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https://www.readbyqxmd.com/read/29352809/a-novel-plec-nonsense-homozygous-mutation-c-7159g%C3%A2-%C3%A2-t-p-glu2387-causes-epidermolysis-bullosa-simplex-with-muscular-dystrophy-and-diffuse-alopecia-a-case-report
#1
Zoe Argyropoulou, Lu Liu, Linda Ozoemena, Claudia C Branco, Raquel Senra, Ângela Reis-Rego, Luisa Mota-Vieira
BACKGROUND: Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD; OMIM #226670) is an autosomal recessive disease, characterized mainly by skin blistering at birth or shortly thereafter, progressive muscle weakness, and rarely by alopecia. EBS-MD is caused by mutations in the PLEC gene (OMIM *601282), which encodes plectin, a structural protein expressed in several tissues, including epithelia and muscle. We describe a patient affected with EBS-MD and diffuse alopecia in which we identified a novel pathogenic mutation by PCR amplification of all coding exons and exon-intron boundaries of PLEC gene, followed by bidirectional Sanger sequencing...
January 20, 2018: BMC Dermatology
https://www.readbyqxmd.com/read/29352407/-rhegmatogenous-retinal-detachment-epidemiology-and-risk-factors
#2
N E Bechrakis, A Dimmer
The incidence of rhegmatogenous retinal detachment in the European population is approximately 10 cases per 100,000 inhabitants per year and reaches a peak in the 6th and 7th decades of life, mostly in atemporal association with posterior vitreous body detachment. Known risk factors include myopia and higher axial length of the eye, male gender, previous trauma and vitreoretinal degeneration or dystrophy. In recent years, an increase in the risk of rhegmatogenous retinal detachment following cataract surgery was also found, especially after capsule rupture and vitreous body loss...
January 19, 2018: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/29352121/efficient-differentiation-of-human-pluripotent-stem-cells-into-skeletal-muscle-cells-by-combining-rna-based-myod1-expression-and-pou5f1-silencing
#3
Tomohiko Akiyama, Saeko Sato, Nana Chikazawa-Nohtomi, Atsumi Soma, Hiromi Kimura, Shunichi Wakabayashi, Shigeru B H Ko, Minoru S H Ko
Direct generation of skeletal muscle cells from human pluripotent stem cells (hPSCs) would be beneficial for drug testing, drug discovery, and disease modelling in vitro. Here we show a rapid and robust method to induce myogenic differentiation of hPSCs by introducing mRNA encoding MYOD1 together with siRNA-mediated knockdown of POU5F1 (also known as OCT4 or OCT3/4). This integration-free approach generates functional skeletal myotubes with sarcomere-like structure and a fusion capacity in several days. The POU5F1 silencing facilitates MYOD1 recruitment to the target promoters, which results in the significant activation of myogenic genes in hPSCs...
January 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29351619/repairing-folding-defective-%C3%AE-sarcoglycan-mutants-by-cftr-correctors-a-potential-therapy-for-limb-girdle-muscular-dystrophy-2d
#4
Marcello Carotti, Justine Marsolier, Michela Soardi, Elisa Bianchini, Chiara Gomiero, Chiara Fecchio, Sara F Henriques, Romeo Betto, Roberta Sacchetto, Isabelle Richard, Dorianna Sandonà
Limb Girdle Muscular Dystrophy type 2D (LGMD2D) is a rare autosomal-recessive disease, affecting striated muscle, due to mutation of SGCA, the gene coding for α-sarcoglycan. Nowadays more than 50 different SGCA missense mutations have been reported. They are supposed to impact folding and trafficking of α-sarcoglycan because the defective polypeptide, although potentially functional, is recognized and disposed of by the quality control of the cell. The secondary reduction of α-sarcoglycan partners, β-, γ- and δ-sarcoglycan, disrupts a key membrane complex that, associated to dystrophin, contributes to assure sarcolemma stability during muscle contraction...
January 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29351413/mitochondrial-content-is-preserved-throughout-disease-progression-in-the-mdx-mouse-model-of-duchenne-muscular-dystrophy-regardless-of-taurine-supplementation
#5
Robert G Barker, Victoria L Wyckelsma, Hongyang Xu, Robyn M Murphy
Mitochondrial dysfunction is a pathological feature of Duchenne muscular Dystrophy (DMD), a debilitating and fatal neuromuscular disorder characterised by progressive muscle wasting and weakness. Mitochondria are a source of cellular ATP and involved in Ca2+ regulation and apoptotic signalling. Ameliorating aberrant mitochondrial function has therapeutic potential for reducing DMD disease severity. The dystrophic mdx mouse exhibits peak muscle damage at 21-28d which stabilises after 8 weeks. The amino acid taurine is implicated in mitochondrial health and function, with endogenous concentrations low when measured during the cycle of peak muscle damage in mdx mice...
December 20, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29351412/expression-of-ctgf-ccn2-in-response-to-lpa-is-stimulated-by-fibrotic-extracellular-matrix-via-the-integrin-fak-axis
#6
Camilo Riquelme-Guzman, Osvaldo Contreras, Enrique Brandan
Fibrosis is a common feature of several chronic diseases, and is characterized by exacerbated accumulation of extracellular matrix (ECM). Understanding the cellular and molecular mechanisms involved in the development of this condition is crucial for designing efficient treatments for those pathologies. Connective tissue growth factor (CTGF/CCN2) is a pleiotropic protein with strong pro-fibrotic activity. In this report, we present experimental evidence showing that ECM stimulates the synthesis of CTGF in response to lysophosphatidic acid (LPA)...
December 27, 2017: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/29351004/duchenne-muscular-dystrophy-dmd-an-updated-review-of-common-available-therapies
#7
Arash Salmaninejad, Saeed Farajzadeh Valilou, Hadi Bayat, Nader Ebadi, Abdolreza Daraei, Meysam Yousefi, Abolfazl Nesaei, Majid Mojarrad
Duchenne muscular dystrophy (DMD) is a lethal progressive pediatric muscle disorder and genetically inherited as an X-linked disease that caused by mutations in the dystrophin gene. DMD leads to progressive muscle weakness, degeneration, and wasting; finally, follows with the premature demise in affected individual's due to respiratory and/or cardiac failure typically by age of 30. For decades, scientists tried massively to find an effective therapy method, but there is no absolute cure currently for patients with DMD, nevertheless, recent advanced progressions on the treatment of DMD will be hopeful in the future...
January 19, 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/29350766/untangling-the-complexity-of-limb-girdle-muscular-dystrophies
#8
REVIEW
Teerin Liewluck, Margherita Milone
Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous, autosomal inherited muscular dystrophies with childhood-to-adult onset, manifesting with hip and shoulder girdle muscle weakness. When the term LGMD was first conceptualized in 1954, it was thought to be a single entity. Currently, there are 8 autosomal dominant (LGMD1A-1H) and 26 autosomal recessive (LGMD2A-2Z) variants according to the Online Mendelian Inheritance in Man database. In addition, there are other genetically-identified muscular dystrophies with a LGMD phenotype not yet classified as LGMD...
January 19, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29350686/fuchs-endothelial-corneal-dystrophy-and-macular-drusen-evidence-for-coincidence
#9
M Matthaei, E Elsner, A Caramoy, W Adler, S Siebelmann, F Schaub, C Skevas, S Liakopoulos, B Bachmann, C Cursiefen, L M Heindl
No abstract text is available yet for this article.
January 19, 2018: Eye
https://www.readbyqxmd.com/read/29349732/membranous-glomerulonephritis-with-an-lmna-mutation
#10
Kumi Fujita, Kazuhiro Hatta
We had encountered the case of membranous glomerulonephritis (MGN) with dilated cardiomyopathy due to LMNA gene mutation. LMNA mutation was known as a cause of 'laminopathy' such as dilated cardiomyopathy, muscular dystrophy, neuropathy and so on. LMNA gene might be a candidate of genetic basis in cryptogenic MGN.
January 18, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29346715/duchenne-muscular-dystrophy-caused-by-a-novel-deep-intronic-dmd-mutation
#11
Matthew R Ginsberg, Andrew J McCarty, David Lacomis, Hoda Z Abdel-Hamid
No abstract text is available yet for this article.
January 18, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29346286/a-more-efficient-transportable-and-scalable-system-for-real-time-activities-and-exercises-recognition
#12
Kévin Chapron, Valère Plantevin, Florentin Thullier, Kévin Bouchard, Elise Duchesne, Sébastien Gaboury
Many people in the world are affected by muscle wasting, especially the population hits by myotonic dystrophy type 1 (DM1). Those people are usually given a program of multiple physical exercises to do. While DM1 and many other people have difficulties attending commercial centers to realize their program, a solution is to develop such a program completable at home. To this end, we developed a portable system that patients could bring home. This prototype is an improved version of the previous one using Wi-Fi, as this new prototype runs on BLE technology...
January 18, 2018: Sensors
https://www.readbyqxmd.com/read/29345014/human-induced-pluripotent-stem-cell-models-of-retinitis-pigmentosa
#13
REVIEW
Ana Artero Castro, Dunja Lukovic, Pavla Jendelova, Slaven Erceg
Hereditary retinal dystrophies, specifically retinitis pigmentosa (RP) are clinically and genetically heterogeneous diseases affecting primarily retinal cells and retinal pigment epithelial (RPE) cells with blindness as a final outcome. Understanding the pathogenicity behind these diseases has been largely precluded by the unavailability of affected tissue from patients, large genetic heterogeneity and animal models that do not faithfully represent some human diseases. A landmark discovery of human induced pluripotent stem cells (hiPSC) permitted the derivation of patient-specific cells...
January 18, 2018: Stem Cells
https://www.readbyqxmd.com/read/29343751/altered-power-spectral-density-in-the-resting-state-sensorimotor-network-in-patients-with-myotonic-dystrophy-type-1
#14
Jin-Sung Park, Jeehye Seo, Hyunsil Cha, Hui-Jin Song, Sang-Hoon Lee, Kyung Eun Jang, Hui Joong Lee, Juyoung Park, Ho-Won Lee, Yongmin Chang
Myotonic dystrophy type 1 (DM1) is a multisystemic disease that involves the brain with several neurological symptoms. Although there were few imaging studies on DM1, no studies have investigated functional alterations in the sensorimotor network at rest in patients with DM1. In the current study, a power spectral density (PSD) analysis of resting-state fMRI data was performed to assess possible alteration in spontaneous neural activity of the sensorimotor network in patients with DM1. Compared to healthy controls, patients with DM1 showed higher PSD responses in the orbitofrontal cortex, parahippocampus and basal ganglia (corrected P < 0...
January 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29343633/hydrogel-biomaterials-and-their-therapeutic-potential-for-muscle-injuries-and-muscular-dystrophies
#15
REVIEW
Rachel Lev, Dror Seliktar
Muscular diseases such as muscular dystrophies and muscle injuries constitute a large group of ailments that manifest as muscle weakness, atrophy or fibrosis. Although cell therapy is a promising treatment option, the delivery and retention of cells in the muscle is difficult and prevents sustained regeneration needed for adequate functional improvements. Various types of biomaterials with different physical and chemical properties have been developed to improve the delivery of cells and/or growth factors for treating muscle injuries...
January 2018: Journal of the Royal Society, Interface
https://www.readbyqxmd.com/read/29343529/quarter-descemet-membrane-endothelial-keratoplasty-quarter-dmek-for-fuchs-endothelial-corneal-dystrophy-6-months-clinical-outcome
#16
Vasiliki Zygoura, Lamis Baydoun, Lisanne Ham, Vincent J A Bourgonje, Korine van Dijk, Jessica T Lie, Isabel Dapena, Silke Oellerich, Gerrit R J Melles
BACKGROUND/AIM: To assess the clinical outcome of the first series of Quarter-Descemet membrane endothelial keratoplasty (Quarter-DMEK), a potential hybrid technique between 'descemetorhexis only' and conventional, circular DMEK. METHODS: Prospective interventional case series at a tertiary referral centre. Twelve eyes of 12 patients with central Fuchs endothelial corneal dystrophy underwent Quarter-DMEK, that is, transplantation of one quadrant of a full-diameter DMEK graft, and were evaluated for best-corrected visual acuity (BCVA), endothelial cell density (ECD) and complications up to 6 months postoperatively...
January 17, 2018: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29343467/hearing-impairment-in-patients-with-myotonic-dystrophy-type-2
#17
Judith van Vliet, Alide A Tieleman, Baziel G M van Engelen, Guillaume Bassez, Laurent Servais, Anthony Béhin, Tanya Stojkovic, Jan Meulstee, Joost A M Engel, George Lamas, Bruno Eymard, Wim I M Verhagen, Elisabeth Mamelle
OBJECTIVE: To systematically assess auditory characteristics of a large cohort of patients with genetically confirmed myotonic dystrophy type 2 (DM2). METHODS: Patients with DM2 were included prospectively in an international cross-sectional study. A structured interview about hearing symptoms was held. Thereafter, standardized otologic examination, pure tone audiometry (PTA; 0.25, 0.5, 1, 2, 4, and 8 kHz), speech audiometry, tympanometry, acoustic middle ear muscle reflexes, and brainstem auditory evoked potentials (BAEP) were performed...
January 17, 2018: Neurology
https://www.readbyqxmd.com/read/29342319/validation-of-the-individualized-neuromuscular-quality-of-life-in-japanese-patients-with-myotonic-dystrophy
#18
Haruo Fujino, Toshio Saito, Masanori P Takahashi, Hiroto Takada, Takahiro Nakayama, Katsuhisa Ogata, Michael R Rose, Osamu Imura, Tsuyoshi Matsumura
INTRODUCTION: The Individualized Neuromuscular Quality of Life (INQoL) is used to measure the quality of life (QoL) of patients with neuromuscular disease. We conducted this study to translate and validate the Japanese version of the INQoL in patients with myotonic dystrophy. METHODS: Forward and backward translation, patient testing, and psychometric validation were performed. We used the SF-36 Health Survey and the modified Rankin scale for concurrent validation...
January 17, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29342012/diffuse-chorioretinopathy-without-serous-detachment-associated-with-cardiac-transplantation
#19
Michael F Marmor
PURPOSE: To analyze an unusual case of widespread chorioretinopathy after cardiac transplantation for its potential etiology and clinical significance. METHODS: Clinical examinations included widefield and macular color and fundus autofluorescence photography, spectral domain optical coherence tomography, fluorescein angiography and indocyanine green angiography, full-field electroretinography, and Goldmann visual fields. PATIENT: A 44-year-old Hispanic woman was referred to rule out retinitis pigmentosa...
January 16, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29341299/autonomous-purkinje-cell-axonal-dystrophy-causes-ataxia-in-peroxisomal-multifunctional-protein-2-deficiency
#20
Stephanie De Munter, Dorien Bamps, Ana Rita Malheiro, Ritesh Kumar Baboota, Pedro Brites, Myriam Baes
BACKGROUND: Peroxisomes play a crucial role in normal neurodevelopment and in the maintenance of the adult brain. This depends largely on intact peroxisomal β-oxidation given the similarities in pathologies between peroxisome biogenesis disorders and deficiency of multifunctional protein-2 (MFP2), the central enzyme of this pathway. Recently, adult patients diagnosed with cerebellar ataxia were shown to have mild mutations in the MFP2 gene, hydroxy-steroid dehydrogenase (17 beta) type 4 (HSD17B4)...
January 17, 2018: Brain Pathology
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