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56 Cards in this Set
- Front
- Back
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What are some clinical findings in cystic fibrosis?
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meconium ileus
viscous mucus resp infections (pseudomonas) chronic pancreatitis cholelithiasis steatorrhea, malnutrition |
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Diagnosis of Cystic fibrosis?
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Cl sweat test
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What are the signs of PKU?
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Mental retardation
musty odor eczema lighter skin |
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What is the path in alpha-1 antitrypsin deficiency?
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liver makes it but is unable to release it from the cells, liver destruction results
A1AT inhibits elastase, but w/o it, elastase destroys lung and doesnt allow recoil --> emphysema |
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What causes probs in mucopolysaccharidoses?
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unable to metabolize GAGs
too many GAGs --> excessive connective tissue --> gargoyle like facies |
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Which organ causes hematochromatosis?
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small intestine takes up excessive iron
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Bernard-Soulier dz is due to lack of _________ needed for plt adhesion to ________
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GpIb
VWF |
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Lack of GpIIbIIIa causes
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Glanzmann's thrombasthenia
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What is GpIIbIIIa needed for?
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plt-plt adhesion
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What are some sphingolipidoses?
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Niemann-Pick, Gauchers, Tay-Sachs, Fabry
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In familial hypercholesterolemia, what is abnormal?
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LDL receptor is abnormal
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What is abnormal in spherocytosis?
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spectrin, protein that makes RBC shape normal
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Von Willebrand factor binds _____ and _______
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GpIb on plts
factor VIII in serium |
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What is the only inherited bleeding disorder that deals with Platelets AND clotting factors?
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Von Willebrand
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Axillary freckling is pathognumonic for?
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Neurofibromatosis i = Von Recklinghausen disease
also have >6 Cafe Au Lait spots due to loss of NF1 gene |
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What is Neurofibromatosis 2?
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"acoustic neurofibromatosis"
bilaterally schwannomas, multiple meningeomas due to loss of NF2 gene |
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What are some distinguishing features of tubular sclerosis?
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MR, facial angiofibromas, Shagreens patches (yellow patch of skin to sacral region), Ash leaf lesions
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Which neurofibromatosis has a high risk of renal cell CA?
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IV or Von-Hippel Lindau
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What is the genetic cause of Huntingtons dz?
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a trinucleotide repeat of CAG on chromosome 4
Triple repeats increase with generations |
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What is the fxn of G6PD?
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to get rid of radicals, specifically ROS in the RBC
In G6PD def, hemolysis occurs with exposure to excess radicals (infections, colds, drugs) |
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Some clinical findings of Fragile X syndrome?
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MR, large ears and jaw, b/l macroorchidism (large testicles)
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Can female carriers have signs of Fragile X even though its X linked recessive?
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Yes! 50% of females have MR too!
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What is the genetic cause of Fragile X?
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triple repeat disorder of CGG demonstrating anticipation, or increase in severity with each generation
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What is the cause of Fabry disease?
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decreased alpha -galactosidase A
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Fabry disease is characterized by ______ and ______
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angiokeratomas and renal failure
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Lesch-Nyhan syndrome is due to a deficiency of ______
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HGPRT, resulting in excess production of uric acid
Normally purines salvaged and recycled but need HGPRT for that |
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What things can increase purines and in turn uric acid?
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protein bars, lots of organ meat, drinking alcohol, chemo all cause more purines
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Why are Lesch-Nyhan pts self mutilating?
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increased serum uric acid levels --> neurotoxic
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What is Tumor Lysis Syndrome?
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chemo causes high uric acid syndrome which increases risk of gout and kidney stones
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What is diff b/t Duchenne and Becker MD?
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DMD - complete lack of dystrophin
BMD - decreased levels of dystrophin, less severe. Pts ambulatory longer, live longer |
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Brutons agammaglobulinemia is due to
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B cells not maturing properly, cannot make ABs
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What is the classic triad for Wiskott-Aldrich syndrome?
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thrombocytopenia, OM, eczema
"TOE" |
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Cri di chat is deletion of:
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5p
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Retinoblastoma is deletion of
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13q
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Prader Willi syndrome is partial deletion of ______ chromosome 15
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paternal
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Angelman syndrome is partial deletion of _______ chromosome 15
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maternal
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What are some unique characteristics of Angelman syndrome?
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inappropriate smiling and laughing
ataxia, jerky movements MR low muscle tone- vomiting microcephaly- delayed brain development |
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What does "A 3-iron" mean?
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HLA-A3 is seen in hemochromatosis or excessive iron
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What are the 3 diseases that are HLA-B27?
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1. ankylosing spondylitis
2. Reiters (cant pee, cant see, cant climb a tree) 3. Psoriatic arthritis (no RF) |
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Which HLAs is IDDM a/w?
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DR2 or DR3
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"DR3, SLE, give the insulin to me, plus diarrhea"
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DR3 = SLE, IDDM, celiac
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"4 criteria for RA dx, DR4, Dw4, Dw14
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way to remember it
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What is cataplexy?
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sudden loss of vol muscle control, seen in narcolepsy
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What are the 4 types of lupus nephropathy?
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Class II- Mesangial disease- most common and mildest
Class III- Focal Prolif nephritis Class IV- Diffuse Prolif nephritis (most severe) Class V- membranous glomerulonephropathy |
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How does DiGeorge syndrome develop
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defect in 3rd and 4th pharyngeal pouches results in developmental failure of thymus and parathyroids
deficit in T cells --> severe viral, fungal, protozoal infections |
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What is hyper IgM syndrome?
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inability of B cells to class switch from IgM to IgG
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What is the path behind Wiskott-Aldrich?
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B cells not stimulated to produce IgM
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What is Still's dz?
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Juvenile RA, acute febrile, no RF
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What is the characteristic appearance of Pagets dz on XRay?
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mosaic pattern
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Difference b/t osteoma and osteoid osteoma?
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osteoma - skull
osteoid osteoma - tibia or femur (painful) |
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Codmans triangle is a/w?
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Osteosarcoma
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Onion skin appearance and translocation 11;22 is a/w?
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Ewings sarcoma
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What is Gowers sign?
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When child trying to stand up uses hands to "climb up" body
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What is the most common supratentorial tumor in children, compresses optic nerve?
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craniopharyngioma
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What are symptoms of Cushings?
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moon face, buffalo hump, truncal obesity, skin striae, osteoporosis
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What is Sick Euthyroid syndrome?
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pts have severe illness, trauma or stress with low T3/T4 but clinically no signs of hypothyroidism
TSH is also normal |
