Genetics Home Reference: SYNGAP1-related intellectual disability

Source: NLM General Announcements - Category: Databases & Libraries Source Type: news

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In this study, we have used a novel DNAzyme based approach to create a larval model of FXS in zebrafish with specific focus on the early developmental window.MethodsFmr1specific DNAzymes were electroporated into embryos to create theknockdown. Changes in RNA and protein levels of FMRP and relevant biomarkers were measured in the 0-7dpf window. Behavioral tests to measure anxiety, cognitive impairments and irritability in the larvae were conducted at the 7dpf stage. Drug treatment was carried out at various time points in the 0-7dpf window to identify the critical window for pharmacological intervention.ResultsThe DNAzyme b...
Source: Journal of Pharmacological and Toxicological Methods - Category: Drugs & Pharmacology Source Type: research
Authors: Choi EY, Jang Y PMID: 31718235 [PubMed - as supplied by publisher]
Source: International Journal of Aging and Human Development - Category: Geriatrics Tags: Int J Aging Hum Dev Source Type: research
Authors: Hetherington S, Swinton P, Henwood T, Keogh J, Gardiner P, Tuckett A, Rouse K, Comans T Abstract In this article, the authors assessed the cost-effectiveness of center-based exercise training for older Australians. The participants were recipients of in-home care services, and they completed 24 weeks of progressive resistance plus balance training. Transport was offered to all participants. A stepped-wedge randomized control trial produced pre-, post-, and follow-up outcomes and cost data, which were used to calculate incremental cost-effectiveness ratios per quality-adjusted life year gained. Analyses wer...
Source: Journal of Aging and Physical Activity - Category: Geriatrics Tags: J Aging Phys Act Source Type: research
ConclusionOur results highlight rumination as a two-edged sword that reflects a disease-specific neuropathology but also points to a functionality of depressive symptoms with evolutionary meaning.
Source: Progress in Neuro Psychopharmacology and Biological Psychiatry - Category: Psychiatry Source Type: research
U.S. Department of Defense to welcome home disabled veterans and certain caregivers with Army and Air Force Exchange Service in-store shopping privileges
Source: Disabled World - Category: Disability Tags: Veterans Source Type: news
Abstract People with Down syndrome (DS) show dysfunction of gait, expressed by disturbed character of angular changes and values of the spatiotemporal parameters as compared to the physiological norm. It is known that exercises and various activities have positive effect on balance and gait, but there are only a few scientific proofs concerning above-mentioned in people with DS. Furthermore, the effect of Nordic Walking (NW) training on gait in people with DS is unexplored. We enrolled 22 subjects with DS, aged 25-40 years, with moderate intellectual disability. Participants were randomly divided into 2 groups: NW...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
The adult acquired flatfoot deformity resulting from posterior tibial tendon dysfunction is the result of rupture of the posterior tibial tendon as well as key ligaments of the ankle and hindfoot. Kinematic studies have verified certain levels of deformity causing hindfoot eversion, lowering of the medial longitudinal arch and forefoot abduction. The condition is progressive and left untreated will cause significant disability. Bracing with ankle-foot orthoses has shown promising results in arresting progression of deformity and avoiding debilitating surgery. Various types of ankle-foot orthoses have been studied in terms ...
Source: Clinics in Podiatric Medicine and Surgery - Category: Podiatry Authors: Source Type: research
CONCLUSION: This is the first nationwide epidemiologic study of pediatric sports-related TBI in Korea. The ratios of TBI, intracranial injury and admission were highest in bicycle and street sports. Prevention strategies for pediatric sports-related TBI can be developed according to sports types. PMID: 31726495 [PubMed - in process]
Source: J Korean Med Sci - Category: General Medicine Authors: Tags: J Korean Med Sci Source Type: research
UPMC Health Plan has reached a deal with a pharmaceutical company that will link reimbursement for two medications for multiple sclerosis to patient outcomes. Financial terms of the deal between UPMC Health Plan and Biogen (Nasdaq: BIIB) for Tecfidera and Avonex weren't announced. But this value-based agreement, the first of its kind, provides for reimbursement based on how well the drug keeps patients from further disability. Previous contracts have be en tied to health records and claims data. Yet…
Source: bizjournals.com Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news
Low back pain and neck pain are the first and fourth leading causes, respectively, of years lived with disability. The treatment of intervertebral disk degeneration remains a significant challenge. While there are still many obstacles to overcome, the use of stem cells for the treatment of disk degeneration has emerged as one of the most promising and exciting techniques to restore the structure and function of the degenerated disk. The use of stem cells in treating intervertebral disk disease as well as the obstacles that remain are reviewed here in an evidence-based manner.
Source: Techniques in Orthopaedics - Category: Orthopaedics Tags: Symposium Source Type: research
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