test #7 3/16 Flashcards
initiation of translation in prokaryotes requires..
N-formylated methionine-tRNA. initiation codon AUG (methionine) is 6-10 bases downstream Shine-Dalgarno element.
Shine-dalgarno element (prokaryotic translation)
6-10 bases upstream intiation codon AUG. recognizes complementary sequences in 16S rRNA and 30S small ribosomal subunit.
how do aminoglycosides affected prokaryotic translation?
bind to 30S, inhibit formation of initiation complex and protein synthesis.
which antibiotic blocks peptidyltransferase activity of prokaryotic ribosome (1)
chloramphenicol
which antibiotics block the translocation of ribosome along mRNA (2)
clindamycin and erythromycin
difference in p-values between studies suggests..
difference in sample size (i.e. underpowered)
Berkson’s bias
selection bias created by selecting hospitalized patients as the control group
congenital torticollis
noted 2-4 wks of age, child prefers to hold head tilted to one side. usu result of malposition of head in utero (due to fetal macrosomia or oligohydramnios) or birth trauma (breech). sternocledomastoid injury and fibrosis. other musculoskeletal abnormalities: hip dysplasia, metatarsus adductus, talipes equinovarus (club foot)
resolve w/ conservative therapy / stretching
chin pointed away from contracted SCM. head tilted towards muscle.
maternal hypertension on intrauterine growth
intrauterine growth restriction w/ normal-almost normal headaize and reduced abdominal circumference
fragile X-syndrome characterestics
main: MR, facial dysmorphism, macroorchidsm. mild-severe mental retardation, long-thin face w/ prominent forehead and jaw, post-pubertal macroorchidism, large protruding ears, tooth crowding, arched palate
gene abnormality in fragile X syndrome
mutation in FMR1 gene, on long arm of chromosome X. normally has 5-55 CGG trinucleotide repeats. >200 repeats –> transcriptional instability. leads to hypermethylation –> gene inactivation.
chromosomal instability disorders (4)
related to mutations in DNA repair: xeroderma pigmentosum, ataxia-telangiectasia, fanconi’s anemia, bloom syndrome
defective mismatch repair genes result in..
Lynch syndrome (increased risk of heriditary non-polyposis colorectal cancer) and extraintestinal malignancy
tay sach’s deficiency & metabolite build-up
lysosomal storage disease. commonly seen in ashkenazi jews. deficiency in beta-hexosaminidase A. accumulation of cell membrane glycolipid GM2 ganglioside in lysosomes.
tay sach’s clinical presentation
2-6 months – progressive weakness, hypotonia, loss of motor skills, abnormal startle w/ acoustic stimuli, CHERRY-RED MACULA w/ NO hepatosplenomegaly. macrocephaly (accumulation of glycolipid in brain). eventually–> seizure, blindness, spasticity. life expectancy of 2-5 years.
histology of tay sach’s (EM)
neurons w/ cytoplasmic distension and lysosomes w/ onion skin lamellar lipid rings
tay sach’s vs. niemann-pick disease
both have cherry-red macular spot. niemann-pick has hepatosplenomegaly.
formula for NNH (number needed to harm)?
1/attributable risk.
attributable risk = adverse event rate in treatment group - adverse event rate in placebo group.
formula for NNT (number needed to treat)?
1/absolute risk reduction
combined OCP primary mode of action. secondary?
estrogen/progesterone suppress synthesis of FSH and LH (gonadotropins) in anterior pituitary (block LH spike needed for ovulation). also cause thickening of cervical mucus (prevent sperm from entering). also, prevents growth of endometrium, making it difficult for embryo implantation.
what is seen in periventricular plaques of MS? what is in CSF? on visual evoked potentials?
loss of myelin sheaths, depletion of oligodendrocytes, lipid-laden macrophages w/ myelin breakdown products. oligoclonal band on protein electrophoresis. slowed conduction velocity on visual evoked potentials.
PT and PTT and bleeding time in vWF deficiency?
both coagulopathy (factor VIII) and platelet deficiency. PTT and bleeding time elevated.
hemophilia C
very rare autosomal recessive, deficiency in factor XI
factor VIII deficiency
classic X-linked hemophilia. PTT prolonged.