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Yasmin Issop, Denisa Hathazi, Muzamil Majid Khan, Rüdiger Rudolf, Joachim Weis, Sally Spendiff, Clarke R Slater, Andreas Roos, Hanns Lochmüller
Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors required for protein and lipid glycosylation. Mutations in GFPT1 and other genes downstream of this pathway cause congenital myasthenic syndrome (CMS) characterised by fatigable muscle weakness due to impaired neurotransmission. The precise pathomechanisms at the neuromuscular junction (NMJ) due to a deficiency in GFPT1 is yet to be discovered. One of the challenges we face is the viability of Gfpt1 -/- knockout mice...
June 14, 2018: Human Molecular Genetics
Anthony L Ashley
  A 3-yr-old spayed female coyote ( Canis latrans) developed clinical signs of exertional myopathy after fighting with a conspecific. A diagnosis of exertional myopathy was made based on physical examination findings, probable myoglobinuria, and elevations in serum creatinine kinase activity, alanine aminotransferase activity, and potassium concentration. Dantrolene, a hydantoin analog, as well as supportive and symptomatic therapies, was used to successfully treat exertional myopathy. This is the first reported use of dantrolene in wildlife or zoo animals...
June 2018: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
Ronan Eustace, Allison Wack, Lisa Mangus, Ellen Bronson
  The Maryland Zoo in Baltimore is home to the largest captive assurance population of the critically endangered Panamanian golden frog ( Atelopus zeteki). With the ongoing extinction that is occurring worldwide in amphibians, the need for amphibian captive assurance populations is growing, and few mortality reviews on amphibian species exist. Necropsy and histopathologic examination of animals that die in captivity can help identify population-level disease problems, direct research needs in amphibian medicine and husbandry, and improve the success of captive breeding programs...
June 2018: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
Michio Inoue, Aritoshi Iida, Shinichiro Hayashi, Madoka Mori-Yoshimura, Atsushi Nagaoka, Shunsuke Yoshimura, Hirokazu Shiraishi, Akira Tsujino, Yuji Takahashi, Ikuya Nonaka, Yukiko K Hayashi, Satoru Noguchi, Ichizo Nishino
VCP mutations were first associated with inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) but was later associated with amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease. Now, a new name, "multisystem proteinopathy (MSP)", is proposed for this condition. VCP encodes valosin-containing protein, which is involved in protein degradation in the ubiquitin proteasome system. We report here two MSP patients with two novel heterozygous missense variants in VCP : c...
2018: Human Genome Variation
Genki Hayashi, Cassandre Labelle-Dumais, Douglas B Gould
Collagen type IV alpha 1 (COL4A1) and alpha 2 (COL4A2) form heterotrimers that constitute a major component of nearly all basement membranes. COL4A1 and COL4A2 mutations cause a multisystem disorder that includes variable cerebrovascular and skeletal muscle manifestations. The pathogenicity of COL4A1 and COL4A2 mutations is generally attributed to impaired secretion into basement membranes. Sodium 4-phenylbutyrate (4PBA) is an FDA-approved drug that promotes mutant heterotrimer secretion in vitro and in vivo Here, we use different 4PBA treatment paradigms to define therapeutic parameters for preventing cerebrovascular and muscular pathologies in Col4a1 mutant mice...
June 12, 2018: Disease Models & Mechanisms
Andoni Echaniz-Laguna, Valérie Biancalana, Pauline Gaignard, Jean-Baptiste Chanson
Rhabdomyolysis is an emergency requiring rapid diagnosis and suitable aetiological treatment. We describe the case of a 57-year-old man with recurrent exertional rhabdomyolysis who was diagnosed with systemic primary carnitine deficiency (SPCD). Clinical examination was normal, creatine kinase levels were elevated, plasma free carnitine concentration was mildly decreased, muscle biopsy demonstrated lipid accumulation, carnitine uptake in cultured fibroblasts was decreased and genetic analysis identified a homozygous pathologic c...
June 11, 2018: BMJ Case Reports
Cristina Cappelletti, Franco Salerno, Eleonora Canioni, Marina Mora, Renato Mantegazza, Pia Bernasconi, Lorenzo Maggi
Laminopathies are a heterogeneous group of diseases with overlapping phenotypes that are caused by mutations in the nuclear envelope proteins lamin A and C. The most common group of laminopathies affects skeletal and cardiac muscle tissue, and is defined as LMNA-related myopathies (LMNA-RM). In LMNA-RM patients, muscle histological findings are very variable, ranging from mild and unspecific changes to dystrophic features, sometimes with inflammatory evidence. As recently demonstrated in Duchenne muscular dystrophy, we wondered whether in LMNA-RM muscle tissue the genetic defect might determine the activation of an innate immune response, mainly mediated by Toll-like receptors (TLRs), leading to a chronic inflammation and contributing to myofiber necrosis and fibrosis...
June 12, 2018: Nucleus
Andrey V Marakhonov, Vyacheslav Yu Tabakov, Nikolay V Zernov, Elena L Dadali, Inna V Sharkova, Mikhail Yu Skoblov
Here we present a case report of collagen VI related myopathy in a patient, 8 y.o. boy, with intermediate phenotype between severe Ullrich congenital muscular dystrophy and milder Bethlem myopathy. Whole exome sequencing revealed two novel single nucleotide variants in COL6A3 gene: paternal p.Glu2402Ter, resulting in premature translation termination codon and degradation of mRNA from this allele probably due to nonsense-mediated decay, and maternal p.Arg1660Cys leading to amino-acid substitution in N2-terminal domain...
June 9, 2018: Gene
Hui-Ting Lin, Xiao Liu, Wei Zhang, Jing Liu, Yue-Huan Zuo, Jiang-Xi Xiao, Ying Zhu, Yun Yuan, Zhao-Xia Wang
Background: LMNA-related muscular dystrophy can manifest in a wide variety of disorders, including Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle muscular dystrophy (LGMD), and LMNA-associated congenital muscular dystrophy (L-CMD). Muscle magnetic resonance imaging (MRI) has become a useful tool in the diagnostic workup of patients with muscle dystrophies. This study aimed to investigate whether there is a consistent pattern of MRI changes in patients with LMNA mutations in various muscle subtypes...
June 20, 2018: Chinese Medical Journal
(no author information available yet)
[This corrects the article on p. e381 in vol. 4, PMID: 28975138.].
July 2018: Neurology® Neuroimmunology & Neuroinflammation
Sandrine Herbelet, Jan L De Bleecker
Dermatomyositis (DM), polymyositis (PM), inclusion bosy myositis (IBM), immune mediated necrotizing myopathy (IMNM) and overlap myositis (OM) are classified as inflammatory myopathies (IM) with involvement of autoimmune features such as autoreactive lymphocytes and autoantibodies. Autoimmunity can be defined as a loss in self-tolerance and attack of autoantigens by the immune system. Self-tolerance is achieved by a group of immune mechanisms occurring in central and periphal lymphoid organs and tissues, called immune checkpoints, that work in synergy to protect the body from harmful immune reactions...
June 6, 2018: Autoimmunity Reviews
Alice J Sharpe, Matthew McKenzie
Mitochondrial fatty acid β-oxidation (FAO) is the primary pathway for fatty acid metabolism in humans, performing a key role in liver, heart and skeletal muscle energy homeostasis. FAO is particularly important during times of fasting when glucose supply is limited, providing energy for many organs and tissues, including the heart, liver and brain. Deficiencies in FAO can cause life-threatening metabolic disorders in early childhood that present with liver dysfunction, hypoglycemia, dilated hypertrophic cardiomyopathy and Reye-like Syndrome...
May 23, 2018: Cells
Luigi Formicola, Alice Pannérec, Rosa Maria Correra, Barbara Gayraud-Morel, David Ollitrault, Vanessa Besson, Shahragim Tajbakhsh, Jennifer Lachey, Jasbir S Seehra, Giovanna Marazzi, David A Sassoon
Degenerative myopathies typically display a decline in satellite cells coupled with a replacement of muscle fibers by fat and fibrosis. During this pathological remodeling, satellite cells are present at lower numbers and do not display a proper regenerative function. Whether a decline in satellite cells directly contributes to disease progression or is a secondary result is unknown. In order to dissect these processes, we used a genetic model to reduce the satellite cell population by ~70-80% which leads to a nearly complete loss of regenerative potential...
2018: Frontiers in Physiology
Marco Savarese, Annalaura Torella, Olimpia Musumeci, Corrado Angelini, Guja Astrea, Luca Bello, Claudio Bruno, Giacomo Pietro Comi, Giuseppina Di Fruscio, Giulio Piluso, Giuseppe Di Iorio, Manuela Ergoli, Gaia Esposito, Marina Fanin, Olimpia Farina, Chiara Fiorillo, Arcomaria Garofalo, Teresa Giugliano, Francesca Magri, Carlo Minetti, Maurizio Moggio, Luigia Passamano, Elena Pegoraro, Ester Picillo, Simone Sampaolo, Filippo Maria Santorelli, Claudio Semplicini, Bjarne Udd, Antonio Toscano, Luisa Politano, Vincenzo Nigro
Mutations in the GAA gene may cause a late onset Pompe disease presenting with proximal weakness without the characteristic muscle pathology, and therefore a test for GAA activity is the first tier analysis in all undiagnosed patients with hyperCKemia and/or limb-girdle muscular weakness. By using MotorPlex, a targeted gene panel for next generation sequencing, we analyzed GAA and other muscle disease-genes in a large cohort of undiagnosed patients with suspected inherited skeletal muscle disorders (n = 504)...
April 9, 2018: Neuromuscular Disorders: NMD
Samantha Paramore
BACKGROUND AND PURPOSE: Acute respiratory distress syndrome (ARDS) is a high-mortality disease with limited treatment options. Optimization of gas exchange while limiting damage to the lungs is key. The use of neuromuscular blocking agents may limit hypoxemia while preventing ventilator-induced lung injury. METHODS: A literature search was conducted using Ovid Medline and the exploded MeSH terms ARDS, acute respiratory distress syndrome, neuromuscular blockade, neuromuscular blocking agents, and paralytics...
June 2018: Journal of the American Association of Nurse Practitioners
Liam R Brunham, Steven Baker, Andrew Mammen, G B John Mancini, Robert S Rosenson
Statin therapy reduces cardiovascular events in patients with, or at risk of, atherosclerotic cardiovascular disease. However, statins are underutilized in patients for whom they are indicated and are frequently discontinued. Discontinuation may be the result of the development of statin-associated muscle symptoms (SAMS), which encompass a broad spectrum of clinical phenotypes from myalgia to severe myopathy. As with many adverse drug reactions (ADRs), inter-individual variability in susceptibility to SAMS is due, at least in part, to differences in host genetics...
June 5, 2018: Cardiovascular Research
Sarah E Rumore, Mairead Heaney
No abstract text is available yet for this article.
June 6, 2018: Journal of Paediatrics and Child Health
Yan Lu, Yu-Wei Da, Yong-Biao Zhang, Xin-Gang Li, Min Wang, Li Di, Mi Pang, Lin Lei
Hereditary inclusion body myopathy (HIBM) is a rare autosomal recessive adult onset muscle disease which affects one to three individuals per million worldwide. This disease is autosomal dominant and occurs in adulthood. Our previous study reported a new subtype of HIBM linked to the susceptibility locus at 7q22.1-31.1. The present study is aimed to identify the candidate gene responsible for the phenotype in HIBM pedigree. After multipoint linkage analysis, we performed targeted capture sequencing on 16 members and whole-exome sequencing (WES) on 5 members...
2018: Frontiers in Neuroscience
Matthew J Stroud
The linker of nucleoskeleton and cytoskeleton (LINC) complex couples the nuclear lamina to the cytoskeleton. The LINC complex and its associated proteins play diverse roles in cells, ranging from genome organization, nuclear morphology, gene expression, to mechanical stability. The importance of a functional LINC complex is highlighted by the large number of mutations in genes encoding LINC complex proteins that lead to skeletal and cardiac myopathies. In this review, the structure, function, and interactions between components of the LINC complex will be described...
June 4, 2018: Biophysical Reviews
E E Sigmund, S H Baete, T Luo, K Patel, D Wang, I Rossi, A Duarte, M Bruno, D Mossa, A Femia, S Ramachandran, D Stoffel, J S Babb, A Franks, J Bencardino
INTRODUCTION: Dermatomyositis (DM) is an idiopathic inflammatory myopathy involving severe debilitation in need of diagnostics. We evaluated the proximal lower extremity musculature with diffusion tensor imaging (DTI), intravoxel incoherent motion (IVIM) and dynamic DTI in DM patients and controls and compared with standard clinical workup.  METHODS: In this IRB-approved, HIPAA-compliant study with written informed consent, anatomical, Dixon fat/water and diffusion imaging were collected in bilateral thigh MRI of 22 controls and 27 DM patients in a 3T scanner...
June 4, 2018: European Radiology
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