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25 Cards in this Set
- Front
- Back
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Sickle Cell Disease buzzword
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Autosplenectomy;
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complications of sickle cell disease
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aplastic crisis (parvovirus B19 infection), autosplenectomy, increased encapsulated organism infection risk, salmonella osteomyelitis, painful crisis, splenic sequestration crisis.
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sickle cell on xray
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crew cut appearance on skull xray due to marrow expansion from increased erythropoiesis (also in thalassemias)
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sickle cell disease explained
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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)
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Diphtheria cause
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caused by corynebacterium diptheriae via exotoxin encoded by beta-prophage; the exotoxin inhibits protein synthesis via ADP ribosylation of EF-2
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Diphtheria symptoms
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pseudomembranous pharyngitis (gray-white membrane) w/ lymphadenopathy
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Diphtheria diagnosis
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gram positive rods w/ metachromatic granules; grows on tellurite agar
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Coryne
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club-shaped
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Diphtheria ABC's
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ADP ribosylation
Beta-prophage Corynebacterium Diphtheriae Elongation Factor 2 Granules |
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Von Gierke's Ds.
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Glucose-6-phosphatase deficiency
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Von Gierke ds. findings
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severe fasting hypoglycemia, super increased glycogen in liver, increased blood lactate; "the liver becomes a muscle"
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Von Gierke's #
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Glycogen Storage Ds. type 1
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Glycogen Storage Ds. pnemonic
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VPCM - Very Poor Carb. Metabolism (types 1-4)
Von Gierke's Pompe's Cori's McArdle's |
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Glucose-6-phosphatase action
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converts glucose-6-phosphate to glucose; cleaves inorganic phosphate from g-6-p and free glucose is released into the blood
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Kartagener's Syndrome buzzword
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dynein defect
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Kartagner's syndrome
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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
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Who has Kartagner's?*
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* 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).
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Cilia structure
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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.
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Dynein vs. Kinesin
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Dynein=retograde movement
Kinesin=anterograde movement |
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Osteogenesis Imperfecta
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Abnormal collagen synthesis due to a variety of autosomal dominant gene defect
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Osteogenesis Imperfecta features
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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 |
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Osteogenesis Imperfecta type 2
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fatal in utero and in the neonatal period
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Osteogenesis Imperfecta incidence
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1/10,000
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Methemoglobinemia
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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
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Methemoglobinemia treatment
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Treat toxic levels of METHemoglobin with METHylene blue
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