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https://www.readbyqxmd.com/read/28798690/risk-of-myopathy-in-patients-in-therapy-with-statins-identification-of-biological-markers-in-a-pilot-study
#1
Giulia M Camerino, Olimpia Musumeci, Elena Conte, Kejla Musaraj, Adriano Fonzino, Emanuele Barca, Marco Marino, Carmelo Rodolico, Domenico Tricarico, Claudia Camerino, Maria R Carratù, Jean-François Desaphy, Annamaria De Luca, Antonio Toscano, Sabata Pierno
Statin therapy may induce skeletal muscle damage ranging from myalgia to severe rhabdomyolysis. Our previous preclinical studies showed that statin treatment in rats involves the reduction of skeletal muscle ClC-1 chloride channel expression and related chloride conductance (gCl). An increase of the activity of protein kinase C theta (PKC theta) isoform, able to inactivate ClC-1, may contribute to destabilize sarcolemma excitability. These effects can be detrimental for muscle function leading to drug-induced myopathy...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28777491/identification-of-stac3-variants-in-non-native-american-families-with-overlapping-features-of-carey-fineman-ziter-syndrome-and-moebius-syndrome
#2
Aida Telegrafi, Bryn D Webb, Sarah M Robbins, Carlos E Speck-Martins, David FitzPatrick, Leah Fleming, Richard Redett, Andreas Dufke, Gunnar Houge, Jeske J T van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs, David Valle, John Carey, Julie E Hoover-Fong, Nara L M Sobreira
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28777485/pls3-deletions-lead-to-severe-spinal-osteoporosis-and-disturbed-bone-matrix-mineralization
#3
Kämpe Aj, Costantini A, Levy-Shraga Y, Zeitlin L, Roschger P, Taylan F, Lindstrand A, Paschalis Ep, Gamsjaeger S, Raas-Rothschild A, Hövel M, Jiao H, Klaushofer K, Grasemann C, Mäkitie O
Mutations in the PLS3 gene, encoding Plastin 3, were described in 2013 as a cause for X-linked primary bone fragility in children. The specific role of PLS3 in bone metabolism remains inadequately understood. Here we describe for the first time PLS3 deletions as the underlying cause for childhood-onset primary osteoporosis in three boys from two families. We carried out thorough clinical, radiological and bone tissue analyses to explore the consequences of these deletions and to further elucidate the role of PLS3 in bone homeostasis...
August 4, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28754454/clinical-spectra-of-neuromuscular-manifestations-in-patients-with-lipodystrophy-a-multicenter-study
#4
Gulcin Akinci, Haluk Topaloglu, Tevfik Demir, Ayca Ersen Danyeli, Beril Talim, Fatma Ela Keskin, Pinar Kadioglu, Enez Talip, Canan Altay, Guzin Fidan Yaylali, Habib Bilen, Banu Nur, Leyla Demir, Huseyin Onay, Baris Akinci
Lipodystrophy is a heterogeneous group of disorders characterized by loss of adipose tissue. Here, we report on clinical spectra of neuromuscular manifestations of Turkish patients with lipodystrophy. Seventy-four patients with lipodystrophy and 20 healthy controls were included. Peripheral sensorimotor neuropathy was a common finding (67.4%) in lipodystrophic patients with diabetes. Neuropathic foot ulcers were observed in 4 patients. Drop foot developed in 1 patient with congenital generalized lipodystrophy type 1...
June 1, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28749080/cellular-and-genetic-models-of-h6pdh-and-11%C3%AE-hsd1-function-in-skeletal-muscle
#5
Agnieszka E Zielinska, Rachel S Fletcher, Mark Sherlock, Craig L Doig, Gareth G Lavery
Glucocorticoids are important for skeletal muscle energy metabolism, regulating glucose utilization, insulin sensitivity, and muscle mass. Nicotinamide adenine dinucleotide phosphate-dependent 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1)-mediated glucocorticoid activation in the sarcoplasmic reticulum (SR) is integral to mediating the detrimental effects of glucocorticoid excess in muscle. 11β-Hydroxysteroid dehydrogenase type 1 activity requires glucose-6-phosphate transporter (G6PT)-mediated G6P transport into the SR for its metabolism by hexose-6-phosphate dehydrogenase (H6PDH) for NADPH generation...
July 2017: Cell Biochemistry and Function
https://www.readbyqxmd.com/read/28746208/myopathy-in-hyperthyroidism-as-a-consequence-of-rapid-reduction-of-thyroid-hormone-a-case-report
#6
Qianrui Li, Yuping Liu, Qianying Zhang, Haoming Tian, Jianwei Li, Sheyu Li
RATIONALE: Myalgia and elevated creatine kinase (CK) are occasionally observed during the treatment of hyperthyroid patients. Relative hypothyroidism resulted from rapid thyroid hormone reduction had been promoted as a plausible cause of these myopathic changes, however rarely reported. PATIENT CONCERNS: We hereby presented a 20-year-old female with Grave's disease, who developed myopathy and elevated CK during rapid correction of thyroid hormone. DIAGNOSES: Relative hypothyroidism-induced myopathy...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28742638/extraocular-muscle-findings-in-myasthenia-gravis-associated-treatment-resistant-ophthalmoplegia-a-case-report
#7
Robyn M Rautenbach, Komala Pillay, Anthony D N Murray, Jeannine M Heckmann
We report the histopathological and ultrastructural tissue analysis of extraocular muscle (EOM) obtained from a patient with seronegative myasthenia gravis (MG) with treatment-resistant ophthalmoplegia for 3.5 years. The EOM demonstrated predominantly myopathic features and ultrastructural evidence of mitochondrial dysfunction, but the most striking features were increased endomysial collagen and adipocyte replacement of muscle fibers. By contrast, control EOM from a patient undergoing strabismus surgery for a sensory exotropia in a nonseeing eye and a similar duration of deviation, showed normal muscle histology...
July 24, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28733338/early-and-lethal-neurodegeneration-with-myasthenic-and-myopathic-features-a-new-alg14-cdg
#8
David C Schorling, Simone Rost, Dirk J Lefeber, Lauren Brady, Clemens R Müller, Rudolf Korinthenberg, Mark Tarnopolsky, Carsten G Bönnemann, Richard J Rodenburg, Marianna Bugiani, Maria Beytia, Marcus Krüger, Marjo van der Knaap, Jan Kirschner
OBJECTIVE: To describe the presentation and identify the cause of a new clinical phenotype, characterized by early severe neurodegeneration with myopathic and myasthenic features. METHODS: This case study of 5 patients from 3 families includes clinical phenotype, serial MRI, electrophysiologic testing, muscle biopsy, and full autopsy. Genetic workup included whole exome sequencing and segregation analysis of the likely causal mutation. RESULTS: All 5 patients showed severe muscular hypotonia, progressive cerebral atrophy, and therapy-refractory epilepsy...
July 21, 2017: Neurology
https://www.readbyqxmd.com/read/28719515/anaesthetic-management-of-patients-with-myopathies
#9
Mark Schieren, Jerome Defosse, Andreas Böhmer, Frank Wappler, Mark U Gerbershagen
: The anaesthetic management of patients with myopathies is challenging. Considering the low incidence and heterogeneity of these disorders, most anaesthetists are unfamiliar with key symptoms, associated co-morbidities and implications for anaesthesia. The pre-anaesthetic assessment aims at the detection of potentially undiagnosed myopathic patients and, in case of known or suspected muscular disease, on the quantification of disease progression. Ancillary testing (e.g. echocardiography, ECG, lung function testing etc...
July 15, 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28714747/onset-of-white-striping-and-progression-into-wooden-breast-as-defined-by-myopathic-changes-underlying-pectoralis-major-growth-estimation-of-growth-parameters-as-predictors-for-stage-of-myopathy-progression
#10
Jacqueline Reedy Griffin, Luis Moraes, Macdonald Wick, Michael Snell Lilburn
The broiler industry has incurred significant economic losses due to two muscle myopathies, white striping (WS) and wooden breast (WB), affecting the Pectoralis major (P. major) of commercial broilers. The current study documented macroscopic changes occurring with age/growth in the P. major and P. minor muscles of commercial broilers from day 2 through 46 (n=27/day). Distinct myopathic aberrations observed in both breast muscles corresponded to the onset of WB. These distinct morphological changes were used as determinants in developing a ranking system, defining the ontogeny of WB as the following 4 stages; 1) WS, 2) petechial epimysium hemorrhages, 3) intramuscular hemorrhages and 4) ischemia...
July 17, 2017: Avian Pathology: Journal of the W.V.P.A
https://www.readbyqxmd.com/read/28712002/mutations-in-gfpt1-related-congenital-myasthenic-syndromes-are-associated-with-synaptic-morphological-defects-and-underlie-a-tubular-aggregate-myopathy-with-synaptopathy
#11
Stéphanie Bauché, Geoffroy Vellieux, Damien Sternberg, Marie-Joséphine Fontenille, Elodie De Bruyckere, Claire-Sophie Davoine, Guy Brochier, Julien Messéant, Lucie Wolf, Michel Fardeau, Emmanuelle Lacène, Norma Romero, Jeanine Koenig, Emmanuel Fournier, Daniel Hantaï, Nathalie Streichenberger, Veronique Manel, Arnaud Lacour, Aleksandra Nadaj-Pakleza, Sylvie Sukno, Françoise Bouhour, Pascal Laforêt, Bertrand Fontaine, Laure Strochlic, Bruno Eymard, Frédéric Chevessier, Tanya Stojkovic, Sophie Nicole
Mutations in GFPT1 (glutamine-fructose-6-phosphate transaminase 1), a gene encoding an enzyme involved in glycosylation of ubiquitous proteins, cause a limb-girdle congenital myasthenic syndrome (LG-CMS) with tubular aggregates (TAs) characterized predominantly by affection of the proximal skeletal muscles and presence of highly organized and remodeled sarcoplasmic tubules in patients' muscle biopsies. We report here the first long-term clinical follow-up of 11 French individuals suffering from LG-CMS with TAs due to GFPT1 mutations, of which nine are new...
August 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28703265/noncompaction-may-not-only-be-non-isolated-but-also-myopathic-commentary-to-the-article-left-ventricular-non-compaction-associated-with-hypertrophic-cardiomyopathy-in-the-same-patient
#12
https://www.readbyqxmd.com/read/28645253/a-case-report-of-thoracolumbar-paraspinal-myopathy-as-the-cause-of-camptocormia-in-a-patient-with-atypical-parkinsonism
#13
Yoon Kim, Ahro Kim, Aryun Kim, Beomseok Jeon
BACKGROUND: Camptocormia is severe flexion of the thoracolumbar spine, exaggerated during standing and walking but minimized in supine position. Even though camptocormia is a relatively common condition during the course of Parkinson's disease, there is ongoing controversy concerning its mechanisms. The most widely accepted and yet still disputed one is dystonia. However, based on myopathic changes observed in the paraspinal muscle biopsies of some PD patients with camptocormia, the attempt to attribute camptocormia to myopathy has continued...
June 23, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28635954/phenotypic-extremes-of-bicd2-opathies-from-lethal-congenital-muscular-atrophy-with-arthrogryposis-to-asymptomatic-with-subclinical-features
#14
Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A Martínez-Carrera, Wolfgang A Linke, Andreas Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth
Heterozygous variants in BICD cargo adapter 2 (BICD2) cause autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2). The disease is usually characterized by a benign or slowly progressive, congenital or early onset muscle weakness and atrophy that mainly affects the lower extremities, although some affected individuals show involvement of the arms and the shoulder girdle. Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months...
September 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28624463/insights-from-genotype-phenotype-correlations-by-novel-speg-mutations-causing-centronuclear-myopathy
#15
Haicui Wang, Claudia Castiglioni, Ayşe Kaçar Bayram, Fabiana Fattori, Serdar Pekuz, Diego Araneda, Hüseyin Per, Ricardo Erazo, Hakan Gümüş, Suzan Zorludemir, Kerstin Becker, Ximena Ortega, Jorge Alfredo Bevilacqua, Enrico Bertini, Sebahattin Cirak
Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance in muscle biopsy. Myotubular myopathy, the X-linked form of CNM caused by mutations in the phosphoinositide phosphatase MTM1, is histologically characteristic since muscle fibres resemble myotubes. Here we present two unrelated patients with CNM and typical myotubular fibres in the muscle biopsy caused by mutations in striated muscle preferentially expressed protein kinase (SPEG)...
May 24, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28602422/loss-of-function-variants-in-mylk-cause-recessive-megacystis-microcolon-intestinal-hypoperistalsis-syndrome
#16
Danny Halim, Erwin Brosens, Françoise Muller, Michael F Wangler, Arthur L Beaudet, James R Lupski, Zeynep H Coban Akdemir, Michael Doukas, Hans J Stoop, Bianca M de Graaf, Rutger W W Brouwer, Wilfred F J van Ijcken, Jean-François Oury, Jonathan Rosenblatt, Alan J Burns, Dick Tibboel, Robert M W Hofstra, Maria M Alves
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. To date, three genes are known to be involved in MMIHS pathogenesis: ACTG2, MYH11, and LMOD1. However, for approximately 10% of affected individuals, the genetic cause of the disease is unknown, suggesting that other loci are most likely involved. Here, we report on three MMIHS-affected subjects from two consanguineous families with no variants in the known MMIHS-associated genes...
July 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28586144/co-occurrence-of-jalili-syndrome-and-muscular-overgrowth
#17
Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Badura-Stronka, Michal Owecki, Przemysław Kopczynski, Ewa Mrukwa-Kominek, Anna Skorczyk-Werner, Piotr Gasperowicz, Rafal Ploski, Maciej R Krawczynski
Jalili syndrome is a rare disorder inherited in an autosomal recessive pattern manifesting as a combination of cone-rod dystrophy including progressive loss of visual acuity, color blindness, photophobia, and amelogenesis imperfecta with hypoplastic, immature, or hypocalcified dental enamel. It is caused by mutations in CNNM4, which encodes the ancient conserved domain protein 4. Here we report three brothers with Jalili syndrome and muscle overgrowth of the legs. Myopathic changes were found in needle electromyography...
June 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28576279/-atypical-reaction-to-anesthesia-in-duchenne-becker-muscular-dystrophy
#18
Helga Cristina Almeida da Silva, Marcia Hiray, Mariz Vainzof, Beny Schmidt, Acary Souza Bulle Oliveira, José Luiz Gomes do Amaral
BACKGROUND AND OBJECTIVES: Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. CASE REPORT: Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040IU...
May 30, 2017: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/28576131/analysis-of-31-year-old-patient-with-syngap1-gene-defect-points-to-importance-of-variants-in-broader-splice-regions-and-reveals-developmental-trajectory-of-syngap1-associated-phenotype-case-report
#19
Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek
BACKGROUND: Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role. The definition of the phenotype range and course of rare genetic conditions requires long-term clinical follow-up of patients. CASE PRESENTATION: We report an adult female patient with severe intellectual disability, severe speech delay, epilepsy, autistic features, aggressiveness, sleep problems, broad-based clumsy gait and constipation...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28575395/novel-mouse-models-of-oculopharyngeal-muscular-dystrophy-opmd-reveal-early-onset-mitochondrial-defects-and-suggest-loss-of-pabpn1-may-contribute-to-pathology
#20
Katherine E Vest, Brittany L Phillips, Ayan Banerjee, Luciano H Apponi, Eric B Dammer, Weiting Xu, Dinghai Zheng, Julia Yu, Bin Tian, Grace K Pavlath, Anita H Corbett
Oculopharyngeal muscular dystrophy (OPMD) is a late onset disease caused by polyalanine expansion in the poly(A) binding protein nuclear 1 (PABPN1). Several mouse models have been generated to study OPMD; however, most of these models have employed transgenic overexpression of alanine-expanded PABPN1. These models do not recapitulate the OPMD patient genotype and PABPN1 overexpression could confound molecular phenotypes. We have developed a knock-in mouse model of OPMD (Pabpn1+/A17) that contains one alanine-expanded Pabpn1 allele under the control of the native promoter and one wild-type Pabpn1 allele...
May 29, 2017: Human Molecular Genetics
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