculature, and migrate results in lack of neutrophil migration o Patients will present with recurrent skin and mucosal infections as well as poor wound healing Examination will show inflammation with a lack of purulence (lack of neutrophils) o Will also have marked peripheral leukocytosis with neutrophilia 1st sign is a delayed umbilical cord separation (>21 days)
Acute urinary retention Risk factors include: male sex, increased age, a h/o BPH, a h/o neuro disease, and recent surgery o Typical presentation is an elderly male with agitation and suprapubic tenderness following surgery (who also has h/o BPH) Diagnosis is confirmed by bladder U/S demonstration ≥300mL of urine Treatment is with Foley catheter o U/A should be done to r/o UTI, which is a potential cause of AUR
Edwards syndrome Occurs from trisomy 18 Classic findings include: micrognathia, rocker-bottom feet, overlapping fingers, and signs of intrauterine growth restriction (e.g. microcephaly, VSD) Diagnosis is based on prenatal U/S and karyotype confirms 95% of patients die during 1 st year of life, typically due to cardiac or respiratory failure
Exopthalamos True disease with impaired extraocular motion is seen ONLY graves Due to t cell activation and stimulation of orbital fibroblasts and adipocytes by TRAB results in orbital tissue expansion and lymphocytic infiltration o
Erb-Duchenne palsy Involves the 5th, 6th, and 7th (sometimes) cervical nerves Patients will have weakness of : o C5 deltoids and infraspinatus o C6 biceps o C7 wrist/finger extensors
Resultant position is the characteristic “waiter’s tip” which is arm adducted & internally rotated, elbow extended, forearm pronated, with wrist/fingers flexed (if C7 involvement) Approximately 80% patients spontaneously recover within 3 months o If no improvement, can do surgical intervention but it may not be curative
Chronic respiratory acidosis Commonly seen in COPD, obesity hypoventilation syndrome, or neuromuscular causes Patients have a gradual increase in PaCO2 which allos the body to compensate with the kidneys increased HCO3 retention creates a 2˚ metabolic alkalosis o Normal expectancies o A pH decrease ~0.08 for every 10mmHg increase in PaCo2 NOTE that compensation do NOT normalize or overcorrect pH
Rotor syndrome Benign hereditary condition with chronic or fluctuating conjugated hyperbilirubinemia o Due to a defect in hepatic secretion of conjugated bilirubin into biliary system Labs will reveal normal AST, ALT, ALP Patients will have positive urine bilirubin o If hepatic dysfunction, obstruction, or defect (such as Rotors), there is a plasma buildup of conjugated bilirubin leaks into urine Leads to dark urine and positive urine bilirubin assay Patients will have negative urobilinogen o Contrast urobilinogen would be positive in unconjugated hyperbilirubinemias
Indications for renal & bladder ultrasound Infants and children age <24 months with a first febrile UTI Recurrent febrile UTIs in children of any age UTI in a child of any age with a family h/o renal or urologic disease, hypertension, or poor growth Children who do NOT respond to abx tx
Vitreous hemorrhage Typically presents as a sudden loss of vision and onset of floaters o On exam the fundus is hard to visualize Has association w/ diabetic retinopathy For patients with underlying medical conditions, conservative treatment (i.e. upright position during sleep) is recommended
Atheroembolism (Cholesterol crystal) Risk factors include: comorbid conditions and recent cardiac cath Features include:
Dermatologic livedo reticularis, ulcers, blue toe syndrome o Renal acute or subacute kidney injury o CNS stroke, amaurosis fugax o Ocular hollenhorst plaques o GI intestinal ischemia, pancreatitis Lab findings will include an elevated Cr, EOSINOPHILIA, hypocomplementemia Skin/renal bx will show convex, needle shaped clefts w/in occluded vessesls and perivascular inflammation with eosinophils. o
Immunodeficiencies SCID o Etiology patient will have low/absent CD19+ (B cells) and CD3+ (T cells) Gene defect leading to failure of T cell development B-cell dysfunction (due to absent T cells) o Result from a gene defect leading to failure of T cell development Due to absent T cells, there is B cell dysfunction (via loss of CD4+ cells) Features include: recurrent viral, fungal, or opportunistic infections as well as o FTT and chronic diarrhea Treatment is with stem cell transplant o
o
Bruton o o o
Characterized by absent B cells, low serum Igs, but normal T cell Present with recurrent sinopulmonary and GI infections Examination will show an absence of lymphoid tissue
CVID o o o
Similar to Bruton’s, but is less severe and presents later Patients will have normal T and B cell counts Causes recurrent sinopulmonary and GI infections due to hypogammaglobulinemia
Tumor lysis syndrome Risk is the initiation of cytotoxic chemotherapy (esp. for leukemia and lymphoma) Features include: severe electrolyte abnormalities (e.g. increased PO4, K+, uric acid, decreased Ca2+) as well as AKI and arrhythmia Treatment is with continuous telemetry and aggressive electrolyte monitoring/tx PPx is with IV fluids as well as rasburicase or allopurinol
Primary biliary cirrhosis/cholangitis Pathogenesis is the AI destruction of intrahepatic bile ducts Classic presentation is a middle-age women with an acute onset fatigue & pruritus along with progressive jaundice and hepatomegaly o Patient may also have xanothomas & xanthelasmas Lab findings include an elevated ALP and AST/ALT and severe hypercholesterolemia
Typically have antimitochondrial antibody Treatment is with ursodiol o Liver transplant can be done for severe cases Complications include malabsorption, metabolic bone disease (e.g. osteomalacia, osteoporosis) as well as HCC o
EPO and ESRD Major cause of anemia in ESRD is EPO deficiency o Presents as a normochromic normocytic anemia Treatment of choice is recombinant EPO, which is started IF Hgb <10 MC side effects include: o HTN (30%) o Headaches (15%) o Flu-like symptoms (5%) Iron supplementation should be given BEFORE erythropoietin in those patients with evidence of iron deficiency anemia
Types of hearing loss Sensorineural o Disorder involving inner ear, cochlea, or auditory nerve o Examples include: presbycusis, Meniere, barotrauma, neuroma, CVA MC = presbycusis o Affects >1/2 adults by age 75 and is due to degenerative changes of the inner ear Predominantly high-frequency Conductive o Anything that limits sound from gaining access to the inner ear o Examples: OM/OE, cholesteatoma, trauma, cerumen, TM perforation
Glucose-6-phosphatase deficiency Caused by a deficient glucose-6-phosphatase in the liver, kidneys, and intestinal mucosa Results in impaired glycogen glucose leading to glycogen accumulation Patients will typically present at age 3-4 months with hypoglycemia and lactic acidosis o Hypoglycemia can often result in seizures Examination reveals a doll-like face with rounded cheeks, thin extremities, short stature, and a protuberant abdomen (due to hepatomegaly)
Selective survival bias Will occur in case-control studies when the cases are selected from entire disease population instead of those newly diagnosed For example: o Those recently diagnosed with a disease will generally have a higher survival probability o If patient has already had disease for a while, they will not survive as long
Recall bias Applies to retrospective studies (primarily) Results from an inaccurate recall of past exposure Revolves around the idea that people who suffered adverse event are more likely to recall risk factors (than people w/o such experiences)
Effect modification Results when an external variable positive or negatively impacts the effect of a risk factor on the disease of interest For example: o The risk of venous thrombosis is increased with estrogen therapy, and this effect is augmented by smoking
