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Biomedical subjects

Daniel J Friedman

Publications and source records attributed to Daniel J Friedman.

5 recordsLinked to original sources

The impact of common and rare genetic variants on bradyarrhythmia development.

To broaden our understanding of bradyarrhythmias and conduction disease, we performed common variant genome-wide association analyses in up to 1.3 million individuals and rare variant burden testing in 460,000 individuals for sinus node dysfunction (SND), distal conduction disease (DCD) and pacemaker (PM) implantation. We identified 13, 31 and 21 common variant loci for SND, DCD and PM, respectively. Four well-known loci (SCN5A/SCN10A, CCDC141, TBX20 and CAMK2D) were shared for SND and DCD, while others were more specific for SND or DCD. SND and DCD showed a moderate genetic correlation (rg = 0.63). Cardiomyocyte-expressed genes were enriched for contributions to DCD heritability. Rare-variant analyses implicated LMNA for all bradyarrhythmia phenotypes, SMAD6 and SCN5A for DCD and TTN, MYBPC3 and SCN5A for PM. These results show that variation in multiple genetic pathways (for example, ion channel function, cardiac developmental programs, sarcomeric structure and cellular homeostasis) appear critical to the development of bradyarrhythmias.

Humans↗

Assessment partnerships between managed care and public health: the Massachusetts experience.

This article explores factors that facilitate or impede data sharing and linkage collaborations between state public health agencies and managed care organizations (MCOs). The exploration is based upon a review of both recent literature and the four years' experience of the Massachusetts Health Assessment Partnership (MHAP). MHAP has undertaken six collaborative data sharing and linkage projects that have involved diverse topics and methods. This article summarizes both exogenous and endogenous factors that have affected MHAP as a successful collaboration and indicates those factors that might be replicated in future collaborations between public health agencies and MCOs in other locations.

Cooperative Behavior↗

Characteristics, desired functionalities, and datasets of state Web-based Data Query Systems.

Based on a review of state public health department Web sites, this article describes Web-based Data Query Systems (WDQSs) currently used in 27 US states. In addition, functionalities of selected well-established state WDQSs are defined as major functionalities (11), subfunctionalities (21), and specific functionalities (141), on the basis of a consensus process with participants from states and national organizations in the United States and Canada. Also, on the basis of the consensus process, specific functionalities are categorized as core, enhanced, and expert. Key terms relevant to WDQSs are defined. The information contained in this article should prove useful to public health agencies developing, revising, or evaluating the WDQS.

Consumer Behavior↗