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ABIM - Diseases

Diseases 02

What is homocystinuria? Deficiency of cystathionine synthase, which uses up homocysteine and methionine. Causes mental retardation and vessel thrombosis.
What is a common cause of increased homocysteine? B12/folate deficiency. B12 accepts the methyl group from folate and transfers it to homocysteine to make methionine. If this transfer doesn't happen --> accumulation of homocysteine --> damage EC's --> predisposes to thromboses --> MI
What is Pompe's disease? Deficiency of a lysosomal enzyme that breaks down glycogen (lysosomal α 1,4 glucosidase) --> build up of glycogen --> cardiomegaly with early death
In what patient would 6-mercaptopurine not be effective? Lesch-Nyhan syndrome: deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT). Won't activate purine synthesis or 6-mercaptopurine (drug that blocks purine synthesis), which requires activation by HGPRT to become active. X-linked recessive.
Hirschsprung disease bowel obstruction due to aperistalsis (absence or destruction of ganglion cells that control peristalsis) --> enlargement of colon. Starts at the anus and progresses upward. Proximal bowel is dilated but has peristalsis. No signs of stool on rectal exa
Can people with Down's have children? Males with Down's are infertile. Females can have babies, but have 50% of having a Down's child.
What are the possible chromosomal sets for Turner's Syndrome? Nondisjunction: 45, X = 46 total. Mosaicism: 45, X OR 45, XX
In Turner's Syndrome, what is the growth hormone and insulin-like growth factor profile? Both are normal.
In which disease do you have XXY karyotype? Klinefelter's Syndrome. XXY with female secondary sex characteristics, hypogonadism (dec testosterone and inhibin, inc LH and FSH)
In which disease do you have XYY karyotype? Paternal nondisjunction -- aggressive, sometimes criminal behavior, nl gonadal fxn.
Karyotype of a hermaphrodite 46,XX, but has BOTH male and female gonads
Decreased maternal folate levesl cause what? Open neural tube defects
What happens in testicular feminization? X-linked recessive disorder where there is deficiency in androgen receptors. Can't sense fetal DHT and testosterone --> no Wolffian duct development and external genitalia remain female.
Do those with testicular feminization have testicles? Yes
Do those with testicular feminization have Mullerian structures such as fallopian tubes, uterus, cervix, and upper vagina? No because sertoli cells in testicles make MIF --> apoptosis of mullerian structures
What is the most common systemic complication of IV drug use? Hep B
In a cocaine addict, would you expect dilated or pin pupils? dilated.
In a heroin addict, would you expect dilated or pin pupils? miosis.
Person on some drug and experience tinnitus and vertigo ASA
Person on some drug and experiences photosensitive rash Tetracycline
ASA causes what kind of acid/base disturbance? Mixed. Stimulation of the respiratory center --> respiratory alkalosis. ASA is an acid --> metabolic acidosis.
What is the most common cause of HTN in young women? OCPs
What should you think of when you see transverse bands in a patient's nails, pt is strawberry picker? arsenic poisoning
What should you think of when you see opasities on x-ray in the epiphyses of a child with failure to grow? Pb poisoning. Pb is the only heavy metal that can deposit in bone.
Child from poor neighborhood eats paint off crib or off walls. Has severe abdominal colic, cerebral edema leading to convulsions. Pb poisoning. Check for microcytic anemia and failure to thrive. Look for Pb in intestines.
Worker in automobile factory with exposure to batteries --> abdominal colic and diarrhea Pb poisoning.
Man makes alcohol in his old radiator, peripheral neuropathy Pb poisoning.
Get pottery from some other country; pottery painter dabs paint brush on tongue Pb poisoning.
Why would someone with Pb poisoning get cerebral edema? Pb blocks ferrochelatase --> buildup of δ-amino-lebvulinic acid (ALA) --> toxic to neurons --> increase in vessel permeability in the brain
How does UVB lead to skin cancer? Pyrimidine dimers distort the DNA helix; inactivation of TP53 suppressor gene (enable cell to move on to S phase), activation of RAS oncogene.
thalassemia defect in making globin chains
Von Hippel Lindau Syndrome Defect in VHL gene (autosomal dominant), which regulates nuclear transcription; cerebellar hemangioblastoma, retinal angioma, renal cell carcinoma (bilateral), pheochromocytoma (bilateral). Von hippo -- around the hips bilaterally: kidneys (renal CA), ad
Wilms tumor Defect in WT gene (chromosome 11), which regulates nuclear transcription; tumor of the kidneys that typically occurs in children, rarely in adults. Autosomal dominant.Highly responsive to treatment with VINCRISTINE, with about 90% of patients surviving a
Elevated AFP (alpha feto protein) Tumor marker for hepatocellular carcinoma, yolk sac tumor of ovary or testis; also elevated in open neural tube defects (triple screen for pregnant women)
Decreased AFP (alpha feto protein) Down Syndrome
Bence Jones protein Tumor marker for multiple myeloma, Waldenstrom's macroblobulinemia; the Bence Jones' protein is the light chain of the Ig.
CA 15-3 Tumor marker for Breast carcinoma
CA 19-9 Tumor marker for Pancreatic carcinoma
CA 125 Tumor marker for Surface-derived ovarian cancer
CEA Tumor marker for colorectal and pancreatic carcinoma
PSA Tumor marker for prostate carcinoma (also elevated in prostate hyperplasia)
If you suspect a trophoblastic tumor in a woman, what would you want to measure in her serum? BhCG
Inheritance pattern of xeroderma pigmentosum autosomal recessive - defect in DNA repair
Inheritance pattern of Fanconi anemia autosomal recessive - defect in DNA repair
Inheritance pattern of Ataxia-telangiectasia autosomal recessive - defect in DNA repair
Inheritance pattern of Bloom syndrome autosomal recessive - defect in DNA repair
GERD predisposes to which type of cancer? Barrett's esophagus --> distal esophageal adenocarcinoma
DDx for RLQ pain appendicitis, Crohn's dz, ectopic pregnancy, follicular cysts, cystic teratomas of the ovaries
Conn syndrome adrenal adenoma that secretes mineralocorticoids
What is the most common reason for a child to have a white eye reflex? Congenital cataracts. Can also be due to retinoblastoma or a CMV or rubella infection.
52 yo woman with weight loss and epigastric distress, upper GI series --> no peristalsis in stomach --> died. Tumors in stomach and ovaries. Diffuse gastric adenocarcinoma (also called Linitis plastica). Diffuse infiltration of signet ring cells in lining of the stomach --> leather bottle stomach (very hard stomach with all the infiltration!)
Dislocated lenses, deep vein thrombosis, stroke, atherosclerosis, mental retardation. What is the diagnosis? Deficiency of cystathionine synthase, which uses up homocysteine and methionine.
Created by: christinapham



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