Multisystem

Question 1

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

most likely cause of SOB

Answer 1

alpha 1 antitrypsin deficiency

interalveolar septa destruction

Question 2

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

Answer 2

nucleolus

Question 3

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

Answer 3

2mg/L

240/30 = 8

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

Question 4

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

Answer 4

anterior compartment

lateral compartment

deep posterior compartment

Question 5

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

Answer 5

metaplasia

Question 6

________ 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

Answer 6

classic galactosemia

Question 7

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

due to abnormal ________ from Vitamin C deficiency

Answer 7

Scurvy

proline hydroxylation

Question 8

activation in PLC corresponds with an increase in intracellular

Answer 8

Ca+++

Question 9

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 __________

Answer 9

premature thromboembolic event (MI, Stroke)

methionine

Question 10

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

Answer 10

marfanoid

pyridoxine (Vit B6)

Question 11

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

Answer 11

alkaptonuria

AR

tyrosine to fumarate

Question 12

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

Answer 12

presbyopia

Question 13

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

Answer 13

AFP

duodenal atresia

Question 14

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

Answer 14

microdeletion chrom 22q11.2

defective pharyngeal pouch development

Question 15

_____ falls are a common problem in elderly nursing home patients

Answer 15

medication related

Question 16

_____________ 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

Answer 16

Trisomy 13 or Patau syndrome

Question 17

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

Answer 17

patient handoffs

Question 18

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

Answer 18

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

Question 19

_________ 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

Answer 19

Trisomy 18 or Edwards syndrome

Question 20

medicare is a federal socialized medical insurance program that covers ____________________

Answer 20

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

Question 21

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

Answer 21

AD

Question 22

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

Answer 22

linkage disequilibrium

Question 23

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

Answer 23

social worker

Question 24

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

Answer 24

trailing zeros

Question 25

______ 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

Answer 25

NF-kB

Question 26

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

Answer 26

Tuberous sclerosis hamartomas