March 13 Flashcards
Why is edema NOT seen in mild/moderate Right Heart Failure?
RHF causes:
Increased central venous pressure
Increased interstitial pressure
Increased lymphatic drainage!
ultimately lymphatic drainage is overwhelmed and edema is apparent
Acute Promyelocytic Leukemia
APML t(15:17)
15=PML gene
17=RARa gene (retinoic acid receptor alpha)
tx: all-trans retinoic acid, forces promyelocyte differentiation
symp: anemia, bruising, mucosal bleeding, recurrent infections
smear: promyelocytes with auer rods
Conus Medullaris Syndrome
Lesion at L2 (effects L2-S5)
impotence
flaccid paralysis of rectum and bladder
saddle anesthesia (S3,4,5)
causes: disc herniation, tumor, spinal fracture
Wheal and Flare lesion (bee sting)
Type I hypersensitivity
1) IgM –> IgE class switching
2) Fc of IgE binds mast cell and basophils
3) cross linking of bound IgE
4) degranulation - Histamine Release! (leukotrienes, prostaglandins)
vasodilation and increased vascular permeability
Gerstmann Syndrome
Lesion at Dominant Parietal Cortex
symp: agraphia, acalculia, finger agnosia
Preeclampsia
Gestational Hypertension > 140/90 after 20 weeks
-and-
Proteinuria
due to abnormal placentation, lack of invasion of maternal arteries by trophoblasts
HELLP Syndrome (pregnancy)
Hemolysis
Elevated Liver enzymes
Low Platelets
smear shows schistocytes
Fibrillin-1
Mutated in Marfan Syndrome
large extracellular glycoprotein that forms a sheath around elastin
abundant at:
large vessels (aortic dissection)
zonular fibers of lens (subluxation)
periosteum
FBN1 gene at Chr15
Marfan Syndrome
AD mutation of FBN1 gene at Chr15 - fibrillin deficit
Tall, thin, long fingers (arachnodactyly), hypermobile joints, pectus excavatum
dissecting aortic aneurysm
floppy mitral valve
subluxation of lens (up and out)
small nuclear ribonuclearproteins (snRNPs)
Form Spliceosome
removes introns
Spinal Muscular Atrophy
mutation in SMN1 gene - defective snRNPs –> defective spliceosome
symp: flaccid paralysis due to degeneration of anterior horn, motor delays, decreased DTRs
What amino acid is essential in PKU patients?
Tyrosine
(lack phenylalanine hydroxylase which converts phenylalanine –> tyrosine)
symp: musty odor, light pigmentation, developmental delay, seizures
restrict phenylalanine from diet!
Tyrosine derivatives
Catecholamines norepinephrine epinephrine dopamine melanin
Failure of spiraling at cardiac development
Transposition of Great Vessels
incompatible with life unless PDA or patent foramen ovale occurs too
What serum substances increase with SIBO (small intestine bacterial overgrowth)
Folate
Vit K
(deficiency in B12, D, A, E, and iron)