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USLME Kiss my ass and pray > Repro/Genetics DIT > Flashcards

Repro/Genetics DIT Flashcards

1
Q

layers of the penis?(6)

A 
outer dermis
dartos fascia
deep bucks fascia
tunica albuginea covers
-2 copora cavernosa
-1 corpus spongeosum
urethra
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2
Q

Autonomic stimulation of male sex response

  • Associated pathway w/ errection
  • Increased what moleculy?
A

Point and shoot
Parasympathetic -> errection
- NO is release -> increased cGMP-> smooth muscle relaxation -> vasodilatation

Sympathetic -> emission
-move seamen to testes to prostate

Ejactulation - visceral and somatic nerves

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3
Q

Nerves carrying autonomic signal for male sexual response

3

A

Parasympathetic - pelvic

Sympathetic - hypogastric

Ejaculation - pudendal

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4
Q

landmark for pudendal nerve block?

A

ischial spine

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5
Q

3 ligaments connecting the the female reproduction to the pelvic wall
- connect specifically to?

A

cardinal ligament -> cervix (uterine artery)
suspensatory ligament -> ovary (ovarian artery)
broad ligament -> fallopian tube, uterus, ovary

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6
Q

Round ligament of the uterus is a remnant of what and connects to what

A

remnant of gubernaculum and connects to the labia majora

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7
Q

What connects the ovary to the uterus

A

ligament of the uterus

-NOT the round ligament

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8
Q

transition zone of the cervix composed of what histology

A

stratified squamous epithelial -> simple columnar epithelial

does not change much till cilia in the fallopian tube and cuboidal in the ovary

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9
Q

process vaginalis becomes what in the male and female?

A

male tunica vaginalis - just a covering

female - nothing

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10
Q

Which side of the body drains the gonadal/adrenal veins into the renal vein vs the directly into the IVC

A

Left

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11
Q

Lymphatic drainiage in repro?

Ovary/testes
proximal 2/3 vagina/uterus
distal 1/3 of vagina/scrotum

A

para aortic node

obterator, external iliac, hypogastric node

superficial inguinal node

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12
Q

SRY gene is responsible for?

A

production of testis determining factor and male sexual differentiation

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13
Q

Default path in sexual determination is ?

A

Female

- need SRY - testis determination factor

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14
Q

What does the mesonephric duct differentiate into in a male? (4)

Needs what to stimulate ?

A

Seminal vesicles
Epidydimis
vasdeferens
Ejactuatory Duct

NOT the prostate

Need testosterone

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15
Q

What cell produces the testosterone needed in early male differentiation?

What cell produces a product to stimulate the degeneration of the female parts precursor?

A

Leydig cell

Sertoli cell produces mullerian inhibitory factor to degenerate the paramesenphric duct

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16
Q

What leads the the creation of male external genitalia

Created by what enzyme?
- lack of this causes?

A

DHT

5 alpha aromatase
- leads to internally a male, externally a ambiguous

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17
Q

No Sertoli cells in a XY male would lead to ?

A
  • no mullerian inhibitory factor

development of both paramesenephric derivatives and mesenephric derivatives (hermaphrodite)

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18
Q

Adult kidney is derived from

A

metanephros

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19
Q

Biconeate nucleus is due to ?

A

improper fusion of the paramesonephric ducts

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20
Q

Urogenital folds become what in males and females

A

Males - ventral shaft of penis

Females - labia minora

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21
Q

the scrotum of the male is analogous to the what on the female

A

labia majora

  • labialscrotal precursor
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22
Q

hypospadius us what and due to?

A

urethra prematurely opening on the ventral shaft due to improper folding of the urogenital folds

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23
Q

Epispadius is often associated w/

A

extrophy of the bladder

Urethra is pointed up and the bladder wall can be exposed

due to faulty genital tubercle positioning

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24
Q

genital tubercle comes what in males and females?

A

clitoris

penis

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25
Q

paramesenephric duct gives rise to what 3 strutires

A

uterus
fallopian tube
upper portion of the vagina
- (lower is derived from urogenital sinus)

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26
Q

indirect hernias are found (2)

A

lateral to inferior epigastric and through the deep inguinal canal

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27
Q

direct hernias are found (2)

A

medial to the inferior epigastric and through the inguinal triangle (tear through inguinal canal)

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28
Q

femoral hernias are found (2)

A

beneath the inguinal ligament and through the femoral canal

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29
Q

Leydig cells are found where and produce what

Respond to ?

A

found in the interstitial tissue of seminiferous tubules

Make testosterone in response to LH

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30
Q

Sertoli cells are found where and produce what?

Respond to ?

A

found in the seminiferous tubule

  • maintains the Blood test barrier

Make

  • Androgen binding protein
  • inhibin in response to FSH

Also responsible for antimullerian hormone

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31
Q

Spermatogenisis begins when?

Which cells are diploid

Which cells are haploid

Which cells lost their sister chromatid?

A

puberty

primary spermatocytes
-made via mitsosis

secondary spermatocytes
-made via meiosis 1

spermatid
-made via meiosis2

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32
Q

3 Androgens are

A

Testosterone - testies
DHT -testies
Androstenedione - adrenal

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33
Q

Aromatase is located where and does what?

A

converts testosterone and androstenedione to estradiol and estrone in the adipose tissue

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34
Q

DHT production is inhibited by what drug?

A

Finasteride

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35
Q

Testosterone has what toxic effects (4)

A

masculiniaztion of females
lowers LH in males via neg feedback
gonadal atrophy
high LDL and low HDL

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36
Q

Exogenous testosterone can have what disastrous effect on kids?

A

closes the epiphyseal plates early

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37
Q

Androgen insensitivity presentation?

Labs?
LH
Testosterone
Estrogen

A

XY female w/ short vagina - (antimullerian still working so no upper 2/3, but no testosterone -> DHT)

normal looking female otherwise other than testies in the labia majora

Testosterone is HIGH - receptors donā€™t notice
LH is HIGH
Estrogen is HIGH - being converted by aromatase

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38
Q

Female w/ bilateral lumps in labia majora

A

androgen insensitivity

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39
Q

ambiguous sex until puberty where develops male secondary sexual characteristics - internally male characteristics

Lab values
LH
Testosterone
Estrogen

A

auto recessive 5 alpha reductase deficieny

XY male that cant convert testosterone to DHT

LH normal
Testosterone is normal
Estrogen is normal
DHT is LOW

For comparison a testosterone tumor would have high testiest-> low LH

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40
Q

True hermaphoditism

A

BOTH ovaries and testicular tissue present - very rare

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41
Q

Female that is primary amenorrea and cannot smell

Genetic default?

A

Kallman syndrome
-low GnRH -> low testosterone and LH

X linked KAL chain mutation

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42
Q

Female pseudohermaphrodite

examples?

A

XX female w/ internal ovaries but ambiguous/male genitalia

  • congenital adrenal insufficiency
    • (21 beta hydroxylase deficiency most common)
  • exogenous exposure to androgens during pregnancy
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43
Q

Male pseudohermaphrodite

examples?

A

XY male w/ internal testies but ambiguous/female genitalia

-androgen receptor deficiency

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44
Q

Elevated AFP(alpha feto protein) w/ testicular lump? (2)

A

Yolk sac tumor*

Teratoma 50%

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45
Q

Elevated bPH w/ testicular lump? (3)

A

Choriocarcinoma*

Teratoma
embryonal carcinoma

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46
Q

Epidydimitis most commonly caused by (3)

A

< 35 yrs GC and chlamydia )
-Doxy and ceftriaoxne RX

> 35 yrs/ anal sex enterobacteria
- Rx floroquinolones

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47
Q

Sudden onset of pain in the testicle w/ no relief w/ elevation

Rx?

A

testicular torsion

medical emergency need to manually untwist or surgical intervention

-absent cremaster

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48
Q

Undecended testicles called?

High risk of?(2)

A

Cryptochorchidism, usually unitlaeral

increased risk of

  • germ cell tumors
  • infertility
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49
Q

Bag of worms upon palpation of pampiform plexus? due to?

Not to be confused w/

A

Varicocele - patent tunica vaginalis

Hydrocele which transluminates
-spermatocele if dilated epidydymal duct

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50
Q

Most common testicular tumor affecting males 15-30

Prognosis?

Histology?

A

Seminoma

Excellent

Fried egg appearance - large cells w/ watery cytoplasm

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51
Q

Yellow mucinous tumor in a 3 year old male from his testie is?

Secreting?

A

Yolk sac tumor

Secreting AFP

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52
Q

Schiller Duval bodies found in?

A

yolk sac tumors

  • resemble primitive glomeruli
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53
Q

High hCG seen in this testicular tumor

due to?

Concern of?

A

choriocarcinoma
- may also see in teratoma and embryonal carcinoma

disordered synctiotrophoblasts and cytotrophoblasts

hematogenous METS to the lung

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54
Q

glandular papillary morphology seen in a testicular tumor that was very painful

secretes?

A

embryonal carcinoma
- worst prognosis

may secrete - hCG
NORMAL - AFP if pure (increased if mixed)

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55
Q

multiple tissue types seen in a testicular tumor

A

teratoma

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56
Q

Tumor containing Reinke Crystals and male patient may present w/ gynecomastia

associated w/ (3)

A

Leydig cell tumor
- crystals are lipofusion pigment and rod shaped

exess testosterone being made
golden brown color
precoious puberty in boys

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57
Q

excess estrogen tumor in males

A

Sertoli tumor

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58
Q

Testicular tumor in a older male

A

Testicular lymphoma

METS

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59
Q

Common causes of Sexual dysfunction (3)

3 specific examples of each category except for 1

A

Drugs*

  • Antihypertensives
  • nuerolptics
  • SSRIs
  • ethanol

Disease

  • DM*
  • depression*
  • atherosclerosis*

Psychogenic
-performance

*=80%

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60
Q

Severe drug -drug concern w/ sildenafil and what drug?

Other Side effects?(4)

A

Nitrates -> hypotension

Flushing
dyspepsia -
blue green color blindness
HA

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61
Q

Other uses of sildenafil

A

ED

also primary pulmonary HTN
Reynaulds

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62
Q

Bowen disease is?

risk of?

A

grey solitary crusty plaque on the shaft of penis

Squamous cell Carcinoma

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63
Q

Erythroplasia of Queyrat

A

red velvety plaque on the glans of the penis

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64
Q

Bowenoid disease

A

multiple reddish brown papules -

-No risk of Squamous cell

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65
Q

Balanitis

Due to ?

A

inflammation of the glans of the penis

Often due to candida
- also increased risk w/ DM and uncircumcised

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66
Q

BPH is most commonly found where

Hyperplastic or hyperplasia?

A

periurethral in the lateral and middle lobes

hyperplasia

Not felt in DRE
modest PSA increase

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67
Q

Moderate increase in PSA and nodular felt on posterior lobe w/ DRE?

A

prostatic adenocarcinoma

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68
Q

New onset of lower back pain, nontarumati in a male greater than 60

Check what labs(2)

A

Osteoblastic METS of prostate

PSA and alkaline phos

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69
Q

Rx for prostrate cancer

A

flutamid

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70
Q

dysuris, frequency, urgency and low back pain suspect in a male

A

prostiatis

Rx w/

  • floroquinolones
  • TMP-SMX
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71
Q

3 types of estrogen

  • where are they found?
  • Most potent
A

Estrone - males/females from peripheral aromatase

estradiol* - females from ovaries

estriol - from placenta

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72
Q

2 cell theory in estrogen production

Which gonadotropin is responsible for each?

A

theca cells responding to LH make androstenedione from cholesterol

Converted by granulosa cells w/ FSH stimulation to estradiol using aromatase

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73
Q

Ovulation is due to?

A

FSH matures a follicle ->

  • > Estrogen being slowly made
  • > positive feedback on GnRH and anterior pit
  • > LH production and surge (inhibin blocks FSH)
  • > ovulation

Follicle -> corpus lutem
-> progesterone and estrogen suppressing LH and FSH until dies 2 weeks later

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74
Q

Positive effect estrogen on heart

A

increased HDL and decreased LDL

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75
Q

Progesterones functions(5)

A

maintains pregnancy

decreases myocyte contractibility/ smooth muscle relaxation

produces thick cervical mucus to protect from infection and sperm

inhibits LH and FSH

withdrawal leads to menstration (w/out beta hCG)

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76
Q

Role of estrogen(5)

A 
growth of follicle
endometrial profliferation
secondary sex characteristics
up regulation of estrogen receptors
increases transport proteins
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77
Q

Which stage of menstrual cycle is steady and what is the length

A

The luteal/secretory stage is always 14 days

the follicular/proliferative is more variable

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78
Q

Oligomenorrhea

A

> 35 day cycles

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79
Q

polymenorrhea

A

<21 day cycles

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80
Q

Menorrhagia

A

heavy periods

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81
Q

metrorrhagia

A

irregular frequent periods

think of the metro

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82
Q

menometrorrhagia

A

combination

  • heavy periods
  • irregular and frequent periods
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83
Q

Mittelschmerz

A

brief pain felt w/ ovulation (mid cycle pelvic pain)

Usually brief 5 min

can mimic appendicitis

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84
Q

when does a womenā€™s basal temp go up in a cycle and due to what hormone

A

24 hrs after ovulation due to progesterone

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85
Q

Fertilization most often occurs where and when

A

upper end of the fallopian tube

1 day after ovulation

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86
Q

When does implantation of trophoblasts occurs?

Can detect beta hCG in Serum?
in Urine?

A

6 days after fertilization

blood - 1 week

urine -2 weeks (post missed period)

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87
Q

Beta HCG is similar to what other hormones(3)

A

LH
FSH
TSH
-similar alpha units

only differs w/ the beta

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88
Q

Which hormones increase throughout pregnancy? (3)

A

prolactin
progesterone
estriol

beta hCG peaks at first than drops then has a later peak before tapering off and inducing labor

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89
Q

lactation is due to what hormone change

A

decrease in progesterone, need to get rid of the placenta (

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90
Q

Suckling increases the production of what hormones? (2)

A

prolactin - milk lactation and lower reproductive function

Oxytocin- bonding and milk letdown

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91
Q

after the corpus luteum in 6 weeks, progesterone primarily is derived from?

A

synctiotrophoblasts of the placenta

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92
Q

Hormone most directly responsible for ovulation

A

LH surge

Due to building estrogen induced positive feedback

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93
Q

Contraindications for OCPs? (3)

A

smokers > 35
migraines w/ aura
history of estrogen dependent tumor

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94
Q

Why does OCP help w/ acne

A

increases steroid binding proteins in the liver leading to less testosterone

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95
Q

Complications of OCPs

A 
Hypercoaguable state (DVT risk)
increased triglycerides
Gi/ Nausea
Mood changes
HTN
Rarely weight gain
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96
Q

2 biggest concern w/ depo-provera shot

A

Bone mineral density loss - use less than 2 yrs

Irregularity on length of action (3-12 months)

Good when unknown reliability of taking medications (OCP) and mental retardation

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97
Q

Why is progesterone given w/ estrogen replacement therapy

A

Unopposed estrogen -> increased endometrial CA risk

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98
Q

Indications for Hormone replacement therapy in women (2)

A

Hot flashes and vaginal atrophy

Not osteoperosis - use bisphosphates

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99
Q

what canā€™t a smoker over the age of 35 have

A

OCPs

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100
Q

Menopause symptoms

Lab test?

A

HHVAOC

Hirsituism
Hot flashes
Vaginal Atrophy
Osteroperosis
Cardiovascular risk

Increased FSH, also LH and GnRH

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101
Q

rifampin is given to a girl who is on OCPs and she gets pregnant. Why?

A

Inducing Cyp 450

Coronas, Guiness and PBRS induces Chronic Alcoholism

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102
Q

diffuse painless feeling of sitting on an egg or protrusion in a female?

A

prolapsed organ

cystocele- bladder
rectocele- rectum
enterocele - small intestine

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103
Q

Vaginismus

A

spasm of the vaginal wall w/ touch leading to pain

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104
Q

vestibulitis

A

burning at the opening of the vagina

- psych, trauma of infection may be the cause

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105
Q

positive desmin stain and spindle shaped cells seen in a tumor in a female less than 4

A

Sacroma botryoides - rhabdomyosarcoma

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106
Q

viral products of HPV leading to CIN and VIN (2)

A

E6 degrades p53

E7 -inhibits Rb suppression

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107
Q

enlarged dark nuclei w/ perinuclear clearing

A

koilocytes in HPV

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108
Q

lateral invasion that can block the ureters is a rare complication of this carcinoma

A

invasive cervical carcinoma
- usually squamous cell

10% adenocarcinoma

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109
Q

most common tumor in women

A

Leiomyoma

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110
Q

Most common gynecologic malignant CA in women worldwide

A

Cervical Cancer

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111
Q

Most common gynecologic malignant CA in women in the US

A

Endometrial Cancer

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112
Q

Chocolate cysts

Pathology also found

A

endometriosis of the ovary

also found in the peritoneum

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113
Q

Symptoms of endometrious (4)

Rx?

A 
perimenopausal pain (1 week before)
pain w/ intercourse
pain w/ defication
Blood in stool or urine

OCPs
Leuprolide
danazol - historical

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114
Q

Perimenopausal pain w/ enlarging uterus

Pathology?

Diagnosis by?

A

Adrenomyosis

endometial tissue in the myometrium

Diagnosis is by Rx - hysterectomy

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115
Q

Dysparuneia

Highly suggestive of?

A

Pain w/ intercourse

endometriosus
adenomyosis*

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116
Q

Smooth muscle w/ endometrial tissue and sawtooth pattern

A

adenomyosis

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117
Q

excess unopposed estrogen leads to these 2 issues

A

endometerial hyperplasia

endometrial carcinoma

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118
Q

Gynecological cancer with the worst prognosis?

A

Ovarian

Found so late it METS

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119
Q

Clinical manifestation of postmenopausal bleeding or menorrhagia/metorrhagia after 35?

Increased risk w?(3)

A

endometrial hyperplasia -> endometrial carcinoma

anovulatory cycles
Hormone replacement therapy
polycystic syndrome

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120
Q

Risk Factors for endometrial carcinoma?

A 
Hyperplasia
HTN
Obesity - (increased aromatase action)
Nullparity
Diabetes
Annovulatory cycles

late menopause/early menarche

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121
Q

Whorled pattern of smooth muscle that is well circumscribed

A

leiomyoma

122
Q

Symptoms of leiomyoma (4)

A

Asymptomatic *
Abnormal uterine bleeding

bulk symptoms
rarely pain

123
Q

Bulky irregularly shaped gynecological tumor w/ areas of necrosis

risk of recurrence?

A

leiomyosarcoma

HIGH, same as w/ leiomyoma but have no relation (de novo)

124
Q

Mitotic spindle and desmin + tumor w/ a high rate of recurrence tumor that is very aggressive in 20-40 yr old black female

A

leiomyosarcoma

125
Q

What circumstances may you see a high LH (4)

A

PCOS
periovulation
menopause
androgen insensitivity syndrome

126
Q

A patient w/ PCOS is most at risk for developing what cancer?

A

endometrial cancer

127
Q

What is the underlying cause of PCOS?

A

Increased LH

128
Q

Treatment of PCOS and why?(6)

A 
Spiranolactone - Hirsutism
Clomiphene - pregnancy
Leuprolide - pregnancy
Weight lose - for less aromatase
Metformin - for insulin resistance
medroxyprogesterone - for CA risk and feedback on LH -> lower androgens-> increased SBGH (acne)
129
Q

Symptoms of PCOS (3 main) (4 associations)

Lab Tests?(4)
LH
FSH
Testosterone/androgen
Insulin
A

amenorrhea
Hirsutism
cysts on US

Acne
Obesity
Insulin resistance
Infertility

Increased LH:FSH
->increased androgens w/ high LH
->Increased estrogen (aromitization)
->decreased FSH (neg feedback)
Increased insulin
130
Q

Test for premature ovarian failure

A

HIGH FSH

under 40 yrs should be normal

131
Q

Most common cause of anovulation ?

Also (4)

A

pregnancy

PCOS
Obesity ( high estrogen from aromatase)
Starving/stress
Endocrine
-Cushing
-thyroid
-hyperprolactemia
-adrenal insufficiency
132
Q

Chemical menopause

A

leuprolide

133
Q

Useful drug in infertility Rx

Symptoms?

A

clomiphene
-partial estrogen agonists

hot flashes
ovarian hyperstim and enlargement
twins
visual disturbances
GI and Breast āˆ†
134
Q

distention of unruptered graafian follicle is?

More often seen in?

A

follicular cyst, failure of dominant follicle to release egg

very common in young women - especially
-smokers,
tomoxifen
progesterone only birth control

135
Q

hemorrhage of a blood vessel into a persistent corpus luteum

A

hemorrgagic corpus luteum cyst - usually self resolving

136
Q

ovarian torsion more often in (2)

A

congenital abnormalities

ovarian cysts -> ovary > 5 cm

137
Q

CA- 125

A

Useful ovarian CA marker to follow

138
Q

Risk factors of ovarian CA (2)

A

pronged uninterrupted cycles
- null parity, late menopause, early Menarche,

Brease feeding protective

Family risk - HNPCC/Lynch and BRCA 1 and 2

139
Q

4 Main types of ovarian tumors

A

Epithelial
Germ Cells
Stroma
Metastatic

140
Q

6 main types of epithelial ovarian cancers

A

SERious Menstrual ENemies CLEARly BRing MIsery

Serous (cystadenoma or cystadenocarcinoma)
Mucinous (cystadenoma or cystadenocarinoma)
Endometroid
Clear Cell Adenoma
Brenner
Mixed

141
Q

4 main type of ovarian germ cell cancers

A

Dysgerminoma
Teratoma
Endodermal Sinus
Choriocarcinoma

142
Q

3 main type of stromal/sex cell ovarian CA

A

Granululosa Theca
Leydig Sertoli
Fibroma

143
Q

Sheets of uniform cells found in a ovarian CA that is secreting hCG and LDH

often associated w/

A

Dysgerminoma

Turner syndrome

144
Q

Ovarian tumor where chorionic villi are not present and high secretion of b hCG

risk of spread where?

A

Choriocarcinoma

to the lungs

145
Q

Yellow friable mass of a ovarian tumor w/ Schiller Duval bodies (little glomeruli)

Secretes what?

A

Yolk sac tumor

Secretes AFP

146
Q

Difference between an Immature and Mature Teratoma in ovarian CA

A

Mature also called a dermoid cyst, more common and is benign

Immature is aggressively malignant w/ immature neural elements

147
Q

Struma ovarii

A

a type of mature teratoma that contains functional thyroid tissue
-> hypeerthyroidism

148
Q

Ovarian tumor resembling a fallopian tube (ciliated) and is frequently bilateral

A

serous cystadenoma

Most common

149
Q

Psammoma bodies seen in this ovarian CA

A

serous cystadenocarcinoma

malignant

150
Q

benign intestine like tissue w. mucous secreting epithelium seen on pathology of a ovarian tumor

A

mucinous cystadenoma

151
Q

intraperitoneal accumulation of mutinous material from ovarian tumor is called?

Which tumor?

A

pseudomyxoma peritonei

mucinous cystadenocarcinoma
- looks like an intestinal adenoma

152
Q

ovarian tumor defined by transitional epithelium and coffee bean nuclei

A

Brenner tumor

looks like a bladder

153
Q

Meigs syndrome is what?

Associated w what ovarian tumor that is describes as pulling sensation in the groin?

A

Ovarian fibroma
ascitis
hydrothorax (pleural effusion)

Fibroma

154
Q

Ovarian tumor that leads to precious puberty in females?

Seen on pathology?

A

Granulosa theca tumor

call exner bodies - disarrayed granulosa cells that make pup small follicles filled w/ eiosinophilic secretions

155
Q

disarrayed granulosa cells that make pup small follicles filled w/ eiosinophilic secretions pathology term

Seen in?

A

Call exner bodies

seen in granulosa theca cells

156
Q

Kruckenberg tumor

A

GI METS to the ovary

mucin secreting signet cell adenocarcinoma

157
Q

GI METS to the ovary

Seen on path?

A

Kruckenberg tumor

mucin secreting signet cell adenocarcinoma

158
Q

Rare ovarian tumor leading to viralization

A

Sertoli leydig

Can get quite large

159
Q

Endometroid tumor

A

adenocarcinoma that is a epithelial ovarian tumor

looks like endometrium

160
Q

Maternal contribution to the placenta?

A

decidua basalis

161
Q

stem cell precursor of the placenta vs the b HCG secreter portion

A

cytorophoblasts contain stem cells

Syncytiotrophoblasts are the outer layer -> b hCG

162
Q

Gravida vs Parity

A

Gravida is number of pregnancies

Parities in # of deliveries > 20 wks

163
Q

Umbilical cord is made of

-go to

A

2 uterine arteries from the internal iliac arteries

1 uterine vein -> ductus venosis and IVC

164
Q

Urine discharge around the umbilicus is due to what defect?

suppose to become?

A

patent urachus (connects the bladder to the yolk sac)

Urachus -> median umbilical ligament

165
Q

vesicourachal diverticulum is

A

outpouching of the bladder

166
Q

Meconium discharge from the umbilicus due to?

A

vitilline fistula (connected the midgut to the yolk sac)

167
Q

partial closure of the vitelline duct is called?

Symptoms?

A

meckels diverticulum

melana, periumbilcal pian and ulcer

168
Q

number of chorions and amnions w/ twinning?

Monozygotic timeline

Dizygotic timeline

A

Dizygotic always has 2

Monozygotic
-Split at 0-4 days: dichorionic/diamniotic

  • Split 4-8 days (morula): monochorionic/diamniotic
  • Split 8-12 days (blastocyst): monochorionic/monoamniotic (aka sharing everything)
169
Q

Change in CO and plasma volume with pregnancy?

Other changes? (4)

A

CO increases 30-50%
Plasma volume increases 50%

respiratory alkalotic w/ hyperventilation
increased GFR
increased prolog factors
peripheral insulin resistance

170
Q

human placental lactogen released in pregnancy leads to?

A

hyperinsulemia
hyperglycemia
hyperlypidemia

want to get nutrients to the baby

171
Q

What is RhoGAM?

A

anti Rh IgG to prevent mom(Rho -) from forming Antibodies to Rh factor

next kid is screwed if IgG antibodies are made

172
Q

lecithin sphringomylein useful indicator of what?

A

lung maturity > 2.0

173
Q

Chorionic sampling va amniocentesis

A

CVS is direct sampling of fetal chromosome from the placenta - more risk

amniocentesis- quad and triple screen looking for trysomy - definitive vs mother serum

174
Q

AFP can be increased in pregnancy screenings for what 3 complications

A

neural tube defects
multigravida(twins)
abdominal wall abnormalities

improper dating also

175
Q

Decreased AFP and estriol w/ increased hCG during maternal screen is indicative of

A

Trisomy 21

176
Q

Decline in all 3 indicators ( AFP, hCG and Estriol) indicative of

A

Trisomy 18

177
Q

Placenta previa presentation

Rx?

A

attachment of placenta that covers the cervical os or near

presents as painless bleeding in 3rd trimester
- Use and US not your fingers

Rx is c section

178
Q

Vasa previa

A

fetal blood vessels cover the cervix

Risk of fetal hemmohage

179
Q

Lower than expected hCG for dates and sudden lower abdominal pain

Risk Factors

A

Ectopic pregnancy

Risk factors

  • infertility Hx
  • PID
  • prior surgery
  • endometriosis
  • IUD IF manages to get pregnant
180
Q

Causes of polyhydraminos(3)

A

esophageal atresia
duodenal atresia
anecephaly - lack of swallowing reflex

181
Q

Causes of olighydraminos (3)

A

placental insufficiency
bilateral renal agenesis (potters syndrome)
poterior urethral valves)

182
Q

Potters syndrome(3)

A

not enough fluid in the placenta that can be due to bilateral renal w/

  • oligohydraminos
  • facial/limb abnormalities
  • pulmonary hypoplasia
183
Q

Causes of miscarriage (6)

A 
low progesterone
chromosomal anomalies - spontaneous trisomy16***
uterine abnormalities
infection
poor mother heath
Autoimmune/clotting disorder
184
Q

Gestational diabetes is due to ?

leads to?

RX?

A

human placental lactogen -> increased insulin resistance and hyperglycemia after 20 weeks

high risk of DMII later on

Macrosomia - big baby
still birth w/ toxicity to the placenta

Rs - insulin tight control

185
Q

Type I or II DM risk in addition to what normally is seen in gestational diabetes(3)

A

fetal anomalies

  • congenital heart defects
  • nerual tube defects
  • caudal regression syndrome

in addition to usual stillbirth and miscarriage risk

186
Q

Placenta accreta is?

Increased risk w?

A

defective attachment of placenta to the myometrium and leads to retained placenta

Increased risk w/ c section ( which also has an increased risk in placenta previa)

187
Q

Painful bleeding in 3rd trimester

Risk factors?

A

premature detachment of the placenta
- life threatening

Risk w?
Trauma/abuse/MVA
Ischemia - Cocaine, smoking and HTN

188
Q

presentation of a pregnant mother in the 3rd rimester w/ anemia, jaundice, RUQ pain and bruising

Due to

A

Think of HELLP, often associated w/ preeclampsia

Hemolysis
elevated liver enzymes
Low platelets

189
Q

Eclampsia treatment

A

Magnesium sulfate IV

Watch for low DTR, pulmonary edema, altered mental status, cardiac conduction defect

190
Q

Definition of preeclampsia (3)

A

hypertension(>140/90 by 20 weeks)
proteinuria (>300mg/24hrs
edema

eclampsia w/ seizures

191
Q

uterus larger than expected for dates as well as very large beta hCG with HTN before 20 wks - think of

A

Complete hydroform mole

192
Q

abnormal bleeding w/ honeycomb or snowstorm appearance on ultrasound think of

Concern w?

A

hydroform mole - complete of not

Choricarcinoma if it is a complete mole

193
Q

Difference between complete and incomplete hydroform mole

A

Complete

  • XX or XY w/ empty egg fertilized
  • 15-20% malignant tophoblast
  • HIGH b hCG

PArtial

  • XXY, XXX w/ egg
  • fetal parts
194
Q

Common tocolytics (4)

A

Indomethacin
Magnesium sulfate
Tobutamine
Nefedipine

195
Q

Common meds to induce labor(3)

A

Misoprostol - PGE1
Dinoprostol - PGE2
Pitocin/Ocytocin

196
Q

Chemically induce an abortion and MOA

A

Mifepristone (RU 486) - competitive antagonist of progesterone

Misoprosterol - stimulate uterine contraction and expelling

197
Q

Drugs given in Mothers W/ HTN (3)

A

Meythyldopa
Hydralazine
lobetalol

198
Q

Drug given to mothers w/ hyperthyroidism

A

1st trimester propylthiouracil

methmazole after teratogen period

199
Q

Epilepsy concerns w/ a Mother and what medication changes do we consider (2)

A

Take of valproic acid if on it

INCREASE folic acid

200
Q

atrification L ventricle of the heart is associated w/ what drug

A

Lithium in Mothers

Ebsteins Anomaly

201
Q

Why is increased folic acid especially important w/ epilepsy patients

A

Taking medications that may lead to neural tube defects

Valproic acid is especially harmful

202
Q

Gene linked to Fragile X syndrome and function of that gene

A

FMR1
(X linked -> men predom)
- trinucleotide repeat disorder

cytoplasmic protein the in brain and testes -> mRNA production of axons and dendrites

203
Q

Symptoms/presentation of fragile X Syndrome(5)

What cardiac feature?

A 
macro-orchadism
long face
large jaw
everted ears
autism

Mitral valve prolapse

204
Q

Lab test of Down syndrome w/ 2nd semester quad screen

AFP
beta hCG
estriol
inhibin A

A

AFP - Down
b hCG - UP
estriol - Down
Inhibin A - UP

205
Q

Lab test of Edwards syndrome w/ 2nd semester quad screen

AFP
beta hCG
estriol
inhibin A

A

AFP Down
b hCG DOWN
estriol DOWN
inhibin A - Normal

206
Q

Lab test of Patau syndrome w/ 2nd semester quad screen

AFP
beta hCG
estriol
inhibin A

A

NOT DONE

1 st trimester may see decreased b hCG and PAPP A

207
Q

Nuchal translucency seen in (3)

A

Down Syndrome
Turner Syndrome
Patau Syndrome

208
Q

2 diseases of higher prevalence in Down Syndrome

A

ALL

Alzheimers

209
Q

Presentation of Down Syndrome (7)

2 specifically to look out for later complications right after birth?

A 
mental retardation
flat facies
prominent epicanthal folds
simian crease
gap between 1st 2 toes
duodenal atresia*
congenital heart disease*(endocardial cushion - VSD w/ crest cell migration failure)
210
Q

Downs may be caused by (3)

A

Advanced maternal age -> meiotic nondisjunction
Robertsonian translocation
Mosaic

211
Q

Severe mental retardation, rocker bottom feet, micrognathia, low set ears and prominent occiput

A

Edwards Syndrome

212
Q

Severe mental retardation, rocker bottom feet, microcephaly, cleft lip, holoprosencephaly, polydactyl

A

Platau

  • failure of the Sonic gene w/ holoprosencephaly
213
Q

severe mental retardation, high pitched crying, and microcephaly due to?

Cardiac abnormality?

A

microdeletion on chromosome 5

Cri-du chat syndrome

VSD

214
Q

Williams Syndrome is characterized by?(5)

A

Will Farrell in ELF

microdeletion on chromosome 7

elfin face
intelectual disability
increased verbal skills
extreme friendliness
hypercalcemia w/ Vit D senstitivity
215
Q

22q11 deletion characterized by

A

CATCH-22, failure of 3 and 4th pouch

Cleft lip
Abnormal Facies
Thymic dysplasia
Cardiac defects
Hypocalcemia (no parathyroids)

Digeorge most common

216
Q

2 types of 22q deletion presentations

A

Digeorge Syndrome

  • thymic,
  • parathyroid
  • cardiac defects

Velocardiofacial syndrome

  • palate
  • facial
  • cardiac defects
217
Q

Klinefelters syndrome characterized by?(5)

Labs?
FSH
testosterone
estrogen

A

XXY males w/
gynectomastia, long torso, testicular atrophy(hypogonadism), w/ infertility

Barr body (XX)

High FSH due to decreased inhibit (seminiferous tubules messed up)

low testosterone

estrogen high

218
Q

Turner syndrome characterized by?

Labs?
FSH
testosterone
estrogen

A

OX female that is short w/ broad chest cystic hygroma (webbed neck), streak ovaries

FSH is high
due to LOW estrogen

219
Q

Cardiac concerns w/ turners syndrome (2)

A

Bicuspid aortic valve
Coarctation of the aorta

Also has a horseshoe kidney

220
Q

biggest cause of primary amenorrhea

A

turner syndrome, need to R/o

221
Q

Autosomal Dom Diseases(13)

A 
achondroplasia
ADPKD
Familial adenomatous polyposis
Familial hypercholesterolemia
osler weber Rendu
Hereditary spherocytosis
Huntingtons
Marfans
Multiple endocrine neoplasm
Neurofibromatosis 1
neurofibromatosis 2
Tuberous Sclerosis
von Hippel Lindau disease
222
Q

advanced paternal age is associated w. this defect in FGF receptor 3 leading to

A

Achondroplasia

AD

223
Q

ADPKD associations beyond the kidney(3)

Affects chromosome?

A

Which is always bilateral

berry aneurisms
mitral valve prolapse
polycystic liver disease

Chromosome 16

224
Q

Adematous polyps after puberty due to ?

Which chromosome?

A

Chromosome 5 carrying the APC gene

225
Q

Gardners disease?

A

Gardening polyps and masses all over

polyps in the colon, osteomas, lipomas, sebaceous cysts

Related to FAP

226
Q

Familial hypercholesterolemia is due?

A

defective or absent LDL receptor leading to increase in LDL.

Auto Dom

227
Q

Kid in their 20s presenting w/ an MI think of

A

Familial hypercholeserolemia

May also have xanthomas

228
Q

Osler weber rendu is

Presentation(4)

A

disorder of blood vessels, AD
(also called hereditary hemorragic telangiectasia)

telangiectasia, recurrent epistaxis, skin discoloration (bruising), arteriovenous malformations

229
Q

Spheroid lymphocytes and increased MCHC are both found in ?

Defect in(2)

Rx?

A 
Hereditary spherocytosis (AD)
hemolytic anemia in the spleen by macrophages

ankyrin and spectrin -> increased concentration of Hg relative to size

Rx -splenectomy

230
Q

spectrin and ankyrin are defective in ?

Test for it?

A

Hereditary spherocytosis

Increased MCHC
osmotic fragility test

231
Q

Huntingtons presentation is characterized by (3)

lesion in the?

deficit in what neurotransmitters

A

depression, progressive dementia, choreiform movement

Lesion in caudate nucleus

Deficit in ACh and GABA

232
Q

Huntingtons gene is located on

Due to?

A

Chromosome 4, Auto Dom

trinucleotide repat CAG

Often presents around 40

233
Q

Marfans is due to a defect in ?

Presentation (3)

Path concerns(3)

A

Fibrillin 1 gene - Auto Dom

pectus excavatum
tall and lanky
hypermobile joints

cystic medial necrosis of aorta -> aneurysm or dissection
floppy mitral valve
subluxation of the lens

234
Q

subluxation of the lens w/ cardiac abnormalities especially the aortic root?

A

Marfans - Auto Dom

235
Q

MEN 1 tumors

A

Pituitary adenoma
Parathyroids adenoma
Pancreatic

(diamond)
p53 mutation
auto dom

236
Q

MEN2A tumors

A

Medullary thyroid carcinoma
Pheochromocytoma
Parathyroids

RET mutation - Auto Dom

237
Q

MEN2B tumors

A

Medullary thyroid carcinoma
Mucosal tumors
Pheochromocytoma

RET mutation - Auto Dom

238
Q

Neurofibromatosis 1 is found on chromosome?

A

17

Auto dominant

239
Q

Presentation of NF1 (4)

A

cafe au lair spots
neuronal tumors
Lisch nodules (pigments iris hamatomas)

scoliosis also

240
Q

Person somes in w/ bilateral hearing loss and juvenile cataracts think of?

what also may they have?

A

Neurofibromatosis type 2

tinitus, vision changes, hyper pigmentation, balance problems

Chromosome 22 - Auto dominant

241
Q

NF2 mutations is found on chromosome?

A

22

Auto dominant

242
Q

Adenoma sebaceum (facial lesions), and seizures, hypo pigmented spots of skin and mental retardation has?

is at increased risk for?(3)

A

Tuberous sclerosis - Auto dom

seizures are due to cortical harmatomas, also retinal harmatomas

Increased risk of astocytomas, renal angiomyolipomas, cardiac rhabdomyomomas

243
Q

Tuberous sclerosis inheritance

A

Auto dominent

incomplete penetrance -> variable presentation

244
Q

Von hippel lindeau findings? (3)

Associated w/ 50% of the time w?

A

hemangioblastomas of

  • retina
  • cerebellum
  • medulla

bilateral renal cell carcinomas

Auto dom disease

245
Q

VHL gene deletion of Chromosome 3 leads to

A

constitutive expression of HIF - transcription factor -> angiogenic growth facts and hemangioblastomas of retina, cerebellum and medulla

auto dom disease
von hippel lindeau - 3 words - chromosome 3

246
Q

Trinucleotide repeat diseases(4)

A

Fragile X
Friedreichs ataxia
Huntingtons
Myotonic dystrophy

247
Q

CGC

A

fragile X

248
Q

GAA

A

friedreichs ataxia

249
Q

CAG

A

Huntingtons

250
Q

CTG

A

Myotonic Dystrophy

251
Q

Anticipation means (2)

A

in future generations either have:
increased severity
decreased age of onset

252
Q

Auto Recessive disease(10)

A 
Albinism
ARPKD
cystic fibrosis
glycogen storage diseases
hemochromatosis
mucopolysacharidosis (except hunters)
PKU
sickle cell anemia
sphingolipdoses (except Fabrys)
thalassemia
253
Q

X linked disorders

A

Oblivious Female Will Give Her Boys xLinked Disorders

Ocular albinism
Fabrys
Wiskott Aldrich
G6PD deficiency
Hunters/Hemophila
Brutons Agammaglobulinemia
Lesch Nyhann syndrome
Dystrophy (Beckers/Duchene)
254
Q

Cystic fibrososis is caused by a defect where

What does the gene do?

A

CFTR gene on chromosome 7

Reabsorbs Cl from sweat
Secretes Cl into the lumens of GI tract and lungs -> loosen up

255
Q

Presentation of CF in an infant(3)

A

meconium ileus
fatty stools/ FTT (pancreatic def)
chronic bronchitis

256
Q

Complications of CF

A 
infertility in males
Fat soluble deficiencies (FTT)
-pancreatic insufficiency
chronic bronchitis
-bronchiectasis
Pseudomonal infections
meconium ilieus
257
Q

Rx for CF(3)

A

N acytylcysteine

Pancreatic enzymes

Floroquinolones for Pseudomonas

258
Q

Defect in alpha galactosidase will lead to?

Accumulate what?

A

Fabrys(X linked)

ceramide trihexoside

259
Q

2 X linked storage diseases

A

Fabrys and Hunters

260
Q

Defect in glucocerebrosidase will lead to?

Accumulate what?

A

Gauchers Disease

Accumulate Glucocerebroside

261
Q

Defect in Sphingomyleinase will lead to?

Accumulate?

A

Niemann Pick Disease

Sphingomylin

262
Q

Defect in Hexoaminidase A will lead to ?

Accumulate?

A

Tay Sachs

GM2 ganglioside

263
Q

Defect in Galactocerebrosidase will lead to?

Accumulate

A

Krabbe disease

Galactocerebroside

264
Q

Defect in arylsulfatase A will lead to ?

Accumulate

A

Metachromic leukodystrophy

Cerebroside sulfate

265
Q

Defect in alpha L iduronidase will lead to?

Accumulate

A

Hurlers Syndrome

Heparan sulfate and dermatan sulfate (same as Hunters)

266
Q

Defect in iduronate sulfatase will lead to ?

Accumulate?

A

Hunters Syndrome (X Linked)

Accumulate Heparan sulfate and dermatan (Same as Hurlers)

267
Q

Fabrys disease presents w?(3)

A

Pain and peripheral neuropathy
angiokeratomas*
cardiovascular/renal disease

-Alpha galactosidase def

268
Q

Gauchers disease presents w?(3)

A

Hepatosplenomegaly

  • aplastic necrosis of femur
  • (Pancytopenia)
  • macrophages look like tissue paper(Gaucher cells)

-glucocerebrosidase deficiency

269
Q

Niemann Picks Disease presents w?(4)

A

progressive neurodegeneration
Hepatosplenomegaly ** (tay sachs)
Cherry spot on macula
Foam cells*

Spingomyelinase deficiency

270
Q

Tay Sachs disease presents w?(3)

A 
progressive neurodegeneration
NO hepatosplenomegaly (Nieman PicK)*
developmental delay

death by 4
defect in hexosamindase A

271
Q

Krabbe Disease presentation?(4)

Similar to ?

A

(Myelin sheath disorder ->)
Peripheral neuropathy
Developmental delay
Optic atrophy

defect in galactocerebrosidase

Metachromic leukodytrophy

272
Q

Metachromic leukodystrophy presentation? (5)

Similar to

A 
(myelin sheath)
peripheral demyination
ataxia
dementia
progressive vision loss

Arylsulfatase A defect

Similar to Krabbe Disease

273
Q

Hurlers syndrome Presentation? (4)

Same class as?

A

Developmental delay
Gargoylsm (short/coarse facial features)
corneal clouding* (not in hurlers)
hepatosplenomegaly

defect in alpha L iduronidase

Hunters(X linked)

274
Q

Hunters syndrome presentation

Same class as?

A

Mild hurlerā€™s syndrome +
aggressive behavior
NO corneal clouding* (Hurlers)

Defect in iduronate sulfatase

Same class as Hurlers

275
Q

Causal agent of mastitis

A

Staph aureus

276
Q

Causes of gynecomastia?((4)

A

Drugs
Cirrosis
Klinfelters syndrome
hyper estrogen periods - old age, puberty

277
Q

Benign epithelial lesions of the breast

Proliferative (2)

Nonproliferative atypia(3)

A

Fibrosis- hyperplasia
Cysts - fluid filled cavities (blue domes)

Sclerosing adenosis - increased glandular tissue (may be Ca)
Epithelial hyperplasia - increase cell layer
Complexing sclerosisng lesion - scar of irregular shape

278
Q

Benign breast tumors (3)

A

fibroadenoma
intraductal papilloma
phyllodes tumor

279
Q

most common tumor under the age of 35

Characterized by?

A

Fibroadenoma

small mobile firm mass
āˆ†size and tenderness perimenstration

280
Q

Most common cause of breast discharge in a female

A

intraductal papilloma.

Bloody or straw colored, unilateral.

281
Q

Large bulky mass w/ leaf like projections in the breast

Risk of CA?

A

Phollodes tumor

small

282
Q

Risk factors for breast CA (3)

A 
increased estrogen exposure
-null parity, 
-lack of breast feeding
-older 1st child
Family history
 - BRCA
Obesity
-peripheral
283
Q

Common location of breast CA and biggest indicator of prognosis

A

Upper outer quadrant

lymph node involvement

284
Q

Erb2 codes for?

A

HER 2 receptor
an EGF growth factor the is over expressed on some Breast CA

Targeted w/ Trastuzunab

285
Q

Most common breast mass in post menopausal women

A

invasive ductal carcinoma

286
Q

most common breast mass in pre menopausal women

A

fibrocystic changes

287
Q

Most common form of breast cancer

A

invasibe ductal carcinoma

288
Q

Signet ring cells (2)

A 
lobular breast CA
Kruckenberg tumor (GI-> ovary)
289
Q

Loss of e cadherin adhesion on chromosome 16 is seen in

A

Lobular CA

  • invassive
  • in-situ
290
Q

always ER + and PR positive breast CA

A

Lobular CA

291
Q

Risk of Tamoxifen use?(2)

A

endometrial CA

osteoperosis

292
Q

Blue dome cyst in breast

A

fibrocytic changes

293
Q

Comedocarcinoma?

A

Subtype of DCIS w/ caseous necrosis

Also - solid, cribiform, papillary, micropapillary

294
Q

Invasive ductal carcinoma characterized by?

A

firm fibrous, rock hard mass that is immobile,

Stellate appearance

most common

295
Q

Most common invasive breast tumor to become bilateral?

A

invaslive lobular

ER + and PR +
signet cell ring

296
Q

INflammatory changes in a breast means what is going on?

See?

A

Dermal lymph involvement of invasive CA

pleu dā€™ orange(dimpling), nipple inversion,

297
Q

Eczematous patch on the areola and breast?

Histology

A

Concern of Pagets disease and underlying DCIS

large cells in the epidermis w/ clear ahlo

298
Q

Fleshy, cellular lymphocytic infiltrate of the breast?

A

Medullary tumor

299
Q

SERMS used in breast CA? (2)

Risks?

A

tomoxifen - prevent and treat ER + breast CA, risk of endometrial CA and bone

Raloxifene- used more for osteoporosis but can work w/ breast CA, NO endometrial risk

300
Q

Breast CA drug used post menopause

A

Aromatase inhibitors

-Anastrozole

USLME Kiss my ass and pray (33 decks)

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