Multisystem Flashcards

1
Q

47 yr old male patient, SOB, elevated liver enzymes, liver biopsy stain with PAS =

most likely cause of SOB

A

alpha 1 antitrypsin deficiency

interalveolar septa destruction

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2
Q

the ______ functions as the primary site of ribsome synthesis and assembly. All ribosomal RNA except ____ rRNA is transcribed here

A

nucleolus

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3
Q

first dose of drug is 240mg, Vd is 30L, t1/2 is 4 hours. What is the drug concentration at 8 hours

A

2mg/L

240/30 = 8

8 to 4, then 4 to 2 (2 half lives)

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4
Q

the deep peroneal nerve and the anterior tibial artery and veins are located in the

the superficial peroneal nerve is located in the

the posterior tibial artery and veins, the tibial nerve, and the peroneal artery and veins are located in the

A

anterior compartment

lateral compartment

deep posterior compartment

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5
Q

pathologic finding in Barrett esophagus and in the trachea of chronic smokers

A

metaplasia

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6
Q

________ is the most common and most severe AR galactosemic disorders. It leads to a complete enzymatic absence of galactose 1 phosphate uridyl transferase. Newborns present with jaundice, vomiting, hepatomegaly

A

classic galactosemia

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7
Q

alcoholic with bleeding, poor wound healing, and periodontal disease =

due to abnormal ________ from Vitamin C deficiency

A

Scurvy

proline hydroxylation

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8
Q

activation in PLC corresponds with an increase in intracellular

A

Ca+++

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9
Q

Homocystinuria is most commonly caused by a defect in cystathionine synthase, resulting in the inability to form cystein from homocysteine. Cysteine becomes essential in affected patients, who classically present at a young age with hypercoaguability, ____________, ectopia lens, and intellectual disability. Typically homocysteine build up leads to elevated __________

A

premature thromboembolic event (MI, Stroke)

methionine

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10
Q

affected individuals of homocysteinuria present with _________ habitus, ectopia lentis, and developmental delay. Many patients respond dramatically to _____ supplementation

A

marfanoid

pyridoxine (Vit B6)

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11
Q

black urine that stands over night =

inheritence =

due to a lack homogentisic acid dioxygenase that prevents the metabolism of ________ to __________

also present with blue black pigmentation on face adnd ochronotic arthropathy

A

alkaptonuria

AR

tyrosine to fumarate

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12
Q

age related decrease synthesis and increased breakdown of collagen and elastin contribute to the development of skin wrinkles and _______ or near sightedness

A

presbyopia

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13
Q

Down syndrome is associated with decrease maternal serum ____ and increased nuchal translucency. _______ is the most common GI complication

A

AFP

duodenal atresia

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14
Q

DiGeorge Syndrome can present with orbital hypertelorism, a submucous cleft palate, a bifid uvula, and TOF. The mechanism behind this disease is

A

microdeletion chrom 22q11.2

defective pharyngeal pouch development

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15
Q

_____ falls are a common problem in elderly nursing home patients

A

medication related

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16
Q

_____________ or ______ syndrome presents with a small for gestational age infant with microcephaly, punched out lesion on the scalp, microphthalmia, polydactyly, cardiac defects, an umbilical hernia and rocker bottom feet

A

Trisomy 13 or Patau syndrome

17
Q

communication errors between physicians during -____ are a major cause of medical errors

A

patient handoffs

18
Q

Holoprosencephaly is a ____________ characterized by a spectrum of fetal anomalies due to incomplete division of the forebrain (prosencephalon)

A

field defect (multiple malformations that occur secondary to an embryonic disturbance in an adjoining cell group)

19
Q

_________ or _______ presents in an infant with micrognathia, heart defects, prominent occiput, low set ears, clenched hands, renal defects, limited hip abduction, and rocker bottom feet

A

Trisomy 18 or Edwards syndrome

20
Q

medicare is a federal socialized medical insurance program that covers ____________________

A

individuals age 65 or older who have work history and younger individuals with disabilities

21
Q

Achondroplasia (dwarfism) is an _________ disorder that results in a GOF mutation in the FGFR3 gene

A

AD

22
Q

two allele loci are said to be in ________ when a pair of alleles are inherited together in the same gamete more often or less often than would be expected given random pairing. This most often occurs when the genes are in close physical proximity on the same chromosome

A

linkage disequilibrium

23
Q

A ________ can be instrumental in assessing whether the patient has adequate family or caregiver support at home

A

social worker

24
Q

avoiding the use of unsafe abbreviations and ________ in medication orders can help reduce the incidence of medication errors

A

trailing zeros

25
Q

______ is normally present in the cytoplasm in a latent, inactive state bound to its inhibitor protein lkB. Extracellular substances such as LPS can initiate a cascade that results in the destruction of lkB and translocation of this TF to the nucleus

A

NF-kB

26
Q

renal angiomyolipoma is a benign tumor composed of blood vessels, smooth muscle, and fat. Bilateral tumors are associated with _________, an autosomal dominant disorder, along with subependymal ________ and ash leaf patches

A

Tuberous sclerosis

hamartomas