Fragile X syndrome (FXS) develops from excessive trinucleotide CGG repeats in the 5'-untranslated region at Xq27.3 of the Fmr-1 gene, which functionally silences its expression and prevents transcription of its protein. This disorder is the most prominent form of heritable intellectual deficiency, affecting roughly 1 in 5,000 males and 1 in 10,000 females globally. Antibody specificity and sele...

BACKGROUND Lipodystrophies are characterized by adipose tissue redistribution, insulin resistance (IR) and metabolic complications. Adipokines and hormones related to body composition may play an important role linking these alterations. Our aim was to evaluate adipocyte-derived hormones (adiponectin, leptin, resistin, TNF-α, PAI-1) and ghrelin plasma levels and their relationship with IR in HI...

INTRODUCTION Combined antiretroviral therapy (cART) in the treatment of HIV-1 infection has been associated with complications, including lipodystrophy, hyperlipidaemia, insulin resistance (IR) and diabetes. AIMS To compare the prevalence of glucose homeostasis disturbances and IR in HIV patients on cART according to the presence of lipodystrophy (defined clinically and by Fat Mass Ratio) and...

PURPOSE Training family medicine residents in underserved settings, such as community health centers (CHCs), may provide a solution to the primary care workforce shortage. We sought to describe the facilitators and barriers to creating partnerships between CHCs and family medicine residencies (FMRs). METHODS We conducted 19 key informant interviews and 3 focus groups to identify the key facto...

Three-dimensional (3D) transesophageal echocardiography (TEE) is the gold standard for mitral valve (MV) anatomic and functional evaluation. Currently, dedicated MV analysis software has limitations for its use in clinical practice. Thus, we tested here a complete and reproducible evaluation of a new fully automatic software to characterize MV anatomy in different forms of mitral regurgitation ...

We used an ongoing long-term field trial established since 1960 in Burkina Faso, to study the microbial properties of a Ferric Lixisol under various crop management and fertilization regimes. Microbial respiration rate, biomass carbon (MBC) and soil bacteria’s number were assessed samples taken at 0 - 20 cm depth. The continuous cropping sorghum (Sorghum bicolor L.) (S/S) rotation between...

BACKGROUND AND PURPOSE Findings of blood oxygen level-dependent (BOLD) functional MR (fMR) imaging of the cervical spinal cord, obtained by using a fist-clenching motor task, have been sporadically reported. Because spinal activation by sensory stimuli has a potential at least equal to that of fist clenching, its feasibility was assessed. Whether stimulation of the median nerve could evoke an f...

Abstract Funding Acknowledgements Type of funding sources: None. Background Recent studies have suggested that "disproportionate" functional mitral regurgitation (FMR) defined by greater MR than expected from the degree left ventricular (LV) dilatation may be a good candidate for transcatheter edge-to-edge repair (TEER). Determinants disproportionate FMR (d-FMR) is unknown. We hypothesized addi...

We have observed large discrepancies between the dc magnetization and ferromagnetic resonance (FMR) magnetic anisotropy in Mo-Ni superlattices. We show that higher-order anisotropy is present in both measurements and develop an analysis by which the first-order and second-order energies can be treated independently. The low-temperature results show a systematic divergence of the first-order FMR...

It is generally thought that fragile X-associated tremor/ataxia syndrome (FXTAS) represents a late-onset neurodegenerative disorder occuring in male carriers of a premutation expansion (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR 1) gene. However, several female patients with FXTAS have also been reported recently. Here, we describe a 23-year old woman with positive family hi...