De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder. Here, we report the identification of 19 individuals with heterozygous POU3F3 disruptions, most of which are de novo variants. All individuals had developmental delays and/or intellectual disability and impairments in speech and language skills. Thirteen individuals had characteristic low-set, prominent, and/or cupped ears.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Report Source Type: research

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Publication date: Available online 19 September 2019Source: Multiple Sclerosis and Related DisordersAuthor(s): D Marengo, R Rosato, G Gamberini, P Cavalla, M Gironi, F Patti, L Prosperini, C SolaroAbstractBackgroundThe Multiple Sclerosis Walking Scale (MSWS-12) has showed good psychometric properties in reports exploring its validity using Classical Test Theory methods. Findings from recent studies using Item Response Theory methods advance the idea that some aspects of the MSWS-12 does not fully comply with some requirements of sound measurement.Research questionThe present study investigated whether the measurement prope...
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
ConclusionsThis study is the first to investigate possible lncRNA biomarkers to differentiate phenotypic severity in MS. Although the findings are preliminary based on our small sample size, they are sufficient to identify hypotheses for future investigation, and give guidance regarding the design of future studies.
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
Conclusions: Many patients with rheumatic conditions (especially fibromyalgia) face long delays before receiving services in Quebec's MPTF. This study identified several factors associated with waiting time and emphasizes the need to improve access to pain management services. PMID: 31534361 [PubMed]
Source: Pain Physician - Category: Anesthesiology Authors: Tags: J Pain Res Source Type: research
CONCLUSION: Current state of knowledge makes the usage of cholesterol markers of cognitive decline in clinical practice impossible. PMID: 31530269 [PubMed - as supplied by publisher]
Source: Current Aging Science - Category: Geriatrics Tags: Curr Aging Sci Source Type: research
Discussion: The MP is a promising tool for increasing patient mobility in the nonintensive care GM and GS setting, while potentially decreasing the need for PAC rehabilitation for many patients with minimal mobility deficits. Although not all of the results were statistically significant, positive effects on hospital ratings show promise toward helping to improve the overall patient experience during admission, decreasing LOS, decreasing overall fall rate, and an associated decrease in GM patient PAC spending in those most likely to be affected by HAD related to immobility. These positive effects can potentially improve ...
Source: The Journal of Acute Care Physical Therapy - Category: Physiotherapy Tags: Original Studies Source Type: research
FRIDAY, Sept. 20, 2019 -- Women who suffer from anemia early in pregnancy are at risk for having a child with autism, attention-deficit/hyperactivity disorder (ADHD) and intellectual disabilities, a study by Swedish researchers suggests. The study...
Source: Drugs.com - Daily MedNews - Category: General Medicine Source Type: news
CONCLUSION: Different forms of discrimination are associated with PEs in the general population. As discrimination is common at the societal level, this highlights the importance of public policy and evidence-based interventions to reduce discrimination and improve population mental health. PMID: 31527013 [PubMed - as supplied by publisher]
Source: Journal of the Association of European Psychiatrists - Category: Psychiatry Tags: Eur Psychiatry Source Type: research
CONCLUSION: There is convincing evidence to demonstrate a causal relationship between bullying victimisation and mental disorders. This study showed that bullying victimisation contributes a significant proportion of the burden of anxiety and depressive disorders. The investment and implementation of evidence-based intervention programmes that reduce bullying victimisation in schools could reduce the burden of disease arising from common mental disorders and improve the health of Australians. PMID: 31533868 [PubMed - as supplied by publisher]
Source: Epidemiology and Psychiatric Sciences - Category: Psychiatry Tags: Epidemiol Psychiatr Sci Source Type: research
Tech companies like Google are stepping up efforts to make their products accessible to people living with disabilities.
Source: CBC | Health - Category: Consumer Health News Tags: News/Canada/Toronto Source Type: news
Abstract From the time it was conceptualized in 1998 to the present, RNAS+ has largely concentrated on research that will generate results to facilitate control, prevention and elimination of its target diseases. Diagnostics has remained an active field of research in order to develop tools that are appropriate for each stage from the first efforts until attempts to block transmission. For example, with regard to schistosomiasis, chemotherapy has excellent impact on morbidity, while better diagnostics and vaccine research have been promoted to complement the other components of the control programme. The need for ...
Source: Advances in Parasitology - Category: Parasitology Authors: Tags: Adv Parasitol Source Type: research
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