Repro Flashcards

1
Q

Shh

A

produced at base of limbs, involved an AP axis

- CNS development, defect –> holoprosencephaly

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2
Q

Wnt-7 gene

A

important at distal end of developing limb

- necessary for dorsal-ventral axis

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3
Q

FGF gene

A
  • stimualtes mitosis of underlying mesoderm

- lengthening of limbs

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4
Q

Hox genes

A
  • they code for transcription regulators that are important in cranial-caudal organization
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5
Q

neural tube closes

A

week 4

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6
Q

mesodermal defects - VACTERL

A

-vertebral, anal atresia, cardiac defects, T-E fistulas, renal defects, limb defects

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7
Q

teratogenicity of ACEi

A

renal damage

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8
Q

teratogenicity of aminoglycosides

A

CN VIII tox

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9
Q

teratogenicity of carbamezapine

A

NT defects, craniofacial defects, fingernail hypoplasia, DD, IUGR

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10
Q

teratogenicity of Lithium

A

Ebstein anomaly

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11
Q

teratogenicity of phenytoin

A

fetal hydantoin syndrome: microcephaly, dysmorphic craniofacial features, hypoplastic nails and distal phalanges, cardiac defects, IUGR, intellectual disability

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12
Q

teratogenicity of tetracyclines

A

discolored teeth

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13
Q

thalidomide

A

causes limb defects

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14
Q

valproate teratogenicity

A

neural tube defects

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15
Q

maternal diabetes effect on infant

A

caudal regression syndrome (anal atresia to sirenomelia), congenital heart defects, neural tube defects

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16
Q

1st aortic arch derivative

A

maxillary artery

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17
Q

2nd aortic arch derivative

A

stapedial artery and hyoid artery

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18
Q

3rd aortic arch derivative

A

common carotid and proximal ext carotid

C = 3rd letter of alphabet

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19
Q

4th aortic arch derivative

A

L- aortic arch, R - subclavian artery

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20
Q

6th aortic arch derivative

A

pulmonary arteries and ductus arteriosus

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21
Q

branchial apparatus derivatives

A

CAP

  • cleft - ectoderm
  • arch - mesoderm
  • pouch - endoderm
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22
Q

branchial cleft derivatives

A
  • the 1st becomes the external auditory meatus, and the rest obliterate
  • can get a brachial cleft cyst within the lateral neck if they do not obliterate
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23
Q

1st branchial arch derivatives

A
  • Meckel’s cartilage: Mandible, Malleus, incus, spheno-Mandibular ligament
  • Muscles of Mastication, mylohyoid
  • V2 and V3 innervation
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24
Q

2nd branchial arch derivatives

A
  • Reichert cartilage: Stapes, Styloid process, Stylohyoid ligament
  • muscles of facial expression, stapedius, styloid , platySma
  • CN VII
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25
Q

3rd branchial arch derivatives

A
  • hyoid cartilage
  • stylopharyngeus muscle
  • glossopharyngeal nerve
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26
Q

4th-6th branchial arch derivatives

A
  • thyroid, cricoid, arytenoid cartiledges
  • 4th does pharyngeal constrictors, 6th does all intrinsic muscles of larynx except cricothyroid
  • 4th innervated by superior laryngeal branch of CNX, 6th by recurrent laryngeal branch
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27
Q

1st branchial pouch derivatives

A
  • middle ear cavity, eustachian tube, mastoid air cells
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28
Q

2nd branchial pouch derivatives

A
  • epithelial lining of palatine tonsil
29
Q

3rd branchial pouch derivatives

A
  • dorsal –> inteferior parathyroids

- ventral –> thymus

30
Q

4th branchial pouch derivatives

A
  • dorsal –> superior parathyroids
31
Q

male genital embryology

A
  • SRY gene produces testes determining factor –> testes
  • sertoli cells secrete Mullerian inhibitory factor (suppresses paramesonephric duct)
  • leydig cells secrete androgens to stimulate development of mesonephric ducts
32
Q

sertoli cell deficiency

A

male and female internal genitalia, male external due to normal DHT

33
Q

5 alpha reductase deficiency

A

male internal genitalia (because sertoli cells suppress female) but ambiguous external until puberty

34
Q

sertoli cell function

A
  • secrete inhibin (inhibits FSH)
  • secretes androgen-binding protein - maintains local levels of testosterone
  • tight junctions prevent AI attack of gametes
  • regulates spermatogenesis
  • secretes MIF in development
  • temperature sensitive
35
Q

leydig cell function

A

secrete testosterone in response to LH

36
Q

theca cell function

A

converts cholesterol to androstenedione in response to LH

37
Q

granulosa cell function

A

converts androstenedione to estogens (via aromatase) in response to FSH

38
Q

Tanner Stages

A

I - prepubertal
II - pubic hair appears, breast buds form
III - pubic hair darkens/becomes curly, penis lengthens, breasts enlarge
IV - penis widens, darker scrotal skin, development of glans, raised areolae
V - adult, flat areolae

39
Q

oogenesis

A
  • arrested in prophase of meiosis I until ovulation

- then arrested in metaphase of meiosis II until fertilization

40
Q

human placental lactogen

A

secreted by the syncytiotrophoblasts and increases maternal insulin resistance so that blood sugar stays high for baby
- this is the cause of gestational diabetes

41
Q

hCG functions

A
  • maintains the corpus luteum in the first trimester

- hCG is increased in multiple gestations, Downs, and moles/choriocarcinoma

42
Q

Klinefelter Syndrome

A
  • XXY
  • testicular atrophy, euchnoid body habitus, tall with long extremities, gynecomastia, female hair distribution
  • developmental delay
  • decreased inhibin and testosterone leads to increased FSH and LH
43
Q

Turner Syndrome

A
  • dont forget about the cystic hygroma (post neck mass with cystic spaces separated by connective tissue)
  • can result from mitotic or meiotic error
44
Q

aromatase deficiency

A

cannot synthesize estrogens from androgens

  • masculinization of female infants, increased testosterone and androstenedione
  • can have maternal virilization during pregnancy
45
Q

5a reductase deficiency

A
  • cannot convert test to DHT
  • normal male internal sex organs, ambiguous external genitalia until puberty
  • test/est normal, LH normal or increased
46
Q

Kallman syndrome

A
  • mutation in Kal-1 gene or fibroblast growth factor receptor-1 gene
  • defective migration of GnRH cells
  • anosmia, hypogonadism, +/- midline defects, delayed puberty
47
Q

Complete Mole

A

46 XX or XY, all paternal

  • one sperm, empty egg
  • significantly increased bHCG, can convert to trophoblastic disease
  • vaginal bleeding, enlarged uterus, pre-eclampsia, hyperemesis, hyperthyroidism
  • “cluster of grapes” and “snowstorm”
48
Q

Partial Mole

A

XXY or XXX

  • high/normal bHCG, uterus is normal size, there ARE fetal parts
  • 2 sperm + 1 egg, low risk of malignancy
  • presents with vaginal bleeding and pain
49
Q

HPV 16 and 18 mechanism of causing cancer

A

E6 gene product inhibits p53
and
E7 gene product inhibits Rb suppressor gene

50
Q

endometritis organism/treatment

A

bacteroides is most common

- treat with gent + clinda

51
Q

PCOS

A
  • amenorrhea/oligomenorrhea, hirsuitism, acne
  • associated with obesity and endometrial cancer
  • treat with weight reduction, OCPs, antiandrogens
  • give clomiphene citrate for infertility (SERM that blocks negative feedback of circulating estrogen)
  • increased LH and FSH, LH:FSH 3:1
52
Q

mature cystic teratoma (dermoid cyst)

A
  • germ cell tumor in women 20-30 years old with all 3 germ layers
  • can present with pain 2/2 torsion if they get large
  • can contain functional thyroid tissue - struma ovarii
  • 10% bilateral
53
Q

Brenner tumor

A
  • looks like bladder (urothelium)
  • solid tumor that is pale yellow-tan in color and appears encapsulated
  • “coffee bean” nuclei on H+E stain
54
Q

Fibromas

A
  • bundles of spindle-shaped fibroblasts, pulling sensation in groin
  • associated wtih Meigs syndrome - ovarian fibroma, ascites and pleural effusion
55
Q

granulosa cell tumor

A
  • produce estrogen and/or progesterone
  • present with estrogen excess at various ages
  • Call-Exner bodies
56
Q

dysgerminoma

A

most common in adolescents

- “fried egg” cells, hCG and LDH are tumor markers

57
Q

choriocarcinoma

A
  • rare, malignant trophoblastic tissue with no chorionic villi
  • abnormal bHCG, shortness of breath, hemoptysis
  • hematogenous spread to the lungs, very responsive to chemotherapy
58
Q

yolk sac/endodermal sinus tumor

A
  • aggressive in the ovaries or testes in young kids
  • yellow friable solid mass
  • 50% have Schiller Duval bodies that resemble glomeruli
  • AFP is tumor marker
59
Q

Krukenberg tumor

A
  • GI malignancy that mets to the ovaries

- causes a mucin-secreting signet cell adenocarcinoma

60
Q

fibroadenoma

A
  • tumor of fibrous tissue and glands
  • most common benign neoplasm of the breast, usually premenopausal women
  • responds to estrogen
  • well-circumscribed mobile, marble like mass
  • no increased risk for cancer
61
Q

intraductal papilloma

A
  • papillary growth into a duct that is characterized by fibrovascular projections lined by epithelial and myoepithelial cells
  • presents as bloody nipple discharge in a premenopausal woman
62
Q

phyllodes tumor

A
  • fibroadenoma like tumor with overgrowth of fibrous component that leads to “leaf-like” projections
  • most common in post menopausal women
  • can be malignant in some cases
63
Q

DCIS

A
  • malignant proliferation of cells that doesnt penetrate the basement membrane
  • usually presents as calcification on mammo, no mass
  • comedocarcinoma is a subtype where cells necrose and calcify (high grade cells with central calcification)
  • becomes paget disease when it extends to the nipple (eczematous patches on the nipple with large cells in the epidermis with clear halo)
64
Q

invasive ductal carcinoma

A
  • firm, fibrous, rock-hard mass with sharp margins and small, glandular duct-like cells
  • “stellate” infiltration
  • worst and most invasive, most common of all breast cancers
65
Q

medullary carcinoma

A
  • subtype of ductal carcinoma that is fleshy, cellular with lymphocytic infiltrate
  • good prognosis
66
Q

inflammatory breast cancer

A
  • dermal lymphatic invasion by ductal carcinoma leads to edema and Peau d’orange
  • 50% survival at 5 years
67
Q

invasive lobular carcinoma

A
  • orderly row of cells - single file line due to no E-cadherin, doesnt form ducts
  • often bilateral with multiple lesions in the same location
68
Q

LCIS

A
  • malignant proliferation of cells in lobules with no invasion of basemente membrane
  • usually incidental finding because no calcifications or mass
  • cells lack E-cadherin
  • often multifocal and bilateral
  • treat with tamoxifen
69
Q

acute mastitis

A
  • usually due to staph aureus

- treat with dicloxacillin and keep breast feeding