23573562
Description
Flashcards by shaikhnbakeable ., updated more than 1 year ago
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Created by shaikhnbakeable .
over 5 years ago
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| Question | Answer |
| Gout, intellectual disability, self-mutilating behavior in a boy 1. Syndrome 2. Enzyme affected 3. Inheritance Pattern | 1. Lesch-Nyhan Syndrome 2. HGPRT Defiency 3. XR |
| Situs inversus, chronic sinusitis, bronchiectasis, infertility 1. Syndrome 2. Defect | 1. Kartagener syndrome 2. Dynein arm defect (affects cilia) |
| Blue Sclera 1. Disease 2. Defect | 1. Osteogenesis imperfecta 2. Type I collagen |
| Elastic skin, hypermobility of joints, Increased bleeding tendency 1. Disease | 1. Ehlers-Danlos |
| Café-au-lait spots (unilateral), polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities | McCune-Albright Syndrome (Gs-protein activating mutation) |
| Infant with cleft lip/palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia | Patau Syndrome (trisomy 13) |
| Infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect | Edwards Syndrome (trisomy 18) |
| Dilated cardiomyopathy, edema, alcoholism or malnutrition | Wet Beriberi (Thiamine, Vit B1 defiency) |
| Dermatitis, dementia, diarrhea | Pellagra (Niacin, Vit B3 Deficiency) |
| Swollen gums, mucosal bleeding, poor wound healing, petechiae | Scurvy (vitamin C deficiency: can’t hydroxylate proline/ lysine for collagen synthesis) |
| Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria | McArdle disease (skeletal muscle glycogen phosphorylase deficiency) |
| Infant with hypoglycemia, hepatomegaly (Glycogen Storage Disease) | Cori disease (debranching enzyme deficiency) or Von Gierke disease (glucose-6-phosphatase deficiency, more severe) |
| Myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance | Pompe disease (lysosomal α-1,4-glucosidase deficiency) |
| “Cherry-red spots” on macula | Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion |
| Hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of femoral head, bone crises | Gaucher disease (glucocerebrosidase [β-glucosidase] deficiency) |
| Achilles tendon xanthoma | Familial hypercholesterolemia ( LDL receptor signaling) |
| Anaphylaxis following blood transfusion (Ig Deficiency) | IgA deficiency |
| Male child, recurrent infections, no mature B cells | Bruton disease (X-linked agammaglobulinemia) |
| Recurrent cold (noninflamed) abscesses, eczema, high serum IgE, Increased eosinophils | Hyper-IgE syndrome (Job syndrome: neutrophil chemotaxis abnormality) |
| “Strawberry tongue” | Scarlet fever Kawasaki disease |
| Abdominal pain, diarrhea, leukocytosis, recent antibiotic use | Clostridium difficile infection |
| Back pain, fever, night sweats | Pott disease (vertebral TB) |
| Adrenal hemorrhage, hypotension, DIC | Waterhouse-Friderichsen syndrome (meningococcemia) |
| Red “currant jelly” sputum in alcoholic or diabetic patients | Klebsiella pneumoniae pneumonia |
| Large rash with bull’s-eye appearance | Erythema migrans from Ixodes tick bite (Lyme disease: Borrelia) |
| Ulcerated genital lesion | Nonpainful, indurated: chancre (1° syphilis, Treponema pallidum) Painful, with exudate: chancroid (Haemophilus ducreyi) |
| Pupil accommodates but doesn’t react | Neurosyphilis (Argyll Robertson pupil) |
| Smooth, moist, painless, wart-like white lesions on genitals | Condylomata lata (2° syphilis) |
| Fever, chills, headache, myalgia following antibiotic treatment for syphilis | Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in endotoxin-like release) |
| Dog or cat bite resulting in infection | Pasteurella multocida (cellulitis at inoculation site) |
| Rash on palms and soles | Coxsackie A, 2° syphilis, Rocky Mountain spotted fever |
| Black eschar on face of patient with diabetic ketoacidosis | Mucor or Rhizopus fungal infection |
| Chorioretinitis, hydrocephalus, intracranial calcifications | Congenital toxoplasmosis |
| Child with fever later develops red rash on face that spreads to body (viral, also causes aplastic anemia) | Erythema infectiosum/fifth disease (“slapped cheeks” appearance, caused by parvovirus B19) |
| Fever, cough, conjunctivitis, coryza, diffuse rash | Measles |
| Small, irregular red spots on buccal/lingual mucosa with blue-white centers | Koplik spots (measles [rubeola] virus) |
| Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing | Aortic regurgitation |
| Systolic ejection murmur (crescendo-decrescendo) | Aortic stenosis |
| Continuous “machine-like” heart murmur | PDA (close with indomethacin; keep open with PGE analogs) |
| Chest pain on exertion | Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest) |
| Chest pain with ST depressions on ECG | Angina (⊝ troponins) or NSTEMI (⊕ troponins) |
| Chest pain, pericardial effusion/friction rub, persistent fever following MI | Dressler syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode) |
| Painful, raised red lesions on pads of fingers/toes | Osler nodes (infective endocarditis, immune complex deposition) |
| Painless erythematous lesions on palms and soles | Janeway lesions (infective endocarditis, septic emboli/ microabscesses) |
| Splinter hemorrhages in fingernails | Bacterial endocarditis |
| Retinal hemorrhages with pale centers | Roth spots (bacterial endocarditis) |
| Distant heart sounds, distended neck veins, hypotension | Beck triad of cardiac tamponade |
| Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes | Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin) |
| Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria | Immunoglobulin A vasculitis (Henoch-Schönlein purpura, affects skin and kidneys) |
| Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria | Hereditary hemorrhagic telangiectasia (Osler-Weber- Rendu syndrome) |
| Skin hyperpigmentation, hypotension, fatigue | 1° adrenocortical insufficiency leads to increased ACTH, increased α-MSH (eg, Addison disease) |
| Cutaneous flushing, diarrhea, bronchospasm | Carcinoid syndrome (right-sided cardiac valvular lesions, increased 5-HIAA) |
| Cold intolerance, weight gain, brittle hair | Hypothyroidism |
| Cutaneous/dermal edema due to deposition of mucopolysaccharides in connective tissue | Myxedema (caused by hypothyroidism, Graves disease [pretibial]) |
| Facial muscle spasm upon tapping | Chvostek sign (hypocalcemia) |
| No lactation postpartum, absent menstruation, cold intolerance | Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction) |
| Deep, labored breathing/hyperventilation | Diabetic ketoacidosis (Kussmaul respirations) |
| Pancreatic, pituitary, parathyroid tumors | MEN 1 (autosomal dominant) |
| Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus | MEN 2B (autosomal dominant RET mutation) |
| Thyroid and parathyroid tumors, pheochromocytoma | MEN 2A (autosomal dominant RET mutation) |
| Jaundice, palpable distended non-tender gallbladder | Courvoisier sign (distal malignant obstruction of biliary tree) |
| Vomiting blood following gastroesophageal lacerations | Mallory-Weiss syndrome (alcoholic and bulimic patients) |
| Dysphagia (esophageal webs), glossitis, iron deficiency anemia | Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma) |
| Enlarged, hard left supraclavicular node | Virchow node (abdominal metastasis) |
| Arthralgias, adenopathy, cardiac and neurological symptoms, diarrhea | Whipple disease (Tropheryma whipplei) |
| Severe RLQ pain with palpation of LLQ | Rovsing sign (acute appendicitis) |
| Severe RLQ pain with deep tenderness | McBurney sign (acute appendicitis) |
| Hamartomatous GI polyps, hyperpigmented macules on mouth, feet, hands, genitalia | Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; cancer risk, mainly GI) |
| Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth | Gardner syndrome (subtype of FAP) |
| Golden brown rings around peripheral cornea | Wilson disease (Kayser-Fleischer rings due to copper accumulation) |
| Fat, female, forty, fertile | Cholelithiasis (gallstones) |
| Painless jaundice | Cancer of the pancreatic head obstructing bile duct |
| Bluish line on gingiva | Burton line (lead poisoning) |
| Short stature, café-au-lait spots, thumb/radial defects, increased incidence of tumors/leukemia, aplastic anemia | Fanconi anemia (genetic loss of DNA crosslink repair; often progresses to AML) |
| Red/pink urine, fragile RBCs | Paroxysmal nocturnal hemoglobinuria |
| Painful blue fingers/toes, hemolytic anemia | Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis, CLL) |
| Petechiae, mucosal bleeding, prolonged bleeding time | Platelet disorders (eg, Glanzmann thrombasthenia, Bernard Soulier, HUS, TTP, ITP) |
| Fever, night sweats, weight loss | B symptoms of malignancy |
| Skin patches/plaques, Pautrier microabscesses, atypical T cells | Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood) |
| WBCs that look “smudged” | CLL |
| Neonate with arm paralysis following difficult birth, arm in “waiter’s tip” position | Erb-Duchenne palsy (superior trunk [C5–C6] brachial plexus injury) |
| Anterior drawer sign ⊕ | Anterior cruciate ligament injury |
| Bone pain, bone enlargement, arthritis | Osteitis deformans (Paget disease of bone, osteoblastic and osteoclastic activity) |
| Swollen, hard, painful finger joints in an elderly individual, pain worse with activity | Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP [Heberden nodes]) |
| Sudden swollen/painful big toe joint, tophi | Gout/podagra (hyperuricemia) |
| Dry eyes, dry mouth, arthritis | Sjögren syndrome (autoimmune destruction of exocrine glands) |
| Urethritis, conjunctivitis, arthritis in a male | Reactive arthritis associated with HLA-B27 |
| Anticentromere antibodies | Scleroderma (CREST) |
| Dark purple skin/mouth nodules in a patient with AIDS | Kaposi sarcoma, associated with HHV-8 |
| Anti-desmoglein (anti-desmosome) antibodies | Pemphigus vulgaris (blistering) |
| Pruritic, purple, polygonal planar papules and plaques (6 P’s) | Lichen planus |
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