brain-numb
ok… so i have nothing really interesting to post because i’m never doing anything really interesting because i’m always just sitting here studying because i’m really interested in doing well on these stupid boards and i would really rather not look like an idiot while on rotations. well, the last part probably can’t be helped, but i can at least look good on paper.
the only problem is… that i’m going a bit nuts at home by myself [my study buddies are indisposed at the moment]… and i have no one to talk about this dammned path with. so… my blog will be taking the abuse.
right to left shunts: Tetrology of Fallot, Transposition of the great vessles, Truncus arteriosus. left to right shunts: VSD, ASD, PDA. according to susan, pregnant women who get rubella in their 1st trimester have babies with PDA. you can close the PDA with indomethacin. there’s a giant flying bug on my balcony. in tetrology of fallot, you will see pulmonary stenosis that will lead to right ventricular hypertrophy and a ventricular septal defect with an overriding aorta. you will also see a boot shaped heart. the cause of TOF is an anteriosuperior displacement of the infundibular septum. transposition of the great vessels is due to failure of the aorticopulmonary septum to form correctly. so… you have the aorta coming out of the right ventricle and the pulmonary trunk coming out of the left ventricle and you end up recirculating deoxygenated blood thru the body and circulating the same oxygenated blood thru the heart. so sad. coarctation of the aorta in babies usually occurs proximal to the ductus arteriosus, in adults –> distal. you can see notching of the ribs, hypertension in the upper extremities, and weak pulses in the lower extremities. patent ductus arteriosus is associated with a continuous, machinery-like murmur. you can keep a PDA open using prostoglandin E. you will see decreased levels of alpha fetoprotein in down’s syndrome, along with mental retardation, flat face, duodenal atresia, congenital heart defects, alzheimer’s disease, and increased risk of ALL. ALL is the most common leukemia in kids. edward’s syndrome = trisomy 18. you’ll see severe mental retardation, rockerbottom feet, low set ears, micrognathia, congenital heart disease, clenched hands, prominent occiput. patau’s syndrome = trisomy 13. you will see severe mental retardation, micropthalmia, microcephaly, cleft lip/palate, abnormal forebrain structures, polydactyly, and congenital heart disease. cystic fibrosis is an autosomal defectin the CFTR gene on chromosome 7. there’s a defective chloride channel that causes the secretion of abnormally thick mucus that plugs up the lungs and predisposes these kids to chronic lung infections. CF kids may also have pancreatic insufficiency (malabsorption and fatty poo) and meconium ileus in newborns. males may have infertility because of an absent vas deferens. treat with N-acetylcystine to loosen the mucous plugs. adult polycystic kidney disease is caused by a mutation on chromosome 16, neurofibromatosis type 1 is caused by a problem with chromosome 17, neurofibromatosis 2 is on chromosome 22. von hippel-lindau is on chromosome 3.