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DPP-4 Inhibitors in Combination with Lipid-Lowering Agents and Risk of Serious Muscular Injury: A Nested Case-Control Study in a Nationwide Cohort of Patients with Type 2 Diabetes Mellitus
ConclusionIn this study, DPP-4 inhibitor use was not associated with an increased risk of serious muscular injury among patients with type 2 diabetes mellitus using statins or fibrates.
Source: Drug Safety - April 17, 2020 Category: Drugs & Pharmacology Source Type: research

Epidemiology of juvenile dermatomyositis in Alsace.
Abstract Juvenile dermatomyositis (JDM) is a rare inflammatory myopathy. 1 Little reliable data is available on epidemiology of JDM.This is an observational, retrospective, multicenter study, using the capture-recapture method to assess incidence and prevalence of JDM in Alsace, a French region with a low migratory rate. Only patients, aged 0 to 16 years, having JDM according to the Bohan and Peter criteria 2 and the EULAR/ACR criteria 3 , were included. Overlap syndromes were excluded. Seven sources were used: hospital dermatologists and pediatricians, their counterparts in private practice, hospital rheumatologi...
Source: The British Journal of Dermatology - December 9, 2019 Category: Dermatology Authors: Moegle C, Severac F, Lipsker D Tags: Br J Dermatol Source Type: research

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants
Conclusions: To date only few AD cases presenting either missense or truncating DNA2 variants have been reported. None of them presented with a cardiac involvement or rhabdomyolysis. Here we enlarge the genetic and phenotypic spectrum of DNA2-related mitochondrial disorders.
Source: Frontiers in Neurology - October 3, 2019 Category: Neurology Source Type: research

EP.133Biallelic mutations in Tenascin X, TNXB cause slowly progressive asymmetric myopathy with mild joint dislocations and connective tissue alterations
We describe a 46-year-old woman born to non-consanguineous healthy French parents, who reported slowly progressive lower limbs weakness since 28 years. She had difficulties in squatting, getting up from a chair, and, from 35 years, climbing stairs. She also reported myalgias, peripheral vascular disease in hands, joint hypermobility, multiples sprains, dislocation of the 5th finger, conjunctival hemorrhages, and colon perforation during a colonoscopy.
Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: M. Brisset, C. Metay, N. Romero, R. Carlier, C. Badosa, C. Marques, C. Jimenez-Mallebrera, P. Laforet, E. Malfatti Source Type: research

X-linked Emery –Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures
Emery –Dreifuss muscular dystrophy (EDMD) is an early-onset, usually in the first decade, slowly progressive myopathy [1]. EDMD is mainly caused either by mutations in EMD gene encoding emerin in X-linked EDMD (X-EDMD) [2], or mutations in LMNA gene encoding lamins A and C in autosomal dominant and rece ssive forms [3]. EDMD clinical presentation includes the classical triad of symptoms with early joint contractures involving the Achilles, elbows and the neck tendons, progressive muscle weakness and wasting beginning in the humeral and peroneal regions, and cardiac disease combining cardiac arrhyth mias, conduction defec...
Source: Neuromuscular Disorders - June 18, 2019 Category: Neurology Authors: Marion Brisset, Rabah Ben Yaou, Robert-Yves Carlier, Ana їs Chanut, Guillaume Nicolas, Norma B. Romero, Karim Wahbi, Camille Decrocq, France Leturcq, Pascal Laforêt, Edoardo Malfatti Tags: Case report Source Type: research

X-linked Emery-Dreifuss muscle dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures
Emery-Dreifuss muscular dystrophy (EDMD) is an early-onset, usually in the first decade, slowly progressive myopathy [1]. EDMD is mainly caused either by mutations in EMD gene encoding emerin in X-linked EDMD (X-EDMD) [2], or mutations in LMNA gene encoding lamins A and C in autosomal dominant and recessive forms [3]. EDMD clinical presentation includes the classical triad of symptoms with early joint contractures involving Achilles, elbows and the neck tendons, progressive muscle weakness and wasting beginning in the humero and peroneal regions, and cardiac disease combining cardiac arrhythmias, conduction defects and cardiomyopathy [4,5].
Source: Neuromuscular Disorders - June 18, 2019 Category: Neurology Authors: Marion Brisset, Rabah Ben Yaou, Robert-Yves Carlier, Anais Chanut, Guillaume Nicolas, Norma B. Romero, Karim Wahbi, Camille Decrocq, France Leturcq, Pascal Lafor êt, Edoardo Malfatti Tags: Case report Source Type: research

Neurological Involvement in Primary Systemic Vasculitis
Conclusion Neurological involvement is a common complication of PSV (Table 1), and neurologists play an important role in the identification and diagnosis of PSV patients with otherwise unexplained neurological symptoms as their chief complaint. This article summarizes the neurological manifestations of PSV and hopes to improve neuroscientists' understanding of this broad range of diseases. TABLE 1 Table 1. Common CNS and PNS involvements of primary systemic vasculitis. Author Contributions SZ conceived the article and wrote the manuscript. DY and GT reviewed and edited the manuscript. All authors ...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

Neuromuscular and Muscle Metabolic Functions in MELAS Before and After Resistance Training: A Case Study
Conclusion To conclude, this study suggests a preserved plasticity in the skeletal muscle of a patient with MELAS. More importantly, Resistance Training appears to be a safe and effective method to increase skeletal muscle function in this patient population, and this effect is mediated by both neuromuscular and mitochondrial adaptations. However, particular attention and caution is needed in the interpretation of the data of this single case study and further studies are warranted including larger sample of patients. Ethics Statement For this case study the participant caregiver provided written informed consent. Auth...
Source: Frontiers in Physiology - April 25, 2019 Category: Physiology Source Type: research

Hypothyroidism as a Predictor of Surgical Outcomes in the Elderly
Conclusions It is recommended to post-pone elective surgery in elderly patients with hypothyroidism until an euthyroid state is achieved. If patients need urgent or emergent surgery, it is recommended to proceed with surgery only if they have mild or moderate hypothyroidism. Replacement therapy should be started preoperatively and there should be growing attention to the possible occurrence of minor post-operative complications in hypothyroid patients. As suggested by the American Thyroid Association (ATA), the treatment in elderly patients should be initiated at low doses with slow titration based on serum TSH evaluation...
Source: Frontiers in Endocrinology - April 23, 2019 Category: Endocrinology Source Type: research

Scurfy Mice Develop Features of Connective Tissue Disease Overlap Syndrome and Mixed Connective Tissue Disease in the Absence of Regulatory T Cells
Discussion Treg represent a lineage of T cells which play a fundamental role in maintaining humoral tolerance in the periphery. This subset of “suppressor T cells” is identified as FoxP3-expressing CD4+ T cells (16, 17). The unrestrained expression of FoxP3 is essential for the development and function of Treg (4). Accordingly, a disruption of the Foxp3 gene in scurfy mice results in an autoimmune lymphoproliferative disorder with fatal multi-organ inflammation (18). Since the causative mutation occurs in orthologous genes, the scurfy phenotype is indicated as the murine equivalent of the human IPEX sy...
Source: Frontiers in Immunology - April 23, 2019 Category: Allergy & Immunology Source Type: research

Cardiovascular Health in Children and Adolescents With Congenital Adrenal Hyperplasia Due to 21-Hydroxilase Deficiency
Conclusions Increasing evidence indicates that CAH individuals are prone to develop a number of early CV risk factors, such as obesity, hypertension, insulin resistance, low-grade inflammation, increased IMT and subclinical cardiac dysfunction, already in childhood. The therapeutic management of patients with CAH remains a challenge and current treatment regimens do not always allow optimal biochemical control. Overexposure to glucocorticoids and mineralocorticoids as well as to androgens may contribute to the development of unfavorable metabolic and CV changes, even though metabolic derangement in CAH patients may also ...
Source: Frontiers in Endocrinology - April 10, 2019 Category: Endocrinology Source Type: research

Anti-NT5c1A Autoantibodies as Biomarkers in Inclusion Body Myositis
Conclusions: Anti-NT5c1A has moderate sensitivity and high specificity for sIBM using ALBIA. The presence of anti-NT5c1A antibodies may be associated with muscle weakness. Anti-NT5c1A antibodies were not associated with a specific IIF staining pattern, hence screening using HEp-2 substrate is unlikely to be a useful predictor for presence of these autoantibodies. Introduction Sporadic Inclusion Body Myositis (sIBM) is one subset of idiopathic inflammatory myopathies (IIM) that is characterized by a clinical presentation of asymmetrical muscle involvement, predominantly affecting the long finger flexors, quadriceps mu...
Source: Frontiers in Immunology - April 8, 2019 Category: Allergy & Immunology Source Type: research

234th ENMC International Workshop: Chaperone dysfunction in muscle disease Naarden, The Netherlands, 8 –10 December 2017
Twenty participants from Australia, Belgium, Denmark, Finland, France, Germany, Italy, Israel, The Netherlands, Sweden, UK and the USA met in Naarden, The Netherlands from December 8th –10th, 2017. This group included clinicians, clinical trialists, basic scientists, industry and patient representatives. Patients were represented by the Muscular Dystrophy Association and Alexander's Way (BAG3 associated myopathy). The goals were to discuss the role of protein chaperones in norma l muscle function, muscle disease and future therapies.
Source: Neuromuscular Disorders - September 24, 2018 Category: Neurology Authors: Conrad C. Weihl, Bjarne Udd, Michael Hanna, on behalf of the ENMC workshop study group Tags: Workshop report Source Type: research

234th ENMC International Workshop: Chaperone dysfunction in muscle disease, December 8-10th 2017, Naarden, Netherlands
Twenty participants from Australia, Belgium, Denmark, Finland, France, Germany, Italy, Israel, The Netherlands, Sweden, UK and the USA met in Naarden, The Netherlands from December 8th-10th, 2017. This group included clinicians, clinical trialists, basic scientists, industry and patient representatives. Patients were represented by the Muscular Dystrophy Association and Alexander's Way (BAG3 associated myopathy). The goals were to discuss the role of protein chaperones in normal muscle function, muscle disease and future therapies.
Source: Neuromuscular Disorders - September 24, 2018 Category: Neurology Authors: Conrad C. Weihl, Bjarne Udd, Michael Hanna, Workshop Participants Tags: Workshop Report Source Type: research

Congenital muscular dystrophies
To determine the minimal clinically important difference (MCID) for the motor function measure (MFM-32) in congenital muscular dystrophy and congenital myopathy patient an observational, retrospective, multicentric study was conducted on 85 congenital muscular dystrophy or congenital myopathy patients, aged 5 to 22 years at the national institute of neurological disorders and stroke of the national institutes of health and 2 French departments of paediatric physical medicine and rehabilitation. Data were collected if at least 2 MFMs were performed (MFM1 and MFM2) within 8 to 36 months of each other and if during MFM2 paren...
Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: L. Le Goff, M. Fink, G. Norato, P. Rippert, K. Meilleur, A.R. Foley, M. Jain, M. Waite, S. Donkervoort, C. B önnemann, C. Vuillerot Source Type: research

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