Johns Hopkins University School of Medicine

About: Johns Hopkins University School of Medicine is a healthcare organization based out in Baltimore, Maryland, United States. It is known for research contribution in the topics: Population & Medicine. The organization has 44277 authors who have published 79222 publications receiving 4788882 citations.

A huntingtin-associated protein enriched in brain with implications for pathology

Abstract: HUNTINGTON's disease (HD) is an autosomal dominant neuro-degenerative disorder caused by an expanding polyglutamine repeat in the IT 15 or huntingtin gene1. Although this gene is widely expressed2–9 and is required for normal development10–12, the pathology of HD is restricted to the brain, for reasons that remain poorly understood. The huntingtin gene product is expressed at similar levels in patients and controls, and the genetics of the disorder13,14 suggest that the expansion of the polyglutamine repeat induces a toxic gain of function, perhaps through interactions with other cellular proteins15–18. Here we report the identification of a protein (huntingtin-associated protein (HAP)-l) that binds to huntingtin. This binding is enhanced by an expanded polyglutamine repeat, the length of which is also known to correlate with the age of disease onset19–21. The HAP-1 protein is enriched in the brain, suggesting a possible basis for the selective brain pathology of HD.

BSmooth: from whole genome bisulfite sequencing reads to differentially methylated regions

Abstract: DNA methylation is an important epigenetic modification involved in gene regulation, which can now be measured using whole-genome bisulfite sequencing. However, cost, complexity of the data, and lack of comprehensive analytical tools are major challenges that keep this technology from becoming widely applied. Here we present BSmooth, an alignment, quality control and analysis pipeline that provides accurate and precise results even with low coverage data, appropriately handling biological replicates. BSmooth is open source software, and can be downloaded from http://rafalab.jhsph.edu/bsmooth.

Operating Room Teamwork among Physicians and Nurses: Teamwork in the Eye of the Beholder

Abstract: Background Teamwork is an important component of patient safety. In fact, communication errors are the most common cause of sentinel events and wrong-site operations in the US. Although efforts to improve patient safety through improving teamwork are growing, there is no validated tool to scientifically measure teamwork in the surgical setting. Study design Operating room personnel in 60 hospitals were surveyed using the Safety Attitudes Questionnaire. Surgeons, anesthesiologists, certified registered nurse anesthetists, and operating room nurses rated their own peers and each other using a 5-point Likert scale (1 = very low, 5=very high). Results Overall response rate was 77.1% (2,135 of 2,769). Ratings of teamwork differed substantially by operating room caregiver type, with the greatest differences in ratings shown by physicians: surgeons (F[4, 2058] = 41.73, p Conclusions Considerable discrepancies in perceptions of teamwork exist in the operating room, with physicians rating the teamwork of others as good, but at the same time, nurses perceive teamwork as mediocre. Given the importance of communication and collaboration in patient safety, health care organizations should measure teamwork using a scientifically valid method. The Safety Attitudes Questionnaire can be used to measure teamwork, identify disconnects between or within disciplines, and evaluate interventions aimed at improving patient safety.

Frequency of homozygous deletion at p16/CDKN2 in primary human tumours

Abstract: Many tumour types have been reported to have deletion of 9p21 (refs 1-6). A candidate target suppressor gene, p16 (p16INK4a/MTS-1/CDKN2), was recently identified within the commonly deleted region in tumour cell lines. An increasing and sometimes conflicting body of data has accumulated regarding the frequency of homozygous deletion and the importance of p16 in primary tumours. We tested 545 primary tumours by microsatellite analysis with existing and newly cloned markers around the p16 locus. We have now found that small homozygous deletions represent the predominant mechanism of inactivation at 9p21 in bladder tumours and are present in other tumour types, including breast and prostate cancer. Moreover, fine mapping of these deletions implicates a 170 kb minimal region that includes p16 and excludes p15.