Questions Flashcards
cells that are rich in smooth ER
steroid- producing cells of the adrenal cortex, and hepatocytes
Baby heart defects with maternal alcohol use
ToF, VSD, ASD, PDA
Baby heart defects in pregestational diabetes
Transposition of the great vessels
heart defects seen in Turner
CoA, bicuspid/ other aortic valve defects
heart defects seen in trisomy 21
endocardial cushion defects
heart defects seen in rubella
PDA, pulmonary artery stenosis
heart defects seen in DiGeorge
tetralogy of Fallot, truncus arteriosus
crescendo decrescendo systolic murmur in the 2nd to 3rd right interspace close to the sternum
Aortic stenosis
early diastolic decrescendo murmur heard best along the left sternal border with BP 160/55
Aortic regurgitation
late diastolic decreases murmur heart best at lower left sternal border
tricuspid stenosis
holosystolic murmur at apex, radiates to left axilla
mitral regurgitation
late systolic murmur usually preceded by mid- systolic click
mitral prolapse
crescendo- decrescendo systolic murmur best heard at 2nd to 3rd interspaces close to the sternum
pulmonic stenosis
holosystolic murmur best heart along the left lower sternal border
tricuspid regurgitation or ventricular septal defect
rumbling late diastolic murmur with opening snap, loudest at the 5th interspace, midaxillary line
mitral stenosis
continuous machine- like murmur
PDA
female development
mesonephric duct degenerates and paramesonephric duct develops into internal female structures
paramesonephric ducts (mullerian duct)
fallopian tubes, uterus, upper vagina (lower portion from urogenital sinus).
Mullerian agenesis
may present as primary amenorrhea (due to a lack of uterine development) in females ith fully developed secondary sexual characteristics (functional ovaries)
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
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
Urogenital sinus
develops into sinovaginal bulbs, the lower portion of the vagina. Defect leads to agenesis or atresia
genital tubercle
estrogen- glans clitoris
DHT- glans penis
genital tubercle
estrogen- vestibular bulbs
DHT- corpus cavernosum, spongiosum
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
PD
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
