First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

Conclusions: We identified a de novo KCND3 mutation causing the most marked change in Kv4.3’s channel properties reported so far, which correlated with a severe and unique spinocerebellar ataxia (SCA) type 19/22 disease phenotype.
Source: BioMed Central - Category: Journals (General) Authors: Source Type: research

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Publication date: Available online 15 October 2019Source: Stem Cell ResearchAuthor(s): Tomoyuki Kurose, Shinya Takahashi, Takashi Otsuka, Kei Nakagawa, Takeshi Imura, Taijiro Sueda, Louis YugeAbstractSpinal cord ischemia is a potential complication of thoracoabdominal aortic surgery that may induce irreversible motor disability. We investigated the therapeutic efficacy of simulated microgravity-cultured mesenchymal stem cell (MSC) injection following spinal cord ischemia−reperfusion injury. Sprague-Dawley rats were divided into sham, phosphate-buffered saline (PBS), normal gravity-cultured MSC (MSC-1G), and simulated...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Publication date: Available online 15 October 2019Source: Stem Cell ResearchAuthor(s): Nina V. Fuchs, Maximilian Schieck, Michaela Neuenkirch, Christiane Tondera, Heike Schmitz, Vincent des Portes, David Germanaud, Doris Steinemann, Gudrun Göhring, Renate KönigAbstractThe Renpenning syndrome spectrum is a rare X-linked mental retardation syndrome characterized by intellectual disability, microcephaly, low stature, lean body and hypogonadism. Mutations in the polyglutamine tract binding protein 1 (PQBP1) locus are causative for disease. Here, we describe the generation of an iPSC line from a patient mutated in the...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Publication date: Available online 15 October 2019Source: International Review of NeurobiologyAuthor(s): Douglas B. Matthews, Amelia Schneider, Abigail Kastner, Samantha Scaletty, Rachel SzenayAbstractThe population of most countries is increasing and the United Nations predicts that by the year 2050 those over the age of 60 years old will increase from 900 million individuals to approximately 2.1 billion individuals (United Nations, 2015). The increase in the number of older individuals will place a strain on many national health care systems making it important to investigate behaviors in the aged that may negatively imp...
Source: International Review of Neurobiology - Category: Neuroscience Source Type: research
Publication date: Available online 15 October 2019Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Carmen De Caro, Luigi Francesco Iannone, Rita Citraro, Pasquale Striano, Giovambattista De Sarro, Andrew Constanti, John F. Cryan, Emilio RussoAbstractThe gut-microbiota, the complex intestinal microbial ecosystem essential to health, is an emerging concept in medicine. Several studies demonstrate a microbiota-gut-brain bidirectional connection via neural, endocrine, metabolic and immune pathways. Accordingly, the gut microbiota has a crucial role in modulating intestinal permeability, to alter local/peripheral immun...
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
A mindfulness-based intervention appears feasible, acceptable, and effective in children with attention-deficit/hyperactivity disorder, early research suggests.Medscape Medical News
Source: Medscape Psychiatry Headlines - Category: Psychiatry Tags: Psychiatry News Source Type: news
Conclusions: Stress should be considered among other problems related to ADHD. Psychoeducation about stress, stress managing techniques and coaching should be included in the treatment of adolescents with ADHD. PMID: 31613179 [PubMed - as supplied by publisher]
Source: Nordic Journal of Psychiatry - Category: Psychiatry Tags: Nord J Psychiatry Source Type: research
Authors: Penzenstadler L, Molodynski A, Khazaal Y Abstract Objectives: The Convention on the Rights of Persons with Disabilities (CRPD) was adopted at the United Nations Assembly in 2006. The main aim of the convention is to ensure equal rights for people with disabilities including the expression of people's own "will and preferences" concerning health treatment. Article 12 demands the respect of a person's "rights, will and preferences" (CRPD) and suggests supported decision making (SDM) when possible. The aim of this review was to gather information regarding the SDM implementation from a cli...
Source: International Journal of Psychiatry in Clinical Practice - Category: Psychiatry Tags: Int J Psychiatry Clin Pract Source Type: research
In this study, we show that hyperactivation of Mpk1 in a ptp2 ptp3 null mutant is an indirect consequence of Hog1 hyperactivation, which induces accumulation of intracellular glycerol and an attendant hypo-osmotic stress. Mpk1 hyperactivity in the absence of PTP2 and PTP3 was suppressed by a hog1 null mutation, or by restoration of osmotic balance with a constitutive form of the glycerol channel Fps1. We found similarly that activation of Mpk1 in response to zymolyase treatment is partly a consequence of Hog1-driven glycerol accumulation. Thus, we have identified two conditions in which glycerol serves as a mediator of cro...
Source: Fungal Biology - Category: Biology Source Type: research
Conclusions: Six commonly used anxiety scales demonstrate similar responsiveness, and estimated MIDs can be used to gauge anxiety change in clinical research and practice.
Source: Medical Care - Category: Health Management Tags: Original Articles Source Type: research
PURPOSE: To investigate the association between plasma levels of inflammatory cytokines (interleukin [IL]-1- β, IL-6, tumor necrosis factor [TNF]-α, and the soluble TNF receptor 1 [sTNF-R1]), disability, and risk of falls in older women with acute low bac...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Elder Adults Source Type: news
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