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Muscular dystrophy

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https://www.readbyqxmd.com/read/29792937/a-reliable-targeted-next-generation-sequencing-strategy-for-diagnosis-of-myopathies-and-muscular-dystrophies-especially-for-the-giant-titin-and-nebulin-genes
#1
Reda Zenagui, Delphine Lacourt, Henri Pegeot, Kevin Yauy, Raul Juntas Morales, Corine Theze, François Rivier, Claude Cances, Guilhem Sole, Dimitri Renard, Ulrike Walther-Louvier, Xavier Ferrer-Monasterio, Caroline Espil, Marie-Christine Arné-Bes, Pascal Cintas, Emmanuelle Uro-Coste, Marie-Laure Martin Negrier, Valérie Rigau, Eric Bieth, Cyril Goizet, Mireille Claustres, Michel Koenig, Mireille Cossée
Myopathies and muscular dystrophies (M-MDs) are genetically heterogeneous diseases, with more than 100 identified genes, including the giant and complex titin (TTN) and nebulin (NEB) genes. Next-generation sequencing technology revolutionized M-MD diagnosis and revealed high frequency of TTN and NEB variants. We developed a next-generation sequencing diagnostic strategy targeted on the coding sequences of 135 M-MD genes. Comparison of two targeted capture technologies (SeqCap EZ Choice library capture kit (Roche-Nimblegen) and Nextera Rapid Capture Custom Enrichment kit (Illumina)) and of two whole exome sequencing kits (SureSelect V5 (Agilent) and TruSeq RapidExome capture (Illumina)) revealed best coverage with the SeqCap EZ Choice protocol...
May 21, 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29791958/imaging-patterns-of-muscle-atrophy
#2
Marc-André Weber, Marcel Wolf, Mike P Wattjes
The role of muscle imaging in the diagnosis of inherited and acquired muscle diseases has gained clinical relevance. In particular, magnetic resonance imaging (MRI) is increasingly being used for diagnostic purposes, especially with its capability of whole-body musculature assessment. The assessment and quantification of muscle involvement in muscle diseases can be of diagnostic value by identifying a certain involvement pattern and thus narrowing the differential diagnosis and supporting the clinical diagnosis...
July 2018: Seminars in Musculoskeletal Radiology
https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#3
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29791760/neopterin-7-8-dihydroneopterin-is-elevated-in-duchenne-muscular-dystrophy-patients-and-protects-mdx-skeletal-muscle-function
#4
Angus Lindsay, Alexandra Schmiechen, Christopher M Chamberlain, James M Ervasti, Dawn A Lowe
Macrophage infiltration is a hallmark of dystrophin-deficient muscle. We tested the hypothesis that Duchenne muscular dystrophy (DMD) patients would have elevated levels of the macrophage synthesized pterins, neopterin and 7,8-dihydroneopterin compared to unaffected age-matched controls. Urinary neopterin/creatinine and 7,8-dihydroneopterin/creatinine were elevated in DMD patients and 7,8-dihydroneopterin/creatinine was associated with patient age and ambulation. 7,8-dihydroneopterin correction with specific gravity was also elevated in DMD patients...
May 23, 2018: Experimental Physiology
https://www.readbyqxmd.com/read/29791652/inflammatory-myopathy-in-the-context-of-an-unusual-overlapping-laminopathy
#5
Cristina Guillín-Amarelle, Sofía Sánchez-Iglesias, Antonio Mera, Elena Pintos, Ana Castro-Pais, Leticia Rodríguez-Cañete, Julio Pardo, Felipe F Casanueva, David Araújo-Vilar
Laminopathies are genetic disorders associated with alterations in nuclear envelope proteins, known as lamins. The LMNA gene encodes lamins A and C, and LMNA mutations have been linked to diseases involving fat (type 2 familial partial lipodystrophy [FPLD2]), muscle (type 2 Emery-Dreifuss muscular dystrophy [EDMD2], type 1B limb-girdle muscular dystrophy [LGMD1B], and dilated cardiomyopathy), nerves (type 2B1 Charcot-Marie-Tooth disease), and premature aging syndromes. Moreover, overlapping syndromes have been reported...
May 17, 2018: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29790927/syntrophin-binds-directly-to-multiple-spectrin-like-repeats-in-dystrophin-and-mediates-binding-of-nnos-to-repeats-16-17
#6
Marvin E Adams, Guy L Odom, Min Jeong Kim, Jeffrey S Chamberlain, Stanley C Froehner
Mutation of the gene encoding dystrophin leads to Duchenne and Becker muscular dystrophy (DMD and BMD). Currently, dystrophin is thought to function primarily as a structural protein, connecting the muscle cell actin cytoskeleton to the extra-cellular matrix. In addition to this structural role, dystrophin also plays an important role as a scaffold that organizes an array of signaling proteins including sodium, potassium, and calcium channels, kinases, and nitric oxide synthase (nNOS). Many of these signaling proteins are linked to dystrophin via syntrophin, an adapter protein that is known to bind directly to two sites in the carboxyl terminal region of dystrophin...
May 22, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29789544/development-of-muscular-dystrophy-in-a-crispr-engineered-mutant-rabbit-model-with-frame-disrupting-ano5-mutations
#7
Tingting Sui, Li Xu, Yeh Siang Lau, Di Liu, Tingjun Liu, Yandi Gao, Liangxue Lai, Renzhi Han, Zhanjun Li
Limb girdle muscular dystrophy type 2L (LGMD2L) and Miyoshi myopathy type 3 (MMD3) are autosomal recessive muscular dystrophy caused by mutations in the gene encoding anoctamin-5 (ANO5), which belongs to the anoctamin protein family. Two independent lines of mice with complete disruption of ANO5 transcripts did not exhibit overt muscular dystrophy phenotypes; instead, one of these mice was observed to present with some abnormality in sperm motility. In contrast, a third line of ANO5-knockout (KO) mice with residual expression of truncated ANO5 expression was reported to display defective membrane repair and very mild muscle pathology...
May 22, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29789502/detection-of-dystrophin-dp71-in-human-skeletal-muscle-using-an-automated-capillary-western-assay-system
#8
Tatsuya Kawaguchi, Emma Tabe Eko Niba, Abdul Qawee Mahyoob Rani, Yoshiyuki Onishi, Makoto Koizumi, Hiroyuki Awano, Masaaki Matsumoto, Masashi Nagai, Shinobu Yoshida, Sachiko Sakakibara, Naoyuki Maeda, Osamu Sato, Hisahide Nishio, Masafumi Matsuo
BACKGROUND: Dystrophin Dp71 is one of the isoforms produced by the DMD gene which is mutated in patients with Duchenne muscular dystrophy (DMD). Although Dp71 is expressed ubiquitously, it has not been detected in normal skeletal muscle. This study was performed to assess the expression of Dp71 in human skeletal muscle. METHODS: Human skeletal muscle RNA and tissues were obtained commercially. Mouse skeletal muscle was obtained from normal and DMDmdx mice. Dp71 mRNA and protein were determined by reverse-transcription PCR and an automated capillary Western assay system, the Simple Western, respectively...
May 23, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29786157/the-antioxidants-neopterin-7-8-dihydroneopterin-novel-biomarker-and-muscle-protectant-in-duchenne-muscular-dystrophy
#9
Peter J Houweling
No abstract text is available yet for this article.
May 22, 2018: Experimental Physiology
https://www.readbyqxmd.com/read/29786150/stem-cells-blood-vessels-and-angiogenesis-as-major-determinants-for-musculoskeletal-tissue-repair
#10
Johnny Huard
This manuscript summarizes 20 years of research from my laboratories at the University of Pittsburgh and, more recently, at the University of Texas Health Science Center at Houston and the Steadman Philippon Research Institute in Vail, Colorado. The discovery of muscle-derived stem cells (MDSCs) did not arise from a deliberate search to find a novel population of muscle cells with high regenerative potential, but instead was conceived in response to setbacks encountered while working in muscle cell transplantation for Duchenne muscular dystrophy (DMD)...
May 22, 2018: Journal of Orthopaedic Research: Official Publication of the Orthopaedic Research Society
https://www.readbyqxmd.com/read/29785116/myopathy-due-to-hmgcr-antibodies-in-adult-mimicking-muscular-dystrophy-associated-with-cancer-and-statin-exposure-narrative-review-of-the-literature-case-report
#11
Alzira Alves de Siqueira Carvalho, Vinicius Gomes da Silva, Edmar Zanoteli, David Feder
Necrotizing autoimmune myopathy is characterized by predominant muscle fiber necrosis and regeneration with little or no inflammation. We describe a 58-year-old woman with previous breast cancer and statin use who complained of rapidly progressive weakness of lower limbs without pain, making walking, running and climbing stairs difficult. The creatine kinase level was 2,843 U/L, and muscle biopsy showed a dystrophic pattern. The genetic test for muscular dystrophies was negative and for anti-3-hydroxy-3-methylglutaryl coenzyme A reductase was positive...
2018: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/29784648/mouse-models-of-nesprin-related-diseases
#12
REVIEW
Can Zhou, Li Rao, Derek T Warren, Catherine M Shanahan, Qiuping Zhang
Nesprins (nuclear envelope spectrin repeat proteins) are a family of multi-isomeric scaffolding proteins. Nesprins form the LInker of Nucleoskeleton-and-Cytoskeleton (LINC) complex with SUN (Sad1p/UNC84) domain-containing proteins at the nuclear envelope, in association with lamin A/C and emerin, linking the nucleoskeleton to the cytoskeleton. The LINC complex serves as both a physical linker between the nuclear lamina and the cytoskeleton and a mechanosensor. The LINC complex has a broad range of functions and is involved in maintaining nuclear architecture, nuclear positioning and migration, and also modulating gene expression...
May 21, 2018: Biochemical Society Transactions
https://www.readbyqxmd.com/read/29783118/placenta-derived-mesenchymal-stromal-cells-and-their-exosomes-exert-therapeutic-effects-in-duchenne-muscular-dystrophy
#13
Ariel Bier, Peter Berenstein, Noam Kronfeld, Daria Morgoulis, Amotz Ziv-Av, Hodaya Goldstein, Gila Kazimirsky, Simona Cazacu, Rinat Meir, Rachela Popovtzer, Amir Dori, Chaya Brodie
Duchenne muscular dystrophy (DMD) is a degenerative lethal, X-linked disease of skeletal and cardiac muscles caused by mutations in the dystrophin gene. Cell therapy using different cell types, including mesenchymal stromal cells (MSCs), has been considered as a potential approach for the treatment of DMD. MSCs can be obtained from autologous sources such as bone marrow and adipose tissues or from allogeneic placenta and umbilical cord. The safety and therapeutic impact of these cells has been demonstrated in pre-clinical and clinical studies and their functions are attributed to paracrine effects that are mediated by secreted cytokines and extracellular vesicles...
May 3, 2018: Biomaterials
https://www.readbyqxmd.com/read/29783100/cd133-cells-derived-from-skeletal-muscles-of-duchenne-muscular-dystrophy-patients-have-a-compromised-myogenic-and-muscle-regenerative-capability
#14
Jinhong Meng, Francesco Muntoni, Jennifer Morgan
Cell-mediated gene therapy is a possible means to treat muscular dystrophies like Duchenne muscular dystrophy. Autologous patient stem cells can be genetically-corrected and transplanted back into the patient, without causing immunorejection problems. Regenerated muscle fibres derived from these cells will express the missing dystrophin protein, thus improving muscle function. CD133+ cells derived from normal human skeletal muscle contribute to regenerated muscle fibres and form muscle stem cells after their intra-muscular transplantation into an immunodeficient mouse model...
May 12, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29781327/the-progress-of-aav-mediated-gene-therapy-in-neuromuscular-disorders
#15
Sara Aguti, Alberto Malerba, Haiyan Zhou
The well-defined genetic causes and monogenetic nature of many neuromuscular disorders, including Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA), present gene therapy as a prominent therapeutic approach. The novel variants of adeno-associated virus (AAV) can achieve satisfactory transduction efficiency of exogenous genes through the central nervous system and body-wide in skeletal muscle. Areas covered: In this review, we summarize the strategies of AAV gene therapy that are currently under preclinical and clinical evaluation for the treatment of degenerative neuromuscular disorders, with a focus on diseases such as DMD and SMA...
May 20, 2018: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29779596/muscular-dystrophies
#16
REVIEW
John C Carter, Daniel W Sheehan, Andre Prochoroff, David J Birnkrant
Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and minimal respiratory compromise. The list and classification of muscular dystrophies are undergoing near-constant revision, based largely on new insights from genetics and molecular medicine...
June 2018: Clinics in Chest Medicine
https://www.readbyqxmd.com/read/29779439/descriptive-phenotype-of-obsessive-compulsive-symptoms-in-males-with-duchenne-muscular-dystrophy
#17
Angela J Lee, Edward T Buckingham, Aaron J Kauer, Katherine D Mathews
Increased rates of clinically significant internalizing disorders (obsessive compulsive disorder, anxiety, and depression) have been demonstrated in males with Duchenne muscular dystrophy, and a Duchenne muscular dystrophy neuropsychiatric syndrome has been suggested. Although symptoms of depression are widely recognized, some of the other internalizing symptoms are less frequently identified. Through a retrospective chart review of 107 males with Duchenne muscular dystrophy, we identified 15 patients with obsessive compulsive disorder spectrum symptoms; 11 of those also had anxiety symptoms...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29778277/interpretation-of-acid-%C3%AE-glucosidase-activity-in-creatine-kinase-elevation-a-case-of-becker-muscular-dystrophy
#18
Yoshiki Oitani, Akihiko Ishiyama, Motomichi Kosuga, Kentaro Iwasawa, Ayako Ogata, Fumiko Tanaka, Eri Takeshita, Yuko Shimizu-Motohashi, Hirofumi Komaki, Ichizo Nishino, Torayuki Okuyama, Masayuki Sasaki
BACKGROUND: Diagnosis of Pompe disease is sometimes challenging because it exhibits clinical similarities to muscular dystrophy. CASE: We describe a case of Becker muscular dystrophy (BMD) with a remarkable reduction in activity of the acid α-glucosidase (GAA) enzyme, caused by a combination of pathogenic mutation and polymorphism variants resulting in pseudodeficiency in GAA. The three-year-old boy demonstrated asymptomatic creatine kinase elevation. Neither exon deletion nor duplication was detected on multiplex ligation-dependent probe amplification (MLPA) of DMD...
May 16, 2018: Brain & Development
https://www.readbyqxmd.com/read/29776718/high-urinary-ferritin-reflects-myoglobin-iron-evacuation-in-dmd-patients
#19
Jérémy Rouillon, Thibaud Lefebvre, Jérôme Denard, Vincent Puy, Raed Daher, Jérôme Ausseil, Aleksandar Zocevic, Paul Fogel, Katell Peoc'h, Brenda Wong, Laurent Servais, Thomas Voit, Herve Puy, Zoubida Karim, Fedor Svinartchouk
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the dystrophin gene leading to the absence of the normal dystrophin protein. The efforts of many laboratories brought new treatments of DMD to the reality, but ongoing and forthcoming clinical trials suffer from absence of valuable biomarkers permitting to follow the outcome of the treatment day by day and to adjust the treatment if needed. In the present study the levels of 128 urinary proteins including growth factors, cytokines and chemokines were compared in urine of DMD patients and age related control subjects by antibody array approach...
March 20, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29774991/aggregate-mesenchymal-stem-cell-delivery-ameliorates-the-regenerative-niche-for-muscle-repair
#20
Marissa A Ruehle, Hazel Y Stevens, Aaron M Beedle, Robert E Guldberg, Jarrod A Call
Duchenne muscular dystrophy (DMD) is a severe muscle wasting disease due to the absence of the dystrophin protein from the muscle cell membrane which renders the muscle susceptible to continuous damage. In DMD patients, muscle weakness, together with cycles of degeneration/regeneration and replacement with non-contractile tissue, limit mobility and lifespan. Since the loss of dystrophin result in loss of polarity and a reduction in the number of self-renewing satellite cells, it is postulated that these patients could achieve an improved quality of life if delivered cells could restore satellite cell function...
May 18, 2018: Journal of Tissue Engineering and Regenerative Medicine
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