USMLE RX Flashcards

1
Q

Wide spaced eyes and epicentral folds, with one fewer crease in palm that expected; eye examination shows white spots on the peripheral iris and extra autosomal chromosome. A/w with duodenal atresia

A

Down syndrome

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2
Q

What autosomal trisomy is a/w holoprosencephaly?

A

patau syndrome; trisomy 13

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3
Q

What autosomal trisomy is a/w ALL?

A

21

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4
Q

_____ is associated with midline facial defects such as cleft lip/palate and with coloboma (missing tissue in the risk, retina, choroid, or optic nerve), and is most commonly seen with trisomy 21?

A

holoprosencephaly

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5
Q

Malignant melanoma, characterized by irregular borders, ulceration, radial and vertical growth, and sun exposed location, originates from?

A

neural crest cells (melanocytes)

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6
Q

elevated AFP levels in amniotic fluid and maternal serum can be a sign of what?

A

neural tube defects such as meningocele and meningomyelocele

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7
Q

What are the 23 (1N, 1C) cells that are formed from secondary spermatocytes after meiosis 2 is completed. They undergo morphologic changes to become mature sperm that include acrosome, head, neck and tail.

A

spermatids

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8
Q

The arytenoid cartilages arise as swellings form what embryological orgin at 32 days of gestation?

A

6th pharyngeal arch

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9
Q

In the absence of mullerian inhibitory factor, the mullerian ducts develop into:

A

the Fallopian tubes, the uterus and the superior proximal portion of the vagina

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10
Q

In the presence of MIF, which is produced and secreted by the Sertoli cells, the mullerian ducts degenerate but may remain as vestigial remnant called

A

the appendix testes

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11
Q

The mesonephric ducts develop into the male internal genital structures, with the exception of the prostate from the urogenital sinus. Remember what structures?

A

BEEDS: bladder trigone, epididymis, ejaculatory duct, ductus deferens, seminal vesicles

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12
Q

Mediastinal deviation can occur with a diaphragmatic hernia, with mediastinal deviation in what direction from of the herniation,almost always the left hemithorax

A

away from the side of the herniation

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13
Q

Failure of the diaphragm to properly form and close leads to

A

congenital diaphragmatic hernia

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14
Q

true/false: Herniation of the bowel into the thorax may cause a shift in mediastinal structures to the contralateral hemithorax, which can manifest as heart sounds best appreciated in the right hemithorax.

A

true

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15
Q

developing diaphragm develops from

A

septum transversum, pleuroperitoneal folds, body wall, and dorsal mesentery of the esophagus

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16
Q

Failure of _____ to form leads to diaphragmatic hernias, with bowel sounds in lung zones

A

pleuroperitoneal folds (membrane)

17
Q

Turner syndrome patients have coarctation of the aorta, a congenital narrowing of the descending aorta, usually just distal to the origin of the left subclavian artery and opposite to the dual arteriosus. what kind of coarctation is this?

A

juxtaductal coarctation

18
Q

what can result in a small left arm due to compromised blood flow if the left subclavian artery is involved

A

juxtaductal coarctation

19
Q

Beta hCG has a distinctive alpha subunit; which it shares with what other hormones?

A

TSH, LH, and FSH

20
Q

acute onset abdominal pain with/without rebound tenderness. what to include in your differential?

A

ectopic pregnancy

21
Q

What can result in deafness, PDA, pulmonary artery stenosis,cataracts and microcephaly?

A

congenital rubella infection

22
Q

Bone deformity of the nasal bridge or saddle nose, is seen in what?

A

congenitally acquired syphilis

23
Q

What condition can impinge on the crossing fibers of the spinothalamic tract, resulting in bilateral loss of pain and temperature sensation in the upper extremities?

A

syringomyelia

24
Q

Inability to pass meconium and the finding of an empty rectum?

A

hirschprung disease or congenital megacolon

25
Q

failure of neural crest cells to migrate into the bowel wall during embryogenesis and is characterized by the absence of ganglion cells in the large bowel , typically in the rectum and the adjacent segment of the distal colon that is immediately proximal to the rectum.

A

Hirschsprung disease or congenital megacolon

26
Q

Folic acid is a coenzyme for 1 carbon transfers, decreases what in the fetus when taken in adequate amounts by the mother ?

A

neural tube defects ( ; exerts influence on neural folds in developing embryo)

27
Q

elevating the palate and pharynx use what embryological structures?

A

branchial arches 1,3,4

28
Q

What embryologic origin gives rise to the superior parathyroid glands and ultimobranchial body, which forms the parafollicular C cells (adjacent to the thyroid follies)

A

4th pharyngeal pouch

29
Q

Meckel diverticulum is the MC congenital anomaly of the GI tract, it is a blind pouch protruding from the ileum, it is derived from ?

A

midgut

30
Q

What aortic arch gives rise to the common carotids as well as the proximal internal carotid arteries

A

third

31
Q

PDA is located in what arch?

A

sixth aortic arch

32
Q

Bell’s palsy is a lesion of CN 7, and affects the muscles of facial expression. What is the embryological origin of this nerve?

A

2nd branchial arch

33
Q

large cranium, small jaw, low set ears, and overlapping fingers

A

trisomy 18

34
Q

What teratogen is a/w fetal thrombocytopenia and jaundice?

A

chlorothiazide

35
Q

What teratogen is a/w permanent tooth staining, enamel hypoplasia, and diminished growth of long bones

A

doxycycline

36
Q

What teratogen is a/w fetal cardial abnromalities and malformations of the great vessels

A

lithium

37
Q

2 high risk consequences of coarctation of the aorta are?

A

bacterial endocarditis and cerebral hemorrhage