Progressively worsening weakness, exaggerated startle response, diminishing visual response, and hyperreflexia in an Eastern European 7-month-old boy = Tay-Sachs disease, deficiency in enzyme hexosaminidase A —> accumulation of GM2 ganglioside in neurons —> neurodegeneration

Ankle Brachial Index (ABI) = systolic pressure at ankle, divided by systolic pressure at brachial artery; Specific and sensitive metric for dx of Peripheral Arterial Disease (PAD)

Tularemia - francisella tularensis infection (aerobic, facultative intracellular, gram-negative coccobacillus); Forms: ulceroglandular (skin ulcer, lymph adenopathy), glandular (no ulcer), oropharyngeal, pneumonic (fever, cough, respiratory distress), typhoidal (systemic)

Hx: Easy bruising, frequent nosebleeds, FH: bleeding tendencies, NL platelet count, prolonged activated partial thromboplastin time (aPTT) with NL PT and INR = von Willebrand disease: deficiency or dysfunction of vWF (platelet adhesion & protecting factor VIII from degradation)

Salter-Harris fractures (physeal fractures) refer to fractures through a growth plate (physis). 5 types: I - Straight II - Above III - Lower IV - Through V - Ram/cRush

Ottowa Ankle Rules: a. pain at medial malleolus/distal fibula/inability to walk b. pain at midfoot/5th metatarsal c. pain at navicular bone/inability to bear weight for 4 steps

Causes of acute pancreatitis: "I GET SMASHED"

AD CAVA DIMPLS = key components of admission orders

Polymyositis= idiopathic inflammatory myopathy; s/s: chronic muscle inflammation, progressive proximal muscle weakness (shoulders, hips, thighs),↑serum creatinine kinase (CK), difficulty climbing stairs; Dx: EMG, muscle bx (inflammatory infiltrates, muscle fiber necrosis)

Dark urine, fatigue, pallor, jaundice, ↑ LDH, indirect hyperbilirubinemia, anemia, hemolysis, bite cells, Heinz bodies = Glucose-6-phosphate dehydrogenase (G6PD) deficiency (X-linked recessive; African, Mediterranean, or Asian descent)

ALT & AST - hepatic enzymes involved gluconeogenesis from amino acids alanine & aspartate; ALT:AST ratio evaluates metabolic dysfunction (↑ALT:AST = poor glucose regulation, insulin resistance, metabolic syndrome, diabetes, CV disease or NAFLD; NL ratio: 0 - 0.8

Cardiac Exam - Left lateral decubitus w/bell --> mitral stenosis (diastolic, small amplitude, rumble)

Huntington's disease - HTT gene/CAG repeats, autosomal dom, neurodegenerative --> chorea, cognitive decline, psychiatric s/s; Brain MRI: caudate nucleus & putamen atrophy; Lumbar puncture & EEG not used to diagnose Huntington’s

Asthma treatment - step-wise approach that matches the intensity of therapy with the severity of the disease. As asthma progresses or improves, treatment can be escalated (stepped up) or de-escalated (stepped down)

Ventricular tachycardia Rx: depends on patient's hemodynamic stability, underlying cause, and the severity of symptoms; Goals: terminate the VT, prevent recurrence, and address any underlying conditions; Unstable = hypotension, altered mental status, chest pain, or signs of shock

Wilson's disease = AR disorder caused by ATP7B gene mutations —> impaired hepatic copper transport & copper accumulation in various tissues

Lipoarabinomannan (LAM) - glycolipid in cell wall of mycobacteria that may be detected in urine from TB patients; Sensitivity of urinary LAM assay increases and the specificity decreases with lower CD4+ T-lymphocyte counts

Neutrophilic dermatoses - cutaneous neutrophilic infiltration w/out infectious cause & possible involvement of other organs --> Sweet’s syndrome, pyoderma gangrenosum, Behçet’s disease, bowel-associated dermatosis–arthritis syndrome & rheumatoid neutrophilic dermatitis

24-Hydroxylase converts 25-hydroxyvitamin D & 1,25-dihydroxyvit D to INACTIVE 24,25-dihydroxyvit D & 1,24,25-trihydroxyvit D (calcitroic acid), excreted via kidneys; 24-Hydroxylase deficiency = ↑active 1,25-dihydroxyvitamin D --> ↑ intestinal Ca++ absorption = hypercalcemia

Homocysteine = sulfur-containing amino acid from metabolism of methionine, an essential amino acid in dietary protein; ↑homocysteine (hyperhomocysteinemia) linked to atherosclerosis, thrombosis, CADz, dementia, stroke, neural tube defects, preeclampsia, osteoporosis, CKD