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med > foundations path wks I & II > Flashcards

foundations path wks I & II Flashcards

1
Q

ehlers danlos

A

CT disorder: struc/prod/processing of collagen.
chronic pain, super flexible joints/skin, tendency to bleed/bruise
assoc w keloid formation

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2
Q

keloids

A

overgrowth of granulation tissue (collagen III) at site of healed skin injury

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3
Q

scurvy

A

vitamin c deficiency > collagen crosslinking issues

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4
Q

osteogenesis imperfecta

A

type I collagen deficiency, brittle bones prone to fractures, blue sclera, hearing deficiency (ossicles abnormal)

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5
Q

Marfan syndrome

A 
fibrillin mutation (covers elastin)
autodominant
affect skel, heart, eyes
long limbs/digits, dissecting aas, floppy valves
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6
Q

duchenne muscular dystrophy

A

dystrophin protein (struc component of muscles) deficiency
x linked genetic disorder: frameshift mut
muscle wasting
common sign “gower’s sign” - have to walk hands up own body to stand

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7
Q

hyaluronidase (cleaves hyaluronic acid)

A

hyaluronic acid = glycosaminoglycan making up ground substance of CT(holding cells together)
virulence factor in staph. aureus, strep pyogenes
in acrosome rxn in sperm to digest corona radiata

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8
Q

pemphigus vulgaris

A

desmosome jxn disruption
blistering disease
type II hypersensitivity rxn: autoimmune disease (antibodies attack desmosome jxn prots)

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9
Q

Kartagener/Primary ciliary dyskinesia/immotile ciliary syndrome

A

defects in cilia action
auto recessive
defects in: respiratory tract, middle ear, fallopian tube, sperm flagella > frequent infection
sinusitis, bronchitis, pneumonia, otitis media
situs inversus = organs on opposite sides

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10
Q

DNA del in barrier sequence of beta globin

A

barrier sequence = stops heterochromatin (tranx inactive) spread to euchromatin. if lost, beta globin gene inaccessible to tranx/transl.
result: severe anemia

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11
Q

barrett’s esophagus as a

metaplasia example

A

glandular metaplasia: squamous > glandular cells
body resp to gastroesophageal reflux disease
(goblet cells produced in resp ep)

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12
Q

barrett’s esophagus carcinoma

A

adenocarcinoma = epithelial tissue with glandular origin (subcategory of carcinoma- neoplasia of epithelial tissue)

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13
Q

teratoma

A

tumor w tissue/organ components resembling normal derivatives of more than one embryonic germ layer

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14
Q

blood testes barrier damage

A

sperm enter blood, antibodies bind antigenic sites on sperm, can hinder sperm ability to fertilize egg/motility

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15
Q

klienfelter

A

47xxy
testicular atrophy, eunuchoid body shape, dev delay
barr body x chromo present
dysgenesis of seminiferous tubules causes decr T, incr E (incr FSH, LH)

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16
Q

turner

A 
45xo
ovarian dysgenesis, webbed neck
decr E
primary cause of primary amenorrhea
no barr body
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17
Q

XYY

A

pheno normal
paternal meiosis
assoc w learning disability, autism

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18
Q

true hermaphroditism

A

46xx or 47xxy
aka ovotesticular disorder of sex dev
both ovarian and testicular tissue present = ambiguous genitalia

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19
Q

5alpha-reductase deficiency

converts T to DHT

A

auto recessive, males only
ambiguous genitalia til puberty, then: high T = incr growth of external genitalia. T/E levels normal, internal genitals normal

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20
Q

androgen insensitivity syndrome

A

normal appearance female except: scant genital hair, rudimentary vagina, no uterus/fallopian tubes
dev of testes (often in labia majora, need sx removal to prevent cancerous growth)
high T/E levels

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21
Q

hydatiform mole

A

cystic swelling of chorionic villi/prolif of chorionic epith tropho
cysts, hyperthyroidism
result of duplicated sperm DNA

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22
Q

partial hydatiform mole

A 
69xxx, 69xxy, 69xyy
slightly elevated hcg
two sperm, one egg
vaginal bleeding & pain
can visualize fetal parts
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23
Q

complete hydatiform mole

A 
46xx, 46xy
high hcg
anuclear egg + sperm (duplicates its DNA)
risk of malignant trophoblastic disease
enlarged uterus, hyperthyroidism
honeycomb/snowstorm/grapes on ultrasound
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24
Q

abrutio placentae

A

premature separation of placenta before delivery
causes: trauma, smoking, HTN, cocaine
abrupt painful bleeding, DIC, maternal shock, fetal distress (life threat to both)

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25
Q

placenta previa

A

placenta covers internal os
causes: multiparity, prior C section
painless 3rd trimester bleed

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26
Q

placenta accreta/increta/percreta

A

defective attachment of placenta to uterus

  1. accreta: attaches to myometrium w/o penetration
  2. increta: penetrates into myomet
  3. percreta: perforates through myomet and invades uterine wall
    causes: prior Csection, inflamm, placenta previa
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27
Q

ectopic pregnancy sites

A

most common: ampulla of fallopian
other regions: pouch of douglas, ovary
s/s: pain, w or w/o bleeding

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28
Q

polyhydramnios

A

too much amniotic fluid
assoc w fetal malformations: esophageal/duodenal atresia, anencephaly > inability to swallow fluid
assoc w mat diabetes, fetal anemia, multiple gestations

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29
Q

oligohydramnios

A

too little amniotic fluid
placental insufficiency, bilateral renal agenesis, inability to excrete urine (males)
can cause potter seq (pulmonary hypoplasia, others)

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30
Q

vasa previa

A

vessels over internal os
can result in exsanguination/death of fetus
emergency c section

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31
Q

trisomy 13/Patau syndrome

A

severe intellectual disability, micropthalmia, microcephaly

cleft lip/palate, polydactyly, congenital heart disease (die w/in 1 yr)

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32
Q

trisomy 18/edwards

A

severe intellectual disability, low ears, clenched hands w overlapping fingers, congenital heart disease (die w/in 1 yr)
low a fetoprotein, hcg

33
Q

trisomy 21/downs

A

intellectual disability, flat face, palmar crease, co-occurs w hirshprung=megacolon (RET loss fxn)
congenital heart disease, early onset alzheimer
95% cases= maternal nondys
4% = robertsonian
low afetoprot, high hcg

34
Q

megacolon/hirschsprungs

A

GI autonomic ganglion cells cant fxn (neural crest cell issue)
baby fails to pass 1st stool meconium
RET loss of fxn

35
Q

RET proto-oncogene

A

gain of fxn = medullary thyroid carcinoma (self sufficiency in growth signals)
loss of fxn = hirschsprungs/megacolon

36
Q

lesch-nyhan syndrome/juvenile gout/HGPRT enz deficiency

A 
hgprt enzyme deficiency (in purine breakdown pw) 
causes excessive uric acid prod, de novo purine synth
x link recessive
HGPRT pnemonic:
Hyperuricemia
Gout
Pissed off (aggression/self mutilation)
Retardation
dysTonia
37
Q

sickle cell disease mutation

A

missense: nucleotide substitution > new aa

glu > val

38
Q

xeroderma pigmentosum

A

defective nucleotide excision repair (takes out pyrimidine dimers from UV)

39
Q

Hereditary non-polyposis colorectal cancer (HNPCC)/lynch syndrome

A

auto dom mutation of MSH2/MLH1: mismatch repair enzymes

40
Q

ataxia telangiectasia

A

mut in enz that repairs double strand breaks
neurodegenerative, genetic
poor coordination & small dilated bvs
incr risk of lymphoma/leukemia

41
Q

fanconi anemia

A

result of mut in prots responsible for DNA repair
most dev cancer, commonly: AML (acute myelogenous leukemia)
90% develop marrow failure (inability to dev blood cells) by age 40

42
Q

AML (acute myelogenous leukemia)

A
  1. fanconi anemia (mut in DNA repair prots > marrow failure by age 40)
  2. translocation(15:17)
  3. Downs syndrome 10-18x more likely to get AML
43
Q

menkes disease

A

x linked recessive
impaired copper abs/transp
brittle, kinky hair, growth retardation, hypotonia

44
Q

prader willi

chromo 15 mut/del

A

Praderwilli = Paternal deletion, maternal imprint

hyperphagia/obesity, intellectual disability, hypogonadism/hypotonia

45
Q

angelman “happy puppet”

chromo 15 mut/del

A

“happy puppet”
angelMan = Maternal del, paternal imprint
seizures, inappropriate laughing, severe intelectual disability

46
Q

Li Fraumeni/SBLA cancer syndrome

A

p53 mutation > multiple malignancies early in life
SLBA = sarcoma, breast, leuk, adrenal gland
auto dom

47
Q

familial adenomatous polyposis (FAP)

A 
colon covered w polyps post puberty, progresses to cancer unless colon resected
APC gene (chromo 5) auto dom
48
Q

multiple endocrine neoplasias (MEN)

A

MEN genes: familial endocrine gland tumors (pancreas, thyroid, pituitary, parathyroid, adrenal medulla)
also RET gene loss of fxn > megacolon (a MEN neoplasia)
auto dom

49
Q

von hippel-lidau disease

A 
VHL gene (tumor suppressor)
auto dom (chromo 3)
many tumors, both malig/benign
50
Q

cri-du-chat

A

high pitched cry/mew, severe intellectual disability, cardiac abnormalities
chromo 5

51
Q

digeorge syndrome

A 
thymic, parathyroid, cardiac defects
chromo 22 del: aberrant dev of 3rd/4th brachial pouches > thymic aplasia > T-cell deficiency, hypocalcemia
"CATCH 22"
Cleft palate
Abnormal facies
Thymic aplasia/ Tcell def
Cardiac defect
Hypocalcemia
52
Q

beriberi

A

beriberi = vit b1 deficiency (alcoholics run out of b1)

53
Q

wernicke’s encephalopathy

wernicke-kosakoff syndrome

A 
wernicke's = lesions on CNS after exhaustions of vit b1 reserves (other b vits too) s/s: confusion, ataxia
kosakoff = other s/s: memory loss, blackout, apathy
54
Q

chronic alcoholism and hypoglycemia, fatty liver mechanisms

A

alc > incr NADH in liver > body thinks high energy state, diverts away from gluconeogenesis > hypoglycemia
use fat as fuel > hyperlipidemia, fatty liver

55
Q

iron deficiency anemia ETC

A

decr Fe for Fe-S centers and cytochromes = decr production of E

56
Q

Leber’s disease/leber hereditary optic neuropathy (LHON)

A

decr mito capacity for oxphos
bilateral loss of central vision (neuro retinal degeneration, optic nerve damage)
sudden onset blindness in early adulthood
need high % mito DNA w mutation to show s/s (severity varies)

57
Q

leigh’s disease/juvenile subacute necrotizing encephalopathy

A

decr mito capacity for oxphos
neurometabolic disorder
s/s w/in 1st year of life (seizure, lactic acidosis, ragged red fibers in musc), death by 5-7 yrs

58
Q

CN cyanide/CO carbon monoxide ETC

A

inhibit e transfer from subunit IV to o2

also CO binds rbcs

59
Q

dinitrophenol ETC

A

uncoupler (faciliates p+ transfer across inner mito mem)

weight loss drug, deaths from overheating/lack of E

60
Q

valinomycin ETC

A

uncoupler: K+ ionophore activated

61
Q

oligomycin ETC

A

inhibits p+ flow through ATP synthase

62
Q

fomepizole (alc)

A

antidote for methanol/ethylene glycol poisoning

inhibits alc dehydrogenase

63
Q

disulfiram/some cephalosporins (antibac)

A

contributes to hangover s/s, alc intolerance

inhib acetaldehyde dehydrogenase (last step in alc metab pw)

64
Q

pyruvate dehydrogenase complex deficiency

A

buildup of pyruvate > shunted to lactate, alanine

lactic acidosis, incr alanine

65
Q

rotenone, amytal ETC

A

inhib complex I ETC

66
Q

antimycin ETC

A

inhib complex II

67
Q

creatine kinase, troponin in blood test

A

elevated = irreversible cardiac damage, MI

68
Q

ALT (alanine aminotransferase)

AST (aspartate aminotransferase)

A

elevated = irreversible liver damage

69
Q

amylase, lipase in blood test

A 
elevated = pancreatic damage
amylase = salivary inflammation also
70
Q

coagulative necrosis

A 
hypoxic injury (except in brain = liquefactive)
tissue = pale, firm, hyperemia (vascular dilation) surrounding white areas
dry gangrene = coagulative subcategory
71
Q

liquefactive necrosis

A 
assoc w bacterial/fungal infection
(wet gangrene also!!)
rate of cell destruction dominates (enz digestion)
yellow creamy absesses, pus
hypoxic CNS necrosis = liquefactive
72
Q

gangrenous necrosis: wet vs dry

A 
wet = liquefactive (bac infection)
dry = coagulative (hypoxia)
73
Q

caseous necrosis

A

TB infection

white, cheesy

74
Q

enzymatic/fat necrosis

A

fat destruction (typically pancreatic lipase released)
saponification
dystrophic calcification - if necrotic debris are not destroyed, become calcified

75
Q

fibrinoid necrosis

A

bvs in immune rxn: immune complexes deposited in walls of arteries (type III hs rxn)
pink, amorphous appearance

76
Q

graft vs host disease

A

graft marrow for immune compromised pts: marrow makes cells that recog host as foreign , attack host

77
Q

meckel’s diverticulum

A

remnant of vitelline duct
2’’ long, 2’ from ileocecal valve, 2% pop
congenital anomaly in GI (most common!)

78
Q

atheroma

A

accumulation of degenerative material in the tunica intima (macros, debris, lipids: chol, FAs, Ca2+, fibrous CT)
response to continuous injury

79
Q

rheumatic fever

s pyogenes

A 
JONES: 'john travolta in saturday night rheumatic fever'
joint pain
carditis
nodules (subqt)
erythema 
syndenham chorea

med (3 decks)

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