Cerebral Vein thrombosis, Deep Vein thrombosis
- clotting factor V
- Prothrombin variant
- Oral contraceptive
- 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
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
- Diabetes Mellitus
x linked recessive disorders
- Bruton agammaglubelimia
- Ocular albinism
- Lesch Nyhan syndrom
- Duchenne and Becker muscular dystrophy
- Hemophilia A and B(Christmas)
Trinucleotide repeat expansion diseases
(Try Hunting for My Fried eggs(X)
- Fragile X syndrom
- Myotonic Dystrophy
- Friedrich's Ataxia
- Down syndrom-Ch 21
- Edwards Syndrome-Ch 18
- Patau Syndrom-Ch 13
Methemoglobin carries what?
Methemoglobin is transmitted how?
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?
Whats the only lipid component of ETC?
Copper is used by what complex in the ETC?
Loss of all alpha genes results in what?
In which thalasemia would you see extramedullary erythropoeises and medullary expansion?
Frontal bossing and a chipmunk, hepatomegally is seem when?
Iron overload is risky in what gender/?