Genetics (week 5): Inheritance: Autosomal Dominant

congenital = present at birth
hereditary = inherited
familial = runs in family
genetic = caused by gene

reduced penetrance often at work in dominant diseases: genotype does not "penetrate" to phenotype

( notes on osteogenesis imperfecta, neurofibromatosis, achondroplasia, marfan syndrome, polycystic kidney disease )

Genetics (week 5): Autosomal Recessive

( notes: phenylketonuria, albinism, Tay sachs, cystic fibrosis )

Meta-analysis shows Ibuprofen causes the most Strokes

...of all tested Cox 2 inhibitors, that is. It was also the least studied of the NSAIDS they looked at. They conclude that naproxen seems least harmful, however the analysis did not consider GI side effects, only cardiovascular.
http://www.medscape.com/viewarticle/736039?src=mp&spon=27

Vitamin D deficiency in pts with Hyperparathyroid

http://www.medscape.com/viewarticle/735066?src=mp&spon=22

Vitamin D deficiency occurs more frequently in patients with primary hyperparathyroidism (PHPT) compared with the general population, and is usually associated with an aggravated form of the disease. Current guidelines recommend measurement of serum levels of 25-hydroxy vitamin D (25-OHD) in all patients with PHPT, and their repletion if the levels are less than 50 mmol/L (20 ng/mL). Limited data suggest that vitamin D treatment is generally safe in subjects with mild PHPT and coexisting vitamin D deficiency. Adverse effects include hypercalcuria and, less commonly, exacerbation of hypercalcemia. Well-designed trials are needed to evaluate the safety of vitamin D replacement therapy in a wide spectrum of patients with concomitant PHPT and vitamin D deficiency. These trials should address the impact of such therapy on the complications and course of PHPT.

Writer's Block: The name game

[Error: unknown template qotd]

My username is simply something descriptive that I came up with after my first several username choices were not available. I didn't even google it first, to know that it was SO already done. But I don't care. I am still reporting here live on earth, so it works. I have no other name I'd adopt now, liveonearth has a life of its own.