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Total 140 results found since Jan 2013.
Nemaline Rod/Cap Myopathy Due to Novel Homozygous < em > MYPN < /em > Mutations: The First Report from South Asia and Comprehensive Literature Review
CONCLUSIONS: This study elaborates on two patients with homozygous MYPN pathogenic variants, presenting as slowly progressive congenital myopathy. These patients are only the tenth and eleventh cases reported in the English literature, and the first from South Asia. The clinical phenotype reiterates the mild form of nemaline rod/cap myopathy. A comprehensive literature review is presented.PMID:34184449 | PMC:PMC8242322 | DOI:10.3988/jcn.2021.17.3.409
Source: Journal of Clinical Neurology - June 29, 2021 Category: Neurology Authors: Kiran Polavarapu Mainak Bardhan Ram Murthy Anjanappa Seena Vengalil Veeramani Preethish-Kumar Leena Shingavi Tanushree Chawla Saraswati Nashi Dhaarini Mohan Gautham Arunachal Thenral S Geetha Vedam Ramprasad Atchayaram Nalini Source Type: research
Clinical and molecular characterization of seven patients with Danon disease
Exp Ther Med. 2021 Apr;21(4):395. doi: 10.3892/etm.2021.9826. Epub 2021 Feb 24.ABSTRACTDanon disease is an X-linked glycogen storage disease characterized by skeletal myopathy, cardiomyopathy and intellectual impairment. It is caused by a loss-of-function mutation in the lysosome-associated membrane protein-2 (LAMP2) gene. In the present study, exon and boarding intron analysis of 96 cardio disease-associated genes was performed in 770 patients with hypertrophic cardiomyopathy (HCM) using second-generation sequencing. Next, the identified mutations were confirmed in family members of the patients and 300 healthy controls. ...
Source: Experimental and Therapeutic Medicine - March 8, 2021 Category: General Medicine Authors: Xuan-Ying Wang Bo Wang Xiao-Li Zhu Zhi-Ling Ma Ying Liu Chang-Hui Lei Qian-Li Yang Dan Hu Xue-Li Zhao Zhi-Rong Liu Li-Wen Liu Source Type: research
Subclinical Cardiomyopathy in Miyoshi Myopathy Detected by Late Gadolinium Enhancement Cardiac Magnetic Resonance Imaging.
We present a case of a patient with MM incidentally diagnosed with concomitant cardiomyopathy.
PMID: 33518658 [PubMed - in process]
Source: International Heart Journal - February 2, 2021 Category: Cardiology Tags: Int Heart J Source Type: research
The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.
Authors: Wang Q, Zhao Z, Shen H, Bing Q, Li N, Hu J
Abstract
To explore the clinical and genetic characteristics of five families with primary periodic paralysis (PPP). We reviewed clinical manifestations, laboratory results, electrocardiogram, electromyography, muscle biopsy, and genetic analysis from five families with PPP. Five families with PPP included: hypokalemic periodic paralysis type 1 (HypoPP1, CACNA1S, 1/5), hypokalemic periodic paralysis type 2 (HypoPP2, SCN4A, 2/5), normokalemic periodic paralysis (NormoPP, SCN4A, 1/5), and Andersen-Tawil syndrome (ATS, KCNJ2, 1/5). The basic clinical manifestations o...
Source: Channels - December 22, 2020 Category: Molecular Biology Tags: Channels (Austin) Source Type: research
Safety management in treatment with antimalarials in rheumatology. Interdisciplinary recommendations on the basis of a systematic literature review.
CONCLUSION: The updated recommendations on AM treatment in rheumatology in particular include a more rigorous measuring of doses, risk stratification in monitoring and defined ophthalmological examination methods to detect a possible retinopathy.
PMID: 32236844 [PubMed - as supplied by publisher]
Source: Zeitschrift fur Rheumatologie - March 30, 2020 Category: Rheumatology Authors: Fiehn C, Ness T, Weseloh C, Specker C, Hadjiski D, Detert J, Krüger K, DGRh Kommission Pharmakotherapie Tags: Z Rheumatol Source Type: research
Safety management of the treatment with antimalarial drugs in rheumatology. Interdisciplinary recommendations based on a systematic literature search.
CONCLUSION: The updated recommendations on AM treatment in rheumatology in particular include a more rigorous measuring of doses, risk stratification in monitoring and defined ophthalmological examination methods to detect a possible retinopathy.
PMID: 32095892 [PubMed - as supplied by publisher]
Source: Zeitschrift fur Rheumatologie - February 23, 2020 Category: Rheumatology Authors: Fiehn C, Ness T, Weseloh C, Specker C, Hadjiski D, Detert J, Krüger K, Kommission Pharmakotherapie der DGRh Tags: Z Rheumatol Source Type: research
