Questions Flashcards by Annie Chow

cells that are rich in smooth ER

steroid- producing cells of the adrenal cortex, and hepatocytes

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Baby heart defects with maternal alcohol use

ToF, VSD, ASD, PDA

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Baby heart defects in pregestational diabetes

Transposition of the great vessels

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heart defects seen in Turner

CoA, bicuspid/ other aortic valve defects

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heart defects seen in trisomy 21

endocardial cushion defects

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heart defects seen in rubella

PDA, pulmonary artery stenosis

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heart defects seen in DiGeorge

tetralogy of Fallot, truncus arteriosus

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crescendo decrescendo systolic murmur in the 2nd to 3rd right interspace close to the sternum

Aortic stenosis

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early diastolic decrescendo murmur heard best along the left sternal border with BP 160/55

Aortic regurgitation

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late diastolic decreases murmur heart best at lower left sternal border

tricuspid stenosis

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holosystolic murmur at apex, radiates to left axilla

mitral regurgitation

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late systolic murmur usually preceded by mid- systolic click

mitral prolapse

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crescendo- decrescendo systolic murmur best heard at 2nd to 3rd interspaces close to the sternum

pulmonic stenosis

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holosystolic murmur best heart along the left lower sternal border

tricuspid regurgitation or ventricular septal defect

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rumbling late diastolic murmur with opening snap, loudest at the 5th interspace, midaxillary line

mitral stenosis

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continuous machine- like murmur

PDA

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female development

mesonephric duct degenerates and paramesonephric duct develops into internal female structures

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paramesonephric ducts (mullerian duct)

fallopian tubes, uterus, upper vagina (lower portion from urogenital sinus).

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Mullerian agenesis

may present as primary amenorrhea (due to a lack of uterine development) in females ith fully developed secondary sexual characteristics (functional ovaries)

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Male development

SRY gene on Y chromosome- produces testis- determining factor- testes development. Sertoli cells secrete mullerian inhibitory factor (MIF). MIF suppresses development of paramesonephric ducts. Leydig cells secrete androgens that stimulate development of mesonephric ducts

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Mesonephric (wolffian duct)

develops into male internal structures (except prostate) -SEED:
Seminal vesicles
epididymis
ejaculatory duct
ductus deferens
in females the Gartner duct is a remnant of the mesonephric duct. The mesonephric duct degenerates in the first trimester in the absence of testosterone

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Urogenital sinus

develops into sinovaginal bulbs, the lower portion of the vagina. Defect leads to agenesis or atresia

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genital tubercle

estrogen- glans clitoris

DHT- glans penis

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genital tubercle

estrogen- vestibular bulbs

DHT- corpus cavernosum, spongiosum

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urogenital sinus

estrogen- greater vestibular bulbs (of Bartholin) | DHT- Bulbourethral glands (of Cowper)

urogenital sinus

estrogen- urethral and paraurethral glands (of Skene) | DHT- Prostrate gland

urogenital folds

estrogen- labia minora | DHT- gentral shaft of penis (penile urethra)

labioscrotal swelling

estrogen- labia majora | DHT- scrotum

ectocervix cell type

non-keratinized squamous epithelium

endocervix cell type

mucus- secreting simple columnar epithelium

fallopian tube cell type

ciliated simple columnar epithelium

estrogen- producing ovarian tumor leading to precocious puberty or post- menopausal bleed

granulosa cell tumor, thecoma

androgen- producing tumor leading to virilization

Sertoli- Leydig tumor

Contains fallopian tube-like epithelium

serous tumor

Contains urinary tract- like epithelium

Brenner tumor

historically associated with pseudomyxoma peritonei

mucinous tumor (appendiceal etiology is more likely)

Schiller- Duval bodies

yolk- sac tumor

Call- Exner bodies

Granulosa cell tumor

Psammomma body

Serous tumor

Fried egg cells

Dysgerminoma (ovary), seminoma (testicle)

AFP

yolk sac tumor

hCG

choriocarcinoma, dysgerminoma

LDH

dysgerminoma

female equivalent to seminoma

dysgerminoma (but this is rarer than seminoma

Sx associated with blocking the mesocortical pathway

increase negative symptoms of schizophrenia

Sx associated with blocking the mesolimbic pathway

relieve positive symptoms of schizophrenia

Sx associated with blocking the nigrostriatal pathway

Symptoms associated with blocking the tuberoinfundibular pathway

increased prolactin secretion leading to hypogonadism

Autosomal dominant

- autosomal dominant polycystic kidney disease - familial adenomatous polyposis - familial hypercholesterolemia - hereditary spherocytosis - Huntington - Marfan - VHL disease - Neurofibromatosis type I (von Recklinghausen)

X-linked recessive disorders: Oblivious Female Will Give Her Boys Her X-linked Disorders

``` Oblivious Female Will Give Her Boys Her X-linked Disorders Ocular albinism Fabry disease Wiskott- Aldrich syndrome G6PD Hunter Bruton agammaglobulinemia Hemophilia A and B Lesch- Nyhan Syndrome Duchenne muscular dystrophy ```

Autosomal recessive diseases

``` Cystic fibrosis glycogen storage diseases infantile polycystic kidney disease hemochromatosis mucopolysaccharidoses (Except Hunter) Phenylketonuria (PKU) Sickle cell anemia Thalassemias ```

Cyclin-cdk complex going from G1 to S phase progression

cyclin D+cdk4 | cyclin E+cdk2

cyclin-cdk complex that mediates G2 to M phase progression

cyclin A + cdk2`

unpasteurized milk, eating animal plasma

Q FEVER, brucella

which murmurs are alright in the absence of evidence of disease?

split S1, split S2 on inspiration, S3 heart sound in patient

globus pallidus interna effect on movement

inhibits movement

subthalamic nucleus effect on movement

inhibits movement (lesion can lead to hemiballismus contralaterally, lesion deliberately to help with PD)

hemiballismus

STN lesion contralaterally (lacunar stroke)

subtantia nigra pars compacta

facilitates movement (this region is gone in PD)

Brown- sequard syndrome

ipsilateral UMN signs below the lesion ipsilateral dorsal column loss of information below the lesion contralateral pain and temperature loss 2-3 segments below the lesion ipsilateral pain and temp loss at the level of the lesion LMN signs below the lesion, ipsilaterally

ALS

combined UMN and LMN defects without sensory deficit

Multiple sclerosis- Charcot triad

scanning speech, intention tremor, nystagmus also bowel bladder incontinence internuclear ophthalmoplegia optic neuritis female who is 20-30yo

lysosomal storage disease associated with accumulation of GM2 ganglioside

Tay- Sachs disease

lysosomal disease associated with renal failure

Fabry disease

boot-shaped heart

RVH, ToF

cafe au lait spots

neurofibromatosis type I | McCune-Albright syndrome

Tuft of hair on lower back

spina bifida

Tuberous sclerosis

seizures intellectual disability angiofibromas