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33 Cards in this Set

  • Front
  • Back
What is the leading preventable cause of birth defects and devleopmental disabilities?
Fetal exposure to alcohol
What are 3 important complications of prematurity related hypoxia and acidosis?
Intraventricular hemorrhage

Necrotizing enterocolitis

Persistant patent ductus arteriosus
What are the 2 most common bacterial causes for PID?
N. gonorrhea

Chlamydia trachomatis
What is the test of choice to diagnose someone who you suspect has recently acquired HIV?
HIV viral load
A mutation in what surface receptor would cause immunity to HIV?
Homozygous CCR5 mutation
What HIV protein is important for the attachment of it to host T helper cell?

What HIV protein is important in the fusion and entry of it to host T helper cell?
gp120


gp41
What laboratory test for HIV, detects the virus RNA in a patients sample?
PCR
At what CD4 level is AIDS diagnosed?
<200
What is the best test to order to predict the progression to symptomatic disease in an HIV + asymptomatic patient?
HIV viral load
What is the most common bacterial STD in the US?
Chylamidia serotype D-K

Most often is asymptomatic, if not then it will present with urethritis
What are 6 characteristic findings of congenital syphilis?
Saber shins
Saddle nose
CN VIII deafness
Hutchinson's teeth
Mulberry molars
Rash with blisters
What is the classic triad of congenital Rubella?
PDA

Cataracts

Deafness
Cervical friability = ?
Chlamydia
Men who have sex with men = increased risk of?
Syphilis
What is the most common STD in the US?
HPV
What is the cause of pubic and axillary hair growth (adrenarche)?

What is the cause of full adult pubic and axillary hair growth (puberty)?
Adrenal Androgens (Tanner <3)

Gonadal Androgens (Tanner >4)
What two hormones stimulate hair growth, increase hair pigmentation, and increase sebum production?
Testosterone

Dihydrotesterone
What hormone controls adrenal androgen secretion?

What hormone controls ovarian androgen secretion?
ACTH

LH
What is the only androgernic hormone that comes 100% from the adrenal gland?
Dehydroepiandrosterone sulfate (DHEAS)
What is the cause for hursitism that begins in adolescence, but the pt has normal menses and normal androgen concentrations?
Increased cutaneous activity of 5 alpha reductase
What is the most elevated steroid in PCOS?

Where does it come from?
Androstenedione

Theca cells
True or False

Plasma estrone levels are markedly elevated in PCOS
True
What dz is known for having a plasma LH/FSH ratio >2.5-3?
PCOS
In a patient with PCOS, what is the cause of:

Hirsutism?

Acanthosis nigricans?
Androgen excess = hirsutism

Insulin excess = acanthosis nigricans
What is the most sensitive laboratory test for androgen excess in PCOS?
Increased plasma free testosterone
What disease is diagnosed by having the basal morning 17 alpha hydroxyprogesterone level >8?
Late onset 21 alpha hydroxylase deficiency

Cosyntropin causes a marked increase also
What is the tx for 21 alpha hydroxylase deficiency?
ACTH

Also fludrocortisone if necessary to prevent hypotension & hyperkalemia
If a 17 y.o. patient has recurrent Neisseria infections what is the most likely defective protein?
C5-9 = defective MAC formation
If a patient has multiple neurofibromas, café au lait spots, Lisch nodules, what is the type of inheritance pattern?

What is the dz called?

What is defective?
Autosomal Dominant

Neurofibromatosis type 1 (Von Recklinghaus)

Neurofibromin - which is a tumor suppressor gene
What are two common X-linked disorders?
Duchenne’s Muscular Dystrophy

Hemophilia A & B
What is the translocation site for:

Burkitt’s lymphoma?

Chronic myleongenous leukemia?
8:14


9:22
N-myc =?
An oncogene for neuroblastoma
What is the genetic mechanism responsible for hereditary colon cancer?
Mismatch repair