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GWAS, Regeneron and Geisinger, and liver disease Genome wide association studies (GWAS) look at broad populations for gene variants associated with a particular phenotype. Often, like in Type II diabetes, one finds hundreds of genes correlated with disease, and that’s obviously not very helpful. In lucky cases there are only a few variants, and that gives clues on potential underlying mechanisms of disease. But for the very lucky, there is a jackpot which is finding a variant that is actually protective against the disease – this is what happened with PSCK9.  It’s as good as one can imagine in defining… Read More

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There is such a thing as too much hygiene The prevalence of asthma in children has increased dramatically over the last few decades. Observational studies have shown that children in “dirty” environments such as farms seem to be relatively protected from asthma.  A theory is that the lack of exposure to microbes leads to higher sensitivity to allergens, but this causality has been hard to show. Amish and Hutterite farm communities are genetically similar, but Amish rely on animals instead of machinery, and Amish children have much lower incidence of asthma. In a fascinating study comparing Amish and Hutterite, it… Read More

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Surgical volume and referral for surgery: The impact of surgical volume on outcomes has been well documented, but is it top of mind with physicians referring patients to surgery? Readers of the Journal were polled on a hypothetical scenario whereby a community physician would be referring a patient in need of a major surgical procedure to either a nearby community hospital with a well-respected general surgeon doing approximately 5 of these cases a year versus a tertiary medical center 40 miles away. The great majority of readers chose the option to refer to the tertiary medical center. This does not… Read More

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The rise, fall, and rebirth of the Chinese healthcare system A fascinating account of the evolution of the Chinese healthcare system which almost seems to be an upside-down picture of the rest of the country’s development. Tremendous public health improvements occurred in the 50s, 60s, and 70s but the transition to a free market model of healthcare in the 80s seems to have been a disaster only mitigated by the general increase in wealth of the population. Seeing this as a major threat to social stability, the Chinese government has been trying to pick up the pieces with reforms in 2003… Read More

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A promising agent for Crohn’s Disease, a miserable illness Crohn’s is an inflammatory bowel disease that is notoriously unpredictable; flares can affect any part of the digestive tract and lead to grave complications. In this double-blind phase 2 study, patients were dosed with mongersen (licensed by Celgene) an anti-sense oligonucleotide that down-regulates the expression of a protein implicated in the inflammatory cascade. In general these classes of medications have to be given parenterally but in this case the target is the gut so it can be taken orally. At two weeks of treatment, the response rate was about 60% in the… Read More