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Long-Term Outcome After Ablation of Right Atrial Tachyarrhythmias After the Surgical Repair of Congenital and Acquired Heart Disease
Atrial myopathy, atriotomies, and fibrotic scars are the pathophysiological substrate of lines of conduction block, promoting atrial macroreentry. The aim of this study was to determine the acute and long-term outcome of radiofrequency catheter ablation (RFCA) for right atrial tachyarrhythmia (AT) in adults after cardiac surgery for congenital heart disease (CHD) and acquired heart disease (AHD) and predictors of these outcomes. Clinical records of adults after surgery for heart disease undergoing RFCA of right-sided AT were analyzed retrospectively.
Source: The American Journal of Cardiology - March 25, 2015 Category: Cardiology Authors: Ignasi Anguera, Paolo Dallaglio, Rosa Macías, Javier Jiménez-Candil, Rafael Peinado, Javier García-Seara, Mari Fe Arcocha, Benito Herreros, Aurelio Quesada, Antonio Hernández-Madrid, Miguel Alvarez, David Filgueiras, Roberto Matía, Angel Cequier, Xav Tags: Arrhythmias and Conduction Disturbances Source Type: research

Long-term Outcome After Ablation of Right Atrial Tachyarrhythmias Following the Surgical Repair of Congenital and Acquired Heart Disease
Atrial myopathy, atriotomies and fibrotic scars are the pathophysiological substrate of lines of conduction block, promoting atrial macroreentry. The aim of this study was to determine the acute and long-term outcome of radiofrequency catheter ablation (RFCA) for right atrial tachyarrhythmia (AT) in adults following cardiac surgery for congenital (CHD) and acquired heart disease (AHD), and predictors of these outcomes. Clinical records of adults following surgery for heart disease undergoing RFCA of right-sided AT were analyzed retrospectively.
Source: The American Journal of Cardiology - March 25, 2015 Category: Cardiology Authors: Ignasi Anguera, Paolo Dallaglio, Rosa Macías, Javier Jiménez-Candil, Rafael Peinado, Javier Garcia Seara, Mari Fe Arcocha, Benito Herreros, Aurelio Quesada, Antonio Hernández-Madrid, Miguel Alvarez, David Filgueiras, Roberto Matía, Angel Cequier, Xavi Source Type: research

The composition of cellular infiltrates in anti‐HMG‐CoA reductase‐associated myopathy
Conclusion: In addition to necrosis, scattered CD4+, CD8+, and PD cells are characteristic of anti‐HMGCR myopathy. Predominant M2 polarization suggests infiltrating macrophages are more likely to be involved with tissue repair than destruction. This article is protected by copyright. All rights reserved.
Source: Muscle and Nerve - March 3, 2015 Category: Internal Medicine Authors: Tae Chung, Lisa Christopher‐Stine, Julie J. Paik, Andrea Corse, Andrew L. Mammen Tags: Research Article Source Type: research

DNA mismatch repair enzymes: Genetic defects and autoimmunity
Publication date: 10 March 2015 Source:Clinica Chimica Acta, Volume 442 Author(s): Yoshinao Muro , Kazumitsu Sugiura , Tsuneyo Mimori , Masashi Akiyama DNA mismatch repair (MMR) is one of the several DNA repair pathways conserved from bacteria to humans. The primary function of MMR is to eliminate the mismatch of base–base insertions and deletions that appear as a consequence of DNA polymerase errors at DNA synthesis. The genes encoding the DNA MMR enzymes (MMREs) are highly conserved throughout evolution. In humans, there are two sets of MMREs, corresponding to homologues of the bacterial MutLS systems. The human MutS...
Source: Clinica Chimica Acta - February 3, 2015 Category: Laboratory Medicine Source Type: research

DNA mismatch repair enzymes: Genetic defects and autoimmunity.
Abstract DNA mismatch repair (MMR) is one of the several DNA repair pathways conserved from bacteria to humans. The primary function of MMR is to eliminate the mismatch of base-base insertions and deletions that appear as a consequence of DNA polymerase errors at DNA synthesis. The genes encoding the DNA MMR enzymes (MMREs) are highly conserved throughout evolution. In humans, there are two sets of MMREs, corresponding to homologues of the bacterial MutLS systems. The human MutS enzymes consist of MSH2, MSH3 and MSH6, and the human MutL enzymes include MLH1, MLH3, PMS1 and PMS2. Since the beginning of this century...
Source: International Journal of Clinical Chemistry - January 22, 2015 Category: Chemistry Authors: Muro Y, Sugiura K, Mimori T, Akiyama M Tags: Clin Chim Acta Source Type: research

Xin‐deficient mice display myopathy, impaired contractility, attenuated muscle repair and altered satellite cell functionality
ConclusionXin deficiency leads to a myopathic condition characterized by increased muscle fatigability, impaired regeneration and SC dysfunction.This article is protected by copyright. All rights reserved.
Source: Acta Physiologica - January 14, 2015 Category: Physiology Authors: Dhuha Al‐Sajee, Aliyah A. Nissar, Samantha K. Coleman, Irena A. Rebalka, Albert Chiang, Rafae Wathra, Peter F. M. Ven, Zacharias Orfanos, Thomas J. Hawke Tags: Regular Paper Source Type: research

Lkb1 Is Indispensable for Skeletal Muscle Development, Regeneration, and Satellite Cell Homeostasis
Abstract Serine/threonine kinase 11, commonly known as liver kinase b1 (Lkb1), is a tumor suppressor that regulates cellular energy metabolism and stem cell function. Satellite cells are skeletal muscle resident stem cells that maintain postnatal muscle growth and repair. Here, we used MyoDCre/Lkb1flox/flox mice (called MyoD‐Lkb1) to delete Lkb1 in embryonic myogenic progenitors and their descendant satellite cells and myofibers. The MyoD‐Lkb1 mice exhibit a severe myopathy characterized by central nucleated myofibers, reduced mobility, growth retardation, and premature death. Although tamoxifen‐induced postnatal del...
Source: Stem Cells - October 14, 2014 Category: Stem Cells Authors: Tizhong Shan, Pengpeng Zhang, Xinrong Liang, Pengpeng Bi, Feng Yue, Shihuan Kuang Tags: Regenerative Medicine Source Type: research

G.p.198
The pathophysiology of SEPN1-related myopathy (SEPN1-RM), due to inherited defects of Selenoprotein N (SelN, encoded by SEPN1), remains poorly understood. Previously we reported an increase in intracellular oxidant activity and protein carbonylation in human muscle cells devoid of SelN, suggesting a key role of SelN in antioxidant protection. In parallel, sepn1−/− mice have been shown to have defective muscle repair and depletion of the satellite cell population after repeated injury. To clarify the so-far unknown underlying mechanisms, we quantified SEPN1 expression and ROS levels in different populations of muscle st...
Source: Neuromuscular Disorders - October 1, 2014 Category: Neurology Authors: S. Arbogast, J. Rowell, A. Pannérec, C. Serreri, C. Ramahefasolo, Source Type: research

G.p.286
In silico prediction tools for genetic variation have now become the commodity in genetic analysis. Each tool utilizes their own algorithm to give us the results. Dysferlin (DYSF) is a transmembrane protein, crucial for sarcolemmal repair, and its recessive genetic defects bring about progressive muscular weakness either as Miyoshi distal myopathy or limb girdle muscular dystrophy 2B. The Leiden database lists one of the most corroborating data set on the pathogenicity of each genotype in the field of muscular dystrophy.
Source: Neuromuscular Disorders - October 1, 2014 Category: Neurology Authors: , S.J. Hwang, D.S. Kim, J.H. Shin Source Type: research

G.p.285
Dysferlin is a protein of the ferlin family predominantly expressed in heart and skeletal muscle. The 230kDa type II transmembrane protein contains seven C2 domains and localizes to the T-tubule system and the plasma membrane in skeletal muscle. Mutations in the dysferlin gene lead to LGMD2B and Miyoshi Myopathy. Dysferlin is involved in skeletal muscle membrane repair, regeneration and biogenesis of the T-tubule system but the precise molecular function of dysferlin is so far unknown. Here we show that full-length dysferlin is able to bind phospholipids, especially PI (4,5) P2 (PIP2), an important phospholipid within the T-tubule membrane.
Source: Neuromuscular Disorders - October 1, 2014 Category: Neurology Authors: , S. Thoms, L. Klinge Source Type: research

G.P.285: Membrane and phospholipid binding properties of dysferlin
Dysferlin is a protein of the ferlin family predominantly expressed in heart and skeletal muscle. The 230kDa type II transmembrane protein contains seven C2 domains and localizes to the T-tubule system and the plasma membrane in skeletal muscle. Mutations in the dysferlin gene lead to LGMD2B and Miyoshi Myopathy. Dysferlin is involved in skeletal muscle membrane repair, regeneration and biogenesis of the T-tubule system but the precise molecular function of dysferlin is so far unknown. Here we show that full-length dysferlin is able to bind phospholipids, especially PI (4,5) P2 (PIP2), an important phospholipid within the ...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: J. Hofhuis, S. Thoms, L. Klinge Source Type: research

G.P.286: Validation of in silico variation effect prediction tools in missense mutations of dysferlinopathy
In this study, we compared the in silico analysis results and the published pathogenicity of the dysferlin mutations listed on Leiden database. We suggest a new cut-off value that can be optimally used to test a new mutation with in silico tools. We used PROVEAN and SIFT online software to predict a possibly damaging mutation. This is a prediction tool used mainly to test the impact on the biological function of a protein by a missense mutation or amino acid substitution. We used the Leiden open variation database on dysferlin mutations and utilized the complete sequence variants data provided by the website. PROVEAN tool ...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: J.S. Park, S.J. Hwang, D.S. Kim, J.H. Shin Source Type: research

G.P.198: Selenoprotein N and oxidative stress are novel regulators of myogenesis and muscle cell stemness
The pathophysiology of SEPN1-related myopathy (SEPN1-RM), due to inherited defects of Selenoprotein N (SelN, encoded by SEPN1), remains poorly understood. Previously we reported an increase in intracellular oxidant activity and protein carbonylation in human muscle cells devoid of SelN, suggesting a key role of SelN in antioxidant protection. In parallel, sepn1−/− mice have been shown to have defective muscle repair and depletion of the satellite cell population after repeated injury. To clarify the so-far unknown underlying mechanisms, we quantified SEPN1 expression and ROS levels in different populations of muscle st...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: S. Arbogast, J. Rowell, A. Pannérec, C. Serreri, C. Ramahefasolo, A. Ferreiro Source Type: research

G.P.148: FHL1 mutations are causing familial aortic and other arterial aneurysms with scapuloperoneal myopathy
Familial aortic and other arterial aneurysms have been associated with Marfan syndrome, usually related to mutation in FBN1, and mutations in TGFBR1, TGFBR2, ACTA2, MYH11, and SMAD3. FHL1 mutations have been associated with various disorders that include reducing body myopathy (RBM), Emery–Dreifuss-like muscular dystrophy, isolated hypertrophic cardiomyopathy, and some overlapping conditions. So far no aortic diseases have been reported in these patients. Here we report a German family with a scapuloperoneal myopathy and aortic and other arterial aneurysms in two patients. Patient 1 had an aneurysm of the sinus of Valsal...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: J. Schessl, W. Kress, S. Feldkirchner, B. Schoser Source Type: research

G.P.45: Therapy of the dynamin 2-linked centronuclear myopathy by mRNA repair using Spliceosome-Mediated RNA Trans-splicing (SMarT) strategy
The autosomal dominant centronuclear myopathy (AD-CNM) is a rare congenital myopathy defined by skeletal muscle weakness and characteristic histopathological changes. Heterozygous mutations in the DNM2 gene are associated with entire clinical spectrum of AD-CNM. DNM2 gene encodes dynamin 2 (DNM2), a large GTPase ubiquitously expressed and involved in membrane trafficking. A Knock-In mouse model (KI-Dnm2R465W) expressing the most frequent mutation found in patients has been recently developed in the laboratory. The heterozygous mice progressively develop a muscle phenotype which recapitulates many aspects of the human condi...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: D. Trochet, B. Prudhon, A. Jollet, M. Bitoun Source Type: research

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