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muscular disease

Fabien Hubert, Sandy M Payan, Francesca Rochais
Essential muscular organ that provides the whole body with oxygen and nutrients, the heart is the first organ to function during embryonic development. Cardiovascular diseases, including acquired and congenital heart defects, are the leading cause of mortality in industrialized countries. Fibroblast Growth Factors (FGFs) are involved in a variety of cellular responses including proliferation, differentiation, and migration. Among the 22 human/mouse FGFs, the secreted FGF10 ligand through the binding of its specific receptors (FGFR1b and FGFR2b) and subsequent activation of downstream signaling is known to play essential role in cardiac development, homeostasis and disease...
2018: Frontiers in Genetics
Raffaella Cascella, Claudia Strafella, Valerio Caputo, Rosaria Maria Galota, Valeria Errichiello, Marianna Scutifero, Roberta Petillo, Gian Luca Marella, Mauro Arcangeli, Luca Colantoni, Stefania Zampatti, Enzo Ricci, Giancarlo Deidda, Luisa Politano, Emiliano Giardina
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder which is typically transmitted by an autosomal dominant pattern, although reduced penetrance and sporadic cases caused by de novo mutations, are often observed. FSHD may be caused by a contraction of a repetitive element, located on chromosome 4 (4q35). This locus is named D4Z4 and consists of 11 to more than 100 repeated units (RU). The D4Z4 is normally hypermethylated and the genes located on this locus are silenced. In case of FSHD, the D4Z4 region is characterized by 1-10 repeats and results in the region being hypomethylated...
2018: Frontiers in Neurology
Yusuke Echigoya, Kenji Rowel Q Lim, Akinori Nakamura, Toshifumi Yokota
Duchenne muscular dystrophy (DMD), a fatal X-linked recessive disorder, is caused mostly by frame-disrupting, out-of-frame deletions in the dystrophin ( DMD ) gene. Antisense oligonucleotide-mediated exon skipping is a promising therapy for DMD. Exon skipping aims to convert out-of-frame mRNA to in-frame mRNA and induce the production of internally-deleted dystrophin as seen in the less severe Becker muscular dystrophy. Currently, multiple exon skipping has gained special interest as a new therapeutic modality for this approach...
December 7, 2018: Journal of Personalized Medicine
Ryohei Kufukihara, Naoya Niwa, Ryuichi Mizuno, Kentaro Ohara, Shuji Mikami, Eiji Kikuchi, Mototsugu Oya
Immunoglobulin G4-related disease (IgG4-RD) is a recently described inflammatory disease with multiorgan involvement. Although there were reports of IgG4-related kidney disease or prostatitis, this disease rarely presents in the bladder. In this report, we describe a case of IgG4-RD arising from bladder wall. This patient had a past history of autoimmune pancreatitis and presented with incidental bladder tumor. Magnetic resonance imaging showed low signal intensity tumor on T2-weighted image, and no invasion to the muscular layer...
December 13, 2018: Urologia Internationalis
Lucia Ruggiero, Rosa Iodice, Marcello Esposito, Raffaele Dubbioso, Stefano Tozza, Floriana Vitale, Lucio Santoro, Fiore Manganelli
Background: Ataluren was approved for the treatment of nmDMD, both the efficacy and safety have been previously reported only from clinical trials but no report exists about real-life experience. Patient/methods: we describe three Italian children with nmDMD treated with ataluren for 1 year. Measurements were made every 3 months and was evaluated the 6-Minute Walking Distance (6MWD). Results: Case1 involves a patient with a 6MWD at T0 of 360 m, who started ataluren therapy at age 10 years...
2018: Therapeutic Advances in Neurological Disorders
Sung-Jin Kim, Yeon-Cheol Park, Yong-Hyeon Baek, Byung-Kwan Seo
Wilting disorder is an abnormal condition characterized by weakness and paralysis of the upper and lower extremities. Pathogenesis and treatment target of the disorder are unclear; hence, allopathic treatment is generally used to relieve the symptoms. To investigate the treatment mechanism and effect of Traditional Korean Medicine (TKM) in patients with wilting disorder, we reviewed in vivo studies that focused on the effect of TKM on the main symptoms of wilting disorder and treatment of the diseases that can cause these symptoms...
2018: Evidence-based Complementary and Alternative Medicine: ECAM
Peng Sun, Kunhang Jia, Chunbing Zheng, Xinlei Zhu, Jing Li, Liang He, Stefan Siwko, Feng Xue, Mingyao Liu, Jian Luo
The key signaling networks regulating bone marrow mesenchymal stem cells (BMSCs) are poorly defined. Lgr4, which belongs to the leucine-rich repeat-containing G protein-coupled receptor (LGR) family, is widely expressed in multiple tissues from early embryogenesis to adulthood. We investigated whether Lgr4 functions in BMSCs and in osteogenesis, adipogenesis, and skeletal myoblasts, using mice with a β-geo gene trap inserted into the Lgr4 gene. Abundant Lgr4 expression was detected in skeletal, adipose and muscular tissue of Lgr4+/- mice at E16...
December 7, 2018: Journal of Cellular Physiology
Rashin Mohseni, Mahmood Reza Ashrafi, Jafar Ai, Mahin Nikougoftar, Mahmoud Mohammadi, Masood Ghahvechi-Akbari, Alireza Shoae-Hassani, Amir Ali Hamidieh
Cell therapy and stem cell transplantation strategies have provided potential therapeutic approaches for the treatment of neurological disorders. Adipose-derived mesenchymal stem cells (ADMSCs) are abundant adult stem cells with low immunogenicity, which can be used for allogeneic cell replacement therapies. Differentiation of ADMSCs into acetylcholine-secreting motoneurons (MNs) is a promising treatment for MN diseases, such as spinal muscular atrophy (SMA), which is associated with the level of SMN1 gene expression...
December 7, 2018: Journal of Molecular Neuroscience: MN
Davide Randazzo, Umara Khalique, Joseph J Belanto, Aster Kenea, Dana M Talsness, John T Olthoff, Michelle D Tran, Kristien J Zaal, Katherine Pak, Iago Pinal-Fernandez, Andrew L Mammen, Dan Sackett, James M Ervasti, Evelyn Ralston
In healthy adult skeletal muscle fibers microtubules form a three-dimensional grid-like network. In the mdx mouse, a model of Duchenne muscular dystrophy (DMD), microtubules are mostly disordered, without periodicity. These microtubule defects have been linked to the mdx mouse pathology. We now report that increased expression of the beta 6 class V β-tubulin (tubb6) contributes to the microtubule changes of mdx muscles. Wild-type muscle fibers overexpressing GFP-tubb6 (but not GFP-tubb5) have disorganized microtubules whereas mdx muscle fibers depleted of tubb6 (but not of tubb5) normalize their microtubules, suggesting that increasing tubb6 is toxic...
December 6, 2018: Human Molecular Genetics
Diana Gherman, Cristiana Iulia Dumitrescu, Andra Ciocan, Carmen Stanca Melincovici
Diabetes mellitus is the leading cause of non-traumatic amputations worldwide. Ulcer of the diabetic foot is one of the most prevalent lesions of diabetic patients and it occurs in the natural evolution of the disease as a tardive complication. Neuropathy is the main determinant of foot ulcer. A key role is played by the loss of sensitive nerves, which prove to be a protective barrier against high pressure applied otherwise on the foot. The morphopathological characteristics of neuropathic lesions in patients with diabetes show important improvement associated with the pressure relieving treatment strategies...
2018: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
Roger Mariné-Casadó, Cristina Domenech-Coca, Josep Maria Del Bas, Cinta Bladé, Lluís Arola, Antoni Caimari
We previously demonstrated that chronic exposure to different photoperiods induced marked variations in several glucose and lipid metabolism-related parameters in normoweight Fischer 344 (F344) rats. Here, we examined the effects of the combination of an obesogenic cafeteria diet (CAF) and the chronic exposure to three different day lengths (L12, 12 h light/day; L18, 18 h light/day; and L6, 6 h light/day) in this rat strain. Although no changes were observed during the first 4 weeks of adaptation to the different photoperiods in which animals were fed a standard diet, the addition of the CAF for the subsequent 7 weeks triggered profound physiologic and metabolic alterations in a photoperiod-dependent manner...
2018: Frontiers in Physiology
Mutsuki Kuraoka, Yuko Nitahara-Kasahara, Hisateru Tachimori, Naohiro Kato, Hiroyuki Shibasaki, Akihiko Shin, Yoshitsugu Aoki, En Kimura, Shin'ichi Takeda
Duchenne muscular dystrophy (DMD) is an X-linked muscle disorder characterized by primary muscle degeneration. Patients with DMD reveal progressive muscle weakness leading to ambulatory dysfunction. Novel outcome measures are needed for more sensitive evaluation of therapeutic effects in clinical trials. Multiple parameters of acceleration and angular velocity are used as efficient indicators to quantify the motion of subjects, and these parameters have been recently applied for evaluation of motor function in DMD...
2018: PloS One
Jared W Skinner, Evangelos A Christou, Chris J Hass
BACKGROUND AND PURPOSE: Adequate lower limb strength and motor control are essential for mobility and quality of life. People with Parkinson disease (PD) experience a significant and progressive decline in motor capabilities as part of this neurodegenerative disease. The primary objective of this study was to examine the effect of PD on (1) muscular strength and (2) force steadiness in muscles that are primarily responsible for locomotion and stability. METHODS: Thirteen persons with PD and 13 healthy age-matched controls participated...
January 2019: Journal of Neurologic Physical Therapy: JNPT
Alicia Alonso-Jimenez, Rosemarie H M J M Kroon, Aida Alejaldre-Monforte, Claudia Nuñez-Peralta, Corinne G C Horlings, Baziel G M van Engelen, Montse Olivé, Laura González, Enric Verges-Gil, Carmen Paradas, Celedonio Márquez, Matteo Garibaldi, Pía Gallano, Maria José Rodriguez, Lidia Gonzalez-Quereda, Cristina Dominguez Gonzalez, John Vissing, Freja Fornander, Anne-Sofie Vibæk Eisum, Tania García-Sobrino, Julio Pardo, Roberto García-Figueiras, Nuria Muelas, Juan Jesús Vilchez, Solange Kapetanovic, Giorgio Tasca, Mauro Monforte, Enzo Ricci, María Teresa Gomez, Jorge Alfredo Bevilacqua, Jorge Diaz-Jara, Ivonne Ingrid Zamorano, Robert Yves Carlier, Pascal Laforet, Ana Pelayo-Negro, Alba Ramos-Fransi, Amaia Martínez, Chiara Marini-Bettolo, Volker Straub, Gerardo Gutiérrez, María Asunción Martín, Germán Morís, Roberto Fernández-Torrón, Adolfo Lopez De Munaín, Elena Cortes-Vicente, Luis Querol, Ricardo Rojas-García, Isabel Illa, Jordi Diaz-Manera
BACKGROUND AND OBJECTIVE: Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts of patients with OPMD, but larger imaging studies have not been performed. Previous imaging studies have been too small to be able to correlate imaging findings to genetic and clinical data. METHODS: We present cross-sectional, T1-weighted muscle MRI and CT-scan data from 168 patients with genetically confirmed OPMD...
December 8, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
Keren Turjeman, Nurit Yanay, Moran Elbaz, Yaelle Bavli, Moria Gross BSc, Malcolm Rabie, Yechezkel Barenholz, Yoram Nevo
Glucocorticosteroids are the most efficacious anti-inflammatory agents and the gold standard treatment in Duchenne muscular dystrophy (DMD). However, their chronic use may lead to severe side effects. We evaluated the use of a novel injectable steroidal nano-drug in mdx mouse model of DMD by comparing the efficacy of nano-liposomes remotely loaded with the steroid prodrug, methylprednisolone hemisuccinate (MPS) with the same steroid as-is, in short (4-weeks) and long-term (58-weeks) treatments. Liposomal-MPS, were selectively targeted to the mouse diaphragm, the most dystrophic muscle at early stage of the disease...
December 7, 2018: Nanomedicine: Nanotechnology, Biology, and Medicine
René Günther, Christoph Neuwirth, Jan Christoph Koch, Paul Lingor, Nathalie Braun, Robert Untucht, Daniel Petzold, Markus Weber, Andreas Hermann
OBJECTIVE: There is still insufficient knowledge about natural history in adult spinal muscular atrophy, thus valid markers for treatment and disease monitoring are urgently needed. METHODS: We studied hand muscle innervation pattern of 38 adult genetically confirmed 5q spinal muscular atrophy (SMA) patients by the motor unit number index (MUNIX) method. Data were compared to healthy controls and amyotrophic lateral sclerosis (ALS) patients and systematically correlated to typical disease-relevant scores and other clinical as well as demographic characteristics...
November 24, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Hiroaki Kurata, Masayuki Ochiai, Hirosuke Inoue, Masako Ichiyama, Kazuaki Yasuoka, Junko Fujiyoshi, Yuki Matsushita, Satoshi Honjo, Yasunari Sakai, Shouichi Ohga
OBJECTIVES: Tracheostomy is indicated for very-low-birth-weight infants (VLBWIs) with prolonged respiratory problems during the perinatal period. The objective of this study is to clarify the epidemiology and risk factors in VLBWIs with tracheostomy after birth in Japan. METHODS: A total of 40 806 VLBWIs were registered in the Neonatal Research Network of Japan database from 2003 to 2012. Among them, 34 674 infants (85%) survived over 28 days after birth and were subjected to this study...
December 7, 2018: Pediatric Pulmonology
Meriem Mostefa Kara, Lucile Houyel, Damien Bonnet
The aim of this study was to analyse the anatomy of the ventricular septal defect (VSD) in heart specimens with interruption of the aortic arch (IAA) in order to explore the hypothesis of different embryologic mechanisms for the different anatomic types of IAA. We examined 42 human heart specimens, 25 with IAA as the main disease with concordant atrioventricular and ventriculo-arterial connections and two distinct great arteries, and 17 hearts with IAA associated with other malformations [six common arterial trunk (CAT), five double-outlet right ventricle (DORV), three transposition of the great arteries (TGA), three atrioventricular septal defect (AVSD)]...
December 7, 2018: Journal of Anatomy
Guangbin Xia, Naohiro Terada, Tetsuo Ashizawa
Purpose of Review: Muscular dystrophies (MDs) are a spectrum of muscle disorders, which are caused by a number of gene mutations. The studies of MDs are limited due to lack of appropriate models, except for Duchenne muscular dystrophy (DMD), myotonic dystrophy type 1 (DM1), facioscapulohumeral muscular dystrophy (FSHD), and certain type of limb-girdle muscular dystrophy (LGMD). Human induced pluripotent stem cell (iPSC) technologies are emerging to offer a useful model for mechanistic studies, drug discovery, and cell-based therapy to supplement in vivo animal models...
2018: Current Stem Cell Reports
Jared M Gollie, Michael O Harris-Love, Samir S Patel, Sholey Argani
Skeletal muscle wasting has gained interest as a primary consequence of chronic kidney disease (CKD) due to the relationship between skeletal muscle mass, mortality and major adverse cardiovascular events in this population. The combination of reductions in physical function, skeletal muscle performance and skeletal muscle mass places individuals with CKD at greater risk of sarcopenia. Therefore the monitoring of skeletal muscle composition and function may provide clinical insight into disease progression...
December 2018: Clinical Kidney Journal
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