Congenital centronuclear myopathy and epidermolysis bullosa due to two novel mutations in the plectin gene

We report on a Turkish patient with congenital myopathy with a fiber type disproportion and central myonuclei comparable to a centronuclear myopathy and skin blistering (epidermolysis bullosa simplex, EBS) due to a novel homozygous mutation in the plectin gene, a cytoskeleton-membrane anchorage protein. So far, EBS has only been described to be associated with congenital or limb girdle muscular dystrophy, myasthenic syndrome, or pyloric atresia. A clubfoot and hypotonia were noted directly at birth, skin blistering was identified shortly after cast treatment of the foot malposition.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research

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Conclusion: This study confirm that EMA are common in all MS phenotypes, even at the earliest stages. VOG can be useful to detect demyelinating process at preclinical stage by highlighting subclinical EMA even in absence of characteristic lesions visible on MRI.
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
Conditions:   Cerebral Palsy;   Brachial Plexus Palsy Interventions:   Behavioral: Hand-Use-at-Home Questionnaire (HUH);   Behavioral: Pediatric Outcome Data Collection Instrument (PODCI);   Behavioral: Children's Hand-Use Experience Questionnaire (CHEQ) Sponsor:   Marmara University Recruiting
Source: - Category: Research Source Type: clinical trials
Pericardial effusion is often detected in patients with Infective endocarditis. Incidence can be as high as 25% . Most often it is mild, can be moderate in few. Mechanism Sympathetic effusion in response to endocardial infection. It’s never more than minimal. (Evidence ? it’s only an assumption) IE related cardiac failure (Raised systemic venous pressure to which pericardial veins drain) Local sepsis, Abcess formation tracks to pericardial space through transmural lymphatics Fungal , granulomatous , Tuberculous IE (Rare) Here IE and PE  share the same pathology Part of systemic sepsis activated Immun...
Source: Dr.S.Venkatesan MD - Category: Cardiology Authors: Tags: cardiology -Therapeutics Cardiology -unresolved questions Infrequently asked questions in cardiology (iFAQs) pericardial disease pericardial effusion Pericardium infective endocarditis pericardial effusion in infective endocarditis Source Type: blogs
Authors: Leotard A, Lebret M, Prigent H, Arnol N, Pépin JL, Hartley S, Lofaso F, Borel JC Abstract In subjects with neuromuscular diseases (NMD), the choice of facemask is essential for successful long-term noninvasive ventilation (NIV). While nasal masks usually represent the first line of treatment, almost a third of our subjects with NMD use an oro-nasal interface. Factors associated with the choice of mask remain poorly understood. We provide an original analysis of a previous prospective, multi-centric, Franco-Belgian survey investigating the factors associated with the type of nocturnal mask used in 11...
Source: Revue des Maladies Respiratoires - Category: Respiratory Medicine Tags: Rev Mal Respir Source Type: research
CONCLUSION: In the present study aiming to assess the real-life outcome of pazopanib-treated patients, we found that pazopanib is efficient in metastatic uterine sarcoma, and our results correspond to the literature. PMID: 31983102 [PubMed - in process]
Source: Journal of B.U.ON. - Category: Cancer & Oncology Tags: J BUON Source Type: research
UCLA researchers are part of an international team that reported the use of a stem cell gene therapy to treat nine people with the rare, inherited blood disease known as X-linked chronic granulomatous disease, or X-CGD. Six of those patients are now in remission and have stopped other treatments. Before now, people with X-CGD – which causes recurrent infections, prolonged hospitalizations for treatment, and a shortened lifespan – had to rely on bone marrow donations for a chance at remission.“With this gene therapy, you can use a patient’s own stem cells instead of donor cells for a transplant,&rdqu...
Source: UCLA Newsroom: Health Sciences - Category: Universities & Medical Training Source Type: news
This study provides preliminary evidence for the role of right TPJ functioning in empathy-related psychophysiological and affective responding, potentially blurring the distinction between neural regions specific to social cognition vs. affective aspects of empathy.
Source: Frontiers in Human Neuroscience - Category: Neuroscience Source Type: research
AbstractBackgroundResistance-training causes changes in the central nervous system (CNS); however, the sites of these adaptations remain unclear.ObjectiveTo determine sites of neural adaptation to resistance-training by conducting a systematic review and meta-analysis on the cortical and subcortical responses to resistance-training.MethodsEvidence from randomized controlled trials (RCTs) that focused on neural adaptations to resistance-training was pooled to assess effect estimates for changes in strength, cortical, and subcortical adaptations.ResultsThe magnitude of strength gain in 30 RCTs (n  =  623) repor...
Source: Sports Medicine - Category: Sports Medicine Source Type: research
Condition:   Miyocardial Infarction Intervention:   Other: no intervention Sponsors:   Turkish Society of Cardiology;   AstraZeneca Recruiting
Source: - Category: Research Source Type: clinical trials
New research funded in part by NCCIH suggests that stress-induced hair graying in mice may be an accessible model to investigate how stress influences tissue regeneration. Read about it here.
Source: NCCAM Featured Content - Category: Complementary Medicine Authors: Source Type: news
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