Search results for "Muscular Disease"

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

2016

BACKGROUND Molecular diagnostics in the genetic myopathies often requires testing of the largest and most complex transcript units in the human genome (DMD, TTN, NEB). Iteratively targeting single genes for sequencing has traditionally entailed high costs and long turnaround times. Exome sequencing has begun to supplant single targeted genes, but there are concerns regarding coverage and needed depth of the very large and complex genes that frequently cause myopathies. OBJECTIVE To evaluate efficiency of next-generation sequencing technologies to provide molecular diagnostics for patients with previously undiagnosed myopathies. METHODS We tested a targeted re-sequencing approach, using a 45…

Reported muscle symptoms during statin treatment amongst Italian dyslipidaemic patients in the real‐life setting: the PROSISA Study

2021

Aim: Statin-associated muscle symptoms (SAMS) are a major determinant of poor treatment adherence and/or discontinuation, but a definitive diagnosis of SAMS is challenging. The PROSISA study was an observational retrospective study aimed to assess the prevalence of reported SAMS in a cohort of dyslipidaemic patients. Methods: Demographic/anamnestic data, biochemical values and occurrence of SAMS were collected by 23 Italian Lipid Clinics. Adjusted logistic regression was performed to estimate odds ratio (OR) and 95% confidence intervals for association between probability of reporting SAMS and several factors. Results: Analyses were carried out on 16 717 statin-treated patients (mean ± SD, …

Protein misfolding, amyotrophic lateral sclerosis and guanabenz: Protocol for a phase II RCT with futility design (ProMISe trial)

2017

IntroductionRecent studies suggest that endoplasmic reticulum stress may play a critical role in the pathogenesis of amyotrophic lateral sclerosis (ALS) through an altered regulation of the proteostasis, the cellular pathway-balancing protein synthesis and degradation. A key mechanism is thought to be the dephosphorylation of eIF2α, a factor involved in the initiation of protein translation. Guanabenz is an alpha-2-adrenergic receptor agonist safely used in past to treat mild hypertension and is now an orphan drug. A pharmacological action recently discovered is its ability to modulate the synthesis of proteins by the activation of translational factors preventing misfolded protein accumula…

Cytoplasmic body myopathy revisited.

2018

Breaking BAG: The Co-Chaperone BAG3 in Health and Disease.

2016

Human BAG ( B cl-2-associated a thano g ene) proteins form a family of antiapoptotic proteins that currently consists of six members (BAG1–6) all sharing the BAG protein domain from which the name arises. Via this domain, BAG proteins bind to the heat shock protein 70 (Hsp70), thereby acting as a co-chaperone regulating the activity of Hsp70. In addition to their antiapoptotic activity, all human BAG proteins have distinct functions in health and disease, and BAG3 in particular is the focus of many investigations. BAG3 has a modular protein domain composition offering the possibility for manifold interactions with other proteins. Various BAG3 functions are implicated in disorders including …

Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich's ataxia patients.

2018

AbstractFriedreich’s ataxia (FRDA; OMIM 229300), an autosomal recessive neurodegenerative mitochondrial disease, is the most prevalent hereditary ataxia. In addition, FRDA patients have shown additional non-neurological features such as scoliosis, diabetes, and cardiac complications. Hypertrophic cardiomyopathy, which is found in two thirds of patients at the time of diagnosis, is the primary cause of death in these patients. Here, we used small RNA-seq of microRNAs (miRNAs) purified from plasma samples of FRDA patients and controls. Furthermore, we present the rationale, experimental methodology, and analytical procedures for dataset analysis. This dataset will facilitate the identificatio…

Statin therapy in athletes and patients performing regular intense exercise - Position paper from the International Lipid Expert Panel (ILEP)

2020

Abstract Acute and chronic physical exercises may enhance the development of statin-related myopathy. In this context, the recent (2019) guidelines of the European Society of Cardiology (ESC) and the European Atherosclerosis Society (EAS) for the management of dyslipidemias recommend that, although individuals with dyslipidemia should be advised to engage in regular moderate physical exercise (for at least 30 min daily), physicians should be alerted with regard to myopathy and creatine kinase (CK) elevation in statin-treated sport athletes. However it is worth emphasizing that abovementioned guidelines, previous and recent ESC/EAS consensus papers on adverse effects of statin therapy as wel…

JCB887052 Supplemetal Material - Supplemental material for Longitudinal imaging and evaluation of SAH-associated cerebral large artery vasospasm in m…

2019

Supplemental material, JCB887052 Supplemetal Material for Longitudinal imaging and evaluation of SAH-associated cerebral large artery vasospasm in mice using micro-CT and angiography by Vanessa Weyer, Máté E Maros, Andrea Kronfeld, Stefanie Kirschner, Christoph Groden, Clemens Sommer, Yasemin Tanyildizi, Martin Kramer and Marc A Brockmann in Journal of Cerebral Blood Flow & Metabolism

JCB905206 Supplemental Material - Supplemental material for Meprin β: A novel regulator of blood–brain barrier integrity

2020

Supplemental material, JCB905206 Supplemental Material for Meprin β: A novel regulator of blood–brain barrier integrity by Markus Gindorf, Steffen E Storck, Anke Ohler, Franka Scharfenberg, Christoph Becker-Pauly and Claus U Pietrzik in Journal of Cerebral Blood Flow & Metabolism

sj-pdf-2-imr-10.1177_0300060520982657 - Supplemental material for Evaluation of main functional dyspepsia symptoms after probiotic administration in …

2021

Supplemental material, sj-pdf-2-imr-10.1177_0300060520982657 for Evaluation of main functional dyspepsia symptoms after probiotic administration in patients receiving conventional pharmacological therapies by Lorenzo Drago, Gabriele Meroni, Dario Pistone, Luigi Pasquale, Giuseppe Milazzo, Fabio Monica, Salvatore Aragona, Leonardo Ficano, Roberto Vassallo and Gastrobiota Group in Journal of International Medical Research