Trisomy 13 (Puberty) -- Patau -- Microcephaly, HoloProsencephaly, Polydactyly, cleft lip / Palate, mental retardation, rocker-bottom feet, congenital heart disease. Death within 1 year of birth.
Trisomy 18 (Election age) -- Edwards' -- clenched hands, micrognathia, low-set ears, prominent occiput, severe mental retardation, rocker-bottom feet, congenital heart disease. Most common after Down syndrome. Death within 1 year of birth.
Trisomy 21 -- Down syndrome -- flat facies, prominent epicanthal folds, simian crease, large 1st web space (between 1st and 2nd toes), duodenal atresia, congenital heart disease (septum primum type ASD), increased risk of ALL Alzheimer's disease.
Myoepithelial cell -- can contract, associated with glandular epithelium
Myofibroblast -- can contract, associated with wound contraction, Dupuytren contracture
Aortic coarctation -- Turner's syndrome; Aneurysms of proximal aorta -- tertiary syphilis; Cardiac septal defects -- Fetal alcohol syndrome, Trisomy 18 and 21; Mitral valve prolapse and aortic root dilation -- Fetal alcohol syndrome
Ehler-Danlos versus Marfan versus homocystinuria
EDS triad: skin (hyperextensible, easily bruised), joints (hypermobile), cardiovascular (MVP, AAA, berry aneurysms)
Marfan triad: skeletal (eunuchoid habitus, arachnodactyly), eye (superotemporal ectopia lentis), cardiovascular (MVP, AAA)
Homocystinuria: skeletal (Marfanoid habitus -- can even get pectus excavatum, carinatum as in Marfan), eye (inferonasal ectopia lentis), mental retardation, atherosclerosis (stroke, MI, vessel thrombosis)
Normally carotid occlusion effect at carotid sinus (IX) is attenuated by aortic arch baroreceptors (X). Vagotomy potentiates effect, leading to greater increase of heart rate and mean arterial pressure.
Trimethaphan will decrease tone. This means vasodilation of vessels and MAP decrease (vessels: SNS dominant) and increase in heart rate (heart: PNS dominant)
Peutz-Jeghers syndrome: widespread freckles especially of lips and oral mucosa, and palms and soles, associated with increased potential for GI cancers (pancreas, colon, stomach, small intestine) and other carcinomas (breast, ovary, uterus, cervix, and lung)
Intense exercise leads to VEGF production, but not bFGF production; both cause angiogenesis.
Pigmented bile stones (calcium bilirubinate): biliary tract infections, hemolytic anemia, advanced age, alcoholic cirrhosis.
Increasing tidal volume is a more effective way of increasing alveolar ventilation than increasing breathing rate (due to dead space fixed costs).
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