Random First Aid Facts Flashcards
Amino acids necessary for purine synthesis?
GAG = Glycine, Aspartate, Glutamine
Where is the action of Leflunomide?
It inhibits dihydroorotate dehydrogenase and interferes with synthesis of orotic acid from carbamoyl phosphate thereby inhibiting pyrimidine synthesis.
What is the effect of alpha-amanatin toxin and where does it come from?
Comes from the mushroom Amantia phalloides (death cap mushroom) and inhibits RNA pol II. Results in severe hepatotoxicity if ingested
What are P-bodies?
They are cytoplasmic bodies with exonucleases, decapping enzymes, and microRNAs that act as a quality control check point and storage reservoir for mRNAs.
Describe tRNA structure:
Amino acid bound to the 3’ end. Going 3’ to 5’ we have amino acid, T-arm (binds to ribosome), Variable arm, anti-codon loop, and D-arm (dihydrouracil residues for recognition by tRNA synthetase).
What is the pathophysiology of I-cell disease?
Defect in phosphotransferase so the Golgi can’t phosphorylate mannose residues and therefore nothing can be traficked to lysosomes. Get accumulation of lysosomal enzymes in the blood. Coarse facial features, clouded corneas, decreased joint mobility. Fatal in childhood.
Where is Collagen Type 1 found
Bone, Skin, Tendon, fascia, cornea, late wound repair
Collagen Type 2:
Cartillage, vitreous body, nucleus pulposus
Collagen Type 3:
Reticulin (Skin), blood vessels, uterus, fetal tissue, granulation tissue. Implicated in the rare vascular type of Ehlers-Danlos syndrome
Collagen Type 4:
Basement membrane, lens of the eye
What three processes happen to Collagen in the RER?
Synthesis, hydroxylation, and Glycosylation and formation of the triple helix. It is now procollagen. Defects in this point cause OI.
What disease do problems with collagen crosslinking lead to?
Ehlers-Danlos Syndrome
What is the pathophysiology of most common cause of OI?
Autosomal dominant with decreased production of otherwise normal Type 1 collagen.
What are the three types of Ehlers-Danlos Syndrome?
1) Hypermobility type (most common)
2) Classical Type (joint and skin symptoms); Type V collagen issues
3) Vascular type (vascular and organ rupture); Type III collagen.
What is Menkes disease?
It is due to impaired Cu absorption and transport thereby decreasing the activity of lysyl oxidase. Brittle, “kinky” hair, growth retardation, hypotonia
When should we consider Uniparental disomy?
When an individual is manifesting a recessive disorder and only one parent is a carrier! Note can be a meisosis 1 error (Heterodisomy) or meisosis 2 error (Homodisomy)
According to H-W equilibrium, what is the freqneyc of an X-linked recessive disease in Males and Females?
Males = q and females = q^2
What acid base abnormality can CF present with?
Contraction alkalosis and hypokalemia due to the decreased ECF H2O and Na+ content.
What is the treatment for CF?
N-Acetyl Cysteine can loosen mucous plugs and dornase alfa (DNAse) to clear leukocyte debris.
Why is the the dystrophin protein at an increased risk of spontaneous mutations?
It is the longest coding region of any human gene
What is the pathophysiology of Myotonic Dystrophy?
CTG trinucleotide repeat expansion in the DMPK gene (AD inheritance).
Sx: Myotonia ( slow relaxation!), wasting, frontal balding, cataracts, testicular atrophy, arrhythmia.
Type 1 fibers more affected
What is the various trinucleotide Repeat sequences:
X-Girlfriends First Aid Helped Ace My Test Fragile X: CGG Friedreich ataxia: GAA Huntingtons: CAG Myotonic Dystrophy: CTG
What is the Leser-Trelat sign?
Sudden appearance of multiple seborrheic karatoses can indicate an underlying malignancy (e.g. GI, lymphoid)
What skin condition is associated with celiac disease?
Dermatitis Herpetiformis (IgA deposition at the tips of the dermal papillae). Pruritic papules, vesicles, and bullae.