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https://www.readbyqxmd.com/read/28351048/retinitis-pigmentosa-and-other-dystrophies
#1
Sarah Mrejen, Isabelle Audo, Sébastien Bonnel, José-Alain Sahel
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations characterized by progressive degeneration of rod and cone cells that affects predominantly peripheral visual fields. Macular edema may cause additional central visual acuity decrease. Cystoid macular edema (CME) is one of the few treatable causes of visual loss in RP. The prevalence of CME in RP has been found to be between 10 and 20% on fluorescein angiography-based studies, and as high as 49% on reports based on optical coherence tomography...
2017: Developments in Ophthalmology
https://www.readbyqxmd.com/read/28346368/pathophysiological-significance-of-dermatan-sulfate-proteoglycans-revealed-by-human-genetic-disorders
#2
REVIEW
Shuji Mizumoto, Tomoki Kosho, Shuhei Yamada, Kazuyuki Sugahara
The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor-β, respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity...
March 27, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/28346276/comparison-of-noncontact-specular-and-confocal-microscopy-for-evaluation-of-corneal-endothelium
#3
Jianyan Huang, Jyotsna Maram, Tudor C Tepelus, Srinivas R Sadda, Vikas Chopra, Olivia L Lee
PURPOSE: To compare endothelial cell analysis obtained by noncontact specular and confocal microscopy, using the Konan NSP-9900 and Nidek ConfoScan4 systems, respectively. METHODS: Three groups including 70 healthy eyes, 49 eyes with Fuchs endothelial corneal dystrophy (FECD), and 78 eyes with glaucoma were examined with both the Konan NSP-9900 specular microscope and the Nidek ConfocScan4 confocal microscope. Certified graders at the Doheny Image Reading Center compared corneal endothelial images from both instruments side by side to assess image quality...
March 24, 2017: Eye & Contact Lens
https://www.readbyqxmd.com/read/28344992/mechanism-of-deletion-removing-all-dystrophin-exons-in-a-canine-model-for-dmd-implicates-concerted-evolution-of-x-chromosome-pseudogenes
#4
D Jake VanBelzen, Alock S Malik, Paula S Henthorn, Joe N Kornegay, Hansell H Stedman
Duchenne muscular dystrophy (DMD) is a lethal, X-linked, muscle-wasting disorder caused by mutations in the large, 2.4-Mb dystrophin gene. The majority of DMD-causing mutations are sporadic, multi-exon, frameshifting deletions, with the potential for variable immunological tolerance to the dystrophin protein from patient to patient. While systemic gene therapy holds promise in the treatment of DMD, immune responses to vectors and transgenes must first be rigorously evaluated in informative preclinical models to ensure patient safety...
March 17, 2017: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/28344651/identification-of-a-novel-dmd-duplication-identified-by-a-combination-of-mlpa-and-targeted-exome-sequencing
#5
Beibei Wu, Liying Wang, Ting Dong, Jiahui Jin, Yili Lu, Huiping Wu, Yue Luo, Xiaoou Shan
BACKGROUND: Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle-wasting disease caused by a mutation in the DMD gene. The aim of this study was to identify a de novo mutation of the DMD gene in the family of a 9-month-old Chinese male patient, as well as to describe the phenotypic characteristics of this patient. RESULTS: The patient was suspected to suffer from DMD according to physical examination, biochemical analyses, and electromyogram. We identified a duplication of exons 4-42 in DMD gene with targeted exome sequencing and multiplex ligation-dependent probe amplification (MLPA)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28344442/voltage-directed-cavo-tricuspid-isthmus-ablation-using-a-novel-ablation-catheter-mapping-technology-in-a-myotonic-dystrophy-type-i-patient
#6
Vincenzo Russo, Anna Rago, Andrea Antonio Papa, Federica Di Meo, Carmine Ciardiello, Giovanni Cimmino, Gerardo Nigro
A successful case of maximum voltage-directed cavo-tricuspid isthmus (CTI) ablation using a novel ablation catheter mapping technology in a myotonic dystrophy type I (DM1) patient is reported. The patient complained recurrent episodes of atrial flutter, revealed by the atrio-ventricular electrograms analysis during the routine pacemaker controls.
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28344440/increased-heterogeneity-of-ventricular-repolarization-in-myotonic-dystrophy-type-1-population
#7
Vincenzo Russo, Andrea Antonio Papa, Anna Rago, Paola D'Ambrosio, Giovanni Cimmino, Alberto Palladino, Luisa Politano, Gerardo Nigro
Sudden cardiac death in myotonic dystrophy type I (DM1) patients can be attributed to atrioventricular blocks as far as to the development of life-threatening arrhythmias which occur even in hearts with normal left ventricular systolic and diastolic function. Heterogeneity of ventricular repolarization is considered to provide an electrophysiological substrate for malignant arrhythmias. QTc dispersion (QTc-D), JTc dispersion (JTc-D) and transmural dispersion of repolarization (TDR) could reflect the physiological variability of regional and transmural ventricular repolarization...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28344439/family-context-in-muscular-dystrophies-psychosocial-aspects-and-social-integration
#8
Lorenza Magliano, Luisa Politano
Muscular dystrophies (MDs) are degenerative diseases which may led to marked functional impairment and reduced life expectancy. Being caregivers of a loved one with MD may be both a rewarding and a demanding experience that may have relevant impact on the quality of life of the whole family. In this short review we summarize the main findings of the first survey on family context in MD in Italy. The study was carried out on 502 key-relatives of patients suffering from Duchenne, Becker, or Limb-Girdle MD, aged between 4 and 25 years, and attending one of 8 participating Centers, all over 2012...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28344438/learning-disabilities-in-neuromuscular-disorders-a-springboard-for-adult-life
#9
Guja Astrea, Roberta Battini, Sara Lenzi, Silvia Frosini, Silvia Bonetti, Elena Moretti, Silvia Perazza, Filippo M Santorelli, Chiara Pecini
Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of children with congenital muscular dystrophies, notwithstanding the presence of cerebral abnormality in some forms, and in spinal muscular atrophies, with the exception of distal spinal muscular atrophy (such as the DYN1CH1- associated form)...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28344437/eplerenone-repolarizes-muscle-membrane-through-na-k-atpase-activation-by-tyr10-dephosphorylation
#10
Simon Breitenbach, Frank Lehmann-Horn, Karin Jurkat-Rott
Eplerenone, an aldosterone antagonist, repolarizes muscle membrane in-vitro and increases strength in-vivo in channelopathies. In Duchenne dystrophy, it is administered for cardiomyopathy. We studied its mechanism of action on skeletal muscle to test its suitability for increasing strength in Duchenne dystrophy. Using membrane potential measurements, quantitative PCR, ELISA, and Western blots, we examined the effects of eplerenone on skeletal muscle Na,K-ATPase. The repolarizing effect of eplerenone in muscle fibres was counteracted by oubain, an ATPase blocker...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28344082/circ-znf609-is-a-circular-rna-that-can-be-translated-and-functions-in-myogenesis
#11
Ivano Legnini, Gaia Di Timoteo, Francesca Rossi, Mariangela Morlando, Francesca Briganti, Olga Sthandier, Alessandro Fatica, Tiziana Santini, Adrian Andronache, Mark Wade, Pietro Laneve, Nikolaus Rajewsky, Irene Bozzoni
Circular RNAs (circRNAs) constitute a family of transcripts with unique structures and still largely unknown functions. Their biogenesis, which proceeds via a back-splicing reaction, is fairly well characterized, whereas their role in the modulation of physiologically relevant processes is still unclear. Here we performed expression profiling of circRNAs during in vitro differentiation of murine and human myoblasts, and we identified conserved species regulated in myogenesis and altered in Duchenne muscular dystrophy...
March 16, 2017: Molecular Cell
https://www.readbyqxmd.com/read/28341475/genotypic-and-phenotypic-characteristics-of-crb1-associated-retinal-dystrophies-a-long-term-follow-up-study
#12
Mays Talib, Mary J van Schooneveld, Maria M van Genderen, Jan Wijnholds, Ralph J Florijn, Jacoline B Ten Brink, Nicoline E Schalij-Delfos, Gislin Dagnelie, Frans P M Cremers, Ron Wolterbeek, Marta Fiocco, Alberta A Thiadens, Carel B Hoyng, Caroline C Klaver, Arthur A Bergen, Camiel J F Boon
PURPOSE: To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies. DESIGN: Retrospective cohort study. PARTICIPANTS: Fifty-five patients with CRB1-associated retinal dystrophies from 16 families. METHODS: A medical record review of 55 patients for age at onset, medical history, initial symptoms, best-corrected visual acuity, ophthalmoscopy, fundus photography, full-field electroretinography (ffERG), Goldmann visual fields (VFs), and spectral-domain optical coherence tomography...
March 13, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28339803/transcriptional-comparison-of-myogenesis-in-leghorn-and-low-score-normal-embryos
#13
J Griffin, N St-Pierre, M S Lilburn, M Wick
In a previous study, we reported on a quantitative transcriptomic method which confirmed the temporal transcription of developmental fast skeletal muscle myosin heavy chain (fsMyHC) embryonic isoforms in the embryonic Pectoralis major (PM) of the Single Comb White Leghorn (SCWL). The objective of the current study was to further investigate the transcriptional events underlying embryonic PM growth in the SCWL and a genotype exhibiting partial muscular dystrophy, the Low Score Normal (LSN). We hypothesized that within the SCWL and LSN embryos, there would be differences in the temporal transcription of the fsMyHC isoforms and other myogenic regulatory genes...
February 21, 2017: Poultry Science
https://www.readbyqxmd.com/read/28339469/non-invasive-evaluation-of-muscle-disease-in-the-canine-model-of-duchenne-muscular-dystrophy-by-electrical-impedance-myography
#14
Chady H Hakim, Alex Mijailovic, Thais B Lessa, Joan R Coates, Carmen Shin, Seward B Rutkove, Dongsheng Duan
Dystrophin-deficient dogs are by far the best available large animal models for Duchenne muscular dystrophy (DMD), the most common lethal childhood muscle degenerative disease. The use of the canine DMD model in basic disease mechanism research and translational studies will be greatly enhanced with the development of reliable outcome measures. Electrical impedance myography (EIM) is a non-invasive painless procedure that provides quantitative data relating to muscle composition and histology. EIM has been extensively used in neuromuscular disease research in both human patients and rodent models...
2017: PloS One
https://www.readbyqxmd.com/read/28339402/outcomes-of-hospitalised-muscular-dystrophy-patients
#15
Ghilas Boussaid, Hélène Prigent, Gilbert Caranhac, Djillali Annane, Christian Devaux, David Orlikowski, Frédéric Lofaso
BACKGROUND: In France, referral centres in teaching hospitals were created 10 years ago to provide MD patients with treatments and follow-up designed to prevent complications and improve outcomes. Respiratory failure is a major cause of death among subjects with MD, and its prevention and treatment can serve as a touchstone for assessing the effectiveness of MD care pathways. OBJECTIVE: We report data from a preliminary study of admissions of MD patients in France and of factors associated with mortality, with special emphasis on respiratory failure [RF]...
March 20, 2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/28338606/dystrophic-cardiomyopathy-potential-role-of-calcium-in-pathogenesis-treatment-and-novel-therapies
#16
REVIEW
Victoria P A Johnstone, Helena M Viola, Livia C Hool
Duchenne muscular dystrophy (DMD) is caused by defects in the DMD gene and results in progressive wasting of skeletal and cardiac muscle due to an absence of functional dystrophin. Cardiomyopathy is prominent in DMD patients, and contributes significantly to mortality. This is particularly true following respiratory interventions that reduce death rate and increase ambulation and consequently cardiac load. Cardiomyopathy shows an increasing prevalence with age and disease progression, and over 95% of patients exhibit dilated cardiomyopathy by the time they reach adulthood...
March 24, 2017: Genes
https://www.readbyqxmd.com/read/28338556/adult-onset-foveomacular-vitelliform-dystrophy-evaluated-by-means-of-optical-coherence-tomography-angiography-a-comparison-with-dry-age-related-macular-degeneration-and-healthy-eyes
#17
Lisa Toto, Enrico Borrelli, Rodolfo Mastropasqua, Luca Di Antonio, Peter A Mattei, Paolo Carpineto, Leonardo Mastropasqua
PURPOSE: To investigate alterations of superficial and deep retinal vascular densities, as well as of choroidal thickness, in patients affected by adult-onset foveomacular vitelliform dystrophy (AOFVD). METHODS: A total of 22 eyes (15 patients) affected by AOFVD were recruited in the study. Furthermore, 20 eyes of 20 healthy subjects and 20 eyes of 18 patients affected by intermediate dry age-related macular degeneration (AMD) were enrolled. All patients underwent a complete ophthalmologic examination, including optical coherence tomography angiography...
March 23, 2017: Retina
https://www.readbyqxmd.com/read/28338488/respiratory-complications-management-and-treatments-for-neuromuscular-disease-in-children
#18
MyMy C Buu
PURPOSE OF REVIEW: To summarize current literature describing the respiratory complications of neuromuscular disease (NMD) and the effect of respiratory interventions and to explore new gene therapies for patients with NMD. RECENT FINDINGS: Measurements of respiratory function focus on vital capacity and maximal inspiratory and expiratory pressure and show decline over time. Management of respiratory complications includes lung volume recruitment, mechanical insufflation-exsufflation, chest physiotherapy and assisted ventilation...
March 23, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28338349/clinical-features-of-children-and-adults-with-a-muscular-dystrophy-using-powered-indoor-outdoor-wheelchairs-disease-features-comorbidities-and-complications-of-disability
#19
Andrew Oliver Frank, Lorraine H De Souza
PURPOSE: To describe the clinical features of electric powered indoor/outdoor wheelchair users with a muscular dystrophy, likely to influence optimal prescription; reflecting features of muscular dystrophies, conditions secondary to disability, and comorbidities impacting on equipment provision. METHODS: Cross-sectional retrospective case note review of recipients of electric powered indoor/outdoor wheelchairs provided by a specialist regional wheelchair service...
February 25, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28337834/retinal-dystrophy-in-two-boys-with-costello-syndrome-due-to-the-hras-p-gly13cys-mutation
#20
Mary Ella Pierpont, Mary Richards, W Keith Engel, Nancy J Mendelsohn, C Gail Summers
Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition to neoplasia. Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings. Both had early symptoms of nystagmus, photophobia, and vision abnormalities...
March 23, 2017: American Journal of Medical Genetics. Part A
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