• Shuffle
    Toggle On
    Toggle Off
  • Alphabetize
    Toggle On
    Toggle Off
  • Front First
    Toggle On
    Toggle Off
  • Both Sides
    Toggle On
    Toggle Off
  • Read
    Toggle On
    Toggle Off
Reading...
Front

Card Range To Study

through

image

Play button

image

Play button

image

Progress

1/19

Click to flip

Use LEFT and RIGHT arrow keys to navigate between flashcards;

Use UP and DOWN arrow keys to flip the card;

H to show hint;

A reads text to speech;

19 Cards in this Set

  • Front
  • Back
hemophilia A
lack of factor VIII
Hemophilia B / christmas diz
lack of factor IX
glucose 6 phosphate dehydrogenase
inability to eradicate radical o2 species espeicially in RBC, while other tissues remain helathy
hemolysis occurs wiht exposure to excess radicals such as infxn, drugs (sulfa drugs, primaquine)
Fragile X syndrome
structural defect in chromo X
clinical:
Mental retardation
large ears and jaw
in males, bilateral macroorchidism
505 of females have retartdation too
****triple reapeat disorder of CGG that demonstrates anticipation***
increase repeats with each generation> increase the severety of symptoms
FAbry dix
type of sphinogolipidoses
decrease a-galactosidase A
characterized by angiokeratomas (wart like growths with telangiectasias) and renal failrure.
Lesch nyhan syndrome
def. of hypoxanthine guanine phosphoribosyltransferase (HGPRT) in teh salvage pathway of purines reulting in incrsease metabolims of purines to produce excessive production of uric acid
self mutilation
Lesch nyhan syndrome
def. of hypoxanthine guanine phosphoribosyltransferase (HGPRT) in teh salvage pathway of purines reulting in incrsease metabolims of purines to produce excessive production of uric acid
self mutilation
duchene muscular dystrophy
lack of dystrophin
very hihg creatine kinase and by proximal muscle weakness (shoulder girdle and hip girdle are affeceted most 1st) and eventual muscle dystrophy
positive gowers sign
very short life span ( death in early 20s)
wheelchair bound in early teens
duchene muscular dystrophy
lack of dystrophin
very hihg creatine kinase and by proximal muscle weakness (shoulder girdle and hip girdle are affeceted most 1st) and eventual muscle dystrophy
positive gowers sign
very short life span ( death in early 20s)
wheelchair bound in early teens
Becker mucle dystrophy
less severe than duchene
decresed dystrophin
Becker mucle dystrophy
less severe than duchene
decresed dystrophin
bruotns agammaglobulineam
low of absent mature B cells
recurrent bacterial infx
bruotns agammaglobulineam
low of absent mature B cells
recurrent bacterial infx
Wiskott Aldrich syndrome
triad: otitis media, eczema, thrombocytopenia (low numbers and smaller size (low MPV)
associated with IGM dysfunction
Wiskott Aldrich syndrome
triad: otitis media, eczema, thrombocytopenia (low numbers and smaller size (low MPV)
associated with IGM dysfunction
chronic granulomatous dis
granulmos form becasue neutophils and macrophages are unable to eradicate the foreign subtaance
multiple granuloma formation
type of type IV hps
chronic granulomatous dis
granulmos form becasue neutophils and macrophages are unable to eradicate the foreign subtaance
multiple granuloma formation
type of type IV hps
Hunters dis
mucopollysaccharides
mental retardation and normal corneas
gargoyle like facies
Hunters dis
mucopollysaccharides
mental retardation and normal corneas
gargoyle like facies