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WELL > Rapid Review > Flashcards

Rapid Review Flashcards

1
Q

Lesch-Nyhan Syndrome

A

HGPRT deficiency that is X linked will present with gout, intellectual disability, and self mutilating behavior in a boy

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2
Q

Primary ciliary dyskinesia aka Kartagener syndrome

A

the dyenin arm is defective which affects the cilia it results in situs inversus, chronic ear infections, sinusitis, bronchiestasis, and infertility

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3
Q

osteogenesis impefecta

A

is a type 1 collagen defect that results in blue sclera, multiple fractures, detal problems, and conductive hearing loss

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4
Q

Ehlers-Danlos syndrome is

A

type 5 (V) collagen defect with a type II variant seen in the vacular subtype it presents with elastic skin, hypermobility of joints and increased bleeding tendency

when you think of ehlers danlos think of a elephant skin that lacts collagen (wrinkly elephant)

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5
Q

marfan syndrome

A

is a fibrillin defect that causes arachnodactyly, upward and out lens dislocation, aortic dissection and hyperflexible joints

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6
Q

homocytstinuria

A

is a autosomal recessive disease that causes arachnodactyly, petus deformitis and lens dislocation downward

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7
Q

Mccune albright syndrome is

A

a Gs protein activating mutation that presents with cafre au lait spots, polyostotic fibrous dysplasia, precocious puberty and multiople endocrine abnormalities

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8
Q

cystic fibrosis is

A

a CFTR gene defect on chromsome 7 (F508) that presents with meconium ileus in a neonate, recurrent pulmonary infections, nasal polyps, and pancreatic insufficiency

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9
Q

Muscular dystrophy is

A

an X-linked recessive mutation in dystriophin (duchenne is the most common) and is a frameshift mutation that presents with calf pseudohypertrophy

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10
Q

duchenne musclar dystrophy shows what sign

A

gower sign ( musclar dystrophy)

kid uses arms to stand up from squat

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11
Q

becker muscular dystrophy

A

non frameshift X-linked recessive mutation in dystrophin that is less severe than ducheene and is a slow progressive muscle weakness in boys

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12
Q

patau sydrome

A

trisomy 13 that is an infant with cleft lip/palate microcephaly or holoprosencephaly, polydactyly, and cutis aplasia

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13
Q

edwards syndrome

A

trisomy 18 that presents with microcephaly, rocker bottom feet, clinched hands and structural heart defect

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14
Q

Down sydnrome

A

trisomy 21 with a single palmar crease and intellectural disability

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15
Q

cri-cu-chat syndrome

A

presents with microcephaly , high pitched cry, intellectual disability

congential deletion of the short arm on chromosome 5

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16
Q

wernicke encephalopathy

A

confusion, opthalmoplegiaa, nystagmus, ataxia

with confabulation and memory loss if progresses to korsakoff syndrome

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17
Q

wet beriberi

A

B1 thiamine deficiency that causes a dilated cardiomyopathy, high output failure and edema

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18
Q

vitamin B5 def

A

burning feet syndrome

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19
Q

Vitamin B 3 def (niacin)

A

pellegra: dermatitis, diarrhea, dementia

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20
Q

vitamin C def

A

scurvy (cant hydroxylate proline/lysine for collagen synthesis)

tea and toast diet

symptoms: swollen gums, mucosal bleeding, poor wound healing, petechiae, corckscrew hairs

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21
Q

vitamin D def

A

rickets in chilsren and osteomalacia in adults

bone pain, weakness, bowlegs in children

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22
Q

vitamin K def

A

hemorrhagic disease of the newborn that presents with increase PT and PTT

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23
Q

phenylketoneuria

A

musty body odor, intellectual disability, hypopigmented skin, and eczema

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24
Q

alkaptonuria

A

homogentiaste oxidase deficiency that leads to blusish black connective tissue, ear cartilage, sclerae and ruine that turns black when exposed to air

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25
Q

pompe disease

A

lysosomal a-1,4 glucosidase defiency that causing myopathy (cardio,) excerise intolerance

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26
Q

cori disease

A

debranching enzyme defect with infant hypoglycemia and hepatomegaly

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27
Q

Von gierke disease

A

glucose 6 phosphatase deficency that presents with infant hypoglycemia and hepatomegaly

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28
Q

mcardle disease

A

muscle glycogen phophorylase def that presencts with chronic excercise intolerance, myalgia, fatigue, painful cramps and myoglobunirua

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29
Q

Tay- Sachs disease

A

ganglioside accumulation with NO hepatosplenomagalt and cherry red spots on the macula

30
Q

Niemann Pick disease

A

sphingomyelin accumulation with heptosplenomegaly and cherry red spot on the macula

31
Q

what is a cherry red spot on the macula

A

central retinal artery occulsion

32
Q

gaucher disease

A

glucoverebrosidase (B glucosidase) def that has heptosplenomagly, pancytopenia, osteoposis, and avascular necrosis of the femoal head

(crumpled up paper in bone)

33
Q

familial hypercholesterolemia

A

decrease in the LDL receptor signaling with achilles tendon xanthoma

34
Q

terminal complement deficiences (c5-C9)

A

recurrent neisseria infection

35
Q

bruton disease

A

x linked agammaglobulinemia that is in a male child that has recurrent infections with no mature B cells

36
Q

IgA deficiency

A

shows anaphlaxis after blood transfusion

37
Q

hyper IgE syndrome

A

aka job syndrome that has a an abnormalitiy in neutrophil chemotaxis which leads to high serum IgE, recurrent colds, abcesses, increased eosinophils

38
Q

leukocyte adhesion deficinecy

A

defective LFA-1 integrin that leads to late seperation of the umbilical cord, no pus, and recurrent skin and mucosal bacterial infections

39
Q

chronic granulomatous disease

A

NADPH oxidase deficiency that causes recurrent infections and granulomas with catalase + organisms

40
Q

staph toxic shock syndrome

A

fever, vomiting, diarrhea, desquamating rash following use of nasal pack or tampon

41
Q

scarlet fever

A

sandpaper rash and strawberry tongue

42
Q

kawasaki disease

A

high fever for 5 days, lymphadenopathy and strawberry tongue ( rash on hands and feet)

43
Q

streptococcous bovis is associated with

A

colon cancer and infective endocarditis

44
Q

clostridium botulinum infection: floppy baby syndrome

A

flaccid paralysis in newborns after ingestion of honey

45
Q

clostridioes difficle infection

A

abdominal pain dirrhea, leukocytosis after recent antibiotic use

46
Q

corynebacterium diptheria infection

A

tonsillar pesudomembrane with bulls neck apperance

47
Q

Pott disease

A

vertebral TB that causes back pain, night sweats and fever

48
Q

water-house friderichsen syndrome

A

adrenal insuffiency, fever, DIC

caused my neisseria meningitis

49
Q

klebsiella pneumoniae

A

red currant jelly sputum in patients with alcohol overuse or with diabetes

50
Q

erythema mirgans from Ixodes tick bite (lyme disease)

A

large rash with bulls eye apperance

51
Q

smooth, painless, moist wartlike lesion on genitals

A

condylomata lata

52
Q

neurosyphilis argyll robertson pupil

A

pupil accomodates but does not react to light

53
Q

Jarisch- Herxheimer reaction

A

fever, headache, myalgia after antibiotic treatment for syphillis

54
Q

pasturella multocida

A

cellulitis at inoculation site from a dog or cat bite

55
Q

mycoplasma pneumoniae infection

A

atypical walking pneumoniae with X- ray lookiing WORSE than the patient is

56
Q

what pathologies present with a rash on the palms and soles

A

Cocksackie A, secondary syphillis, and rock mountain spotted fever

57
Q

black eschar on face of patient with diabetic ketoacidosis and or neutropenia

A

mucor or rhizopus fungal infection

58
Q

chorioretinitis, hyrocephalus, and intracranial calcifications (MACROCEPHALY)

A

congeital toxoplasmosis

CMV has microcephaly (MR DICS)

59
Q

serpiginous rash after walking barefoot and puritis

A

hook worm infection

60
Q

child with fever that later develops red rash on face that spreads to the body

A

erythema infectiosum (5th disease) with slapped cheeks (caused by parvo B19)

61
Q

measles

A

fever, cough, conjunctivitis, coryza, and diffuse rash

62
Q

Koplik spots

A

rubeola virus (measles) that are small irregular red spots on the buccal/lingual mucosa with blue white centers

63
Q

bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing

A

aortic regurgitation

64
Q

systolic cresendo decresendo ejection murmur, narrow pulse pressure, palsus parvus et tardus

A

aortic stenosis

65
Q

continuous machiene like heart murmur

A

PDA

close with indomethacin and keep open with PGE analogs

66
Q

chest pain, pericardial effusion, friction rub, and persistent fever after an MI

A

dressler syndrome (autoimmune mediated post MI fibrinous pericarditis)

67
Q

beck triad of cardiac tamponade

A

distant heart sounds, distended neck veins, hypotension

68
Q

osler nodes

A

painful raised red lesions on the pads of finger or toes that is caused by immune complex deposition after infective endocarditis

69
Q

janeway lesions

A

painless erythematous lesions on the palms and soles that are due to septic emboli and microabcesses due to infective endocarditis

70
Q

roth spots

A

retinal hemorrhages with pale centers in infective endocarditis

71
Q

hereditary hemorhhagic telangiectasia (osler-weber- rendu syndrome)

A

telengectasia, recurrent epistaxis, skin discoloration, arteriovenous malformation, gi bleeding, hematuria

AD disorder of blood vessles

WELL (8 decks)

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