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https://www.readbyqxmd.com/read/28747665/associations-of-statin-use-with-motor-performance-and-myalgia-may-be-modified-by-25-hydroxyvitamin-d-findings-from-a-british-birth-cohort
#1
Nikhil Sharma, Rachel Cooper, Diana Kuh
The objective was to examine whether: (1) statin use was associated with muscle related outcomes at age 60-64, (2) these associations were modified by 25-hydroxyvitamin D (25(OH)D) status and explained by inflammation, body-size or lifestyle in a British birth cohort. Markers of myalgia (intrusive body pain) and myopathy (self-reported and performance-based measures) were examined in 734 men and 822 women (MRC National Survey of Health and Development). Statin use was associated with intrusive body pain, difficulty climbing stairs and slower chair rise speed...
July 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28747414/muscular-sarcocystosis-an-index-case-in-a-native-malaysian
#2
Nurashikin Mohammad, Alwi Muhd Besari, Pradeep Kumar Nair, Wan Syamimee Wan Ghazali
A previously healthy 20-year-old man presented with prolonged intermittent low grade fever and cough for 6months. He had bilateral calf pain and lower limb weakness 2days prior to admission. Physical examination revealed multiple enlarged lymph nodes with hepatomegaly. There was bilateral calf tenderness with evidence of proximal myopathy. Full blood picture showed lymphocytosis with reactive lymphocytes and eosinophilia. Creatine kinase and lactate dehydrogenase were markedly elevated. Over 2 weeks of admission, patient was treated symptomatically until the muscle biopsy of right calf revealed eosinophilic myositis with muscular sarcocystosis...
July 26, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28746437/the-art-and-neurology-of-paul-richer
#3
Péricles Maranhão-Filho
In the 1890s, one of Charcot's most important protégés, Dr. Paul Richer (1849-1933), drew and sculpted a series of representations of the main types of nerve pathology. That series included drawings of pleomorphic hysterical crises and sculptures depicting patients suffering from labio-glosso-laryngeal paralysis and myopathy, as well as Parkinson's disease. Richer was a resident at La Salpêtrière and, in 1882, became head of the Charcot museum. Early in his career, despite having no formal artistic training, he could represent masterfully, in drawings and sculptures, people's tragic suffering from neurological diseases...
July 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28746208/myopathy-in-hyperthyroidism-as-a-consequence-of-rapid-reduction-of-thyroid-hormone-a-case-report
#4
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/28740838/a-rare-case-of-centronuclear-myopathy-with-dnm2-mutation-genotype-phenotype-correlation
#5
REVIEW
Amir Ghorbani Aghbolaghi, Mirna Lechpammer
Centronuclear myopathy (CNM) is a group of rare genetic muscle disorders characterized by muscle fibers with centrally located nuclei. The most common forms of CNM have been attributed to X-linked recessive mutations in the MTM1 gene; autosomal-dominant mutations in the DNM2 gene-encoding dynamin-2, the BIN1 gene; and autosomal-recessive mutations in BIN1, RYR1, and TTN genes. Dominant CNM due to DNM2 mutations usually follows a mild clinical course with the onset in adolescence. Currently, around 35 mutations of the DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics have not yet been defined...
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28739398/transcriptome-analysis-of-ifm-specific-actin-and-myosin-nulls-in-drosophila-melanogaster-unravels-lesion-specific-expression-blueprints-across-muscle-mutations
#6
Aditi Madan, Divesh Thimmaiya, Ari Franco-Cea, Mohammed Aiyaz, Prabodh Kumar, John C Sparrow, Upendra Nongthomba
Muscle contraction is a highly fine-tuned process that requires the precise and timely construction of large protein sub-assemblies to form sarcomeres. Mutations in many genes encoding constituent proteins of this macromolecular machine result in defective functioning of the muscle tissue. However, the pathways underlying muscle degeneration, and manifestation of myopathy phenotypes are not well understood. In this study, we explored transcriptional alterations that ensue from the absence of the two major muscle proteins - myosin and actin - using the Drosophila indirect flight muscles...
July 21, 2017: Gene
https://www.readbyqxmd.com/read/28738907/rig-i-expression-in-perifascicular-myofibers-is-a-reliable-biomarker-of-dermatomyositis
#7
Xavier Suárez-Calvet, Eduard Gallardo, Iago Pinal-Fernandez, Noemi De Luna, Cinta Lleixà, Jordi Díaz-Manera, Ricardo Rojas-García, Ivan Castellví, M Angeles Martínez, Josep M Grau, Albert Selva-O'Callaghan, Isabel Illa
BACKGROUND: Dermatomyositis (DM) is inflammatory myopathy or myositis characterized by muscle weakness and skin manifestations. In the differential diagnosis of DM the evaluation of the muscle biopsy is of importance among other parameters. Perifascicular atrophy in the muscle biopsy is considered a hallmark of DM. However, perifascicular atrophy is not observed in all patients with DM and, conversely, perifascicular atrophy can be observed in other myositis such as antisynthetase syndrome (ASS), complicating DM diagnosis...
July 24, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28737584/update-on-new-muscle-glycogenosis
#8
Pascal Laforêt, Edoardo Malfatti, John Vissing
PURPOSE OF REVIEW: The field of muscle glycogenoses has progressed in recent years by the identification of new disorders, and by reaching a better understanding of pathophysiology of the disorders and the physiology of glycogen metabolism. RECENT FINDINGS: In this review, we describe the clinical and pathological features of the three most recently described muscle glycogenoses caused by recessive mutations in GYG1, RBCK1 and PGM1. The three involved enzymes play different roles in glycogen metabolism...
July 21, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28737513/loss-of-function-mutations-in-co-chaperone-bag3-destabilize-small-hsps-and-cause-cardiomyopathy
#9
Xi Fang, Julius Bogomolovas, Tongbin Wu, Wei Zhang, Canzhao Liu, Jennifer Veevers, Matthew J Stroud, Zhiyuan Zhang, Xiaolong Ma, Yongxin Mu, Dieu-Hung Lao, Nancy D Dalton, Yusu Gu, Celine Wang, Michael Wang, Yan Liang, Stephan Lange, Kunfu Ouyang, Kirk L Peterson, Sylvia M Evans, Ju Chen
Defective protein quality control (PQC) systems are implicated in multiple diseases. Molecular chaperones and co-chaperones play a central role in functioning PQC. Constant mechanical and metabolic stress in cardiomyocytes places great demand on the PQC system. Mutation and downregulation of the co-chaperone protein BCL-2-associated athanogene 3 (BAG3) are associated with cardiac myopathy and heart failure, and a BAG3 E455K mutation leads to dilated cardiomyopathy (DCM). However, the role of BAG3 in the heart and the mechanisms by which the E455K mutation leads to DCM remain obscure...
July 24, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28736830/pcsk9-in-context-a-contemporary-review-of-an-important-biological-target-for-the-prevention-and-treatment-of-atherosclerotic-cardiovascular-disease
#10
REVIEW
Michael M Page, Gerald F Watts
Proprotein convertase subtilisin/kexin type 9 (PCSK9) and the identification of its critical role in lipoprotein metabolism has rapidly led to the development of PCSK9 inhibition with monoclonal antibodies (mAbs). PCSK9 mAbs are already in limited clinical use and are the subject of major cardiovascular outcomes trials, which if universally positive could see much wider clinical application of these agents. Patients with familial hypercholesterolaemia are the most obvious candidates for these drugs, but other patients with elevated cardiovascular risk, statin intolerance or hyperlipoproteinaemia(a) may also benefit...
July 24, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28736735/arginine-and-citrulline-for-the-treatment-of-melas-syndrome
#11
Ayman W El-Hattab, Mohammed Almannai, Fernando Scaglia
MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) syndrome is a maternally inherited mitochondrial disease with a broad spectrum of manifestations. In addition to impaired energy production, nitric oxide (NO) deficiency occurs in MELAS syndrome and leads to impaired blood perfusion in microvasculature that can contribute to several complications including stroke-like episodes, myopathy, and lactic acidosis. The supplementation of NO precursors, L-arginine and L-citrulline, increases NO production and hence can potentially have therapeutic utility in MELAS syndrome...
January 2017: Journal of Inborn Errors of Metabolism and Screening
https://www.readbyqxmd.com/read/28732005/filamin-actin-binding-and-titin-binding-fulfill-distinct-functions-in-z-disc-cohesion
#12
Nicanor González-Morales, Tristan K Holenka, Frieder Schöck
Many proteins contribute to the contractile properties of muscles, most notably myosin thick filaments, which are anchored at the M-line, and actin thin filaments, which are anchored at the Z-discs that border each sarcomere. In humans, mutations in the actin-binding protein Filamin-C result in myopathies, but the underlying molecular function is not well understood. Here we show using Drosophila indirect flight muscle that the filamin ortholog Cheerio in conjunction with the giant elastic protein titin plays a crucial role in keeping thin filaments stably anchored at the Z-disc...
July 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28729369/pigmentary-retinopathy-rod-cone-dysfunction-and-sensorineural-deafness-associated-with-a-rare-mitochondrial-trna-lys-m-8340g-a-gene-variant
#13
Jaidip S Gill, Steven A Hardy, Emma L Blakely, Sila Hopton, Andrea H Nemeth, Carl Fratter, Joanna Poulton, Robert W Taylor, Susan M Downes
BACKGROUND/AIM: The rare mitochondrial DNA (mtDNA) variant m.8340G>A has been previously reported in the literature in a single, sporadic case of mitochondrial myopathy. In this report, we aim to investigate the case of a 39-year-old male patient with sensorineural deafness who presented to the eye clinic with nyctalopia, retinal pigmentary changes and bilateral cortical cataracts. METHODS: The patient was examined clinically and investigated with autofluorescence, full-field electroretinography, electro-oculogram and dark adaptometry...
July 20, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28729039/congenital-myopathy-due-to-myosin-heavy-chain-2-mutation-presenting-as-chronic-aspiration-pneumonia-in-infancy
#14
R Tsabari, H Daum, E Kerem, Y Fellig, T Dor
A 7-week-old infant presented with persistent noisy breathing and aspirations during swallowing. Neurological examination and brain MRI were normal. His 12-year-old brother underwent pneumonectomy at the age of 10 years due to recurrent aspirations leading to severe lung damage. The older brother developed subsequently ophthalmoplegia and nystagmus along with mild weakness of the neck flexors and proximal muscles. Exome analysis revealed homozygosity for a novel truncating mutation p.G800fs27* in the Myosin Heavy Chain 2 (MYH2) gene in both brothers, while parents and an unaffected sibling were heterozygous...
June 27, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28728682/-statin-and-risk-of-falls-in-the-elderly-a-sytematic-review-of-the-literature
#15
Luis Carlos Venegas Sanabria, Stephany Barbosa Balaquera, Ana María Suarez Acosta, Ángel Alberto García Peña, Carlos Alberto Cano Gutiérrez
BACKGROUND: With the high incidence of cardiovascular events in the elderly population the effectiveness of statins in reducing mortality from coronary events has been demonstrated. However, there have been adverse effects, such as myalgia, myopathy, myonecrosis, not to mention the falls as a result of muscle damage with statin use. OBJECTIVE: The purpose of this study is to conduct a systematic review to assess the literature on the association between statin use and the risk of falls...
July 17, 2017: Revista Española de Geriatría y Gerontología
https://www.readbyqxmd.com/read/28725427/progressive-hypoventilation-due-to-mixed-cd8-and-cd4-lymphocytic-polymyositis-following-tremelimumab-durvalumab-treatment
#16
Sooraj John, Scott J Antonia, Trevor A Rose, Robert P Seifert, Barbara A Centeno, Aaron S Wagner, Ben C Creelan
BACKGROUND: The combination of CTLA-4 and PD-L1 inhibitors has a manageable adverse effect profile, although rare immune-related adverse events (irAE) can occur. CASE PRESENTATION: We describe an autoimmune polymyositis following a partial response to combination tremelimumab and durvalumab for the treatment of recurrent lung adenocarcinoma. Radiography revealed significant reduction in all metastases; however, the patient developed progressive neuromuscular hypoventilation due to lymphocytic destruction of the diaphragmatic musculature...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28725008/methylglyoxal-and-advanced-glycation-end-products-insight-of-the-regulatory-machinery-affecting-the-myogenic-program-and-of-its-modulation-by-natural-compounds
#17
Mohammad Hassan Baig, Arif Tasleem Jan, Gulam Rabbani, Khurshid Ahmad, Jalaluddin M Ashraf, Taeyeon Kim, Han Sol Min, Yong Ho Lee, Won-Kyung Cho, Jin Yeul Ma, Eun Ju Lee, Inho Choi
Methylglyoxal (MG) is a reactive dicarbonyl intermediate and a precursor of advanced glycation end products (AGEs). The authors investigated the role played by AGEs in muscle myopathy and the amelioration of its effects by curcumin and gingerol. In addition to producing phenotypical changes, MG increased oxidative stress and reduced myotube formation in C2C12 cells. RAGE (receptor for AGEs) expression was up-regulated and MYOD and myogenin (MYOG) expressions were concomitantly down-regulated in MG-treated cells...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28724748/depressed-synaptic-transmission-and-reduced-vesicle-release-sites-in-huntington-s-disease-neuromuscular-junctions
#18
Ahmad Khedraki, Eric J Reed, Shannon H Romer, Qingbo Wang, William Romine, Mark M Rich, Robert J Talmadge, Andrew A Voss
Huntington's disease (HD) is a progressive and fatal degenerative disorder that results in debilitating cognitive and motor dysfunction. Most HD studies have focused on degeneration of the central nervous system. We previously discovered that skeletal muscle from transgenic R6/2 HD mice is hyperexcitable due to decreased chloride and potassium conductances. The progressive and early onset of these defects suggest a primary myopathy in HD. In this study, we examined the relationship between neuromuscular transmission and skeletal muscle hyperexcitability...
July 19, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28721426/co-localization-of-macrophage-inhibitory-factor-and-nix-in-skeletal-muscle-of-the-aged-male-interleukin-10-null-mouse
#19
P Abadir, F Ko, R Marx, L Powell, E Kieserman, H Yang, J Walston
Chronic inflammation is associated with muscle weakness and frailty in older adults. The antagonistic cross-talk between macrophage migration inhibitory factor (Mif), an anti-apoptotic cytokine and NIP3-like protein X (Nix), a pro-apoptotic mitochondrial protein, may play a role in mitochondrial free radical homeostasis and inflammatory myopathies. We examined Nix-Mif interaction in inflammation and aging using young and old, IL-10tm/tm (a rodent model of chronic inflammation) and C57BL/6 mice. In this study, we observed that Nix and Mif were co-localized in skeletal muscles of aged and inflamed mice...
2017: Journal of Frailty & Aging
https://www.readbyqxmd.com/read/28720599/hyperacute-muscle-weakness-in-an-unusual-coexistence-of-antisignal-recognition-particle-and-anti-mi-2-antibodies
#20
Richard Oluyinka Akintayo, Olanrewaju Festus Agbola, Abiodun Waliyullah Adeyemo, Olufemi Adelowo
Idiopathic inflammatory myopathies are a heterogeneous group of systemic diseases characterised by variable phenotypes of chronic progressive muscle weakness. Myositis-specific antibodies (MSAs) include antibodies to cytoplasmic signal recognition particle (SRP) and various tRNA synthetases as well as the nuclear helicase protein Mi-2. These antibodies are typically found only in a fraction of true myositis cases and they tend to be mutually exclusive. Few cases of coexistence of two MSAs in the same patient have been reported and these cases all involve an antisynthetase antibody coexisting with either anti-SRP or anti-Mi-2 antibody...
July 18, 2017: BMJ Case Reports
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