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25 Cards in this Set

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  • Back
Sickle Cell Disease buzzword
complications of sickle cell disease
aplastic crisis (parvovirus B19 infection), autosplenectomy, increased encapsulated organism infection risk, salmonella osteomyelitis, painful crisis, splenic sequestration crisis.
sickle cell on xray
crew cut appearance on skull xray due to marrow expansion from increased erythropoiesis (also in thalassemias)
sickle cell disease explained
autosomal recessive; HbS mutation is a single amino acid replacement in a beta chain; low 02 or dehydration precipitates sickling. heteros: sickle cell trait, are relatively malaria resistant (a balanced polymorphism)
Diphtheria cause
caused by corynebacterium diptheriae via exotoxin encoded by beta-prophage; the exotoxin inhibits protein synthesis via ADP ribosylation of EF-2
Diphtheria symptoms
pseudomembranous pharyngitis (gray-white membrane) w/ lymphadenopathy
Diphtheria diagnosis
gram positive rods w/ metachromatic granules; grows on tellurite agar
Diphtheria ABC's
ADP ribosylation
Factor 2
Von Gierke's Ds.
Glucose-6-phosphatase deficiency
Von Gierke ds. findings
severe fasting hypoglycemia, super increased glycogen in liver, increased blood lactate; "the liver becomes a muscle"
Von Gierke's #
Glycogen Storage Ds. type 1
Glycogen Storage Ds. pnemonic
VPCM - Very Poor Carb. Metabolism (types 1-4)

Von Gierke's
Glucose-6-phosphatase action
converts glucose-6-phosphate to glucose; cleaves inorganic phosphate from g-6-p and free glucose is released into the blood
Kartagener's Syndrome buzzword
dynein defect
Kartagner's syndrome
immotile cilia due to a dynein arm defect. results in male & female infertility (immotile sperm), bronchiectasis, and recurrent sinusitis (bac. and particles are not pushed out); associated w/ situs inversus
Who has Kartagner's?*
* but not really. cindy chen b/c she has situs inversus (and in pretend life, she also has bronchiectasis and chronic sinusitis - that is why she is so nasally (but she really isn't).
Cilia structure
9+2 arrangement of microtubules; dynein is an ATPase that links peripheral 9 microtubule doublets and causes bending of cilium by differential sliding of doublets.
Dynein vs. Kinesin
Dynein=retograde movement
Kinesin=anterograde movement
Osteogenesis Imperfecta
Abnormal collagen synthesis due to a variety of autosomal dominant gene defect
Osteogenesis Imperfecta features
1. Multiple fractures w/ minimal trauma
2. blue sclerae due to translucency of connective tissue over the choroid
3. hearing loss (abnl. middle ear bones)
4. dental imperfections
Osteogenesis Imperfecta type 2
fatal in utero and in the neonatal period
Osteogenesis Imperfecta incidence
Iron in hemoglobin is in a oxidized form (ferric 3+); usu. it is ferrous 2+; Hemoglobin doesn't bind O2 as readily but has increased affinity for cyanide
Methemoglobinemia treatment
Treat toxic levels of METHemoglobin with METHylene blue