Random facts Flashcards
Down’s syndrome: most common time for nondisjunction.
Anaphase I
Most common genotype + parental source for complete molar pregnancy.
Genotype: 46, XX
Parental source: paternal
HIV resistant genotypes
Homozygous for CCR5 mutation
Californians Like Girls in String Bikinis
Layers of the skin: Corneum (keratin) Lucidum (glabrous only) Granulosum Spinosum (desmosomes) Basalis (stem cells)
At FRC, the intrapleural pressure is ________ and the airway pressures is ____________.
- -5 cm H2O (CW going out, lung pulling in)
- 0 (air no flow)
How many calories per gram do you get from fat, carbs, and protein? And EtOH?
Carbs + protein: 4 cals
fat: 9 cals
EtOH: 7 cals
Stop codons are:
UGA, UAA, UAG
U Go Away
U Are Away
U Are Gone
Amantin from mushrooms inhibits:
RNA pol II (does mRNA)
What do P bodies do?
mRNA quality control in the cytoplasm
What is AAUAAA?
Poly-adenylation signal
DesMin stains for:
Muscle
Vimentin stains for:
Mesenchymal tissues (fibroblast, endothel cells, macrophages for sarcoma, etc)
Locus v Allelic heterogeneity
Locus: mutations at different loci = same pheno
Allelic: diff mutations at same loci = same pheno
Oblivious Female Will Often Give Her Boys Her x-Linked Disorders (X-link rec)
Ornithine transcarbamylase def Fabry Wiskott-Aldrich Ocular albinism Hunter Bruton Agammaglobulinemia Hemophilia A and B Lesch-Nyhan Duchenne/Becker
Patau
- cleft liP/Plate, holoProsencephaly, Polydactyly (small eyes too)
- Puberty 13
Edwards
- small jaw, low-set Ears
- clenched hands with overlapping fingers
- Election 18
Cri-du-chat
- microdel of Xosome 5p (p for petit)
- high-pitched mewing/cry, heart defects, microceph, and epicanthal folds
Williams
- microdel of 7q
- “elfin” facies, intel disable, hyper Ca+2 (more sensitive to vit D), friendly, CV probs
Signs of arsenic poisoning
- vomiting
- garlic breath
- rice-water stool
(inhibits lipoic acid on pyruvate dehydrogenase)
Which histone is one the outside of the core and binds linker DNA?
H1
Mitochondria metabolic pathways
- B ox of FA
- TCA cycle
- carboylation of pyruvate (gluconeogenesis)
Cytosol metabolic pathways
- glycolysis
- FA synthesis (using citrate to make malonyl CoA)
- pentos phosphate pathway (that uses transketolase and V1)
What causes shock in LPS?
Lipid A (Ag O is just a marker of G- bact)
NOD2 mutations is assoc with:
Crohn’s dz
- decreased NF-KB leads to decreased cytokine production and innate IS leading to overaction of adaptive IS when gut bacteria get through
Tartrate resistant acid phosphatase is assoc with?
Hairy cell leukemia
Platelet-derived growth factor receptor mutations are assoc with __________ leukemia.
Chronic myelomonocytic leukemia
Peroxidase + leukemia
AML
TdT leukemia
ALL
Necrolytic migratory erythema (painful rash at groin and legs) and DM
glucagonoma
