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https://www.readbyqxmd.com/read/28239789/impairment-of-energy-dependent-processes-in-the-muscle-tissue-as-a-pathogenetic-mechanism-of-statin-induced-myopathy
#1
Z I Mikashinovich, E S Belousova, O G Sarkisyan
Administration of simvastatin was followed by a decrease in activities of superoxide dismutase and cytochrome oxidase in rat mitochondria, which attested to dysfunction of the respiratory chain. The decrease in total ATPase and Ca(2+)-ATPase activities in muscle tissue homogenates reflected impaired transport of active cations essential for muscle contraction. We conclude that abnormal relationships in the system of energy synthetic and energy-dependent processes in myocytes serve as the molecular basis for the formation of statin-induced degenerative changes...
February 27, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28237839/systemic-aav8-mediated-gene-therapy-drives-whole-body-correction-of-myotubular-myopathy-in-dogs
#2
David L Mack, Karine Poulard, Melissa A Goddard, Virginie Latournerie, Jessica M Snyder, Robert W Grange, Matthew R Elverman, Jérôme Denard, Philippe Veron, Laurine Buscara, Christine Le Bec, Jean-Yves Hogrel, Annie G Brezovec, Hui Meng, Lin Yang, Fujun Liu, Michael O'Callaghan, Nikhil Gopal, Valerie E Kelly, Barbara K Smith, Jennifer L Strande, Fulvio Mavilio, Alan H Beggs, Federico Mingozzi, Michael W Lawlor, Ana Buj-Bello, Martin K Childers
X-linked myotubular myopathy (XLMTM) results from MTM1 gene mutations and myotubularin deficiency. Most XLMTM patients develop severe muscle weakness leading to respiratory failure and death, typically within 2 years of age. Our objective was to evaluate the efficacy and safety of systemic gene therapy in the p.N155K canine model of XLMTM by performing a dose escalation study. A recombinant adeno-associated virus serotype 8 (rAAV8) vector expressing canine myotubularin (cMTM1) under the muscle-specific desmin promoter (rAAV8-cMTM1) was administered by simple peripheral venous infusion in XLMTM dogs at 10 weeks of age, when signs of the disease are already present...
February 22, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28236156/antimalarial-myopathy-in-a-systemic-lupus-erythematosus-patient-with-quadriparesis-and-seizures-a-case-based-review
#3
REVIEW
Kashif Jafri, Hengameh Zahed, Katherine D Wysham, Sarah Patterson, Amber L Nolan, Matthew D Bucknor, R Krishna Chaganti
Weakness, seizures, and encephalopathy have a broad differential diagnosis in patients with systemic lupus erythematosus (SLE). We present a case of a 26-year-old female with a recent diagnosis of SLE who experienced a clinical deterioration with quadriparesis, seizures, and encephalopathy. Her quadriparesis was found to be secondary to biopsy-proven hydroxychloroquine-induced myopathy with concomitant inflammatory myopathy. Her seizures and encephalopathy were suspected to be multifactorial in the setting of sepsis and critical illness with possible contributions from neuropsychiatric manifestations of SLE and macrophage activation syndrome...
February 24, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28235939/testing-for-atypical-myopathy
#4
(no author information available yet)
No abstract text is available yet for this article.
February 25, 2017: Veterinary Record
https://www.readbyqxmd.com/read/28230468/the-role-of-transmission-electron-microscopy-in-vacuole-associated-myopathies
#5
Valentina Papa, Roberta Costa, Roberto D'Angelo, Rita Rinaldi, Elena Pegoraro, Marina Fanin, Corrado Angelini, Giovanna Cenacchi
No abstract text is available yet for this article.
January 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28229097/pediatric-hypovitaminosis-d-molecular-perspectives-and-clinical-implications
#6
Rafiu Ariganjoye
Vitamin D, a secosteroid, is essential for the development and maintenance of healthy bone in both the adult and pediatric populations. Low level of 25-hydroxy vitamin D (25-(OH)-D) is highly prevalent in children worldwide and has been linked to various adverse health outcomes including rickets, osteomalacia, osteomalacic myopathy, sarcopenia, and weakness, growth retardation, hypocalcemia, seizure and tetany, autism, cardiovascular diseases, diabetes mellitus, cancers (prostate, colon, breast), infectious diseases (viral, tuberculosis), and autoimmune diseases, such as multiple sclerosis and Hashimoto's thyroiditis...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28228619/a-case-of-anti-3-hydroxy-3-methylglutaryl-coenzyme-a-reductase-antibody-positive-paraneoplastic-necrotizing-myopathy-associated-with-advanced-gastric-cancer-that-responded-to-intravenous-immunoglobulin-therapy
#7
Tomohisa Yamaguchi, Akiko Matsunaga, Masamichi Ikawa, Norimichi Shirafuji, Ichizo Nishino, Tadanori Hamano
A 49-year-old woman presented with progressive muscle weakness of the limbs and dysphagia. Her past and family medical history were unremarkable and she did not take statins or any other medications. Laboratory tests showed that serum levels of creatine kinase were elevated (13,565 IU/l) and anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) antibodies were detected in the serum. Other autoantibodies to the nuclear (ANA), RNP, aminoacyl-tRNA synthetases (ARS), and signal recognition particle (SRP) were negative...
February 22, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28224701/pathogenic-role-of-anti-srp-and-anti-hmgcr-antibodies-in-necrotizing-myopathies-myofiber-atrophy-and-impairment-of-muscle-regeneration-in-necrotizing-autoimmune-myopathies
#8
Louiza Arouche-Delaperche, Yves Allenbach, Damien Amelin, Corinna Preusse, Vincent Mouly, Wladimir Mauhin, Gaelle Dzangue Tchoupou, Laurent Drouot, Olivier Boyer, Werner Stenzel, Gillian Butler-Browne, Olivier Benveniste
OBJECTIVE: Immune mediated necrotizing myopathies (IMNM) may be associated with either anti-SRP or anti-HMGCR antibodies (Abs) and the titer of these Abs is correlated with the disease activity. We investigated if anti-SRP and anti-HMGCR Abs could be involved in muscle damages. METHODS: Muscle biopsies of patients were analyzed for atrophy and regeneration, by measuring the fibers size and by performing immunostaining of neonatal myosin heavy chain. To further understand the role of the Abs in the pathology, we performed muscle cell co-culture with the Abs...
February 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28224639/rigid-spine-syndrome-associated-with-sensory-motor-axonal-neuropathy-resembling-charcot-marie-tooth-disease-is-characteristic-of-bag3-gene-mutations-even-without-cardiac-involvement
#9
Jean-Baptiste Noury, Thierry Maisonobe, Pascale Richard, Valérie Delague, Edoardo Malfatti, Tanya Stojkovic
INTRODUCTION: BAG3 (Bcl-2 associated athanogene-3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement and contractures and are associated with cardiac and respiratory impairment in the second decade. Axonal neuropathy has been documented, but usually not as a key clinical feature. METHODS: We report a 24-year-old woman with severe rigid spine syndrome and sensory-motor neuropathy resembling Charcot-Marie-Tooth disease (CMT)...
February 22, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28224635/infections-and-vaccinations-as-possible-triggers-of-inflammatory-myopathies
#10
Vidya Limaye, Caroline Smith, Barbara Koszyca, Peter Blumbergs, Sophia Otto
INTRODUCTION: The role of vaccinations and infections in triggering idiopathic inflammatory myopathies (IIM) has not been confirmed. METHODS: Among patients with histologically-confirmed myositis, infections or vaccinations administered prior to myositis onset were determined. The characteristics of this group were compared with controls (myositis patients without prior infection or vaccination). RESULTS: The frequency of IIM with a prior vaccination was 20 of 206, (9...
February 22, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28224104/exertional-rhabdomyolysis-and-heat-stroke-beware-of-volatile-anesthetic-sedation
#11
REVIEW
Karel Heytens, Jan De Bleecker, Walter Verbrugghe, Jonathan Baets, Luc Heytens
In view of the enormous popularity of mass sporting events such as half-marathons, the number of patients with exertional rhabdomyolysis or exercise-induced heat stroke admitted to intensive care units (ICUs) has increased over the last decade. Because these patients have been reported to be at risk for malignant hyperthermia during general anesthesia, the intensive care community should bear in mind that the same risk of life-threatening rhabdomyolysis is present when these patients are admitted to an ICU, and volatile anesthetic sedation is chosen as the sedative technique...
February 4, 2017: World Journal of Critical Care Medicine
https://www.readbyqxmd.com/read/28223849/review-about-gabapentin-misuse-interactions-contraindications-and-side-effects
#12
REVIEW
Gabriel C Quintero
The current work is targeted to review the risks of gabapentin misuse, its potential interactions with other drugs, side effects and use contraindications. This review consists of a total of 99 biographical references (from the year 1983 to 2016). A publication search of PubMed was performed from January 1983 to December 2016. It included animal studies, clinical studies, case studies and reviews related to gabapentin misuse, potential interactions, side effects and use contraindications. The search terms were gabapentin, anticonvulsant and antiepileptic...
2017: Journal of Experimental Pharmacology
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#13
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28221306/whole-exome-sequencing-identifies-atypical-welander-distal-myopathy-in-patient
#14
Jennifer Gass, Patrick Blackburn, Jessica Jackson, Kimberly Harris, Duygu Selcen, Elliot Dimberg, Paldeep Atwal
Welander distal myopathy is a rare autosomal dominant disorder characterized by muscle weakness in the hands and feet. Exome sequencing of affected families discovered a segregating p.Glu384Lys pathogenic variant in TIA-1 as the main genetic cause of Welander distal myopathy. TIA-1 encodes an RNA-binding protein which serves as a key component of stress granules. This protein also regulates splicing and translation of mRNA. Our patient developed progressive weakness in his hands and feet during his late 40s that was misdiagnosed as a neuropathy that caused muscle atrophy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28220527/recessive-mypn-mutations-cause-cap-myopathy-with-occasional-nemaline-rods
#15
Xavière Lornage, Edoardo Malfatti, Chrystel Chéraud, Raphaël Schneider, Valérie Biancalana, Jean-Marie Cuisset, Matteo Garibaldi, Bruno Eymard, Michel Fardeau, Anne Boland, Jean-François Deleuze, Julie Thompson, Robert-Yves Carlier, Johann Böhm, Norma B Romero, Jocelyn Laporte
Congenital myopathies are phenotypically and genetically heterogeneous. We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. MYPN encodes the Z-line protein myopalladin implicated in sarcomere integrity. Functional experiments demonstrate that the mutations lead to mRNA defects and to a strong reduction in full-length protein expression. Myopalladin signals accumulate in the caps together with alpha-actinin. Dominant MYPN mutations were previously reported in cardiomyopathies...
February 21, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28219093/-impact-of-vitamin-d-in-sports-does-vitamin-d-insufficiency-compromise-athletic-performance
#16
Sebastian Butscheidt, Tim Rolvien, Peter Ueblacker, Michael Amling, Florian Barvencik
: Introduction Vitamin D is essential for calcium homeostasis and regulates the expression of over 900 genes. It thereby influences musculoskeletal health and function. Additionally, multiple other effects were observed through the detection of vitamin D receptors (VDR) in numerous tissues of the human body. Material and Methods We reviewed the literature regarding evidence of the impact of vitamin D on musculoskeletal health and peak athletic performance. Results and Discussion It is well known that there is a high prevalence of vitamin D deficiency in the average European population...
February 20, 2017: Sportverletzung Sportschaden: Organ der Gesellschaft Für Orthopädisch-Traumatologische Sportmedizin
https://www.readbyqxmd.com/read/28218388/the-new-neuromuscular-disease-related-with-defects-in-the-asc-1-complex-report-of-a-second-case-confirms-ascc1-involvement
#17
Jorge Oliveira, Márcia Martins, Rosário Pinto Leite, Mário Sousa, Rosário Santos
Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole-exome sequencing was performed with variant filtering assuming a recessive disease model...
February 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28217959/anti-rnpc3-antibodies-as-a-marker-of-cancer-associated-scleroderma
#18
Ami A Shah, George Xu, Antony Rosen, Laura K Hummers, Fredrick M Wigley, Stephen J Elledge, Livia Casciola-Rosen
INTRODUCTION: Prior studies have demonstrated an increased risk of cancer-associated scleroderma in patients with RNA polymerase III (POL) autoantibodies and in patients negative for anti-centromere (CENP), anti-topoisomerase-1 (TOPO), and anti-POL antibodies (referred to as CENP/TOPO/POL (CTP)-Negative). In a recent study of 16 CTP-negative scleroderma patients with coincident cancer, we found that 25% had autoantibodies to RNPC3, a member of the minor spliceosome complex. In this investigation, we validated the relationship between anti-RNPC3 antibodies and cancer and examined the associated clinical phenotype in a large sample of scleroderma patients...
February 19, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28217821/physicians-experiences-as-patients-with-statin-side-effects-a-case-series
#19
Hayley J Koslik, Athena Hathaway Meskimen, Beatrice Alexandra Golomb
Physicians are among those prescribed statins and therefore, subject to potential statin adverse effects (AEs). There is little information on the impact of statin AEs on physicians affected by them. We sought to assess the character and impact of statin AEs occurring in physicians and retired physicians, and to ascertain whether/how personal experience of AEs moderated physicians' attitude toward statin use. Seven active or retired physicians from the United States communicated with the Statin Effects Study group regarding their personal experience of statin AEs...
December 2017: Drug Safety—Case Reports
https://www.readbyqxmd.com/read/28217183/affection-of-the-respiratory-muscles-in-combined-complex-i-and-iv-deficiency
#20
Josef Finsterer, Helmut Rauschka, Liane Segal, Gabor G Kovacs, Boris Rolinski
OBJECTIVES: Combined complex I+IV deficiency has rarely been reported to manifest with the involvement of the respiratory muscles. CASE REPORT: A 45y male was admitted for hypercapnia due to muscular respiratory insufficiency. He required intubation and mechanical ventilation. He had a previous history of ophthalmoparesis since age 6y, ptosis since age 23y, and anterocollis since at least age 40y. Muscle biopsy from the right deltoid muscle at age 41y was indicative of mitochondrial myopathy...
2017: Open Neurology Journal
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