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This Week in NEJM: Sep 29, 2011

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In this week's NEJM, Robert Coleman from the University of Sheffield in the UK and his colleagues report on a phase 3 study that was conducted to determine the effect of the adjuvant use of zoledronic acid in patients with breast cancer. Zoledronic acid is a bisphosphonate, and bisphosphonate has been shown to prevent or delay metastasis in in vivo models. In this trial, 3,360 eligible women from 174 centers in seven countries were randomly assigned to receive either the standard adjuvant systemic therapy or that plus zoledronic acid. "In our study, no improvement was seen in the rate of disease-free survival, the primary end point of the study; rates of invasive-disease-free survival and overall survival were similar in the two study groups," the authors say.

Elsewhere, University College London's Robert West and his colleagues say that cytisine is an effective therapy for smoking cessation. Cytisine is a partial agonist of a nicotinic acetylcholine receptor that is associated with nicotine dependence, and here the researchers sought to determine whether it is efficacious and safe to use in humans with a short treatment time and limited guidance from healthcare workers. Though this was not a large study, the researchers say cytisine appears to be effective. "The lower cost of cytisine as compared with that of other pharmacotherapies for smoking cessation may make it an attractive treatment option for smokers in low-income and middle-income countries," they add.

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.