Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.

CONCLUSIONS: Clinical application of CMA as a first-tier test improves diagnostic yields and the quality of clinical management in patients with DD/ID, ASD, and MCA. PMID: 30623622 [PubMed - in process]
Source: Annals of Laboratory Medicine - Category: Laboratory Medicine Tags: Ann Lab Med 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
We report the human induced pluripotent stem cell line (iPSC) CSUASOi002-A, generated from urine-derived cells (UCs) from a 51-year-old female patient carrying compound heterozygous mutations (c.62_63delTinsGA and c.C892T) in the carbohydrate sulfotransferase 6 gene (CHST6). This patient was from a Chinese family of three siblings with macular corneal dystrophy (MCD). Patient UCs were reprogrammed by electroporation using the episomal plasmids (OCT4, SOX2, KLF4, L-MYC, LIN28 and shP53). The human MCD-UiPS cell line CSUASOi002-A retained the disease-associated genotype, while expressed pluripotent stem cell markers and coul...
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: Neurochemistry InternationalAuthor(s): Lucio G. Costa, Toby B. Cole, Khoi Dao, Yu-Chi Chang, Jacqueline M. GarrickAbstractAir pollution is an important contributor to the global burden of disease, particularly to respiratory and cardiovascular diseases. In recent years, evidence is accumulating that air pollution may adversely affect the nervous system as shown by human epidemiological studies and by animal models. Age appears to play a relevant role in air pollution-induced neurotoxicity, with growing evidence suggesting that air pollution may contribute to neurode...
Source: Neurochemistry International - Category: Neuroscience 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
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
Authors: Jackson A Abstract The United States' entry into the First World War prompted progressives to reform veterans' entitlements in the hopes of creating a system insulated from corruption and capable of rehabilitating disabled veterans into productive members of society. The replacement of pensions with medical care for wounded and disabled soldiers through the Reconstruction Hospital System was originally intended as a temporary measure but resulted in establishing the foundations of the modern veterans' health care system. Yet, these reforms would not have been possible without the support from the community...
Source: Journal of the Medical Library Association : JMLA - Category: Databases & Libraries Tags: J Med Libr Assoc Source Type: research
By putting our bodies on the line and risking our liberty, we make this great neglected issue impossible to ignoreA few hours after this column is published, I hope to be in a police cell. I don ’t yet know what the charge will be, where I will be arrested or when, but I know that if I go home this evening without feeling the hand of the law on my sleeve, I will have failed. This may sound like a strange ambition, but I believe it is a reasonable one.Related:The climate revolution must be accessible – this fight belongs to disabled people too | Hannah DinesContinue reading...
Source: Guardian Unlimited Science - Category: Science Authors: Tags: Environmental activism Climate change Science Protest World news Extinction Rebellion Source Type: news
In this study, the stereotyped behaviors and cognitive functions related to different types of tactile and auditory inputs were investigated in the rats following chronic exposure to the morphine, methadone, and buprenorphine. Here, three addicted groups received morphine, methadone, and buprenorphine while the control rats received saline for 21 days. Our results demonstrated that the opioid-treated groups showed stereotyped behaviors including grooming and rearing. In the behavioral level, prepulse inhibition and preference indices were not changed significantly in the opioids-treated groups compared to those of the sali...
Source: Physiology and Behavior - Category: Physiology Source Type: research
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