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juvenile muscular dystrophy

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https://www.readbyqxmd.com/read/27796757/targeted-next-generation-sequencing-reveals-novel-ttn-mutations-causing-recessive-distal-titinopathy
#1
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/27679740/increased-taurine-in-pre-weaned-juvenile-mdx-mice-greatly-reduces-the-acute-onset-of-myofibre-necrosis-and-dystropathology-and-prevents-inflammation
#2
Jessica R Terrill, Miranda D Grounds, Peter G Arthur
BACKGROUND: The mdx mouse model for the fatal muscle wasting disease Duchenne Muscular Dystrophy (DMD) shows a very mild pathology once growth has ceased, with low levels of myofibre necrosis in adults. However, from about 3 weeks of post-natal age, muscles of juvenile mdx mice undergo an acute bout of severe necrosis and inflammation: this subsequently decreases and stabilises to lower adult levels by about 6 weeks of age. Prior to the onset of this severe dystropathology, we have shown that mdx mice are deficient in the amino acid taurine (potentially due to weaning), and we propose that this exacerbates myofibre necrosis and inflammation in juvenile mdx mice...
April 29, 2016: PLoS Currents
https://www.readbyqxmd.com/read/27354222/stroke-in-duchenne-muscular-dystrophy-a-retrospective-longitudinal-study-in-54-patients
#3
Martin Winterholler, Christian Holländer, Frank Kerling, Irina Weber, Sven Dittrich, Matthias Türk, Rolf Schröder
BACKGROUND AND PURPOSE: Duchenne muscular dystrophy (DMD) is the most frequent skeletal muscle myopathy. Nearly all patients develop cardiomyopathy in their second decade of life. The purpose of this study was to evaluate the frequency, cause, and outcome of stroke in a German cohort of patients with DMD. METHODS: Retrospective analysis of medical records of 54 DMD patients, who lived in a regional facility for handicapped people (Wichernhaus Altdorf, Germany) between 1963 and 2013...
August 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27022509/limping-in-children
#4
Cláudio Santili, Wilson Lino Júnior, Ellen de Oliveira Goiano, Romero Antunes Barreto Lins, Gilberto Waisberg, Susana Dos Reis Braga, Miguel Akkari
Limping in children is a common complaint at pediatric, pediatric orthopaedic offices and in emergency rooms. There are several causes for this condition, and identifying them is a challenge. The older the patient, the better the anamnesis and more detailed the physical examination will be, enabling an easier medical assessment for searching the source of the disorder. In order to make the approach easier, three age groups can and should be considered. Among infants (1 to 3 years old), diagnosis will most likely be: transitory synovitis, septic arthritis, neurological disorders (mild brain palsy (BP) and muscular dystrophy), congenital hip dislocation (CHD), varus thigh, juvenile rheumatoid arthritis (JRA) and neoplasias (osteoid osteoma, leukemia); in the scholar age group, between 4 and 10 years old, in addition to the diagnoses above, Legg-Calvé-Perthes disease, discoid meniscus, inferior limbs discrepancy and unspecific muscular pain; in adolescents (11 to 15 years old): slipped capital femoral epiphysis, congenital hip dislocation, chondrolysis, overuse syndromes, dissecans osteochondritis, and tarsal coalition...
January 2009: Revista Brasileira de Ortopedia
https://www.readbyqxmd.com/read/26581302/a-new-titinopathy-childhood-juvenile-onset-emery-dreifuss-like-phenotype-without-cardiomyopathy
#5
Rafael De Cid, Rabah Ben Yaou, Carinne Roudaut, Karine Charton, Sylvain Baulande, France Leturcq, Norma Beatriz Romero, Edoardo Malfatti, Maud Beuvin, Anna Vihola, Audrey Criqui, Isabelle Nelson, Juliette Nectoux, Laurène Ben Aim, Christophe Caloustian, Robert Olaso, Bjarne Udd, Gisèle Bonne, Bruno Eymard, Isabelle Richard
OBJECTIVE: To identify the genetic defects present in 3 families with muscular dystrophy, contractures, and calpain 3 deficiency. METHODS: We performed targeted exome sequencing on one patient presenting a deficiency in calpain 3 on Western blot but for which mutations in the gene had been excluded. The identification of a homozygous truncating mutation in the M-line part of titin prompted us to sequence this region in 2 additional patients presenting similar clinical and biochemical characteristics...
December 15, 2015: Neurology
https://www.readbyqxmd.com/read/26338728/chimeric-cells-of-maternal-origin-do-not-appear-to-be-pathogenic-in-the-juvenile-idiopathic-inflammatory-myopathies-or-muscular-dystrophy
#6
Carol M Artlett, Sihem Sassi-Gaha, Ronald C Ramos, Frederick W Miller, Lisa G Rider
INTRODUCTION: Microchimeric cells have been studied for over a decade, with conflicting reports on their presence and role in autoimmune and other inflammatory diseases. To determine whether microchimeric cells were pathogenic or mediating tissue repair in inflammatory myopathies, we phenotyped and quantified microchimeric cells in juvenile idiopathic inflammatory myopathies (JIIM), muscular dystrophy (MD), and noninflammatory control muscle tissues. METHOD: Fluorescence immunophenotyping for infiltrating cells with sequential fluorescence in situ hybridization was performed on muscle biopsies from ten patients with JIIM, nine with MD and ten controls...
2015: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/26264580/safe-and-bodywide-muscle-transduction-in-young-adult-duchenne-muscular-dystrophy-dogs-with-adeno-associated-virus
#7
Yongping Yue, Xiufang Pan, Chady H Hakim, Kasun Kodippili, Keqing Zhang, Jin-Hong Shin, Hsiao T Yang, Thomas McDonald, Dongsheng Duan
The ultimate goal of muscular dystrophy gene therapy is to treat all muscles in the body. Global gene delivery was demonstrated in dystrophic mice more than a decade ago using adeno-associated virus (AAV). However, translation to affected large mammals has been challenging. The only reported attempt was performed in newborn Duchenne muscular dystrophy (DMD) dogs. Unfortunately, AAV injection resulted in growth delay, muscle atrophy and contracture. Here we report safe and bodywide AAV delivery in juvenile DMD dogs...
October 15, 2015: Human Molecular Genetics
https://www.readbyqxmd.com/read/26239309/taurine-deficiency-synthesis-and-transport-in-the-mdx-mouse-model-for-duchenne-muscular-dystrophy
#8
Jessica R Terrill, Miranda D Grounds, Peter G Arthur
The amino acid taurine is essential for the function of skeletal muscle and administration is proposed as a treatment for Duchenne Muscular Dystrophy (DMD). Taurine homeostasis is dependent on multiple processes including absorption of taurine from food, endogenous synthesis from cysteine and reabsorption in the kidney. This study investigates the cause of reported taurine deficiency in the dystrophic mdx mouse model of DMD. Levels of metabolites (taurine, cysteine, cysteine sulfinate and hypotaurine) and proteins (taurine transporter [TauT], cysteine deoxygenase and cysteine sulfinate dehydrogenase) were quantified in juvenile control C57 and dystrophic mdx mice aged 18 days, 4 and 6 weeks...
September 2015: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/25661982/socio-economic-burden-of-rare-diseases-a-systematic-review-of-cost-of-illness-evidence
#9
REVIEW
Aris Angelis, David Tordrup, Panos Kanavos
Cost-of-illness studies, the systematic quantification of the economic burden of diseases on the individual and on society, help illustrate direct budgetary consequences of diseases in the health system and indirect costs associated with patient or carer productivity losses. In the context of the BURQOL-RD project ("Social Economic Burden and Health-Related Quality of Life in patients with Rare Diseases in Europe") we studied the evidence on direct and indirect costs for 10 rare diseases (Cystic Fibrosis [CF], Duchenne Muscular Dystrophy [DMD], Fragile X Syndrome [FXS], Haemophilia, Juvenile Idiopathic Arthritis [JIA], Mucopolysaccharidosis [MPS], Scleroderma [SCL], Prader-Willi Syndrome [PWS], Histiocytosis [HIS] and Epidermolysis Bullosa [EB])...
July 2015: Health Policy
https://www.readbyqxmd.com/read/25602187/-myotonic-dystrophies-clinical-presentation-pathogenesis-diagnostics-and-therapy
#10
REVIEW
Josef Finsterer, S Rudnik-Schöneborn
The autosomal-dominant myotonic dystrophies dystrophia myotonica type-1 (DM1, Curschmann-Steinert disease) and dystrophia myotonica type-2 (DM2, proximal myotonic myopathy (PROMM)), are, contrary to the non-dystrophic myotonias, progressive multisystem disorders. DM1 and DM2 are the most frequent of the muscular dystrophies. In both diseases the skeletal muscle is the most severely affected organ (weakness, wasting, myotonia, myalgia). Additionally, they manifest in the eye, heart, brain, endocrine glands, gastrointestinal tract, skin, skeleton, and peripheral nerves...
January 2015: Fortschritte der Neurologie-Psychiatrie
https://www.readbyqxmd.com/read/25157414/increased-presence-of-foxp3-regulatory-t-cells-in-inflamed-muscle-of-patients-with-active-juvenile-dermatomyositis-compared-to-peripheral-blood
#11
Yvonne Vercoulen, Felicitas Bellutti Enders, Jenny Meerding, Maud Plantinga, Elisabeth F Elst, Hemlata Varsani, Christa van Schieveen, Mette H Bakker, Mark Klein, Rianne C Scholman, Wim Spliet, Valeria Ricotti, Hans J P M Koenen, Roel A de Weger, Lucy R Wedderburn, Annet van Royen-Kerkhof, Berent J Prakken
Juvenile dermatomyositis (JDM) is an immune-mediated inflammatory disease affecting the microvasculature of skin and muscle. CD4+ CD25+ FOXP3+ regulatory T cells (Tregs) are key regulators of immune homeostasis. A role for Tregs in JDM pathogenesis has not yet been established. Here, we explored Treg presence and function in peripheral blood and muscle of JDM patients. We analyzed number, phenotype and function of Tregs in blood from JDM patients by flow cytometry and in vitro suppression assays, in comparison to healthy controls and disease controls (Duchenne's Muscular Dystrophy)...
2014: PloS One
https://www.readbyqxmd.com/read/24586653/dystropathology-increases-energy-expenditure-and-protein-turnover-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy
#12
Hannah G Radley-Crabb, Juan C Marini, Horacio A Sosa, Liliana I Castillo, Miranda D Grounds, Marta L Fiorotto
The skeletal muscles in Duchenne muscular dystrophy and the mdx mouse model lack functional dystrophin and undergo repeated bouts of necrosis, regeneration, and growth. These processes have a high metabolic cost. However, the consequences for whole body energy and protein metabolism, and on the dietary requirements for these macronutrients at different stages of the disease, are not well-understood. This study used juvenile (4- to 5- wk-old) and adult (12- to 14-wk-old) male dystrophic C57BL/10ScSn-mdx/J and age-matched C57BL/10ScSn/J control male mice to measure total and resting energy expenditure, food intake, spontaneous activity, body composition, whole body protein turnover, and muscle protein synthesis rates...
2014: PloS One
https://www.readbyqxmd.com/read/24244600/decrease-in-prosaposin-in-the-dystrophic-mdx-mouse-brain
#13
Hui-Ling Gao, Cheng Li, Hiroaki Nabeka, Tetsuya Shimokawa, Naoto Kobayashi, Shouichiro Saito, Zhan-You Wang, Ya-Ming Cao, Seiji Matsuda
BACKGROUND: Duchenne muscular dystrophy caused by a mutation in the X-linked dystrophin gene induces metabolic and structural disorders in the brain. A lack of dystrophin in brain structures is involved in impaired cognitive function. Prosaposin (PS), a neurotrophic factor, is abundant in the choroid plexus and various brain regions. We investigated whether PS serves as a link between dystrophin loss and gross and/or ultrastructural brain abnormalities. METHODOLOGY/PRINCIPAL FINDINGS: The distribution of PS in the brains of juvenile and adult mdx mice was investigated by immunochemistry, Western blotting, and in situ hybridization...
2013: PloS One
https://www.readbyqxmd.com/read/24051758/wilhelm-erb-s-years-in-leipzig-1880-1883-and-their-impact-on-the-history-of-neurology
#14
Holger Steinberg, Armin Wagner
BACKGROUND: Between 1880 and 1883, the famous German neurologist Wilhelm Erb was appointed Professor of Special Pathology at Leipzig University and Head of the Medical Outpatient Department. SUMMARY: Besides the favourable clinical conditions, it was first and foremost the access to large numbers of patients that enabled him to both establish a new, juvenile form of progressive muscular atrophy and to classify various forms of muscular atrophies already discovered into a new clinical entity which he called dystrophia muscularis progressiva...
2013: European Neurology
https://www.readbyqxmd.com/read/23966782/nanolipodendrosome-loaded-glatiramer-acetate-and-myogenic-differentiation-1-as-augmentation-therapeutic-strategy-approaches-in-muscular-dystrophy
#15
Ehsan Afzal, Saba Zakeri, Peyman Keyhanvar, Meisam Bagheri, Parvin Mahjoubi, Mahtab Asadian, Nogol Omoomi, Mohammad Dehqanian, Negar Ghalandarlaki, Tahmineh Darvishmohammadi, Fatemeh Farjadian, Mohammad Sadegh Golvajoee, Shadi Afzal, Maryam Ghaffari, Reza Ahangari Cohan, Amin Gravand, Mehdi Shafiee Ardestani
BACKGROUND: [Corrected] Muscular dystrophies consist of a number of juvenile and adult forms of complex disorders which generally cause weakness or efficiency defects affecting skeletal muscles or, in some kinds, other types of tissues in all parts of the body are vastly affected. In previous studies, it was observed that along with muscular dystrophy, immune inflammation was caused by inflammatory cells invasion - like T lymphocyte markers (CD8+/CD4+). Inflammatory processes play a major part in muscular fibrosis in muscular dystrophy patients...
2013: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/23965408/what-s-in-the-literature
#16
REVIEW
David Lacomis, Ahmed El-Dokla
In amyotrophic lateral sclerosis (ALS), a recent double-blind placebo-controlled trial of acetyl-L-carnitine along with riluzole showed probable benefit in 42 patients compared with 40 patients who received placebo. Using an electrophysiologic measure devised to differentiate ALS from other neuromuscular conditions, a "splint-hand index" was devised and is reviewed. Analysis of skin in ALS may also be of interest, and there was a report of accumulation of fused in sarcoma protein in the epidermis of ALS patients...
September 2013: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/23925923/clinical-and-laboratory-features-distinguishing-juvenile-polymyositis-and-muscular-dystrophy
#17
Gulnara Mamyrova, James D Katz, Robert V Jones, Ira N Targoff, Peter A Lachenbruch, Olcay Y Jones, Frederick W Miller, Lisa G Rider
OBJECTIVE: To differentiate juvenile polymyositis (PM) and muscular dystrophy, both of which may present with chronic muscle weakness and inflammation. METHODS: We studied 39 patients with probable or definite juvenile PM and 9 patients with muscular dystrophies who were initially misdiagnosed as having juvenile PM. Differences in demographic, clinical, and laboratory results; outcomes; and treatment responses were evaluated by Fisher's exact and rank sum tests...
December 2013: Arthritis Care & Research
https://www.readbyqxmd.com/read/22947412/delphi-approach-to-select-rare-diseases-for-a-european-representative-survey-the-burqol-rd-study
#18
Renata Linertová, Pedro Serrano-Aguilar, Manuel Posada-de-la-Paz, Manuel Hens-Pérez, Panos Kanavos, Domenica Taruscio, Arrigo Schieppati, Rumen Stefanov, Márta Péntek, Claudia Delgado, Johann-Matthias Graf von der Schulenburg, Ulf Persson, Karine Chevreul, Giovanni Fattore, Melany Worbes-Cerezo, Mark Sefton, Julio López-Bastida
OBJECTIVES: The BURQOL-RD project is intended to develop a disease based model capable of quantifying the socio-economic burden and health-related quality of life for patients with rare diseases (RDs) and their caregivers in Europe. We described the methodology used to select a set of 10 RDs to be approached in a pilot study. METHODS: BURQOL-RD project includes 23 partners from 8 European countries: Spain, UK, France, Germany, Sweden, Italy, Hungary and Bulgaria...
November 2012: Health Policy
https://www.readbyqxmd.com/read/22496194/increased-muscle-expression-of-interleukin-17-in-duchenne-muscular-dystrophy
#19
L De Pasquale, A D'Amico, M Verardo, S Petrini, E Bertini, F De Benedetti
OBJECTIVES: Duchenne muscular dystrophy (DMD) is a degenerative muscle wasting disease caused by mutations in the dystrophin gene. Dystrophic muscle is characterized by chronic inflammation, and inflammatory mediators could be promising targets for innovative therapeutic interventions. We analyzed muscle biopsy samples of DMD-affected children to characterize interleukin (IL)-17 and Forkhead box P3 (Foxp3) expression levels and to identify possible correlations with clinical status. METHODS: Expression levels of IL-17, Foxp3, tumor necrosis factor-α (TNF-α), monocyte chemoattractant protein-1 (MCP-1), IL-6, and transforming growth factor-β (TGF-β) were analyzed by real-time PCR in muscle biopsy samples from patients with DMD (n = 27) and juvenile dermatomyositis (JDM) (n = 8)...
April 24, 2012: Neurology
https://www.readbyqxmd.com/read/22411247/myotonic-dystrophy-type-1-or-steinert-s-disease
#20
REVIEW
Vincenzo Romeo
Myotonic Dystrophy Type 1 (DM1) is the most common worldwide autosomal dominant muscular dystrophy due to polynucleotide [CTG]( n ) triplet expansion located on the 3'UTR of chromosome 19q13.3. A toxic gain-of-function of abnormally stored RNA in the nuclei of affected cells is assumed to be responsible for several clinical features of the disease. It plays a basic role in deregulating RNA binding protein levels and in several mRNA splicing processes of several genes, thus leading to the multisystemic features typical of DM1...
2012: Advances in Experimental Medicine and Biology
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