A novel OPTN variant causing PSP-CBS-like phenotype in familial amyotrophic lateral sclerosis

We describe two siblings with a novel OPTN mutation and atypical parkinsonian phenotype.
Source: Parkinsonism and Related Disorders - Category: Neurology Authors: Tags: Correspondence Source Type: research

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We reported an isolated case and 1 family with several individuals affected by CS. The isolated case showed typical features including fibrocystic breast disease, benign thyroid nodules, and multiple papillomatous lesions in the face and oral cavity and was caused by a novel nonsense mutation (c.940 G>T) in the PTEN gene. In the family, the proband showed erythema nodosum, duodenal ulcer, intestinal polyps, cervical lipoma, renal cysts, and glaucoma, whereas her family revealed multiple members with intestinal polyps and a sister with breast cancer diagnosed at early age.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - Category: ENT & OMF Authors: Source Type: research
Development of devices comes as the search for treatments to slow or cure Alzheimer’s and other neurocognitive conditions seems to have stalled.
Source: Washington Post: To Your Health - Category: Consumer Health News Authors: Source Type: news
CONCLUSIONS The results suggest that by regulating the expression of BMPs, ANGPTL7 directly promotes proliferation, differentiation, and mineralization of osteoblasts. PMID: 31835268 [PubMed - in process]
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
CONCLUSION: The present study provides detailed estimates for AACG incidence according to all age groups and gender through the 5-year study period. PMID: 31833263 [PubMed - in process]
Source: Journal of Korean Medical Science - Category: Biomedical Science Tags: J Korean Med Sci Source Type: research
CONCLUSION: Despite differences between adults with SCI and adults with CVD in several demographic and health-related measures, the overall similarity in PARs for SCI and CVD suggests potential benefits from using effective CVD interventions to address SCI. PMID: 31835014 [PubMed - in process]
Source: Public Health Reports - Category: International Medicine & Public Health Tags: Public Health Rep Source Type: research
We describe various retinal image datasets that can be used for deep learning purposes. Applications of deep learning for segmentation of optic disk, optic cup, blood vessels as well as detection of lesions are reviewed. Recent deep learning models for classification of diseases such as age-related macular degeneration, glaucoma, and diabetic retinopathy are also discussed. Important critical insights and future research directions are given.
Source: Artificial Intelligence in Medicine - Category: Bioinformatics Source Type: research
We examined 28 ALS patients and 27 age-matched healthy controls. ALS patients and healthy controls underwent the nine hole peg test (NHPT) and TMS with RMT. Measurements in patients were repeated after three and six months. Results: At baseline, the median NHPT durations were 1,4-fold longer (p
Source: Neurology Research International - Category: Neurology Tags: Neurol Res Int Source Type: research
ConclusionPhysical exercise can reduce global cognitive decline and lessen behavioural problems in people with MCI or dementia. Its benefits on cognitive function can be primarily attributed to its effects on working memory. Aerobic exercise at moderate intensity or above and a total training duration of> 24 hours can lead to a more pronounced effect on global cognition.
Source: Journal of Physiotherapy - Category: Physiotherapy Source Type: research
The holidays bring friends and family together for celebrations and the chance to reconnect with people we may not see regularly during the rest of the year. But for people who are the caregivers for a parent, spouse, partner, or other family member who is living with Alzheimer ’s disease or other forms of dementia, the […]Find jobs at  Careers by KevinMD.com.  Search thousands of physician, PA, NP, and CRNA jobs now.  Learn more.
Source: Kevin, M.D. - Medical Weblog - Category: General Medicine Authors: Tags: Conditions Geriatrics Source Type: blogs
Authors: Yoon JY, Sung KR, Yun SC, Shin JW Abstract PURPOSE: To explore the progressive change and associated factors of optic disc tilt in young myopic glaucomatous eyes by analyzing long-term follow-up data. METHODS: Optic disc images were obtained from spectral-domain optical coherence tomography enhanced depth imaging from at least five different visits. At each visit, the disc tilt angle (DTA), defined as the angle between the Bruch's membrane opening plane and the optic canal plane, was estimated at the central frame that passes through the optic disc. Glaucoma progression was assessed on the basis of cha...
Source: Korean Journal of Ophthalmology : KJO - Category: Opthalmology Tags: Korean J Ophthalmol Source Type: research
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