A novel PLEC nonsense homozygous mutation (c.7159G  >  T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report

Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakne...
Source: BMC Dermatology - Category: Dermatology Authors: Tags: Case report 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
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
CONCLUSIONS: In comparison with ABP alone, BEV combined with ABP applied in the treatment of platinum-resistant recurrent ovarian cancer prominently improves the clinical efficacy, PFS and OS, with good tolerance of patients, which is worthy of popularization and application in clinical practice. PMID: 31983098 [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
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
This study aimed to test the feasibility of nBR elicited by intraoral stimulation, compar e intraoral and extraoral nBR and assess the intrarater and interrater reliability of the intraoral nBR for the maxillary (V2) and mandibular (V3) branches of the trigeminal nerve.Materials and methodsIn 17 healthy participants, nBR was elicited by stimulation of two extraoral and two intraoral sites by two operators and repeated intraorally by one operator. Main outcome variables were intraoral stimulus-evoked pain scores and nBR R2 responses at different stimulus intensities. Intraclass correlation coefficients (ICC) were used to as...
Source: Clinical Oral Investigations - Category: Dentistry Source Type: research
(Technical University of Munich (TUM)) Duchenne type muscular dystrophy (DMD) is the most common hereditary muscular disease among children, leaving them wheelchair-bound before the age of twelve and reducing life expectancy. Researchers at Technical University of Munich (TUM), Ludwig Maximilian University of Munich (LMU) and the German Research Center for Environmental Health (Helmholtz Zentrum M ü nchen) have developed a gene therapy that may provide permanent relief for those suffering from DMD.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
More News: Alopecia | Dermatology | Epidermolysis Bullosa | Muscular Dystrophy | Reflex Sympathetic Dystrophy | Skin