Multisystem

Question 1

amitriptyline and diphenhydramine shouldn’t be used together why

Answer 1

because they are both strong Anti Cholinergic (muscarinic) drugs and can cause dry mouth, urinary retention and constipation

Question 2

name two drugs given for migrant headaches

Answer 2

topiramate and amitriptylline

Question 3

four drugs used for the prevention of migrants

Answer 3

propranolol
CCBS
topiramate
amytriptylline

Question 4

why should you not give Zolpidem to older adults for insomnia

Answer 4

it increases the chances of falling and confusion . treat instead with cognitive behavioral therapy

Question 5

what is one of the most important risk factors for falls in the elderly

Answer 5

medication use

Question 6

drug classes most associated with increased risk of falling

Answer 6

Benzos and TCA’s

Question 7

who does Medicare cover

Answer 7

older people over the age of 65 and young people with disabilities. ALS or end stage kidney disease

Question 8

part A of medicare covers what

Answer 8

inpatient hospital visits

Question 9

pat B of medicare covers what

Answer 9

outpatient service and medical devices

Question 10

part c of medicare covers what

Answer 10

optional captivated plan and additional benefits ( vision and dental)

Question 11

part d of medicare covers what

Answer 11

optional prescription plan

Question 12

Holoprosencephaly is associated with what genetics

Answer 12

Patuas syndorme (13) and Sonic hedgehog mutations

Question 13

hypotelorism means

Answer 13

close set eyes

Question 14

prosencephalon becomes telencephalon and diencephalon when

Answer 14

week 5

Question 15

what is an example of developmental field defects

Answer 15

holoprosencephaly

Question 16

define developmental field defect

Answer 16

a singly disturbance in the embryo that results in multiple malformations that disrupt the development of tissues and structures near that region

Question 17

CATCH-22(digeorge)

Answer 17

C- Conotruncal Cardiac problems (TEF)
A-Anormal face (bifid uvula)
T-Thymic hypoplasia
C- Cleft palate
H- Hypocalcemia/hypoparathyroidism

Question 18

gold standard test for Di George

Answer 18

FISH

Question 19

spinocerebellar degeneration and spinal ataxia are seen in

Answer 19

Fredrick Ataxia

Question 20

most enzyme deficiency are what mode of inheritance

Answer 20

AR

Question 21

Rett syndrome inheritance

Answer 21

x linked dominant ( girls get it from dads)

Question 22

what is the presence of different mitochondrial genomes inside a cells called

Answer 22

heteroplasty

Question 23

what is the occurrence of multiple phenotypic manifestations often in different organ systems resulting in a single gene mutation called

Answer 23

pleiotropy

Question 24

small punched out lesions on the head associated with Pataus syndrome are called

Answer 24

cutis aplasia

Question 25

increased rates of what two pathologies are seen in trisomony 21

Answer 25

Hirschsprung and duodenal atresia

Question 26

hCG is decreased in what three settings

Answer 26

Patau's Edward Ectopic pregnancy

Question 27

Findings: severe intellectual disability, rocker- bottom feet, micrognathia (small jaw), low-set Ears, clenched hands with overlapping ngers, prominent occiput, congenital heart disease. Death usually occurs within 1 year of birth.

Answer 27

Edwards syndrome

Question 28

maternal rubella in the first trimester can cause what baby problems

Answer 28

hearing loss cataracte cardiac defects

Question 29

decreased AFP and increased nuchal translucency are associated with what

Answer 29

Downs

Question 30

elevated AFP is associated with

Answer 30

neural tube defects and ventral wall defects

Question 31

myelomeningocele is associated with what trisomony

Answer 31

18

Question 32

AV septal defect (endocardial cushion defect), VSD, ASD | associated with what trisomony

Answer 32

downs

Question 33

Wilms tumor, macroglossia, organomegaly, hemihypertrophy (WT2 mutation)

Answer 33

Beckwith-Wiedemann syndrome

Question 34

what is it called when there is osteonecrosis of the head of the femur in children

Answer 34

Legg-Calve-Perthes disease

Question 35

describe what happens when a bacterial LPS binds to the outer membrane of a Toll like receptor

Answer 35

IkB protein is degraded and the NfkB is able to relate inflammatory cytokines, acute phase reactants, and cell adhesion molecules. This process is self limiting because NFkB stimulates more IkB which rebinds to the free NFkB and stops it

Question 36

Chronic myeloproliferative disorders is associated with what receptors

Answer 36

JAK2 Kinase

Question 37

``` Prolactin, Immunomodulators (eg, cytokines IL-2, IL-6, IFN), GH, G-CSF, Erythropoietin, Thrombopoietin use what receptor ```

Answer 37

JAK 2 Kinase

Question 38

patients with bilateral angiomyolipomas have a high incidence of what disease

Answer 38

Tuberous Sclerosis

Question 39

Hamartomas in CNS and skin; Angio bromas C ; Mitral regurgitation; Ash-leaf spots D ; cardiac Rhabdomyoma;renal Angiomyolipoma

Answer 39

Tuberous Sclerosis

Question 40

Rhabdomyoma is the most often cardiac tumor seen in children and is associated with

Answer 40

Tuberous Sclerosis

Question 41

Affects small (capillary-sized) blood vesselsŽport-wine stain of the face A (nevus ammeus, a non-neoplastic “birthmark” in CN V1/V2 distribution); ipsilateral leptomeningeal angioma

Answer 41

Sturge-Weber

Question 42

recurrent nose bleeds and g.i. bleeds also with hemorrhagic telangiectasia is seen in

Answer 42

Osler Weber Rendu Syndorme

Question 43

autosomal dominant condition that can affect the lungs and the liver

Answer 43

alpha 1 antitrypsin deficiency

Question 44

reddish-pink, PAS + granules of unsecreted alpha 1 antitrypsin in peripheral hepatocytes is seen in

Answer 44

Alpha 1 Antitrypsin Deficiency