-
Cerebral Vein thrombosis, Deep Vein thrombosis
- clotting factor V
- Prothrombin variant
- Oral contraceptive
-
Hirschsprung Disease
- absence of colonic ganglionic cells
- ReT, Ligand gdnf, endothelium B receptor..ligand endothelium
- Mutation in intron
-
Type 1 DM
- HLA-DR3 or HLA-DR4
- other gene mutations present
- Beta cell destruction via autoimmunity
- Viral infection
-
Alzheimer Disease
epsilon4 allele of apoE
-
Environmental cause of Anencephaly, Spina Bifida
Folic acid deficiency in maternal blood
-
Cleft Lip and Cleft Palate
- transcription factors TBX1,MSX1, IRF6, FGFR1
- maternal smoking
-
Schizophrenia
22q11 deletion
-
CAD
- Hypertension
- Obesity
- Diabetes Mellitus
-
x linked recessive disorders
- Bruton agammaglubelimia
- Wiskott-Aldrich
- Fabry's
- G6pd
- Ocular albinism
- Lesch Nyhan syndrom
- Duchenne and Becker muscular dystrophy
- Hunter
- Syndrome
- Hemophilia A and B(Christmas)
-
Trinucleotide repeat expansion diseases
(Try Hunting for My Fried eggs(X)
- Huntington
- Fragile X syndrom
- Myotonic Dystrophy
- Friedrich's Ataxia
-
Autosomal Trisomies
- Down syndrom-Ch 21
- Edwards Syndrome-Ch 18
- Patau Syndrom-Ch 13
-
Methemoglobin carries what?
H20
-
Methemoglobin is transmitted how?
Autosomally dominant
-
Methemoglonin is also called what?
Hb Hyde park
-
What results from Hb Kempsey?
polycythemia---impaired Oxygen delivery to tissues
-
Hb Tak results from ?
- 2 b.p insertion..frame shift mutation
- increased oxygen affinity
-
Which Hb displays novel function?
Hb S
-
Whats the only lipid component of ETC?
coenzyme Q
-
Copper is used by what complex in the ETC?
Complex IV
-
Loss of all alpha genes results in what?
Hydrops fetalis
-
In which thalasemia would you see extramedullary erythropoeises and medullary expansion?
Beta thalasemia
-
Frontal bossing and a chipmunk, hepatomegally is seem when?
beta thalasemia
-
Iron overload is risky in what gender/?
man
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