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Flashcards in Multisystem Deck (44):
1

amitriptyline and diphenhydramine shouldn't be used together why

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

2

name two drugs given for migrant headaches

topiramate and amitriptylline

3

four drugs used for the prevention of migrants

propranolol
CCBS
topiramate
amytriptylline

4

why should you not give Zolpidem to older adults for insomnia

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

5

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

medication use

6

drug classes most associated with increased risk of falling

Benzos and TCA's

7

who does Medicare cover

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

8

part A of medicare covers what

inpatient hospital visits

9

pat B of medicare covers what

outpatient service and medical devices

10

part c of medicare covers what

optional captivated plan and additional benefits ( vision and dental)

11

part d of medicare covers what

optional prescription plan

12

Holoprosencephaly is associated with what genetics

Patuas syndorme (13) and Sonic hedgehog mutations

13

hypotelorism means

close set eyes

14

prosencephalon becomes telencephalon and diencephalon when

week 5

15

what is an example of developmental field defects

holoprosencephaly

16

define developmental field defect

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

17

CATCH-22(digeorge)

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

18

gold standard test for Di George

FISH

19

spinocerebellar degeneration and spinal ataxia are seen in

Fredrick Ataxia

20

most enzyme deficiency are what mode of inheritance

AR

21

Rett syndrome inheritance

x linked dominant ( girls get it from dads)

22

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

heteroplasty

23

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

pleiotropy

24

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

cutis aplasia

25

increased rates of what two pathologies are seen in trisomony 21

Hirschsprung and duodenal atresia

26

hCG is decreased in what three settings

Patau's
Edward
Ectopic pregnancy

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.

Edwards syndrome

28

maternal rubella in the first trimester can cause what baby problems

hearing loss
cataracte
cardiac defects

29

decreased AFP and increased nuchal translucency are associated with what

Downs

30

elevated AFP is associated with

neural tube defects and ventral wall defects

31

myelomeningocele is associated with what trisomony

18

32

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

downs

33

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

Beckwith-Wiedemann syndrome

34

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

Legg-Calve-Perthes disease

35

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

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

36

Chronic myeloproliferative disorders is associated with what receptors

JAK2 Kinase

37

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

JAK 2 Kinase

38

patients with bilateral angiomyolipomas have a high incidence of what disease

Tuberous Sclerosis

39

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

Tuberous Sclerosis

40

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

Tuberous Sclerosis

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

Sturge-Weber

42

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

Osler Weber Rendu Syndorme

43

autosomal dominant condition that can affect the lungs and the liver

alpha 1 antitrypsin deficiency

44

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

Alpha 1 Antitrypsin Deficiency