Associated features in females with an FMR1 premutation

Abstract Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested

Open Letter on Shaken Baby Syndrome and Courts: A False and Flawed Premise

The Open Letter on Shaken Baby Syndrome and Courts has been prepared under the auspices of the International Public Health Research Group [IPHRG]. It was developed from initial drafts by Bill Bache and Charles Pragnell. Final drafting and editing was by Dr Lynne Wrennall, Executive Director of the International Public Health Research Group and the Managing Editor of Argument & Critique. The process of writing the letter has relied on the published research in the field, much of it, published research by the signatories to the letter. The process has also drawn on the iterative contribution of insights by the signatories to the letter. For the purpose of developing the letter, The International Public Health Research Group has functioned as a Delphi group, advising on the process and content relating to the letter

Coordinating Global Multi-Site Studies of Military-Relevant Traumatic Brain Injury: Opportunities, Challenges, and Harmonization Guidelines

Traumatic brain injury (TBI) is common among military personnel and is often followed by a heterogeneous array of clinical, cognitive, behavioral, mood, and neuroimaging changes. This inconsistent presentation makes it difficult to establish or validate biological and imaging markers that could help improve diagnostic and prognostic accuracy in this patient population. The purpose of this manuscript is to describe both the challenges and opportunities when conducting research with Service Members and Veterans and introduce the Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Military Brain Injury working group. ENIGMA is a worldwide consortium focused on improving replicability and analytical power through data sharing and collaboration. In this paper, we discuss challenges affecting efforts to aggregate data in this patient group. In addition, we highlight how “big data” approaches might be used to understand better the role that each of these variables might play in the imaging and functional phenotypes of TBI in Service Member and Veteran populations, and how data may be used to examine important military specific issues such as return to duty, the late effects of combat-related injury, and alteration of the natural aging processes