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Muscular myopathy

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https://www.readbyqxmd.com/read/27922574/drop-body-syndrome-a-distinct-form-of-adult-spinal-deformity
#1
Mitsuru Yagi, Shinjiro Kaneko, Yoshiyuki Yato, Takashi Asazuma
STUDY DESIGN: A retrospective observational study. OBJECTIVE: This study examined the role of skeletal muscles in the spinal alignment of lumbar degenerative kyphosis (LDK). SUMMARY OF BACKGROUND DATA: Adult spinal deformity (ASD) may present as LDK, which is unusual in that it typically lacks any coronal deformity. METHODS: This retrospective study included 367 female ASD. Demographic and radiographic data from LDKs were compared with those with other ASD...
December 2, 2016: Spine
https://www.readbyqxmd.com/read/27908613/sparc-interacts-with-actin-in-skeletal-muscle-in%C3%A2-vitro-and-in%C3%A2-vivo
#2
Louise H Jørgensen, Pia Lørup Jepsen, Anders Boysen, Line B Dalgaard, Lars G Hvid, Niels Ørtenblad, Dea Ravn, Jeeva Sellathurai, Jakob Møller-Jensen, Hanns Lochmüller, Henrik D Schrøder
The cytoskeleton is an integral part of skeletal muscle structure, and reorganization of the cytoskeleton occurs during various modes of remodeling. We previously found that the extracellular matrix protein secreted protein acidic and rich in cysteine (SPARC) is up-regulated and expressed intracellularly in developing muscle, during regeneration and in myopathies, which together suggests that SPARC might serve a specific role within muscle cells. Using co-immunoprecipitation combined with mass spectrometry and verified by staining for direct protein-protein interaction, we find that SPARC binds to actin...
November 28, 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27904835/a-novel-dominant-d109a-cryab-mutation-in-a-family-with-myofibrillar-myopathy-affects-%C3%AE-b-crystallin-structure
#3
Jakub P Fichna, Anna Potulska-Chromik, Przemysław Miszta, Maria Jolanta Redowicz, Anna M Kaminska, Cezary Zekanowski, Sławomir Filipek
Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibrils dissolution and abnormal accumulation of degradation products. So far causative mutations have been identified in nine genes encoding Z-disk proteins, including αB-crystallin (CRYAB), a small heat shock protein (also called HSPB5). Here, we report a case study of a 63-year-old Polish female with a progressive lower limb weakness and muscle biopsy suggesting a myofibrillar myopathy, and extra-muscular multisystemic involvement, including cataract and cardiomiopathy...
June 2017: BBA Clinical
https://www.readbyqxmd.com/read/27897416/curcumin-an-effective-adjunct-in-patients-with-statin-associated-muscle-symptoms
#4
REVIEW
Amirhossein Sahebkar, Nikou Saboni, Matteo Pirro, Maciej Banach
In spite of the unequivocal efficacy of statins in reducing primary and secondary cardiovascular events, the use of these drugs in a considerable number of patients is limited because of statin intolerance, mainly statin-associated muscle symptoms (SAMS). SAMS encompass a broad spectrum of clinical presentations, including mild muscular aching and other types of myalgias, myopathy with the significant elevation of creatine kinase, and the rare but life-threatening rhabdomyolysis. Among several pathophysiologic mechanisms of SAMS, mitochondrial dysfunction is thought to be one of the main one...
September 22, 2016: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/27888415/magnetic-resonance-imaging-patterns-of-muscle-involvement-in-genetic-muscle-diseases-a-systematic-review
#5
REVIEW
Doris G Leung
A growing body of the literature supports the use of magnetic resonance imaging as a potential biomarker for disease severity in the hereditary myopathies. We performed a systematic review of the medical literature to evaluate patterns of fat infiltration observed in magnetic resonance imaging studies of muscular dystrophy and congenital myopathy. Searches were performed using MEDLINE, EMBASE, and grey literature databases. Studies that described fat infiltration of muscles in patients with muscular dystrophy or congenital myopathy were selected for full-length review...
November 25, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27882118/atypical-miyoshi-distal-myopathy-a-case-report
#6
Meiling Wang, Yujie Guo, Yong Fu, Rui Jia, Gang Chen
Five distinct predominant distal myopathies have been identified with discrete clinical and genetic patterns. Miyoshi myopathy (MM; early adult-onset, type 2) is a subtype of dysferlinopathy. Furthermore, MM is the most common form of autosomal recessive distal myopathy. MM is typically characterized by muscular weakness, initially affecting the gastrocnemius or soleus muscle from the late teens or early adulthood. The present study reports a case of MM that was confirmed by pathological and immunohistochemical methods, in addition to a review of the relevant literature...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27876175/-anti-hmg-coa-reductase-necrotizing-myopathy-a-report-of-4-cases
#7
J Marti, I Kolev, A Lorleac'h, S Besnard, M Pihan, P Marcorelles
INTRODUCTION: Anti-3-hydroxy-3-méthylglutaryl-coenzyme A reductase antibody-associated necrotizing autoimmune myopathy has been recently described (2011). This myopathy is distinct from statin toxic myopathy. Our objective is to report on the clinical and para-clinical characteristics of this myopathy and to show the difficulties of therapeutic care. CASE REPORTS: We describe 4 cases of patients followed-up in Brittany, France. All data have been analyzed retrospectively...
November 18, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27859369/childhood-macrophagic-myofasciitis-a-series-from-the-indian-subcontinent
#8
Aanchal Kakkar, Madhu Rajeshwari, Aasma Nalwa, Vaishali Suri, Chitra Sarkar, Biswaroop Chakrabarty, Sheffali Gulati, Mehar C Sharma
INTRODUCTION: Macrophagic myofasciitis (MMF) is a rare disorder, reported mainly in European adults, with occasional childhood cases. We report a series of 6 patients with pediatric MMF from the Indian subcontinent. METHODS: Clinical details, creatine kinase levels, and results of electromyography are described for patients diagnosed with MMF. Fresh-frozen and formalin-fixed muscle biopsies were evaluated by hematoxylin-eosin staining, histochemistry, immunohistochemistry, and electron microscopy...
November 11, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27854226/neo-epitope-peptides-as-biomarkers-of-disease-progression-for-muscular-dystrophies-and-other-myopathies
#9
A Arvanitidis, K Henriksen, M A Karsdal, A Nedergaard
For several decades, serological biomarkers of neuromuscular diseases as dystrophies, myopathies and myositis have been limited to routine clinical biochemistry panels. Gauging the pathological progression is a prerequisite for proper treatment and therefore identifying accessible, easy to monitor biomarkers that can predict the disease progression would be an important advancement. Most muscle diseases involve accelerated muscle fiber degradation, inflammation, fatty tissue substitution and/or fibrosis. All these pathological traits have been shown to give rise to serological peptide biomarkers in other tissues, underlining the potential application of existing biomarkers of such traits in muscle disorders...
August 30, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27854214/homozygosity-of-the-dominant-myotilin-c-179c-t-p-ser60phe-mutation-causes-a-more-severe-and-proximal-muscular-dystrophy
#10
Gabrielle Rudolf, Tiina Suominen, Sini Penttilä, Peter Hackman, Anni Evilä, Béatrice Lannes, Andoni Echaniz-Laguna, Guillaume Bierry, Christine Tranchant, Bjarne Udd
Most myotilinopathy patients present with a dominant late onset distal phenotype and myofibrillar pathology, although the first MYOT mutation in a family reported to have LGMD phenotype. We report here a French family affected with a late onset proximal and distal muscle weakness and myofibrillar myopathy on muscle pathology, in which the siblings known to be clinically affected were homozygous for the c.179C>T (p.Ser60Phe) myotilin gene mutation. One subjectively asymptomatic member of the family was heterozygous for this mutation...
May 27, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27822859/analyzing-copy-number-variation-using-pulsed-field-gel-electrophoresis-providing-a-genetic-diagnosis-for-fshd1
#11
Richard J L F Lemmers
The myopathy facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by copy number variation of the D4Z4 macrosatellite repeat on chromosome 4. In unaffected individuals the number of 3.3 kb D4Z4 units varies between 8 and 100, whereas 1-10 units are seen in FSHD1 cases. A homologous and heterogenous D4Z4 array can be found on chromosome 10q, but contractions of this array are typically not associated with FSHD. Discriminating between the chromosome 4 and chromosome 10 D4Z4 arrays, as well as determining the array size, requires the use of pulsed-field gel electrophoresis, Southern blotting, and the isolation of high-quality DNA...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27818386/pediatric-necrotizing-myopathy-associated-with-anti-3-hydroxy-3-methylglutaryl-coenzyme-a-reductase-antibodies
#12
Wen-Chen Liang, Akinori Uruha, Shigeaki Suzuki, Nobuyuki Murakami, Eri Takeshita, Wan-Zi Chen, Yuh-Jyh Jong, Yukari Endo, Hirofumi Komaki, Tatsuya Fujii, Yutaka Kawano, Madoka Mori-Yoshimura, Yasushi Oya, Jianying Xi, Wenhua Zhu, Chongbo Zhao, Yurika Watanabe, Keisuke Ikemoto, Atsuko Nishikawa, Kohei Hamanaka, Satomi Mitsuhashi, Norihiro Suzuki, Ichizo Nishino
OBJECTIVE: Antibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) have recently been associated with immune-mediated necrotizing myopathy, especially in patients with statin exposure. As the data are very limited concerning phenotypes and treatment in paediatric patients, we aimed to identify the paediatric patients positive for anti-HMGCR antibodies and clarify their features and therapeutic strategies. METHODS: We screened 62 paediatric patients who were clinically and/or pathologically suspected to have inflammatory myopathy for anti-HMGCR antibodies...
November 6, 2016: Rheumatology
https://www.readbyqxmd.com/read/27816329/a-complex-interplay-of-genetic-and-epigenetic-events-leads-to-abnormal-expression-of-the-dux4-gene-in-facioscapulohumeral-muscular-dystrophy
#13
REVIEW
Laura Virginia Gatica, Alberto Luis Rosa
Facioscapulohumeral muscular dystrophy (FSHD), a prevalent inherited human myopathy, develops following a complex interplay of genetic and epigenetic events. FSHD1, the more frequent genetic form, is associated with: (1) deletion of an integral number of 3.3 Kb (D4Z4) repeated elements at the chromosomal region 4q35, (2) a specific 4q35 subtelomeric haplotype denominated 4qA, and (3) decreased methylation of cytosines at the 4q35-linked D4Z4 units. FSHD2 is most often caused by mutations at the SMCHD1 (Structural Maintenance of Chromosomes Hinge Domain 1) gene, on chromosome 18p11...
September 19, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27809552/utility-of-surgical-myotomy-in-the-dysphagia-due-to-oculopharyngeal-dystrophy
#14
Mª Asunción Acosta Mérida, Joaquín Marchena Gómez, Josefa Mª Afonso Déniz
Oculopharyngeal muscular dystrophy (OPMD), is a rare hereditary myopathy that affects mainly the levator palpebrae and the constrictor pharyngeal muscles, being able to cause severe dysphagia. It can be treated effectively by surgical cricopharyngeal myotomy, as in the case presented below.
November 4, 2016: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/27798247/rechallenging-statin-therapy-in-veterans-with-statin-induced-myopathy-post-vitamin-d-replenishment
#15
Jenny H Kang, Quynh-Nhu Nguyen, Juleann Mutka, Quang A Le
BACKGROUND: Statins are the primary class of medications used to lower cholesterol and reduce risks for coronary heart disease. However, statin muscular adverse effects are one of the main reasons for statin nonadherence and a barrier to cardiovascular risk reduction. OBJECTIVES: The primary objective of our study was to examine the effect of replenishing vitamin D on statin-induced myopathy in veteran patients who failed to maintain statin therapy in a pharmacist-run ambulatory care setting...
October 24, 2016: Journal of Pharmacy Practice
https://www.readbyqxmd.com/read/27796757/targeted-next-generation-sequencing-reveals-novel-ttn-mutations-causing-recessive-distal-titinopathy
#16
Anni Evilä, Johanna Palmio, Anna Vihola, Marco Savarese, Giorgio Tasca, Sini Penttilä, Sara Lehtinen, Per Harald Jonson, Jan De Bleecker, Peter Rainer, Michaela Auer-Grumbach, Jean Pouget, Emmanuelle Salort-Campana, Juan J Vilchez, Nuria Muelas, Montse Olive, Peter Hackman, Bjarne Udd
Tibial muscular dystrophy (TMD) is the first described human titinopathy. It is a mild adult-onset slowly progressive myopathy causing weakness and atrophy in the anterior lower leg muscles. TMD is caused by mutations in the last two exons, Mex5 and Mex6, of the titin gene (TTN). The first reported TMD mutations were dominant, but the Finnish founder mutation FINmaj, an 11-bp insertion/deletion in Mex6, in homozygosity caused a completely different severe early-onset limb-girdle muscular dystrophy 2J (LGMD2J)...
October 29, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27784775/expanding-the-phenotype-of-bicd2-mutations-toward-skeletal-muscle-involvement
#17
Andreas Unger, Gabriele Dekomien, Anne Güttsches, Thomas Dreps, Rudolf Kley, Martin Tegenthoff, Andreas Ferbert, Joachim Weis, Christoph Heyer, Wolfgang A Linke, Lilian Martinez-Carrera, Markus Storbeck, Brunhilde Wirth, Sabine Hoffjan, Matthias Vorgerd
OBJECTIVE: To expand the spectrum of bicaudal D, Drosophila, homologue 2 (BICD2) gene-related diseases, which so far includes autosomal dominant spinal muscular atrophy with lower extremity predominance 2 and hereditary spastic paraplegia due to mutations in the BICD2 gene. METHODS: We analyzed 2 independent German families with clinical, genetic, and muscle MRI studies. In both index patients, muscle histopathologic studies were performed. Transfection studies were carried out to analyze the functional consequences of the disease-causing mutations...
October 26, 2016: Neurology
https://www.readbyqxmd.com/read/27783047/camkk2-suppresses-muscle-regeneration-through-the-inhibition-of-myoblast-proliferation-and-differentiation
#18
Cheng Ye, Duo Zhang, Lei Zhao, Yan Li, Xiaohan Yao, Hui Wang, Shengjie Zhang, Wei Liu, Hongchao Cao, Shuxian Yu, Yucheng Wang, Jingjing Jiang, Hui Wang, Xihua Li, Hao Ying
Skeletal muscle has a major role in locomotion and muscle disorders are associated with poor regenerative efficiency. Therefore, a deeper understanding of muscle regeneration is needed to provide a new insight for new therapies. CaMKK2 plays a role in the calcium/calmodulin-dependent kinase cascade; however, its role in skeletal muscle remains unknown. Here, we found that CaMKK2 expression levels were altered under physiological and pathological conditions including postnatal myogensis, freeze or cardiotoxin-induced muscle regeneration, and Duchenne muscular dystrophy...
October 24, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27750387/genetic-analysis-of-the-dystrophin-gene-in-children-with-duchenne-and-becker-muscular-dystrophies
#19
Jingzi Zhong, Tiantian Xu, Gang Chen, Haixia Liao, Jiapeng Zhang, Dan Lan
Introduction Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked myopathies caused by mutations of the dystrophin gene. Methods Multiplex ligation-dependent probe amplification (MLPA) combined with next-generation sequencing (NGS) of the exons of the dystrophin gene were performed in 92 suspected DMD/BMD patients. Patients with negative results were subjected to additional muscle diseases panel tests. Results DNA rearrangements were detected in 65(70.65%) patients using MLPA. The deletions primarily clustered at exons 45-55, followed by exons 2-19...
October 17, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27747217/dnajb6-myopathies-focused-review-on-an-emerging-and-expanding-group-of-myopathies
#20
Alessandra Ruggieri, Simona Saredi, Simona Zanotti, Maria Barbara Pasanisi, Lorenzo Maggi, Marina Mora
Mutations in the DNAJB6 gene have been associated with the autosomal dominant limb girdle muscular dystrophy type 1D (LGMD1D), a disorder characterized by abnormal protein aggregates and rimmed vacuoles in muscle fibers. DNAJB6 is a ubiquitously expressed Hsp40 co-chaperone characterized by a J domain that specifies Hsp70 functions in the cellular environment. DNAJB6 is also a potent inhibitor of expanded polyglutamine (polyQ) aggregation preventing aggregate toxicity in cells. In DNAJB6-mutated patients this anti-aggregation property is significantly reduced, albeit not completely lost...
2016: Frontiers in Molecular Biosciences
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