Atlantic Health System

About: Atlantic Health System is a healthcare organization based out in Morristown, New Jersey, United States. It is known for research contribution in the topics: Health care & Medicine. The organization has 277 authors who have published 299 publications receiving 6594 citations.

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Abstract: The tRNA synthetases catalyze the first step of protein synthesis and have increasingly been studied for their nuclear and extra-cellular ex-translational activities Human genetic conditions such as Charcot-Marie-Tooth have been attributed to dominant gain-of-function mutations in some tRNA synthetases Unlike dominantly inherited gain-of-function mutations, recessive loss-of-function mutations can potentially elucidate ex-translational activities We present here five individuals from four families with a multi-system disease associated with bi-allelic mutations in FARSB that encodes the beta chain of the alpha2beta2 phenylalanine-tRNA synthetase (FARS) Collectively, the mutant alleles encompass a 5′-splice junction non-coding variant (SJV) and six missense variants, one of which is shared by unrelated individuals The clinical condition is characterized by interstitial lung disease, cerebral aneurysms and brain calcifications, and cirrhosis For the SJV, we confirmed exon skipping leading to a frameshift associated with noncatalytic activity While the bi-allelic combination of the SJV with a pArg305Gln missense mutation in two individuals led to severe disease, cells from neither the asymptomatic heterozygous carriers nor the compound heterozygous affected individual had any defect in protein synthesis These results support a disease mechanism independent of tRNA synthetase activities in protein translation and suggest that this FARS activity is essential for normal function in multiple organs

Enhancing causal interpretations of quality improvement interventions

Abstract: In an era of chronic resource scarcity it is critical that quality improvement professionals have confidence that their project activities cause measured change. A commonly used research design, the single group pre-test/post-test design, provides little insight into whether quality improvement interventions cause measured outcomes. A re-evaluation of a quality improvement programme designed to reduce the percentage of bilateral cardiac catheterisations for the period from January 1991 to October 1996 in three catheterisation laboratories in a north eastern state in the USA was performed using an interrupted time series design with switching replications. The accuracy and causal interpretability of the findings were considerably improved compared with the original evaluation design. Moreover, the re-evaluation provided tangible evidence in support of the suggestion that more rigorous designs can and should be more widely employed to improve the causal interpretability of quality improvement efforts. Evaluation designs for quality improvement projects should be constructed to provide a reasonable opportunity, given available time and resources, for causal interpretation of the results. Evaluators of quality improvement initiatives may infrequently have access to randomised designs. Nonetheless, as shown here, other very rigorous research designs are available for improving causal interpretability. Unilateral methodological surrender need not be the only alternative to randomised experiments.

Alcohol use and congestive heart failure: incidence, importance, and approaches to improved history taking

Abstract: Alcohol use, abuse, and dependence have the potential to result in alcoholic cardiomyopathy (ACM). This distinct form of congestive heart failure (CHF) is responsible for 21-36% of all cases of nonischemic dilated cardiomyopathy in Western society. Without complete abstinence, the 4-year mortality for ACM approaches 50%. Therefore, accurate and detailed assessment of alcohol use in congestive heart failure is essential. The prevalence of problematic alcohol use is unrecognized by many clinicians. Clinical assessment of alcohol intake is often reduced to a simple question such as, "Do you drink?" Denial and minimization are hallmarks of alcohol abuse, with many individuals underreporting their use of alcohol. Clinicians can overcome these hurdles by implementing practical history taking measures to improve the accuracy of self-reported alcohol use. The data regarding the dangers of ongoing alcohol use in individuals with ACM make attempts to engage individuals in treatment to support abstinence essential. Suggestions for detailed and accurate assessment are discussed.