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https://www.readbyqxmd.com/read/28527585/a-9-year-follow-up-study-of-the-natural-progression-of-upper-limb-performance-in-myotonic-dystrophy-type-1-a-similar-decline-for-phenotypes-but-not-for-gender
#1
Kateri Raymond, Mélanie Levasseur, Jean Mathieu, Johanne Desrosiers, Cynthia Gagnon
This study aimed to document and compare the decline of upper limb performance among adults with myotonic dystrophy type 1 according to phenotype and gender. A longitudinal descriptive design compared upper limb performance at baseline and follow-up of 70 women and 38 men with the late-onset or adult phenotypes. Grip strength and pinch strength as well as gross dexterity and fine dexterity were assessed. All four performance measures decreased significantly (p <0.001). The decline over time was similar for individuals with the late-onset and adult-onset phenotypes, but differed according to gender...
May 2, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28526070/the-golden-retriever-model-of-duchenne-muscular-dystrophy
#2
REVIEW
Joe N Kornegay
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the DMD gene and loss of the protein dystrophin. The absence of dystrophin leads to myofiber membrane fragility and necrosis, with eventual muscle atrophy and contractures. Affected boys typically die in their second or third decade due to either respiratory failure or cardiomyopathy. Despite extensive attempts to develop definitive therapies for DMD, the standard of care remains prednisone, which has only palliative benefits. Animal models, mainly the mdx mouse and golden retriever muscular dystrophy (GRMD) dog, have played a key role in studies of DMD pathogenesis and treatment development...
May 19, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28525563/omics-biomarkers-in-ophthalmology
#3
Susette Lauwen, Eiko K de Jong, Dirk J Lefeber, Anneke I den Hollander
"Omics" refers to high-throughput analyses of genes, proteins, or metabolites in a biological system, and is increasingly used for ophthalmic research. These system-based approaches can unravel disease-related processes and are valuable for biomarker discovery. Furthermore, potential therapeutic targets can be identified based on omics results, and targeted follow-up experiments can be designed to gain molecular understanding of the disease and to test new therapies. Here, we review the application of omics techniques in eye diseases, focusing on age-related macular degeneration (AMD), diabetic retinopathy (DR), retinal detachment (RD), myopia, glaucoma, Fuchs' corneal dystrophy (FCD), cataract, keratoconus, and dry eyes...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28523511/-therapy-resistant-polymyositis-is-the-diagnosis-correct
#4
G Ceccon, H C Lehmann, E Neuen-Jacob, G Meng, G R Fink, G Wunderlich
We report the case of a 32-year-old woman with severely elevated serum creatine kinase (CK; 80,000 U/l) and progressive proximal pareses. As muscular biopsy showed inflammatory infiltrates, polymyositis was suspected and immunosuppressive treatment was initiated. However, clinical improvement could not be achieved. Gene sequencing of the DYSF-gene showed a previously unreported homozygous mutation. In summary, elevated serum CK and inflammatory infiltrates in the muscle biopsy are not specific for polymyositis, but may also occur in degenerative diseases (muscular dystrophy), such as dysferlinopathy...
May 18, 2017: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/28523311/study-concerning-the-histopathological-changes-in-chronic-hepatopathies
#5
Cristian Marius Daina, Lucia Georgeta Daina, Marinela Bonta, Daniela Rahotă, Gabriela MuŢiu
Chronic liver diseases represent a public health problem both at global level and in our country. Their significance is due not only to the large number of cases but also to their severe complications and associated diseases, which increase the gravity of prognosis. Hepatopathies generally develop by formation and accumulation of fibrous tissue, which leads to architectural distortions in the structure of the liver. Hepatic fibrosis is the result of chronic injury and plays a direct role in the pathogenesis of the hepatocellular dysfunction and portal hypertension...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28520860/growing-patients-with-duchenne-muscular-dystrophy-longitudinal-changes-in-their-dentofacial-morphology-and-orofacial-functional-capacities
#6
Fabienne Egli, Sébastien Botteron, Catherine Morel, Stavros Kiliaridis
Aim: The aim of this study was to describe the longitudinal changes in facial morphology, dental arch alterations and oral functional capacities that occur in growing patients with Duchenne muscular dystrophy (DMD) in order to identify the effects of the progression of the disease. Subjects and Methods: Twelve DMD patients (6.5-17.5 years of age) and 12 matched controls were screened on two different occasions (T1 and T2), 2 years apart. Dental casts, lateral cephalometric radiographs, maximal posterior bite force and labial force were measured to determine changes in their functional capacities and dentofacial morphology...
May 17, 2017: European Journal of Orthodontics
https://www.readbyqxmd.com/read/28520806/als-skeletal-muscle-shows-enhanced-tgf-%C3%AE-signaling-fibrosis-and-induction-of-fibro-adipogenic-progenitor-markers
#7
David Gonzalez, Osvaldo Contreras, Daniela L Rebolledo, Juan Pablo Espinoza, Brigitte van Zundert, Enrique Brandan
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease in which upper and lower motoneurons degenerate leading to muscle wasting, paralysis and eventually death from respiratory failure. Several studies indicate that skeletal muscle contributes to disease progression; however the molecular mechanisms remain elusive. Fibrosis is a common feature in skeletal muscle under chronic damage conditions such as those caused by muscular dystrophies or denervation. However, the exact mechanisms of fibrosis induction and the cellular bases of this pathological response are unknown...
2017: PloS One
https://www.readbyqxmd.com/read/28520609/fuchs-endothelial-corneal-dystrophy-in-a-child
#8
Sunita Chaurasia, Muralidhar Ramappa
No abstract text is available yet for this article.
May 16, 2017: Cornea
https://www.readbyqxmd.com/read/28518407/nad-a-big-player-in-cardiac-and-skeletal-muscle-remodeling-and-aging
#9
REVIEW
Pankaj Chaturvedi, Suresh C Tyagi
In the past decade, NAD+ has gained importance for its beneficial effects as antioxidant and antiaging molecule. A paper in science by Zhang et al (2016) has described that NAD+ when replenished, ameliorates muscle dystrophy in mice by improving mitochondrial function. NAD+ was also demonstrated by the authors to improve the life span of mice. Cox et al (2002) demonstrated the cardiac effects of NAD+ which mitigated chronic heart failure via mitochondrial redox state mechanism. Cox et al (2002) also demonstrated that NAD+ is provided in the drinking water, it improves cardiac relaxation in volume overload model of heart failure...
May 18, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28516000/role-of-a-dual-splicing-and-amino-acid-code-in-myopia-cone-dysfunction-and-cone-dystrophy-associated-with-l-m-opsin-interchange-mutations
#10
Scott H Greenwald, James A Kuchenbecker, Jessica S Rowlan, Jay Neitz, Maureen Neitz
PURPOSE: Human long (L) and middle (M) wavelength cone opsin genes are highly variable due to intermixing. Two L/M cone opsin interchange mutants, designated LIAVA and LVAVA, are associated with clinical diagnoses, including red-green color vision deficiency, blue cone monochromacy, cone degeneration, myopia, and Bornholm Eye Disease. Because the protein and splicing codes are carried by the same nucleotides, intermixing L and M genes can cause disease by affecting protein structure and splicing...
May 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28513807/the-nuclear-pore-protein-nup153-associates-with-chromatin-and-regulates-cardiac-gene-expression-in-dystrophic-mdx-hearts
#11
Simona Nanni, Agnese Re, Cristian Ripoli, Aoife Gowran, Patrizia Nigro, Domenico D'Amario, Antonio Amodeo, Filippo Crea, Claudio Grassi, Alfredo Pontecorvi, Antonella Farsetti, Claudia Colussi
Aims: Beyond the control of nuclear-cytoplasmic trafficking nucleoporins regulate gene expression and are involved in cardiac diseases. Notably, a number of cardiovascular disorders have been linked to alterations in epigenetic mechanisms. Here we aimed to determine the contribution of Nup153 to the epigenetic alterations occurring in cardiomyopathy of dystrophin-deficient mdx mice (C57BL/10ScSn-Dmd mdx /J). Methods and results: Nup153 was lysine-acetylated and its expression was significantly increased at protein level in mdx hearts compared with controls...
November 1, 2016: Cardiovascular Research
https://www.readbyqxmd.com/read/28513498/combination-of-phototherapeutic-keratectomy-and-wavefront-guided-photorefractive-keratectomy-for-the-treatment-of-thiel-behnke-corneal-dystrophy
#12
Chia-Chieh Hsiao, Yu-Chih Hou
Phototherapeutic keratectomy (PTK) has been used to treat anterior corneal dystrophy but may cause hyperopic shift or corneal high-order aberration. We describe the successful treatment of a case of a 43-year-old female with Thiel-Behnke corneal dystrophy, using PTK followed by wavefront-guided photorefractive keratectomy (PRK). The patient had high corneal aberration and hyperopic shift after PTK in both eyes. The corneal surface regularity index and surface asymmetric index increased after PTK and decreased after wavefront-guided PRK...
April 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28512194/ancient-antagonism-between-celf-and-rbfox-families-tunes-mrna-splicing-outcomes
#13
Matthew R Gazzara, Michael J Mallory, Renat Roytenberg, John Lindberg, Anupama Jha, Kristen W Lynch, Yoseph Barash
Over 95% of human multi-exon genes undergo alternative splicing, a process important in normal development and often dysregulated in disease. We sought to analyze the global splicing regulatory network of CELF2 in human T cells, a well-studied splicing regulator critical to T cell development and function. By integrating high-throughput sequencing data for binding and splicing quantification with sequence features and probabilistic splicing code models, we find evidence of splicing antagonism between CELF2 and the RBFOX family of splicing factors...
May 16, 2017: Genome Research
https://www.readbyqxmd.com/read/28512129/mammalian-o-mannosylation-of-cadherins-and-plexins-is-independent-of-protein-o-mannosyltransferase-1-and-2
#14
Ida Signe Bohse Larsen, Yoshiki Narimatsu, Hiren Jitendra Joshi, Zhang Yang, Oliver J Harrison, Julia Brasch, Lawrence Shapiro, Barry Honig, Sergey Y Vakhrushev, Henrik Clausen, Adnan Halim
Protein O-mannosylation is found in yeast and metazoans and a family of conserved orthologous protein O-mannosyltransferases is believed to initiate this important post-translational modification. We recently discovered that the cadherin superfamily carries O-linked mannose (O-Man) glycans at highly conserved residues in specific extracellular cadherin domains, and it was suggested that the function of E-cadherin was dependent on the O-Man glycans. Deficiencies in enzymes catalyzing O-Man biosynthesis, including the two human protein O-mannosyltransferases, POMT1 and POMT2, underlie a subgroup of congenital muscular dystrophies (CMD) designated α-dystroglycanopathies, because deficient O-Man glycosylation of -dystroglycan disrupts laminin interaction with -dystroglycan and the extracellular matrix...
May 16, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28511858/reduced-myocardial-reserve-in-young-x-linked-muscular-dystrophy-mice-diagnosed-by-two-dimensional-strain-analysis-combined-with%C3%A2-stress-echocardiography
#15
Zhenzhou Li, Ying Li, Li Zhang, Xiaoying Zhang, Rebecca Sullivan, Xiaojie Ai, Christopher Szeto, Angela Cai, Longjian Liu, Weidong Xiao, Quanshui Li, Shuping Ge, Xiongwen Chen
BACKGROUND: Early, sensitive, and reproducible evaluation of left ventricular function is imperative for the diagnosis of cardiac dysfunction in patients with Duchene muscular dystrophy. The aim of this study was to test the hypothesis that combining two-dimensional strain analysis with catecholamine stress could be a sensitive method for detecting early cardiac dysfunction. METHODS: Mdx (C57BL/10ScSn-Dmdmdx/J, a mouse model of DMD) and control (C57BL/10ScSn) mice were studied with conventional M-mode and high-frequency ultrasound-based two-dimensional speckle-tracking echocardiography using long- and short-axis images of the left ventricle at baseline and after intraperitoneal isoprenaline (ISO) administration (2 μg/g body weight)...
May 13, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28511423/bardet-biedl-syndrome-a-report-of-two-cases-with-otolaryngologic-symptoms
#16
Mahendra K Singh, Shrinkhal, Sidharth Pradhan, Priyanko Chakraborty
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of nyctalopia and mental retardation, and additionally one of them had sensorineural hearing loss while the other had serous otitis media. Hearing loss being a rare presentation is worth reporting. Both the patients were given a course of vitamin A and the parents were counseled regarding the prognosis and additional complications associated with the syndrome...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28510482/rod-outer-segment-development-influences-aav-mediated-photoreceptor-transduction-after-subretinal-injection
#17
Lolita Petit, Shan Ma, Shun-Yun Cheng, Guangping Gao, Claudio Punzo
Vectors based on the adeno-associated virus (AAV) are currently the preferred tools for delivering genes to photoreceptors (PR) in small and large animals. AAVs have been applied successfully in various models of PR dystrophies. However, unknown barriers still limit AAV's efficient application in several forms of severe PR degenerations, due to insufficient transgene expression and/or treated cells at the time of injection. Optimizations of PR gene therapy strategies will likely benefit from the identification of the cellular factors that influence PR transduction...
May 16, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28509411/variations-in-duchenne-muscular-dystrophy-course-in-a-multi-ethnic-uk-population-potential-influence-of-socio-economic-factors
#18
Margaret Hufton, Helen Roper
AIM: To explore variation in clinical course and steroid treatment in Duchenne muscular dystrophy (DMD) by ethnic origin and socio-economic status. METHOD: In this longitudinal cohort study, clinical outcome was defined as age at loss of ambulation (LOA). Ages are presented as months for accurate calculation. Steroid use was reviewed against national guidelines. Kaplan-Meier survival analysis was used to determine probabilities over time of LOA. Log-rank test was used to evaluate comparisons between ethnic and socio-economic groups...
May 16, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28508755/desmoplastic-fibroblastoma-an-unusual-dermal-presentation-on-the-buttock-of-a-patient-with-muscular-dystrophy
#19
Özgür Timurkaynak, Metin Ertem, Hakan Gök, Umit Ince
No abstract text is available yet for this article.
May 16, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28507511/distribution-of-elovl4-in-the-developing-and-adult-mouse-brain
#20
David M Sherry, Blake R Hopiavuori, Megan A Stiles, Negar S Rahman, Kathryn G Ozan, Ferenc Deak, Martin-Paul Agbaga, Robert E Anderson
ELOngation of Very Long chain fatty acids (ELOVL)-4 is essential for the synthesis of very long chain-fatty acids (fatty acids with chain lengths ≥ 28 carbons). The functions of ELOVL4 and its very long-chain fatty acid products are poorly understood at present. However, mutations in ELOVL4 cause neurodevelopmental or neurodegenerative diseases that vary according to the mutation and inheritance pattern. Heterozygous inheritance of different ELOVL4 mutations causes Stargardt-like Macular Dystrophy or Spinocerebellar Ataxia type 34...
2017: Frontiers in Neuroanatomy
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