Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

RNA binding motif protein X-linked (RBMX) encodes the heterogeneous nuclear ribonucleoprotein G (hnRNP G) that regulates splicing, sister chromatid cohesion and genome stability. RBMX knock down experiments in various model organisms highlight the gene's importance for brain development. Deletion of the RGG/RG motif in hnRNP G has previously been associated with Shashi syndrome, however involvement of other hnRNP G domains in intellectual disability remain unknown.

Performance and user-friendliness of the rapid antigen detection tests QuickVue Dipstick Strep A test and DIAQUICK Strep A Blue Dipstick for pharyngotonsillitis caused by Streptococcus pyogenes in primary health care.

Sensitivity and specificity of rapid antigen detection tests (RADTs) for detection of group A hemolytic streptococcus (GAS) vary. The purpose is to present the first SKUP (Scandinavian evaluation of laboratory equipment for point of care testing) evaluations concerning the assessment of the diagnostic performance and user-friendliness of two RADTs for detection of GAS when used under real-life conditions in primary health care. Throat samples were collected in duplicates at primary health care centers (PHCCs) from patients with symptoms of pharyngitis.

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.

The TATA-box binding protein associated factor 1 (TAF1) protein is a key unit of the transcription factor II D complex that serves a vital function during transcription initiation. Variants of TAF1 have been associated with neurodevelopmental disorders, but TAF1's molecular functions remain elusive. In this study, we present a five-generation family affected with X-linked intellectual disability that co-segregated with a TAF1 c.

Accuracy of determination of the glomerular filtration marker iohexol by European laboratories as monitored by external quality assessment.

Background Glomerular filtration is the most important kidney function. The most accurate glomerular filtration rate (GFR) estimates are based on the clearance of exogenous filtration markers. Of these, iohexol is the only exogenous marker that is included in an external quality assessment (EQA) scheme.

Clinical and cost benefits of medical nutrition therapy by registered dietitian nutritionists for management of dyslipidemia: A systematic review and meta-analysis.

Background: Faced with increasing health care costs, it is incumbent to discern whether managing dyslipidemia with medical nutrition therapy (MNT) by a registered dietitian nutritionist (RDN) is clinically and cost effective.

Objective: To systematically examine evidence on the clinical effectiveness and cost benefit of MNT by an RDN for the treatment of dyslipidemia.

Methods: English and full-text research articles published between January 2003 and October 2014 were identified using PubMed, MEDLINE, and the Worldcat.