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

Repro/Genetics DIT Flashcards

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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
paramesenephric duct gives rise to what 3 strutires
uterus fallopian tube upper portion of the vagina - (lower is derived from urogenital sinus)
26
indirect hernias are found (2)
lateral to inferior epigastric and through the deep inguinal canal
27
direct hernias are found (2)
medial to the inferior epigastric and through the inguinal triangle (tear through inguinal canal)
28
femoral hernias are found (2)
beneath the inguinal ligament and through the femoral canal
29
Leydig cells are found where and produce what Respond to ?
found in the interstitial tissue of seminiferous tubules Make testosterone in response to LH
30
Sertoli cells are found where and produce what? Respond to ?
found in the seminiferous tubule - maintains the Blood test barrier Make - Androgen binding protein - inhibin in response to FSH Also responsible for antimullerian hormone
31
Spermatogenisis begins when? Which cells are diploid Which cells are haploid Which cells lost their sister chromatid?
puberty primary spermatocytes -made via mitsosis secondary spermatocytes -made via meiosis 1 spermatid -made via meiosis2
32
3 Androgens are
Testosterone - testies DHT -testies Androstenedione - adrenal
33
Aromatase is located where and does what?
converts testosterone and androstenedione to estradiol and estrone in the adipose tissue
34
DHT production is inhibited by what drug?
Finasteride
35
Testosterone has what toxic effects (4)
masculiniaztion of females lowers LH in males via neg feedback gonadal atrophy high LDL and low HDL
36
Exogenous testosterone can have what disastrous effect on kids?
closes the epiphyseal plates early
37
Androgen insensitivity presentation? Labs? LH Testosterone Estrogen
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 don't notice LH is HIGH Estrogen is HIGH - being converted by aromatase
38
Female w/ bilateral lumps in labia majora
androgen insensitivity
39
ambiguous sex until puberty where develops male secondary sexual characteristics - internally male characteristics Lab values LH Testosterone Estrogen
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
40
True hermaphoditism
BOTH ovaries and testicular tissue present - very rare
41
Female that is primary amenorrea and cannot smell Genetic default?
Kallman syndrome -low GnRH -> low testosterone and LH X linked KAL chain mutation
42
Female pseudohermaphrodite examples?
XX female w/ internal ovaries but ambiguous/male genitalia - congenital adrenal insufficiency - - (21 beta hydroxylase deficiency most common) - exogenous exposure to androgens during pregnancy
43
Male pseudohermaphrodite examples?
XY male w/ internal testies but ambiguous/female genitalia -androgen receptor deficiency
44
Elevated AFP(alpha feto protein) w/ testicular lump? (2)
Yolk sac tumor* Teratoma 50%
45
Elevated bPH w/ testicular lump? (3)
Choriocarcinoma* Teratoma embryonal carcinoma
46
Epidydimitis most commonly caused by (3)
< 35 yrs GC and chlamydia ) -Doxy and ceftriaoxne RX > 35 yrs/ anal sex enterobacteria - Rx floroquinolones
47
Sudden onset of pain in the testicle w/ no relief w/ elevation Rx?
testicular torsion medical emergency need to manually untwist or surgical intervention -absent cremaster
48
Undecended testicles called? High risk of?(2)
Cryptochorchidism, usually unitlaeral increased risk of - germ cell tumors - infertility
49
Bag of worms upon palpation of pampiform plexus? due to? Not to be confused w/
Varicocele - patent tunica vaginalis Hydrocele which transluminates -spermatocele if dilated epidydymal duct
50
Most common testicular tumor affecting males 15-30 Prognosis? Histology?
Seminoma Excellent Fried egg appearance - large cells w/ watery cytoplasm
51
Yellow mucinous tumor in a 3 year old male from his testie is? Secreting?
Yolk sac tumor Secreting AFP
52
Schiller Duval bodies found in?
yolk sac tumors - resemble primitive glomeruli
53
High hCG seen in this testicular tumor due to? Concern of?
choriocarcinoma - may also see in teratoma and embryonal carcinoma disordered synctiotrophoblasts and cytotrophoblasts hematogenous METS to the lung
54
glandular papillary morphology seen in a testicular tumor that was very painful secretes?
embryonal carcinoma - worst prognosis may secrete - hCG NORMAL - AFP if pure (increased if mixed)
55
multiple tissue types seen in a testicular tumor
teratoma
56
Tumor containing Reinke Crystals and male patient may present w/ gynecomastia associated w/ (3)
Leydig cell tumor - crystals are lipofusion pigment and rod shaped exess testosterone being made golden brown color precoious puberty in boys
57
excess estrogen tumor in males
Sertoli tumor
58
Testicular tumor in a older male
Testicular lymphoma METS
59
Common causes of Sexual dysfunction (3) 3 specific examples of each category except for 1
Drugs* - Antihypertensives - nuerolptics - SSRIs - ethanol Disease - DM* - depression* - atherosclerosis* Psychogenic -performance *=80%
60
Severe drug -drug concern w/ sildenafil and what drug? Other Side effects?(4)
Nitrates -> hypotension Flushing dyspepsia - blue green color blindness HA
61
Other uses of sildenafil
ED also primary pulmonary HTN Reynaulds
62
Bowen disease is? risk of?
grey solitary crusty plaque on the shaft of penis Squamous cell Carcinoma
63
Erythroplasia of Queyrat
red velvety plaque on the glans of the penis
64
Bowenoid disease
multiple reddish brown papules - | -No risk of Squamous cell
65
Balanitis Due to ?
inflammation of the glans of the penis Often due to candida - also increased risk w/ DM and uncircumcised
66
BPH is most commonly found where Hyperplastic or hyperplasia?
periurethral in the lateral and middle lobes hyperplasia Not felt in DRE modest PSA increase
67
Moderate increase in PSA and nodular felt on posterior lobe w/ DRE?
prostatic adenocarcinoma
68
New onset of lower back pain, nontarumati in a male greater than 60 Check what labs(2)
Osteoblastic METS of prostate PSA and alkaline phos
69
Rx for prostrate cancer
flutamid
70
dysuris, frequency, urgency and low back pain suspect in a male
prostiatis Rx w/ - floroquinolones - TMP-SMX
71
3 types of estrogen - where are they found? - Most potent
Estrone - males/females from peripheral aromatase estradiol* - females from ovaries estriol - from placenta
72
2 cell theory in estrogen production Which gonadotropin is responsible for each?
theca cells responding to LH make androstenedione from cholesterol Converted by granulosa cells w/ FSH stimulation to estradiol using aromatase
73
Ovulation is due to?
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
74
Positive effect estrogen on heart
increased HDL and decreased LDL
75
Progesterones functions(5)
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)
76
Role of estrogen(5)
``` growth of follicle endometrial profliferation secondary sex characteristics up regulation of estrogen receptors increases transport proteins ```
77
Which stage of menstrual cycle is steady and what is the length
The luteal/secretory stage is always 14 days the follicular/proliferative is more variable
78
Oligomenorrhea
> 35 day cycles
79
polymenorrhea
<21 day cycles
80
Menorrhagia
heavy periods
81
metrorrhagia
irregular frequent periods think of the metro
82
menometrorrhagia
combination - heavy periods - irregular and frequent periods
83
Mittelschmerz
brief pain felt w/ ovulation (mid cycle pelvic pain) Usually brief 5 min can mimic appendicitis
84
when does a women's basal temp go up in a cycle and due to what hormone
24 hrs after ovulation due to progesterone
85
Fertilization most often occurs where and when
upper end of the fallopian tube | 1 day after ovulation
86
When does implantation of trophoblasts occurs? Can detect beta hCG in Serum? in Urine?
6 days after fertilization blood - 1 week urine -2 weeks (post missed period)
87
Beta HCG is similar to what other hormones(3)
LH FSH TSH -similar alpha units only differs w/ the beta
88
Which hormones increase throughout pregnancy? (3)
prolactin progesterone estriol beta hCG peaks at first than drops then has a later peak before tapering off and inducing labor
89
lactation is due to what hormone change
decrease in progesterone, need to get rid of the placenta (
90
Suckling increases the production of what hormones? (2)
prolactin - milk lactation and lower reproductive function Oxytocin- bonding and milk letdown
91
after the corpus luteum in 6 weeks, progesterone primarily is derived from?
synctiotrophoblasts of the placenta
92
Hormone most directly responsible for ovulation
LH surge Due to building estrogen induced positive feedback
93
Contraindications for OCPs? (3)
smokers > 35 migraines w/ aura history of estrogen dependent tumor
94
Why does OCP help w/ acne
increases steroid binding proteins in the liver leading to less testosterone
95
Complications of OCPs
``` Hypercoaguable state (DVT risk) increased triglycerides Gi/ Nausea Mood changes HTN Rarely weight gain ```
96
2 biggest concern w/ depo-provera shot
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
97
Why is progesterone given w/ estrogen replacement therapy
Unopposed estrogen -> increased endometrial CA risk
98
Indications for Hormone replacement therapy in women (2)
Hot flashes and vaginal atrophy Not osteoperosis - use bisphosphates
99
what can't a smoker over the age of 35 have
OCPs
100
Menopause symptoms Lab test?
HHVAOC ``` Hirsituism Hot flashes Vaginal Atrophy Osteroperosis Cardiovascular risk ``` Increased FSH, also LH and GnRH
101
rifampin is given to a girl who is on OCPs and she gets pregnant. Why?
Inducing Cyp 450 Coronas, Guiness and PBRS induces Chronic Alcoholism
102
diffuse painless feeling of sitting on an egg or protrusion in a female?
prolapsed organ cystocele- bladder rectocele- rectum enterocele - small intestine
103
Vaginismus
spasm of the vaginal wall w/ touch leading to pain
104
vestibulitis
burning at the opening of the vagina | - psych, trauma of infection may be the cause
105
positive desmin stain and spindle shaped cells seen in a tumor in a female less than 4
Sacroma botryoides - rhabdomyosarcoma
106
viral products of HPV leading to CIN and VIN (2)
E6 degrades p53 E7 -inhibits Rb suppression
107
enlarged dark nuclei w/ perinuclear clearing
koilocytes in HPV
108
lateral invasion that can block the ureters is a rare complication of this carcinoma
invasive cervical carcinoma - usually squamous cell 10% adenocarcinoma
109
most common tumor in women
Leiomyoma
110
Most common gynecologic malignant CA in women worldwide
Cervical Cancer
111
Most common gynecologic malignant CA in women in the US
Endometrial Cancer
112
Chocolate cysts Pathology also found
endometriosis of the ovary also found in the peritoneum
113
Symptoms of endometrious (4) Rx?
``` perimenopausal pain (1 week before) pain w/ intercourse pain w/ defication Blood in stool or urine ``` OCPs Leuprolide danazol - historical
114
Perimenopausal pain w/ enlarging uterus Pathology? Diagnosis by?
Adrenomyosis endometial tissue in the myometrium Diagnosis is by Rx - hysterectomy
115
Dysparuneia Highly suggestive of?
Pain w/ intercourse endometriosus adenomyosis*
116
Smooth muscle w/ endometrial tissue and sawtooth pattern
adenomyosis
117
excess unopposed estrogen leads to these 2 issues
endometerial hyperplasia endometrial carcinoma
118
Gynecological cancer with the worst prognosis?
Ovarian Found so late it METS
119
Clinical manifestation of postmenopausal bleeding or menorrhagia/metorrhagia after 35? Increased risk w?(3)
endometrial hyperplasia -> endometrial carcinoma anovulatory cycles Hormone replacement therapy polycystic syndrome
120
Risk Factors for endometrial carcinoma?
``` Hyperplasia HTN Obesity - (increased aromatase action) Nullparity Diabetes Annovulatory cycles ``` late menopause/early menarche
121
Whorled pattern of smooth muscle that is well circumscribed
leiomyoma
122
Symptoms of leiomyoma (4)
Asymptomatic * Abnormal uterine bleeding bulk symptoms rarely pain
123
Bulky irregularly shaped gynecological tumor w/ areas of necrosis risk of recurrence?
leiomyosarcoma HIGH, same as w/ leiomyoma but have no relation (de novo)
124
Mitotic spindle and desmin + tumor w/ a high rate of recurrence tumor that is very aggressive in 20-40 yr old black female
leiomyosarcoma
125
What circumstances may you see a high LH (4)
PCOS periovulation menopause androgen insensitivity syndrome
126
A patient w/ PCOS is most at risk for developing what cancer?
endometrial cancer
127
What is the underlying cause of PCOS?
Increased LH
128
Treatment of PCOS and why?(6)
``` 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
Symptoms of PCOS (3 main) (4 associations) ``` Lab Tests?(4) LH FSH Testosterone/androgen Insulin ```
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
Test for premature ovarian failure
HIGH FSH under 40 yrs should be normal
131
Most common cause of anovulation ? Also (4)
pregnancy ``` PCOS Obesity ( high estrogen from aromatase) Starving/stress Endocrine -Cushing -thyroid -hyperprolactemia -adrenal insufficiency ```
132
Chemical menopause
leuprolide
133
Useful drug in infertility Rx Symptoms?
clomiphene -partial estrogen agonists ``` hot flashes ovarian hyperstim and enlargement twins visual disturbances GI and Breast ∆ ```
134
distention of unruptered graafian follicle is? More often seen in?
follicular cyst, failure of dominant follicle to release egg very common in young women - especially -smokers, tomoxifen progesterone only birth control
135
hemorrhage of a blood vessel into a persistent corpus luteum
hemorrgagic corpus luteum cyst - usually self resolving
136
ovarian torsion more often in (2)
congenital abnormalities ovarian cysts -> ovary > 5 cm
137
CA- 125
Useful ovarian CA marker to follow
138
Risk factors of ovarian CA (2)
pronged uninterrupted cycles - null parity, late menopause, early Menarche, Brease feeding protective Family risk - HNPCC/Lynch and BRCA 1 and 2
139
4 Main types of ovarian tumors
Epithelial Germ Cells Stroma Metastatic
140
6 main types of epithelial ovarian cancers
SERious Menstrual ENemies CLEARly BRing MIsery Serous (cystadenoma or cystadenocarcinoma) Mucinous (cystadenoma or cystadenocarinoma) Endometroid Clear Cell Adenoma Brenner Mixed
141
4 main type of ovarian germ cell cancers
Dysgerminoma Teratoma Endodermal Sinus Choriocarcinoma
142
3 main type of stromal/sex cell ovarian CA
Granululosa Theca Leydig Sertoli Fibroma
143
Sheets of uniform cells found in a ovarian CA that is secreting hCG and LDH often associated w/
Dysgerminoma Turner syndrome
144
Ovarian tumor where chorionic villi are not present and high secretion of b hCG risk of spread where?
Choriocarcinoma to the lungs
145
Yellow friable mass of a ovarian tumor w/ Schiller Duval bodies (little glomeruli) Secretes what?
Yolk sac tumor Secretes AFP
146
Difference between an Immature and Mature Teratoma in ovarian CA
Mature also called a dermoid cyst, more common and is benign Immature is aggressively malignant w/ immature neural elements
147
Struma ovarii
a type of mature teratoma that contains functional thyroid tissue -> hypeerthyroidism
148
Ovarian tumor resembling a fallopian tube (ciliated) and is frequently bilateral
serous cystadenoma Most common
149
Psammoma bodies seen in this ovarian CA
serous cystadenocarcinoma malignant
150
benign intestine like tissue w. mucous secreting epithelium seen on pathology of a ovarian tumor
mucinous cystadenoma
151
intraperitoneal accumulation of mutinous material from ovarian tumor is called? Which tumor?
pseudomyxoma peritonei mucinous cystadenocarcinoma - looks like an intestinal adenoma
152
ovarian tumor defined by transitional epithelium and coffee bean nuclei
Brenner tumor looks like a bladder
153
Meigs syndrome is what? Associated w what ovarian tumor that is describes as pulling sensation in the groin?
Ovarian fibroma ascitis hydrothorax (pleural effusion) Fibroma
154
Ovarian tumor that leads to precious puberty in females? Seen on pathology?
Granulosa theca tumor call exner bodies - disarrayed granulosa cells that make pup small follicles filled w/ eiosinophilic secretions
155
disarrayed granulosa cells that make pup small follicles filled w/ eiosinophilic secretions pathology term Seen in?
Call exner bodies seen in granulosa theca cells
156
Kruckenberg tumor
GI METS to the ovary mucin secreting signet cell adenocarcinoma
157
GI METS to the ovary Seen on path?
Kruckenberg tumor mucin secreting signet cell adenocarcinoma
158
Rare ovarian tumor leading to viralization
Sertoli leydig Can get quite large
159
Endometroid tumor
adenocarcinoma that is a epithelial ovarian tumor | looks like endometrium
160
Maternal contribution to the placenta?
decidua basalis
161
stem cell precursor of the placenta vs the b HCG secreter portion
cytorophoblasts contain stem cells Syncytiotrophoblasts are the outer layer -> b hCG
162
Gravida vs Parity
Gravida is number of pregnancies Parities in # of deliveries > 20 wks
163
Umbilical cord is made of | -go to
2 uterine arteries from the internal iliac arteries 1 uterine vein -> ductus venosis and IVC
164
Urine discharge around the umbilicus is due to what defect? suppose to become?
patent urachus (connects the bladder to the yolk sac) Urachus -> median umbilical ligament
165
vesicourachal diverticulum is
outpouching of the bladder
166
Meconium discharge from the umbilicus due to?
vitilline fistula (connected the midgut to the yolk sac)
167
partial closure of the vitelline duct is called? Symptoms?
meckels diverticulum melana, periumbilcal pian and ulcer
168
number of chorions and amnions w/ twinning? Monozygotic timeline Dizygotic timeline
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
Change in CO and plasma volume with pregnancy? Other changes? (4)
CO increases 30-50% Plasma volume increases 50% respiratory alkalotic w/ hyperventilation increased GFR increased prolog factors peripheral insulin resistance
170
human placental lactogen released in pregnancy leads to?
hyperinsulemia hyperglycemia hyperlypidemia want to get nutrients to the baby
171
What is RhoGAM?
anti Rh IgG to prevent mom(Rho -) from forming Antibodies to Rh factor next kid is screwed if IgG antibodies are made
172
lecithin sphringomylein useful indicator of what?
lung maturity > 2.0
173
Chorionic sampling va amniocentesis
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
AFP can be increased in pregnancy screenings for what 3 complications
neural tube defects multigravida(twins) abdominal wall abnormalities improper dating also
175
Decreased AFP and estriol w/ increased hCG during maternal screen is indicative of
Trisomy 21
176
Decline in all 3 indicators ( AFP, hCG and Estriol) indicative of
Trisomy 18
177
Placenta previa presentation Rx?
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
Vasa previa
fetal blood vessels cover the cervix Risk of fetal hemmohage
179
Lower than expected hCG for dates and sudden lower abdominal pain Risk Factors
Ectopic pregnancy Risk factors - infertility Hx - PID - prior surgery - endometriosis - IUD IF manages to get pregnant
180
Causes of polyhydraminos(3)
esophageal atresia duodenal atresia anecephaly - lack of swallowing reflex
181
Causes of olighydraminos (3)
placental insufficiency bilateral renal agenesis (potters syndrome) poterior urethral valves)
182
Potters syndrome(3)
not enough fluid in the placenta that can be due to bilateral renal w/ - oligohydraminos - facial/limb abnormalities - pulmonary hypoplasia
183
Causes of miscarriage (6)
``` low progesterone chromosomal anomalies - spontaneous trisomy16*** uterine abnormalities infection poor mother heath Autoimmune/clotting disorder ```
184
Gestational diabetes is due to ? leads to? RX?
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
Type I or II DM risk in addition to what normally is seen in gestational diabetes(3)
fetal anomalies - congenital heart defects - nerual tube defects - caudal regression syndrome in addition to usual stillbirth and miscarriage risk
186
Placenta accreta is? Increased risk w?
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
Painful bleeding in 3rd trimester Risk factors?
premature detachment of the placenta - life threatening Risk w? Trauma/abuse/MVA Ischemia - Cocaine, smoking and HTN
188
presentation of a pregnant mother in the 3rd rimester w/ anemia, jaundice, RUQ pain and bruising Due to
Think of HELLP, often associated w/ preeclampsia Hemolysis elevated liver enzymes Low platelets
189
Eclampsia treatment
Magnesium sulfate IV Watch for low DTR, pulmonary edema, altered mental status, cardiac conduction defect
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Definition of preeclampsia (3)
hypertension(>140/90 by 20 weeks) proteinuria (>300mg/24hrs edema eclampsia w/ seizures
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uterus larger than expected for dates as well as very large beta hCG with HTN before 20 wks - think of
Complete hydroform mole
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abnormal bleeding w/ honeycomb or snowstorm appearance on ultrasound think of Concern w?
hydroform mole - complete of not Choricarcinoma if it is a complete mole
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Difference between complete and incomplete hydroform mole
Complete - XX or XY w/ empty egg fertilized - 15-20% malignant tophoblast - HIGH b hCG PArtial - XXY, XXX w/ egg - fetal parts
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Common tocolytics (4)
Indomethacin Magnesium sulfate Tobutamine Nefedipine
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Common meds to induce labor(3)
Misoprostol - PGE1 Dinoprostol - PGE2 Pitocin/Ocytocin
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Chemically induce an abortion and MOA
Mifepristone (RU 486) - competitive antagonist of progesterone Misoprosterol - stimulate uterine contraction and expelling
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Drugs given in Mothers W/ HTN (3)
Meythyldopa Hydralazine lobetalol
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Drug given to mothers w/ hyperthyroidism
1st trimester propylthiouracil | methmazole after teratogen period
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Epilepsy concerns w/ a Mother and what medication changes do we consider (2)
Take of valproic acid if on it INCREASE folic acid
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atrification L ventricle of the heart is associated w/ what drug
Lithium in Mothers Ebsteins Anomaly
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Why is increased folic acid especially important w/ epilepsy patients
Taking medications that may lead to neural tube defects Valproic acid is especially harmful
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Gene linked to Fragile X syndrome and function of that gene
FMR1 (X linked -> men predom) - trinucleotide repeat disorder cytoplasmic protein the in brain and testes -> mRNA production of axons and dendrites
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Symptoms/presentation of fragile X Syndrome(5) What cardiac feature?
``` macro-orchadism long face large jaw everted ears autism ``` Mitral valve prolapse
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Lab test of Down syndrome w/ 2nd semester quad screen AFP beta hCG estriol inhibin A
AFP - Down b hCG - UP estriol - Down Inhibin A - UP
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Lab test of Edwards syndrome w/ 2nd semester quad screen AFP beta hCG estriol inhibin A
AFP Down b hCG DOWN estriol DOWN inhibin A - Normal
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Lab test of Patau syndrome w/ 2nd semester quad screen AFP beta hCG estriol inhibin A
NOT DONE 1 st trimester may see decreased b hCG and PAPP A
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Nuchal translucency seen in (3)
Down Syndrome Turner Syndrome Patau Syndrome
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2 diseases of higher prevalence in Down Syndrome
ALL | Alzheimers
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Presentation of Down Syndrome (7) 2 specifically to look out for later complications right after birth?
``` 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) ```
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Downs may be caused by (3)
Advanced maternal age -> meiotic nondisjunction Robertsonian translocation Mosaic
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Severe mental retardation, rocker bottom feet, micrognathia, low set ears and prominent occiput
Edwards Syndrome
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Severe mental retardation, rocker bottom feet, microcephaly, cleft lip, holoprosencephaly, polydactyl
Platau - failure of the Sonic gene w/ holoprosencephaly
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severe mental retardation, high pitched crying, and microcephaly due to? Cardiac abnormality?
microdeletion on chromosome 5 Cri-du chat syndrome VSD
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Williams Syndrome is characterized by?(5)
Will Farrell in ELF microdeletion on chromosome 7 ``` elfin face intelectual disability increased verbal skills extreme friendliness hypercalcemia w/ Vit D senstitivity ```
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22q11 deletion characterized by
CATCH-22, failure of 3 and 4th pouch ``` Cleft lip Abnormal Facies Thymic dysplasia Cardiac defects Hypocalcemia (no parathyroids) ``` Digeorge most common
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2 types of 22q deletion presentations
Digeorge Syndrome - thymic, - parathyroid - cardiac defects Velocardiofacial syndrome - palate - facial - cardiac defects
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Klinefelters syndrome characterized by?(5) Labs? FSH testosterone estrogen
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
Turner syndrome characterized by? Labs? FSH testosterone estrogen
OX female that is short w/ broad chest cystic hygroma (webbed neck), streak ovaries FSH is high due to LOW estrogen
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Cardiac concerns w/ turners syndrome (2)
Bicuspid aortic valve Coarctation of the aorta Also has a horseshoe kidney
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biggest cause of primary amenorrhea
turner syndrome, need to R/o
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Autosomal Dom Diseases(13)
``` 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 ```
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advanced paternal age is associated w. this defect in FGF receptor 3 leading to
Achondroplasia AD
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ADPKD associations beyond the kidney(3) Affects chromosome?
Which is always bilateral berry aneurisms mitral valve prolapse polycystic liver disease Chromosome 16
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Adematous polyps after puberty due to ? Which chromosome?
Familial adenomatous polyposis - AD - Chromosome 5 carrying the APC gene
225
Gardners disease?
Gardening polyps and masses all over polyps in the colon, osteomas, lipomas, sebaceous cysts Related to FAP
226
Familial hypercholesterolemia is due?
defective or absent LDL receptor leading to increase in LDL. Auto Dom
227
Kid in their 20s presenting w/ an MI think of
Familial hypercholeserolemia May also have xanthomas
228
Osler weber rendu is Presentation(4)
disorder of blood vessels, AD (also called hereditary hemorragic telangiectasia) telangiectasia, recurrent epistaxis, skin discoloration (bruising), arteriovenous malformations
229
Spheroid lymphocytes and increased MCHC are both found in ? Defect in(2) Rx?
``` Hereditary spherocytosis (AD) hemolytic anemia in the spleen by macrophages ``` ankyrin and spectrin -> increased concentration of Hg relative to size Rx -splenectomy
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spectrin and ankyrin are defective in ? Test for it?
Hereditary spherocytosis Increased MCHC osmotic fragility test
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Huntingtons presentation is characterized by (3) lesion in the? deficit in what neurotransmitters
depression, progressive dementia, choreiform movement Lesion in caudate nucleus Deficit in ACh and GABA
232
Huntingtons gene is located on Due to?
Chromosome 4, Auto Dom trinucleotide repat CAG Often presents around 40
233
Marfans is due to a defect in ? Presentation (3) Path concerns(3)
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
subluxation of the lens w/ cardiac abnormalities especially the aortic root?
Marfans - Auto Dom
235
MEN 1 tumors
Pituitary adenoma Parathyroids adenoma Pancreatic (diamond) p53 mutation auto dom
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MEN2A tumors
Medullary thyroid carcinoma Pheochromocytoma Parathyroids RET mutation - Auto Dom
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MEN2B tumors
Medullary thyroid carcinoma Mucosal tumors Pheochromocytoma RET mutation - Auto Dom
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Neurofibromatosis 1 is found on chromosome?
17 | Auto dominant
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Presentation of NF1 (4)
cafe au lair spots neuronal tumors Lisch nodules (pigments iris hamatomas) scoliosis also
240
Person somes in w/ bilateral hearing loss and juvenile cataracts think of? what also may they have?
Neurofibromatosis type 2 tinitus, vision changes, hyper pigmentation, balance problems Chromosome 22 - Auto dominant
241
NF2 mutations is found on chromosome?
22 Auto dominant
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Adenoma sebaceum (facial lesions), and seizures, hypo pigmented spots of skin and mental retardation has? is at increased risk for?(3)
Tuberous sclerosis - Auto dom seizures are due to cortical harmatomas, also retinal harmatomas Increased risk of astocytomas, renal angiomyolipomas, cardiac rhabdomyomomas
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Tuberous sclerosis inheritance
Auto dominent | incomplete penetrance -> variable presentation
244
Von hippel lindeau findings? (3) Associated w/ 50% of the time w?
hemangioblastomas of - retina - cerebellum - medulla bilateral renal cell carcinomas Auto dom disease
245
VHL gene deletion of Chromosome 3 leads to
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
Trinucleotide repeat diseases(4)
Fragile X Friedreichs ataxia Huntingtons Myotonic dystrophy
247
CGC
fragile X
248
GAA
friedreichs ataxia
249
CAG
Huntingtons
250
CTG
Myotonic Dystrophy
251
Anticipation means (2)
in future generations either have: increased severity decreased age of onset
252
Auto Recessive disease(10)
``` Albinism ARPKD cystic fibrosis glycogen storage diseases hemochromatosis mucopolysacharidosis (except hunters) PKU sickle cell anemia sphingolipdoses (except Fabrys) thalassemia ```
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X linked disorders
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
Cystic fibrososis is caused by a defect where What does the gene do?
CFTR gene on chromosome 7 Reabsorbs Cl from sweat Secretes Cl into the lumens of GI tract and lungs -> loosen up
255
Presentation of CF in an infant(3)
meconium ileus fatty stools/ FTT (pancreatic def) chronic bronchitis
256
Complications of CF
``` infertility in males Fat soluble deficiencies (FTT) -pancreatic insufficiency chronic bronchitis -bronchiectasis Pseudomonal infections meconium ilieus ```
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Rx for CF(3)
N acytylcysteine Pancreatic enzymes Floroquinolones for Pseudomonas
258
Defect in alpha galactosidase will lead to? Accumulate what?
Fabrys(X linked) ceramide trihexoside
259
2 X linked storage diseases
Fabrys and Hunters
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Defect in glucocerebrosidase will lead to? Accumulate what?
Gauchers Disease Accumulate Glucocerebroside
261
Defect in Sphingomyleinase will lead to? Accumulate?
Niemann Pick Disease Sphingomylin
262
Defect in Hexoaminidase A will lead to ? Accumulate?
Tay Sachs GM2 ganglioside
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Defect in Galactocerebrosidase will lead to? Accumulate
Krabbe disease Galactocerebroside
264
Defect in arylsulfatase A will lead to ? Accumulate
Metachromic leukodystrophy Cerebroside sulfate
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Defect in alpha L iduronidase will lead to? Accumulate
Hurlers Syndrome Heparan sulfate and dermatan sulfate (same as Hunters)
266
Defect in iduronate sulfatase will lead to ? Accumulate?
Hunters Syndrome (X Linked) Accumulate Heparan sulfate and dermatan (Same as Hurlers)
267
Fabrys disease presents w?(3)
Pain and peripheral neuropathy angiokeratomas* cardiovascular/renal disease -Alpha galactosidase def
268
Gauchers disease presents w?(3)
Hepatosplenomegaly * aplastic necrosis of femur - (Pancytopenia) * macrophages look like tissue paper(Gaucher cells) -glucocerebrosidase deficiency
269
Niemann Picks Disease presents w?(4)
progressive neurodegeneration Hepatosplenomegaly ** (tay sachs) Cherry spot on macula Foam cells* Spingomyelinase deficiency
270
Tay Sachs disease presents w?(3)
``` progressive neurodegeneration NO hepatosplenomegaly (Nieman PicK)* developmental delay ``` death by 4 defect in hexosamindase A
271
Krabbe Disease presentation?(4) Similar to ?
(Myelin sheath disorder ->) Peripheral neuropathy Developmental delay Optic atrophy defect in galactocerebrosidase Metachromic leukodytrophy
272
Metachromic leukodystrophy presentation? (5) Similar to
``` (myelin sheath) peripheral demyination ataxia dementia progressive vision loss ``` Arylsulfatase A defect Similar to Krabbe Disease
273
Hurlers syndrome Presentation? (4) Same class as?
Developmental delay Gargoylsm (short/coarse facial features) corneal clouding* (not in hurlers) hepatosplenomegaly defect in alpha L iduronidase Hunters(X linked)
274
Hunters syndrome presentation Same class as?
Mild hurler's syndrome + aggressive behavior NO corneal clouding* (Hurlers) Defect in iduronate sulfatase Same class as Hurlers
275
Causal agent of mastitis
Staph aureus
276
Causes of gynecomastia?((4)
Drugs Cirrosis Klinfelters syndrome hyper estrogen periods - old age, puberty
277
Benign epithelial lesions of the breast Proliferative (2) Nonproliferative atypia(3)
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
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Benign breast tumors (3)
fibroadenoma intraductal papilloma phyllodes tumor
279
most common tumor under the age of 35 Characterized by?
Fibroadenoma small mobile firm mass ∆size and tenderness perimenstration
280
Most common cause of breast discharge in a female
intraductal papilloma. Bloody or straw colored, unilateral.
281
Large bulky mass w/ leaf like projections in the breast Risk of CA?
Phollodes tumor small
282
Risk factors for breast CA (3)
``` increased estrogen exposure -null parity, -lack of breast feeding -older 1st child Family history - BRCA Obesity -peripheral ```
283
Common location of breast CA and biggest indicator of prognosis
Upper outer quadrant lymph node involvement
284
Erb2 codes for?
HER 2 receptor an EGF growth factor the is over expressed on some Breast CA Targeted w/ Trastuzunab
285
Most common breast mass in post menopausal women
invasive ductal carcinoma
286
most common breast mass in pre menopausal women
fibrocystic changes
287
Most common form of breast cancer
invasibe ductal carcinoma
288
Signet ring cells (2)
``` lobular breast CA Kruckenberg tumor (GI-> ovary) ```
289
Loss of e cadherin adhesion on chromosome 16 is seen in
Lobular CA - invassive - in-situ
290
always ER + and PR positive breast CA
Lobular CA
291
Risk of Tamoxifen use?(2)
endometrial CA | osteoperosis
292
Blue dome cyst in breast
fibrocytic changes
293
Comedocarcinoma?
Subtype of DCIS w/ caseous necrosis Also - solid, cribiform, papillary, micropapillary
294
Invasive ductal carcinoma characterized by?
firm fibrous, rock hard mass that is immobile, Stellate appearance most common
295
Most common invasive breast tumor to become bilateral?
invaslive lobular ER + and PR + signet cell ring
296
INflammatory changes in a breast means what is going on? See?
Dermal lymph involvement of invasive CA pleu d' orange(dimpling), nipple inversion,
297
Eczematous patch on the areola and breast? Histology
Concern of Pagets disease and underlying DCIS large cells in the epidermis w/ clear ahlo
298
Fleshy, cellular lymphocytic infiltrate of the breast?
Medullary tumor
299
SERMS used in breast CA? (2) Risks?
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
Breast CA drug used post menopause
Aromatase inhibitors | -Anastrozole

USLME Kiss my ass and pray (33 decks)

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