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42 Cards in this Set
- Front
- Back
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Truncus arteriousus, tetralogy of Fallot --> what disorder?
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22q11 syndromes (e/c DiGeorge syndrome)
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Septal defects, PDA, pulmonary artery stenosis. What disorder?
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Congenital rubella
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ASD, VSD, AV septal defect --> what disorder?
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Down syndrome
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Aortic insufficiency. What congenital disorder?
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Marfan's syndrome
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Coarctation of aorta. What disorder?
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Turner's syndrome
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Transposition of great vessels. What disorder?
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Offspring of diabetic mother
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XXY?
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Klinefelter's syndrome (male)
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XO?
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Turner's sydnrome (female). Mnemonic: "Hugs and Kisses" (XO) from tina TURNER (female).
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XYY?
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Double Y males (male)
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What disorder? Phenotypically normal, very tall, severe acne, antisocial behavior, normal fertility. Observed w/ inc. frequency among inmates of penal institutions.
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Double Y males (XYY).
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Autosomal dominant disorder that causes venule and capillary malformations that tend to bleed in the skin and mucous membranes. It does not cause bone malformations or fractures. What disorder?
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Osler-Weber-Rendu syndrome (aka hereditary hemorrhagic telengiectasia)
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What other hormone acts on the same class of receptor as somatostatin (which binds a transmembrane receptor on target cells)?
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Calcitonin. The receptor is a Gs protein-coupled receptor that activates adenylyl cyclase. Leads to inc. intracell. cAMP concentration in target cells.
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Epidermal growth factor, insulin receptor, and platelet-derived growth factor are all receptors that act by which mechanism?
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Receptor tyrosine kinase
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What inhibits alcohol dehydrogenase?
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Fomepizole
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Where is hexokinase found?
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It's ubiquitous -- all cells of the body.
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What enzyme inhibits glucose-6-phosphate?
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Hexokinase
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Beta-hCG is a tumor marker for what disorders?
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Hydatidiform moles, Choriocarcinomas, and Gestational trophoblastic tumors (HCG)
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What mucolytic agent is used to treat CF?
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N-acetylcysteine
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What is used to treat acetaminophen overdose?
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N-acetylcysteine
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What is atenolol?
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Selective Beta-1 blocker
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Deferoxamine?
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antidote for iron toxicity
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Labetalol?
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nonselective beta-blocker
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Penicillamine?
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Antidote for numerous toxins (copper, arsenic, gold)
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This type of mutation occurs when a point mutation causes one AA in a protein to be replaced by a different AA.
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Missense mutation
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What's it called when a point mutation does not change the AA sequence of the protein?
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Silent mutation (often occurs in the third position of the codon)
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Deficiency in NADPH oxidase causes what disease?
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Chronic granulomatous disease
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What is used to treat Chronic Granulomatous disease?
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Gamma-interferon
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What are the four major irreversible enzymes involved in gluconeogenesis?
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Pyruvate carboxylase, PEP carboxykinase, Fructose-1,6-bisphosphatase, Glucose-6-phosphatase (Mnemonic: Pathway Produces Fresh Glucose)
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Glucose-6-phosphatase deficiency called what disorder?
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Von Gierke's disease (type I)
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Name the Glycogen Storage Diseases.
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Von Gierke's disease (type I), Pompe's disease (type II), Corie's disease (type III), and McArdle's disease (type V). Mnemonic (Very Poor Carbohydrate Metabolism)
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Galactosemia due to absence of what enzyme?
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galactose-1-phosphate uridyltransferase
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Treatment for galactosemia?
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exclude galactose and lactose (galactose + glucose) from diet
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What type of mutation is involved in Duchenne's Muscular Dystrophy?
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Frame-shift muation -> deletion of dystrophin gene -> accelerated muscle breakdown.
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Symptoms of porphyrias?
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Painful abdomen, Pink urine, Polyneuropathy, Psychological disturbances, Precipitated by drugs (5 Ps)
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Uroporphyrin accumulation in urine -- what disorder?
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Porphyria cutanea tarda
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Porphobilinogen and delta-ALA accumulation in urine -- what disorder?
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Acute intermittent porphyria
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Coproporphyrin and delta-ALA accumulation in urine --what disorder?
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Lead poisoning
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2-year old with incr. abdominal girth, FTT, and skin and hair depigmentation. Dx?
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Kwahiorkor
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51-year old w/ black spots in sclera and urine that turns black upon standing. Dx?
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Alkaptonuria
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Woman c/o intense muscle cramps and darkened urine after exercise. Dx?
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McArdle' Disease
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2 paretns w/ albinism have normal son. Genetic mechanism that explains this?
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Locus heterogeneity
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Child exhibits weaknes and enlarged calves. Disease and inheritance?
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Duchenne' muscular dystrophy; x-linked recessive
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