geoffrey modest medical blogs

The FDA just approved direct-to-consumer marketing for genetic risk information (23andMe Personal Genome Service Genetic Health Risk) for 10 conditions, though noting that "the tests cannot determine a person's overall risk of developing a disease or condition ... there are many factors that contribute to the development of a health condition, including environmental and lifestyle factors." This approved test involves saliva samples, assessing more than 500,000 genetic variants associated with increased risk of: Parkinson's disease, late-onset Alzhemer's , Celiac disease, Alpha-1 antitrypsin deficiency, Early-onset primary dystonia, Factor XI deficiency,  Gaucher  disease type 1, Glucose-6-phosphate dehydrogenase deficiency, Hereditary hemochromatosis, Hereditary thrombophilia. see  https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm551185.htm ​  The FDA reviewed the data for 23andMe through a premarket review pathway for low-to-moderate risk...

Atrial fibrillation is an important risk factor for current ischemic strokes, but may be hard to diagnose in those presenting in sinus rhythm. A reasonably large German study found that prolonged  Holter  monitoring picked up many more cases of atrial fibrillation than standard monitoring, the Find-AF RANDOMISED   trial (see  afib ischemic stroke  holter  monitoring lancetneuro2017  in  dropbox , or  Wachter  R. Lancet  Neurol  2017; 16: 282–90). Details: --398 patients were recruited from 2013-2014 in 4 German centers, all with acute ischemic stroke and symptoms for 7 days or less, aged 60 years or older, in sinus rhythm and no history of atrial fibrillation (AF). -- Mean age 73, 40% women, 80% hypertension/27% diabetes/41% hyperlipidemia/18% current smoker/29% previous smokers/20% previous ischemic stroke/8% previous TIA/5% heart failure/10% MI/15% CAD/7% with ejection fraction...

The American Gastroenterological Association just published a clinical practice update on the care of hepatitis C patients who achieve a sustained virologic response (SVR) after direct-acting antiviral therapy (DAA). See  hep c svr followup AGA2017   in dropbox, or   doi.org/10.1053/j.gastro.2017.03.018 ). Their recommendations: -- Reconfirm SVR at 48 weeks post-DAA treatment. Studies have found that <1% of patients relapse after SVR at 24 weeks (SVR24, though SVR12 at 12 weeks is now more commonly checked). These are real relapses, not reinfections, and seem to be independent of viral genotype or particular type of patient. But this low rate of relapses still justify checking [and presumably treating]. The European Assn for the Study of the Liver also recommends the 48 week SVR check. -- Continue surveillance for hepatocellular carcinoma (HCC) with liver imaging +/- serum AFP 2x/year indefinitely in all patients wi...

2 articles of note just came out on syphilis. MMWR presented data on rates of primary and secondary syphilis in the US in 2015 (see  https://www.cdc.gov/mmwr/volumes/66/wr/mm6613a1.htm  ). The overall case rate was 7.5/100K population, nearly 4 times the previous lowest documented rate of 2.1/100K in the year 2000, a nadir after which it has increased each year. The rate increased 22% during 2011-13. Details: -- in 2015, there were 23,872 reported primary and secondary syphilis cases in the United States.  -- 81.7% of male primary and secondary syphilis cases were among gay, bisexual, and other men who have sex with men (MSM) -- among the 44 states reporting information on the sex of sex partners for > 70% of male cases, the rates were:     -- overall for men over 18 years old: 17.5/100K     -- men who have sex only with women: 2.9/100K -- MSM: 309.0/100K, which translates to:     -...

The Scientific American magazine just had an article which made the point that in cross-cultural studies, human beings expend the same number of calories whether they are doing intense exercise or sitting around (see   https://www.scientificamerican.com/article/the-exercise-paradox/  ). These anthropologists studied several human populations, though this report was largely on the Hadza people who lived in the dry savanna wilderness of northern Tanzania. In particular they found that Hazda men who spent days hunting and tracking game, ate and burned 2600 cal a day. Hadza women, who also did a lot of physical work, ate and burned 1900 cal a day. This is pretty much the same as adults in the US or Europe, and was independent of body size, fat percentage, or age. Similarly, research has shown that rural Nigerian women and African-American women in Chicago have similar energy expenditure, despite large differences in activity level. And, a large collaborative effort...