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Condition: Disability
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Total 496 results found since Jan 2013.
A recurrent homozygous missense DPM3 variant leads to muscle and brain disease
This article is protected by copyright. All rights reserved.PMID:35932216 | DOI:10.1111/cge.14208
Source: Clinical Genetics - August 6, 2022 Category: Genetics & Stem Cells Authors: Sara Nagy Tracy Lau Shahryar Alavi Ehsan Ghayoor Karimiani Jalal Vallian Bobby G Ng Samaneh Noroozi Asl Javad Akhondian Amir Bahreini Omid Yaghini Prech Uapinyoying Carsten Bonnemann Hudson H Freeze Vajira H W Dissanayake Nirmala D Sirisena Miriam Schmidt Source Type: research
Atrial Myopathy and Dementia
Dementia is a leading cause of disability and death with an estimate of more than 50 million people living with the disease worldwide, a number that is projected to triple by 2050. Unlike Alzheimer disease, a degenerative condition without proven cure or treatment, vascular dementia is the second most common etiology and opens up opportunities for dementia prevention through treatment of known risk factors such as hypertension and atrial fibrillation (AF). The latter is a known risk factor for dementia through cerebral embolism and ischemic stroke primarily but also through nonstroke mechanisms. Thus, prevention, detection...
Source: JAMA - March 22, 2022 Category: General Medicine Source Type: research
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11
This article is protected by copyright. All rights reserved.PMID:34988992 | DOI:10.1111/cge.14108
Source: Clinical Genetics - January 6, 2022 Category: Genetics & Stem Cells Authors: Yi-Dan Liu Shu-Shu Huang Mei Li Monkol Lek Dan-Yu Song Dan-Dan Tan Xiao-Yu Chen Hong Zhang Jie-Yu Liu Xing-Zhi Chang Hui Xiong Source Type: research
Critical illness polyneuropathy and functional outcome in subjects with COVID-19: Report on four patients and a scoping review of the literature
We report here 4 COVID-19 subjects with intensive care unit-acquired weakness and their functional outcome. In addition, a scoping review of COVID-19 literature was performed to investigate this issue. Of the post-COVID-19 patients admitted to our Neuro-Rehabilitation Unit, 4 (3 males, 1 female; mean age 59.2±8.62 years) had intensive care unit-acquired weakness, diagnosed with electromyography. Muscle strength and functional evaluation were performed on all patients with Medical Research Council, Disability Rating Scale and Functional Independence Measure, respectively, at admission, discharge and 6-month follow-up. Elec...
Source: Journal of Rehabilitation Medicine - December 22, 2021 Category: Rehabilitation Authors: Domenico Intiso Antonello Marco Centra Antonio Giordano Andrea Santamato Luigi Amoruso Filomena Di Rienzo Source Type: research
