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Fabry's disease

FABRY'S:
Foam cells found in glomeruli and tubules/ Febrile episodes
Alpha galactosidase A deficiency/ Angiokeratomas
Burning pain in extremities/ BUN increased in serum/ Boys
Renal failure
YX genotype (male, X linked recessive)
Sphingolipidoses
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---Rinku Uberoi UNIBE

Sickle cell disease pathophysiology

SICKle cell disease is due to a Substitution of the SICKsth amino acid of the B chain.
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---Anonymous Contributor

Sickle cell anemia: mutation

"HbS isn't Very Good":
At Sixth position of HB beta chain, Valine is present instead of Glutamic acid.
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---Dr. Khawaja Atif Farooq Rawalpindi Medical College, Islamabad, Pakistan

Heme synthesis: amino acid precursors to basic unit of porphyrins, heme (pyrrole ring)

"Dracula wants to Suck a Co-ed's blood [think heme] with his Glystening teeth!":
Succinyl CoA and Glycine are precursor amino acids to pyrrole rings, which is the basic unit of porphyrins and heme.
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---Christian Garaycochea Medical student

Porphyrias: acute intermittent porphyria symptoms

5 P's:
Pain in abdomen
Polyneuropathy
Psychologial abnormalities
Pink urine
Precipitated by drugs (eg barbiturates, oral contraceptives, sulpha drugs)
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---Anuradha

Hemoglobin binding curve: causes of shift to right

"CADET, face right!":
CO2
Acid
2,3-DPG (aka 2,3 BPG)
Exercise
Temperature
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---Anonymous Contributor

Coagulation common pathway: factors in order

10 + 5 - 2 = 13
Coagulation common pathway:
Factor X to Factor V to Factor II to Factor XIII
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---John Chung University of Hawaii John A. Burns School of Medicine

Vitamin K dependent cofactors

"Several Tend To Nicely Stop Clots":
Factor Seven, Ten, Two, Nine.
Protein S, Protein C.
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---Medical Student Class 2004 University of Western Ontario

Fabry disease: presentation

FABRY:
Ferile episodes
Angiokeratomas/ Alpha galactosidase A deficiency
Burning pain
Renal failure
Youth death
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---Dr. M. Ubaid Ullah Lahore, Pakistan