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https://www.readbyqxmd.com/read/28227410/localized-mri-and-histological-image-correlation-in-a-canine-model-of-duchenne-muscular-dystrophy
#1
A Eresen, S McConnell, S M Birch, J F Griffin, J N Kornegay, J X Ji, A Eresen, S McConnell, S M Birch, J F Griffin, J N Kornegay, J X Ji, J X Ji, J F Griffin, S McConnell, S M Birch, A Eresen, J N Kornegay
Duchenne Muscular Dystrophy (DMD) is a fatal X-linked disorder. Therapeutic assessments currently require muscle biopsy to ascertain information about the status of disease progression. MRI shows potential to be used in place of muscle biopsy for therapeutic assessments. In this work, localized histological data and various MRI parameters were correlated in a canine model of DMD. The results indicate several MRI parameters may be useful as biomarkers of disease progression.
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28227116/force-controlled-ultrasound-to-measure-passive-mechanical-properties-of-muscle-in-duchenne-muscular-dystrophy
#2
Anne J Pigula, Jim S Wu, Matthew W Gilbertson, Basil T Darras, Seward B Rutkove, Brian W Anthony, Anne J Pigula, Jim S Wu, Matthew W Gilbertson, Basil T Darras, Seward B Rutkove, Brian W Anthony, Anne J Pigula, Brian W Anthony, Seward B Rutkove, Basil T Darras, Jim S Wu, Matthew W Gilbertson
The purpose of this study is to assess differences in skeletal muscle compressibility between patients with Duchenne muscular dystrophy (DMD) and normal subjects. The transverse passive mechanical properties of muscle, particularly those related to stiffness and elasticity, can be measured using force-controlled ultrasound. We acquired ultrasound videos of muscle compression under known pressures in the biceps and quadriceps in 23 boys with DMD and 20 age-matched healthy controls. We calculated the bulk linear spring constant, nonlinear stress-strain response, and average Young's modulus for each...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28224647/electrical-impedance-myography-eim-in-individuals-with-col6-and-lama2-congenital-muscular-dystrophy-a-cross-sectional-and-two-year-analysis
#3
Carmel Nichols, Minal S Jain, Katherine G Meilleur, Tianxia Wu, James Collins, Melissa R Waite, Jahannaz Dastgir, Anam Salman, Sandra Donkervoort, Tina Duong, Katherine Keller, Meganne E Leach, Donovan J Lott, Michelle N McGuire, Leslie Nelson, Anne Rutkowski, Carole Vuillerot, Carsten G Bönnemann, Tanya J Lehky
INTRODUCTION: Electrical impedance myography (EIM) is a non-invasive electrophysiological technique that characterizes muscle properties through bioimpedance. We compared EIM measurements to function, strength, and disease severity in a population with congenital muscular dystrophy (CMD). METHODS: Forty-one patients with CMD, either collagen 6 related disorders (COL6-RD) (n = 21) or laminin alpha 2-related disorders (LAMA2-RD) (n = 20) and 21 healthy pediatric controls underwent 2 yearly EIM exams...
February 22, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28224104/exertional-rhabdomyolysis-and-heat-stroke-beware-of-volatile-anesthetic-sedation
#4
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/28222895/the-epigenetic-regulator-smchd1-in-development-and-disease
#5
REVIEW
Natasha Jansz, Kelan Chen, James M Murphy, Marnie E Blewitt
It has very recently become clear that the epigenetic modifier SMCHD1 has a role in two distinct disorders: facioscapulohumoral muscular dystrophy (FSHD) and Bosma arhinia and micropthalmia (BAMS). In the former there are heterozygous loss-of-function mutations, while both gain- and loss-of-function mutations have been proposed to underlie the latter. These findings have led to much interest in SMCHD1 and how it works at the molecular level. We summarise here current understanding of the mechanism of action of SMCHD1, its role in these diseases, and what has been learnt from study of mouse models null for Smchd1 in the decade since the discovery of SMCHD1...
February 17, 2017: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#6
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/28219442/eplerenone-for-early-cardiomyopathy-in-duchenne-muscular-dystrophy-results-of-a-two-year-open-label-extension-trial
#7
Subha V Raman, Kan N Hor, Wojciech Mazur, Xin He, John T Kissel, Suzanne Smart, Beth McCarthy, Sharon L Roble, Linda H Cripe
BACKGROUND: Cardiomyopathy is a leading cause of morbidity and mortality in boys with Duchenne muscular dystrophy (DMD). We recently showed in a 12-month double-blind randomized controlled trial that adding eplerenone to background medical therapy was cardioprotective in this population. The objective of this study was to evaluate the safety and efficacy of longer-term eplerenone therapy in boys with DMD. RESULTS: Eleven subjects (phase 1 baseline median [range] age: 13 [7 - 25] years) from the original 12-month trial at a single participating center were enrolled...
February 20, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28219397/immunohistochemistry-of-sarcolemmal-membrane-associated-proteins-in-formalin-fixed-and-paraffin-embedded-skeletal-muscle-tissue-a-promising-tool-for-the-diagnostic-evaluation-of-common-muscular-dystrophies
#8
Chinnawut Suriyonplengsaeng, Charungthai Dejthevaporn, Chaiyos Khongkhatithum, Suda Sanpapant, Nattha Tubthong, Koset Pinpradap, Nippa Srinark, Jariya Waisayarat
BACKGROUND: The analysis of fresh frozen muscle specimens is standard following routine muscle biopsy, but this service is not widely available in countries with limited medical facilities, such as Thailand. Nevertheless, immunohistochemistry (IHC) analysis is essential for the diagnosis of patients with a strong clinical suspicion of muscular dystrophy, in the absence of mutations detected by molecular genetics. As the successful labelling of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded (FFPE) muscle sections using IHC staining has rarely been described, this study aimed to develop a reproducible IHC method for such an analysis...
February 20, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28218619/muscular-dystrophy-meets-protein-biochemistry-the-mother-of-invention
#9
Steven D Funk, Jeffrey H Miner
Muscular dystrophies result from a defect in the linkage between the muscle fiber cytoskeleton and the basement membrane (BM). Congenital muscular dystrophy type MDC1A is caused by mutations in laminin α2 that either reduce its expression or impair its ability to polymerize within the muscle fiber BM. Defects in this BM lead to muscle fiber damage from the force of contraction. In this issue of the JCI, McKee and colleagues use a laminin polymerization-competent, designer chimeric BM protein in vivo to restore function of a polymerization-defective laminin, leading to normalized muscle structure and strength in a mouse model of MDC1A...
February 20, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28218617/chimeric-protein-repair-of-laminin-polymerization-ameliorates-muscular-dystrophy-phenotype
#10
Karen K McKee, Stephanie C Crosson, Sarina Meinen, Judith R Reinhard, Markus A Rüegg, Peter D Yurchenco
Mutations in laminin α2-subunit (Lmα2, encoded by LAMA2) are linked to approximately 30% of congenital muscular dystrophy cases. Mice with a homozygous mutation in Lama2 (dy2J mice) express a nonpolymerizing form of laminin-211 (Lm211) and are a model for ambulatory-type Lmα2-deficient muscular dystrophy. Here, we developed transgenic dy2J mice with muscle-specific expression of αLNNd, a laminin/nidogen chimeric protein that provides a missing polymerization domain. Muscle-specific expression of αLNNd in dy2J mice resulted in strong amelioration of the dystrophic phenotype, manifested by the prevention of fibrosis and restoration of forelimb grip strength...
February 20, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28214339/turner-syndrome-and-duchenne-muscular-dystrophy
#11
Sumit Verma, Parul Goyal, Charlotte Beam, Durga Shah
No abstract text is available yet for this article.
February 18, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28214289/bone-health-in-facioscapulohumeral-muscular-dystrophy-a-cross-sectional-study
#12
Hema Chagarlamudi, Alastair Corbett, Marion Stoll, Genila Bibat, Carla Grosmann, Carly Matichak Stock, Nikia Stinson, Jay Shapiro, Kathryn Wagner
INTRODUCTION: We provide a comprehensive overview of bone health in facioscapulohumeral muscular dystrophy (FSHD). METHODS: Ninety-four adult individuals with FSHD1 from two sites were included in this cross-sectional study. Clinical characteristics and determinants of bone health were examined. Relationships between bone mineral density (BMD), strength and function were explored. RESULTS: Nearly a third of subjects were deficient in vitamin D3...
February 18, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28214269/immunohistochemistry-on-a-panel-of-emery-dreifuss-muscular-dystrophy-samples-reveals-nuclear-envelope-proteins-as-inconsistent-markers-for-pathology
#13
Phu Le Thanh, Peter Meinke, Nadia Korfali, Vlastimil Srsen, Michael I Robson, Manfred Wehnert, Benedikt Schoser, Caroline A Sewry, Eric C Schirmer
Reports of aberrant distribution for some nuclear envelope proteins in cells expressing a few Emery-Dreifuss muscular dystrophy mutations raised the possibility that such protein redistribution could underlie pathology and/or be diagnostic. However, this disorder is linked to 8 different genes encoding nuclear envelope proteins, raising the question of whether a particular protein is most relevant. Therefore, myoblast/fibroblast cultures from biopsy and tissue sections from a panel of nine Emery-Dreifuss muscular dystrophy patients (4 male, 5 female) including those carrying emerin and FHL1 (X-linked) and several lamin A (autosomal dominant) mutations were stained for the proteins linked to the disorder...
December 21, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28214267/a-japanese-male-with-a-novel-ano5-mutation-with-minimal-muscle-weakness-and-muscle-pain-till-his-late-fifties
#14
Masato Kadoya, Katsuhisa Ogata, Mikiya Suzuki, Yutaka Honma, Kazunari Momma, Kana Yatabe, Takuhisa Tamura, Kenichi Kaida, Naomasa Miyata, Ichizo Nishino, Ikuya Nonaka, Mitsuru Kawai
Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with anoctamin 5 (ANO5) gene mutation, mainly reported from Northern and Central Europe. We report the case of a Japanese male patient with a novel homozygous mutation of c.2394dup, p.Arg799Thrfs in ANO5 gene, the second patient in the Asian population. He had had marked elevation of creatine kinase (CK) level for more than 10 years with minimal muscular symptoms consisting of muscle stiffness and occasional cramps, preceding the onset of proximal limb weakness...
January 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28210319/physiology-of-respiratory-disturbances-in-muscular-dystrophies
#15
Antonella Lo Mauro, Andrea Aliverti
: Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e. when the respiratory system fails in its gas exchange functions, is a common feature in muscular dystrophy, being the main cause of death, and it is a consequence of lung failure, pump failure or a combination of the two. The former is due to recurrent aspiration, the latter to progressive weakness of respiratory muscles and an increase in the load against which they must contract...
December 2016: Breathe
https://www.readbyqxmd.com/read/28209627/characterization-of-a-blood-spot-creatine-kinase-skeletal-muscle-isoform-immunoassay-for-high-throughput-newborn-screening-of-duchenne-muscular-dystrophy
#16
Stuart J Moat, Teemu Korpimäki, Petra Furu, Harri Hakala, Hanna Polari, Liisa Meriö, Pauliina Mäkinen, Ian Weeks
BACKGROUND: Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder with an average worldwide incidence of 1:5000. Blood spot creatine kinase (CK) enzyme assays previously used in newborn screening programs for DMD are nonspecific because measured CK enzyme activity is attributable to 3 isoenzyme forms of CK (CK-MM, CK-MB, and CK-BB) and it is the CK-MM isoform that is found predominantly in skeletal muscle. CK-MM is increased in boys with DMD owing to muscle damage...
February 16, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28208626/2-o-methyl-rna-ethylene-bridged-nucleic-acid-chimera-antisense-oligonucleotides-to-induce-dystrophin-exon-45-skipping
#17
REVIEW
Tomoko Lee, Hiroyuki Awano, Mariko Yagi, Masaaki Matsumoto, Nobuaki Watanabe, Ryoya Goda, Makoto Koizumi, Yasuhiro Takeshima, Masafumi Matsuo
Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disease characterized by dystrophin deficiency from mutations in the dystrophin gene. Antisense oligonucleotide (AO)-mediated exon skipping targets restoration of the dystrophin reading frame to allow production of an internally deleted dystrophin protein with functional benefit for DMD patients who have out-of-frame deletions. After accelerated US approval of eteplirsen (Exondys 51), which targets dystrophin exon 51 for skipping, efforts are now focused on targeting other exons...
February 10, 2017: Genes
https://www.readbyqxmd.com/read/28195883/long-term-pediatric-ventricular-assist-device-therapy-a-case-report-of-2100-days-of-support
#18
Neha J Purkey, Aileen Lin, Jenna M Murray, Maryalice Gowen, Paul Shuttleworth, Katsuhide Maeda, Christopher S Almond, David N Rosenthal, Sharon Chen
Ventricular assist devices (VADs) have been placed as destination therapy in adults for over twenty years but have only recently been considered an option in a subset of pediatric patients. A 2016 report from the Pediatric Interagency Registry for Mechanical Circulatory Support (PediMACS) revealed only eight pediatric patients implanted as destination therapy. We report the case of an adolescent male with Becker Muscular Dystrophy (BMD) who underwent VAD placement in 2011 as bridge to candidacy. He subsequently decided to remain as destination therapy and so far has accrued over 2100 days on VAD support, the longest duration of pediatric VAD support reported in the literature to date...
February 9, 2017: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://www.readbyqxmd.com/read/28195574/muscle-specific-crispr-cas9-dystrophin-gene-editing-ameliorates-pathophysiology-in-a-mouse-model-for-duchenne-muscular-dystrophy
#19
Niclas E Bengtsson, John K Hall, Guy L Odom, Michael P Phelps, Colin R Andrus, R David Hawkins, Stephen D Hauschka, Joel R Chamberlain, Jeffrey S Chamberlain
Gene replacement therapies utilizing adeno-associated viral (AAV) vectors hold great promise for treating Duchenne muscular dystrophy (DMD). A related approach uses AAV vectors to edit specific regions of the DMD gene using CRISPR/Cas9. Here we develop multiple approaches for editing the mutation in dystrophic mdx(4cv) mice using single and dual AAV vector delivery of a muscle-specific Cas9 cassette together with single-guide RNA cassettes and, in one approach, a dystrophin homology region to fully correct the mutation...
February 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28192862/long-term-dietary-quercetin-enrichment-as-a-cardioprotective-countermeasure-in-mdx-mice
#20
Christopher Ballmann, Thomas Denney, Ronald J Beyers, Tiffany Quindry, Matthew Romero, Joshua T Selsby, John C Quindry
Duchenne Muscular Dystrophy (DMD) causes declines in cardiac health resulting in premature mortality. As a potential countermeasure, quercetin is a polyphenol possessing inherent anti-inflammatory and antioxidant effects that activate proliferator-activated γ coactivator 1α (PGC-1α) increasing mitochondrial biogenesis protein abundance. We investigated the extent to which lifelong 0.2% dietary quercetin enrichment attenuates dystrophic cardiopathology in mdx mice. Dystrophic animals were fed quercetin or control diet for 12 months while control C57 mice were fed a control diet...
February 13, 2017: Experimental Physiology
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