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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CONCLUSIONS: Neonatal screening with the red reflex is not sufficient to detect intraocular disease. A normal neonatal red reflex does no exclude intraocular disease. It has a specificity of nearly 90%, but its sensitivity is only 56%. Most retinal haemorrhages are undiagnosed as they cannot be detected with a red reflex. PMID: 31826811 [PubMed - as supplied by publisher]
Source: Archivos de la Sociedad Espanola de Oftalmologia - Category: Opthalmology Tags: Arch Soc Esp Oftalmol Source Type: research
ConclusionThis study shows that NHs within our region are an important reservoir of ESBLE, whereas no residents were CPE carrier. ESBLE control in NHs should focus on antibiotic stewardship and excreta management policies.
Source: Journal of Hospital Infection - Category: Infectious Diseases Source Type: research
Shares of Sarepta Therapeutics Inc soared 36% on Friday after U.S. regulators shocked Wall Street by approving the company's treatment for a muscle-wasting disorder less than four months after rejecting the drug over safety concerns.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
Publication date: Available online 13 December 2019Source: Revista Portuguesa de Cardiologia (English Edition)Author(s): Bruno M.L. Rocha, Rita V. Gomes, Gonçalo J.L. Cunha, Beatriz M.V. Silva, Rita Pocinho, Rui Morais, Inês Araújo, Cândida FonsecaAbstractSyncope is defined as a transient loss of consciousness due to global cerebral hypoperfusion and is one of the leading causes of emergency department admission. The initial approach should focus on excluding non-syncopal causes for loss of consciousness and risk stratification for a cardiac cause, in order to ensure an appropriate etiological inv...
Source: Revista Portuguesa de Cardiologia - Category: Cardiology Source Type: research
Publication date: Available online 13 December 2019Source: Autoimmunity ReviewsAuthor(s): Anne Laure Roupie, Hubert de Boysson, Sara Thietart, Fabrice Carrat, Julie Seguier, Louis Terriou, Mathilde Versini, Viviane Queyrel, Matthieu Groh, Ygal Benhamou, Francois Maurier, Olivier Decaux, Maud d'Aveni, Julien Rossignol, Joris Galland, Eric Solary, Lise Willems, Nicolas Schleinitz, Lionel Ades, Azeddine DellalAbstractIntroductionMyelodysplastic syndromes (MDS) and MDS/myeloproliferative neoplasms (MDS/MPN) can be associated with giant cell arteritis (GCA). In this nationwide study by the “French Network of dysimmune dis...
Source: Autoimmunity Reviews - Category: Allergy & Immunology Source Type: research
ConclusionA characteristic clinic-pathological pattern, including a myasthenia gravis-like syndrome plus myositis was found in patients receiving PD-1 and PD-1 L inhibitors. A large component of macrophages resembling granulomas seems to be the pathological hallmark of the syndrome. Further information is required to understand the wide spectrum of immune-related adverse events involving the muscle during or after treatment with anti-PD-1 inhibitors, but the pathological picture seems to be characteristic.
Source: Autoimmunity Reviews - Category: Allergy & Immunology Source Type: research
Publication date: February 2020Source: Research in Developmental Disabilities, Volume 97Author(s): Claire Gosse, Marie Van ReybroeckAbstractSeveral studies have demonstrated that children with dyslexia frequently show poor and slow handwriting skills. It is not clear whether these difficulties are a consequence of their spelling deficit or if they arise from graphomotor difficulties. The present study aims to test the hypothesis of the presence of handwriting difficulties in dyslexia, through the investigation of the impact of graphic and orthographic complexity of words on writing. Participants were all monolingual French...
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
Golodirsen is the first treatment for Duchenne muscular dystrophy (DMD) in patients with a confirmed mutation amenable to exon 53 skipping.FDA Approvals
Source: Medscape Neurology and Neurosurgery Headlines - Category: Neurology Tags: Neurology & Neurosurgery News Alert Source Type: news
Foodborne Pathogens and Disease, Ahead of Print.
Source: Foodborne Pathogens and Disease - Category: Food Science Authors: Source Type: research
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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