P.252LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

Plectin is a giant multifunctional cytolinker protein (500 kDa) expressed in several tissues with essential roles in striated and smooth muscles, epithelia and nerve. It is a component of hemidesmosomes, desmosomes and focal adhesion contacts where it interacts with actin and intermediate filaments. Pathogenic variants in the PLEC1 gene lead to a group of diseases including epidermolysis bullosa (simplex ogna with or without muscular dystrophy, myasthenic syndrome, or pyloric atresia) and isolated limb-girdle muscular dystrophy.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research

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Authors: Reissier S, Cattoir V Abstract INTRODUCTION: Streptogramins (pristinamycin and quinupristin-dalfopristin) can be interesting options for the treatment of infections due to Gram-positive cocci, especially multidrug-resistant isolates. AREAS COVERED: This review provides an updated overview on structural and activity characteristics, mechanisms of action and resistance, pharmacokinetic/pharmacodynamic and clinical use of streptogramins. EXPERT OPINION: The streptogramin antibiotics act by inhibition of the bacterial protein synthesis. They are composed of two chemically distinct compounds, namely typ...
Source: Expert Review of Anti-Infective Therapy - Category: Infectious Diseases Tags: Expert Rev Anti Infect Ther Source Type: research
Authors: Bergland OU, Søraas CL, Larstorp ACK, Halvorsen LV, Hjørnholm U, Hoffman P, Høieggen A, Fadl Elmula FEM Abstract PURPOSE: The blood pressure (BP) lowering effect of renal sympathetic denervation (RDN) in treatment-resistant hypertension shows variation amongst the existing randomised studies. The long-term efficacy and safety of RDN require further investigation. For the first time, we report BP changes and safety up to 7 years after RDN, compared to drug adjustment in the randomised Oslo RDN study. MATERIALS AND METHODS: Patients with treatment-resistant hypertension, defined...
Source: Blood Pressure - Category: Hematology Tags: Blood Press Source Type: research
Conclusions: The study ’s findings support the efficacy of tube weaning based on the published “Graz model of tube weaning” for children born with EA/TEF and indicate the necessity of specialized tube weaning programs for these patients.What is Known:• Children with esophageal atresia/tracheoesophageal fistula often suffer from feeding problems and tube dependency.• Different tube weaning programs and outcomes have been published, but not specifically for children with EA.What is New:• Evaluation of a large sample of children referred for tube weaning after EA repair.• Most children wi...
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research
Authors: Pancheri E, Bertolasi L, Tonin P, Vattemi G PMID: 33029985 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
CONCLUSIONS: Neuro-ophthalmologic findings are mostly normal in patients with visual snow syndrome. Retinal or neurological diseases must be excluded as possible causes of visual snow. PMID: 33029971 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
In conclusion, the presence of anti-SOX1 abs alone is a potential predictor of an uncommon paraneoplastic neurological disorder, usually occurring in the setting of LEMS, PCD, and SCLC. The detection of anti-SOX1 abs contributes to an early diagnosis of underlying tumors, given the diversity of clinical symptoms and the absence of characteristic neuroimaging features. PMID: 33029958 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
CONCLUSION: When gastroenterologists encounter NAFLD/NASH patients, serum CK should be verified. If hyperCKemia, frontal baldness, a hatched face, history of cataract surgery, and grip myotonia are noted, the possibility of MD may be considered. PMID: 33033573 [PubMed]
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Publication date: Available online 9 October 2020Source: Brazilian Journal of Anesthesiology (English Edition)Author(s): Hande Gurbuz Aytuluk, Kemal Tolga Saracoglu
Source: Brazilian Journal of Anesthesiology - Category: Anesthesiology Source Type: research
Welcome back to the Evening Standard’s LIVE coverage of the 2020 French Open. Sofia Kenin and Iga Swiatek will face each other in...
Source: Reuters: Health - Category: Consumer Health News Source Type: news
Plectin, a giant multifunctional cytolinker protein, plays a crucial role in orchestrating intermediate filament networks in a wide variety of tissues, as epithelia, skeletal muscle and heart. Mutations of the plectin gene (PLEC) on chromosome 8q24 cause autosomal recessive epidermolysis bullosa simplex with muscular dystrophy (EBS-MD), EBS-MD with myasthenic features, EBS with pyloric atresia, EBS-Ogna, and LGMD2Q. Here we report an Italian family with a distinctive muscle phenotype and autosomal recessive transmission in which Whole Exome Sequencing identified homozygous mutations in PLEC gene.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
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