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103 Cards in this Set
- Front
- Back
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Immotile cilia due to dynein arm defect. Infertility, bronchiectasis, recurrent sinusitis, situs inversus
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Kartagener's Syndrome
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Alport's Syndrome
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Type IV collagen defect. Nephritis and deafness. Ocular distubances
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X-linked dominant disorder with increased phosphate wasting at the proximal tubule.
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Hypophosphatemic Rickets
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Mitochondrial Inherited disorders
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Mitochondrial myopathies
Leber's hereditary optic neuropathy (degeneration of retinal ganglion cells and axons, acute loss of central vision) |
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Defect of fibroblast growth factor receptor 3 (FGF receptor 3)
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Achondroplasia
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Genetic problem in Familial Adenomatous Polyposis (polyps in colon leads to colon cancer)
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Autosomal dominant. Deletion of chromosome 5 (APC gene)
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Triad:
Telangiectasia/skin discoloration Recurrent epistaxis Arteriovenous malformation |
Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome)
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Problem in Hereditary Spherocytosis
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Autosomal dominant disease with spectrin or ankyrin defect. Hemolytic anemia. Cure with splenectomy
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Multiple Endocrine Neoplasia (MEN) II and III genetic problem
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Ret Gene
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Increased incidence of astrocytomas, adenoma sebaceum, ash leaf spots, mental retardation, retinal hamartomas
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Tuberous Sclerosis
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X-linked recessive disorders
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Be Wise Fool's GOLD Heeds False Hope
Wiskcott'Aldrich --> Fragile X --> G6PD deficiency --> Ocular albinism --> Lesch-Nyhan --> Duchenne's and beckers --> Hemophilia A and B --> Fabry's --> Hunter's |
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2nd leading cause of mental retardation
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Fragile X syndrome (FMR1 gene expression, CGC repeats)
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Fragile X syndrome
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Extra large testes, jaws, and ears. Mental retardation.
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Cri-du-chat syndrome
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Microdeletion of short arm of chromosome 5. Microcephaly, retardation, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities
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DiGeorge Syndrome
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22q11 deletion. Thymic (no T cells), parathyroid (low set ears, coarse face) and cardiac defects
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Cofactor for:
Pyruvate DH alpha-ketoglutarate DH Transkoetolase Branched chain AA DH |
Vitamin B1 (Thiamine)
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Cofactor in oxidation and reduction (FADH2)
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Vitamin B2 (Riboflavin)
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Constituent of NAD, derived from tryptophan
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Vitamin B3 (Niacin)
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Essential component of CoA and fatty acid synthase
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Pantothenate (Vitamin B5)
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Cofactor in transamination (ALT, AST), decarboxylation reactions, glycogen phosphorylase and heme synthesis
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Vitamin B6 (Pyroxidine)
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B12 is a cofactor for
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Homocystine methyltransferase Methylmalonyl-CoA mutasee
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Cofactor for:
Pyruvate Carboxylase Acetyl-CoA Carboxylase Propionyl CoA Carboxylase |
Biotin
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Ornithine Transcarbamoylase Deficiency
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X-linked recessive. Body cannot eliminate ammonia. Carbamoyl phosphate --> Orotic acid. Orotic acid in blood and urine, decreased BUN and hyperammonemia
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Dietary modifications for PKU
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Decrease phenylalanine and increase tyrosine
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Problem in Albinism
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Tyrosinease
Tyrosine transporters |
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Mental retardation
Osteoporosis, tall stature Kyphosis Lens subluxation (down and in) Atherosclerosis |
Homocystinuria (high homocystine in urine)
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AA problem in Maple Syrup Urine Disease
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Branched amino acids (Ile, Leu, Val) cannot be degradd due to alpha-ketoacid DH deficiency
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Retardation, self-mutilation, aggression, hyperuricemia, gout, choreoathetosis. Cannot salvage purines, excess uric acid production
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Lesch-Nyhan Syndrome
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Deficient in beta-glucocerebrosidase
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Gaucher's disease
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Deficient in Hexosaminidase A
Build up of GM2 ganglioside |
Tay-Sachs Disease
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Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly
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Hurler's Syndrome
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Developmental delay, airway obstruction, no corneal clouding, hepatosplenomegaly
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Hunter's Syndrome
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Vitelline fistula
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Fistula between umbilicus and terminal illium
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Potter's Syndrome
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Renal agenesis, baby can't pee. Limb deformities, facial deformities, pulmonary hypoplasia. Malformation of ureteric bud
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Tumor associated with Plummer-Vinson syndrome (atrophic glossitis, esophageal webs, anemia, due to iron deficiency)
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Squamous cell carcinoma of esophagus
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Cancer associated with Paget's Disease
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2 degree osteosarcoma and fibrosarcoma
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Acanthosis nigricans is associated with which caners?
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Visceral malignancy (stomach, lung, breast, uterus cancers)
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Oncogene abl
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CML
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Oncogene c-myc
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Burkitt's lymphoma
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Oncogene bcl-2
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Follicular and undifferentiated lymphomas
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Oncogene erb-B2
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Breast, ovarian, and gastric carcinomas
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Oncogene ras
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Colon carcinoma
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Oncogene c-kit
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GI stromal tumor (GIST)
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Tumor suppresor gene p16
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Melanoma
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Tumor suppresor gene DPC
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Pancreatic Cancer
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Tumor marker in hepatocellular carcinomas or germ cell tumors
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Alpha-fetoprotein
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Tumor marker in Ovarian malignant epithelial tumors
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CA-125
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Bombesin
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Tumor marker for Neuroblastoma, lung and gastric cancer
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Tumor marker CA-19-9
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Pancreatic adenocarcinoma
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Hormones secreted by squamous cell lung cancer, renal cell carcinoma and breast carcinoma
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Ptch-related peptide, TGF-beta, TNF, IL-1
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Lambert-Eaton syndrome
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Muscle weakness associated wtih thymoma or small cell lung carcinoma
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Tumors that can cause gout or urate nephropathy
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Leukemias and lymphomas (lots of nucleic acid turnover)
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Psammoma bodies found in these cancers
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Papillary (thyroid)
Serous (ovary) Meningioma Mesothelioma |
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Holosystolic, high-pitched blowing murmur. Loudest at apex and radiates towards axilla
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Mitral regurgitation
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Holosystolic, high-pitched blowing murmur radiates to right sternal border
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Tricuspid regurgitation
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Crescendo-decrescendo systolic ejection murmur following ejection click
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Aortic Stenosis (usually from age)
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Holosystolic, harsh-sounding murmur, loudest at tricuspid area
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Ventricular septal defect
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Late systolic murmur with midsystolic click. Loudest at S2.
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Mitral prolapse (can predispose to endocarditis)
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Immediate high-pitched blowing diastolic murmur. Wide pulse pressure.
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Aortic regurgitation (RF)
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Delayed rumbling late diastolic murmur after opening snap
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Mitral stenosis (RF)
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Continuous machine like murmur
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Patent ductus arteriosus
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Tetralogy of Fallot
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Pulmonary Stenosis
RVH Overriding Aorta Ventricular Septal Defect |
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Henoch-Schonlein purpura
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IgA nephropathy. Palpable purpura on skin of lower limbs. Affects skin, joints, and GI
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Port-wine stain
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Sturge-Weber Disease. Affects capillary-sized blood vessels
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Buerger's Disease
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Smoker's vasculitis
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Necrotizing vasculitis of small/medium vessels. Coronary aneurysms. Fever, congested conjunctiva, strawberry tongue
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Kawasaki's disease
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Polyarteritis nodosa associated with this virus
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Hep B
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Takayasu's arteritis
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Pulseless disease. Granulomatous thickening of aortic arch.
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Hirschsprung's Disease
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Chronic constipation early in life. Anganglionic segment of colon. Megacolor. Failure of neural crest cell migration
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Misfolded gene product protein accumulates in hepatocellular ER. Decreased elastic tissue in lungs. PAS-positive globules in liver
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Alpha1-antitrypsin deficiency
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Gilbert's Syndrome
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Decreased UDP-glucuronyl transferase of decreased bilirubin uptake.
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Crigler-Najjar syndrome
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Absent UDP-glucuronyl transferase. Jaundice, kernicterus, elevated unconjugated bilirubin
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Dubin-Johnson Syndrome
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Conjugated hyperbilurubinemia due to defective liver excretion. Black liver.
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Courvoisier's sign (obstructive jaundice with palpable gallbladder)
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Pancreatic adenocarcinoma
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Bite cell
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G6PD Deficiency
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Teardrop cell
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Myeloid metaplasia with melofibrosis
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Acanthocyte (spur cell)
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Liver disease
Abetalipoproteinemia |
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Target cell
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HbC
Asplenia Liver disease Thalassemia (HALT at the target) |
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Burr cell
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TTP
HUS |
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Heinz Bodies (oxidation of iron from ferrous to ferric form leads to damage of RBC membrane)
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Alpha thalassemia
G6PD deficiency |
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Reed-Sternberg Cells
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Hodgkin's disease. CD30+ and CD15+ B cells
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Cancer with hypercalcemia, renal insufficiency, anemia, bone and back pain. Monoclonal plasma cells (fried egg appearance). Monoclonal IgG spike (M protein)
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Multiple Myeloma
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9:22 translocation. Philadelphia chromosome
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CML
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8:14 translocation. Starry-sky appearance (sheets of lymphocytes with macrophages)
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Burkitt's lymphoma (Africa, children, jaw, EBV)
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11:22 translocation
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Ewing's Sarcoma
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Auer rods
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Seen in AML and APL
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Gammaglobulinemia
Rheumatoid Arthritis ACE increase Interstitial Fibrosis Noncaseating Granulomas |
Sarcoidosis
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Fanconi's Syndrome
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Wasting of phosphate and bicarb, and early wasting of Na+. Leads to Rickets, metabolic acidosis, and hypokalemia
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Fanconi's Syndrome causes
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Wilson's disease
Glycogen storage diseases Drugs (expired tetracycline and cisplatin) |
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U waves on EKG, flattened T waves, arrhythmias, paralysis
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Low serum K+
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Peaked T waves, wide QRS, arrhythmias
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High serum K+
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Tetany, neuromuscular irritability
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Low Ca2+
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Delerium, renal stones, abdominal pain
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High serum Ca2+
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Levels of Inhibin, FSH, Testosterone, LH, and Estrogen in Kleinfelter's Syndrome
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High Estrogen
High FSH High LH Low Inhibin Low Testosterone Barr body |
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FSH, LH, and Estrogen levels in Turner's syndrome
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High FSH
High LH Low Estrogen No Barr bodies |
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LH, Testosterone, and Estrogen levels in androgen insensitivity
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All high
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Unable to convert testosterone to DHT, Ambiguous genitalia until puberty
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5-alpha-reductase deficiency
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LH, FSH, and Testosterone in Polycystic Ovarian Syndrome
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Low FSH
High LH High Testosterone |
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Benign or Malignant Breast Cancers?
Fibroadenoma Intraductal papilloma Phyllodes Tumor |
Benign
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Benign or Malignant Breast Cancers?
Ductal Carcinoma Paget's Disease |
Malignant
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Tumor containing Reinke crystals. Androgen producing, gynecomastia in men, precocious puberty in boys
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Leydig Cell Tumors
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Drugs that cause agranulocytosis
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Clozapine
Carbamazepine Colchicine Propyltiouracil Methimazole |
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Drugs that cause megaloblastic anemia
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Phenytoin
Methotrexate Sulfa drugs (Blast to have PMS) |
