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https://www.readbyqxmd.com/read/28650875/practical-approach-to-syndromic-pediatric-retinal-dystrophies
#1
Karthikeyan A Sadagopan
PURPOSE OF REVIEW: The purpose of this review is to outline those systemic disorders that are associated with pediatric retinal dystrophy, summarize important retinal, and nonretinal clues that aid in syndromic diagnosis, provide an approach for ophthalmic and systematic systemic examination, describe the important systemic findings seen in pediatric syndromic retinal dystrophies and highlight the role of genetic testing. RECENT FINDINGS: With profound advances being made in the field of molecular genetics, a definitive molecular etiology is increasingly being made even in rare and unusual forms of retinal dystrophies...
June 24, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28649865/dental-stem-cells-recent-progresses-in-tissue-engineering-and-regenerative-medicine
#2
João Botelho, Maria Alzira Cavacas, Vanessa Machado, José João Mendes
Since the disclosure of adult mesenchymal stem cells (MSCs) there have been an intense investigation on the characteristics of these cells and their potentialities. Dental Stem Cells (DSCs) are MSC-like populations with self-renewal capacity and multidifferentiation potential. Currently, there are five main DSCs, dental pulp stem cells (DPSCs), stem cells from exfoliated deciduous teeth (SHED), stem cells from apical papilla (SCAP), periodontal ligament stem cells (PDLSCs), and Dental Follicle Precursor Cells (DFPCs)...
June 24, 2017: Annals of Medicine
https://www.readbyqxmd.com/read/28649424/an-alanine-expanded-pabpn1-causes-increased-utilization-of-intronic-polyadenylation-sites
#3
Tooba Abbassi-Daloii, Soheil Yousefi, Eleonora de Klerk, Laurens Grossouw, Muhammad Riaz, Peter A C 't Hoen, Vered Raz
In eukaryote genomes, the polyadenylation site marks termination of mature RNA transcripts by a poly-adenine tail. The polyadenylation site is recognized by a dynamic protein complex, among which the poly-adenine-binding protein nuclear1 plays a key role. Reduced poly-adenine-binding protein nuclear1 levels are found in aged muscles and are even lower in oculopharyngeal muscular dystrophy patients. Oculopharyngeal muscular dystrophy is a rare, late onset autosomal dominant myopathy, and is caused by an alanine expansion mutation in poly-adenine-binding protein nuclear1...
2017: NPJ Aging and Mechanisms of Disease
https://www.readbyqxmd.com/read/28648683/reliability-and-validity-analyses-of-the-north-star-ambulatory-assessment-in-brazilian-portuguese
#4
Larissa O Okama, Lívia M Zampieri, Carina L Ramos, Flávia O Toledo, Cyntia R J Alves, Ana Cláudia Mattiello-Sverzut, Anna Mayhew, Cláudia F R Sobreira
The North Star Ambulatory Assessment measures motor performance in ambulatory boys with Duchenne muscular dystrophy, a hereditary and degenerative muscle disorder. To use the North Star Ambulatory Assessment in Brazilian boys, we performed the cross-cultural adaptation to the Portuguese language spoken in Brazil and evaluated the reliability and validity of the instrument. Cross-cultural adaptation included: independent translations, synthesis, committee review, pre-testing in 12 boys, back-translation and comparison with the original instrument...
May 26, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28648283/50-years-ago-in-the-journal-of-pediatrics-an-assessment-of-the-creatine-kinase-test-in-the-detection-of-carriers-of-duchenne-muscular-dystrophy
#5
Meeta Wagle Cardon
No abstract text is available yet for this article.
July 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28645460/associations-between-timing-of-corticosteroid-treatment-initiation-and-clinical-outcomes-in-duchenne-muscular-dystrophy
#6
Sunkyung Kim, Yong Zhu, Paul A Romitti, Deborah J Fox, Daniel W Sheehan, Rodolfo Valdez, Dennis Matthews, Brent J Barber
The long-term efficacy of corticosteroid treatment and timing of treatment initiation among Duchenne muscular dystrophy (DMD) patients is not well-understood. We used data from a longitudinal, population-based DMD surveillance program to examine associations between timing of treatment initiation (early childhood [before or at age 5 years], late childhood [after age 5 years], and naïve [not treated]) and five clinical outcomes (age at loss of ambulation; ages at onset of cardiomyopathy, scoliosis, and first fracture; and pulmonary function)...
June 5, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28644393/mutations-in-the-genes-for-interphotoreceptor-matrix-proteoglycans-impg1-and-impg2-in-patients-with-vitelliform-macular-lesions
#7
Caroline Brandl, Heidi L Schulz, Peter Charbel Issa, Johannes Birtel, Richard Bergholz, Clemens Lange, Claudia Dahlke, Ditta Zobor, Bernhard H F Weber, Heidi Stöhr
A significant portion of patients diagnosed with vitelliform macular dystrophy (VMD) do not carry causative mutations in the classic VMD genes BEST1 or PRPH2. We therefore performed a mutational screen in a cohort of 106 BEST1/PRPH2-negative VMD patients in two genes encoding secreted interphotoreceptor matrix proteoglycans-1 and -2 (IMPG1 and IMPG2). We identified two novel mutations in IMPG1 in two simplex VMD cases with disease onset in their early childhood, a heterozygous p.(Leu238Pro) missense mutation and a homozygous c...
June 23, 2017: Genes
https://www.readbyqxmd.com/read/28644009/multi-harmonic-imaging-in-the-second-near-infrared-window-of-nanoparticle-labeled-stem-cells-as-monitoring-tool-in-tissue-depth
#8
Laurence Dubreil, Isabelle Leroux, Mireille Ledevin, Cindy Schleder, Lydie Lagalice, Claire Lovo, Romain Fleurisson, Solène Passemard, Vasyl Kilin, Sandrine Gerber-Lemaire, Marie-Anne Colle, Luigi Bonacina, Karl Rouger
In order to assess the therapeutic potential of cell-based strategies, it is of paramount importance to elaborate and validate tools for monitoring the behavior of injected cells in terms of tissue dissemination and engraftment properties. Here, we apply Bismuth Ferrite harmonic nanoparticles (BFO HNPs) to \textit{in vitro} expanded human skeletal muscle-derived stem cells (hMuStem cells), an attractive therapeutic avenue for patients suffering from Duchenne Muscular Dystrophy (DMD). We demonstrate the possibility of stem cell labeling with HNPs...
June 23, 2017: ACS Nano
https://www.readbyqxmd.com/read/28643790/corrigendum-muscle-specific-crispr-cas9-dystrophin-gene-editing-ameliorates-pathophysiology-in-a-mouse-model-for-duchenne-muscular-dystrophy
#9
Niclas E Bengtsson, John K Hall, Guy L Odom, Michael P Phelps, Colin R Andrus, R David Hawkins, Stephen D Hauschka, Joel R Chamberlain, Jeffrey S Chamberlain
This corrects the article DOI: 10.1038/ncomms14454.
June 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/28643370/developing-a-natural-history-progression-model-for-duchenne-muscular-dystrophy-using-the-six-minute-walk-test
#10
Lora Hamuro, Phyllis Chan, Giridhar Tirucherai, Malaz AbuTarif
The six minute walk test (6MWT) is used as a clinical endpoint to evaluate drug efficacy in Duchenne Muscular Dystrophy (DMD) trials. A model was developed using digitized 6MWT data that estimated two slopes and two intercepts to characterize 6MWT improvement during development and 6MWT decline. Mean baseline 6MWT was 362 (± 87) meters. The model predicted an improvement at a rate of 20 meter/year (9.4-30, 95% confidence interval (CI)) up until 10 years old (6.78-13.1, 95% CI), and then decline at a rate of 85 meter/year (72-98, 95% CI)...
June 23, 2017: CPT: Pharmacometrics & Systems Pharmacology
https://www.readbyqxmd.com/read/28642828/surgical-orthodontic-treatment-of-a-patient-affected-by-type-1-myotonic-dystrophy-steinert-syndrome
#11
Laura Cacucci, Beatrice Ricci, Maria Moretti, Giulio Gasparini, Sandro Pelo, Cristina Grippaudo
Myotonic dystrophy, or Steinert's disease, is the most common form of muscular dystrophy that occurs in adults. This multisystemic form involves the skeletal muscles but affects also the eye, the endocrine system, the central nervous system, and the cardiac system. The weakness of the facial muscles causes a characteristic facial appearance frequently associated with malocclusions. Young people with myotonic dystrophy, who also have severe malocclusions, have bad oral functions such as chewing, breathing, and phonation...
2017: Case Reports in Dentistry
https://www.readbyqxmd.com/read/28642546/slc4a11-depletion-impairs-nrf2-mediated-antioxidant-signaling-and-increases-reactive-oxygen-species-in-human-corneal-endothelial-cells-during-oxidative-stress
#12
Sanjukta Guha, Sunita Chaurasia, Charanya Ramachandran, Sanhita Roy
Corneal endothelial dystrophy is a progressive disease with gradual loss of vision and characterized by degeneration and dysfunction of corneal endothelial cells. Mutations in SLC4A11, a Na(+) dependent OH(-) transporter, cause congenital hereditary endothelial dystrophy (CHED) and Fuchs' endothelial corneal dystrophy (FECD), the two most common forms of endothelial degeneration. Along with genetic factors, oxidative stress plays a role in pathogenesis of several corneal diseases. In this study we looked into the role of SLC4A11 in antioxidant stress response in human corneal endothelial cells (HCEnC)...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28640052/limb-girdle-muscular-dystrophy-what-nurses-need-to-know
#13
Kaitlyn E Sahd, Lisa Ruth-Sahd, Keith G Brazzo
No abstract text is available yet for this article.
July 2017: Nursing
https://www.readbyqxmd.com/read/28639151/central-arterial-function-measured-by-non-invasive-pulse-wave-analysis-is-abnormal-in-patients-with-duchenne-muscular-dystrophy
#14
Thomas D Ryan, John J Parent, Zhiqian Gao, Philip R Khoury, Elizabeth Dupont, Jennifer N Smith, Brenda Wong, Elaine M Urbina, John L Jefferies
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutation of dystrophin. Cardiovascular involvement includes dilated cardiomyopathy. Non-invasive assessment of vascular function has not been evaluated in DMD. We hypothesize arterial wave reflection is abnormal in patients with DMD. Pulse wave analysis was performed on DMD patients with a SphygmoCor SCOR-PVx System to determine central blood pressure and augmentation index (AIx) as an assessment of arterial wave reflection. Results were compared to a control group...
June 21, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28638928/-fat-deposition-in-skeletal-muscle-and-its-regulation
#15
Li-Fang Zheng, Pei-Jie Chen, Yong-Zhan Zhou, Wei-Hua Xiao
Under normal condition, there are a few lipid droplets in skeletal muscle. But in skeletal muscle acute injury, muscular dystrophy, muscle atrophy, obesity, diabetes and other pathological conditions, the fat deposition in skeletal muscle increases, which implicate that the fat deposition may play an important role in the pathogenesis of these diseases. However, the mechanisms of development and regulation of fat deposition in skeletal muscle are not clear. Clarifying the key signaling pathways and regulatory factors that affect fat deposition in skeletal muscle, and exploring new ways to improve the fat deposition in skeletal muscle will not only help to deepen our understanding of the pathogenesis of these diseases, but also provide new ideas for the treatment of these diseases...
June 25, 2017: Sheng Li Xue Bao: [Acta Physiologica Sinica]
https://www.readbyqxmd.com/read/28637766/emery-dreifuss-muscular-dystrophy-linked-genes-and-centronuclear-myopathy-linked-genes-regulate-myonuclear-movement-by-distinct-mechanisms
#16
Mary Ann Collins, Torrey R Mandigo, Jaclyn M Camuglia, Gabriella A Vazquez, Alyssa J Anderson, Christine H Hudson, John L Hanron, Eric S Folker
Muscle cells are a syncytium in which the many nuclei are positioned to maximize the distance between adjacent nuclei. Although mispositioned nuclei are correlated with many muscle disorders, it is not known whether this common phenotype is the result of a common mechanism. To answer this question, the expression of genes linked to Emery-Dreifuss Muscular Dystrophy (EDMD) and Centronuclear myopathy (CNM) was disrupted in Drosophila, and the position of the nuclei was evaluated. We found that the genes linked to EDMD and CNM were each necessary to properly position nuclei...
June 21, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28637492/expression-patterns-of-fshd-causing-dux4-and-myogenic-transcription-factors-pax3-and-pax7-are-spatially-distinct-in-differentiating-human-stem-cell-cultures
#17
Premi Haynes, Kelly Kernan, Suk-Lin Zhou, Daniel G Miller
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is most commonly inherited in an autosomal dominant pattern and caused by the abnormal expression of DUX4 in skeletal muscle. The DUX4 transcription factor has DNA binding domains similar to several paired class homeotic transcription factors, but only myogenic factors PAX3 and PAX7 rescue cell viability when co-expressed with DUX4 in mouse myoblasts. This observation suggests competition for DNA binding sites in satellite cells might limit muscle repair and may be one aspect of DUX4-associated myotoxicity...
June 21, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28637233/identification-of-exosomal-muscle-specific-mirnas-in-serum-of-myotonic-dystrophy-patients-relating-to-muscle-disease-progress
#18
Andrie Koutsoulidou, Marinos Photiades, Tassos C Kyriakides, Kristia Georgiou, Marianna Prokopi, Konstantinos Kapnisis, Anna Lusakowska, Marianna Nearchou, Yiolanda Christou, George K Papadimas, Andreas Anayiotos, Kyriakos Kyriakou, Evangelia Kararizou, Eleni Zamba Papanicolaou, Leonidas A Phylactou
Myotonic dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy, which is characterised by progressive muscle wasting and the discovery of reliable blood-based biomarkers could be useful for the disease progress monitoring. There have been some reports showing that the presence of specific miRNAs in blood correlate with DM1. In one of these, our group identified four muscle-specific miRNAs, miR-1, miR-133a, miR-133b and miR-206, which correlated with the progression of muscle wasting observed in DM1 patients...
June 16, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28636882/foxn1-italian-founder-mutation-in-indian-family-implications-in-prenatal-diagnosis
#19
Akella Radha Rama Devi, Nagesh Narayan Panday, Shaik Mohammad Naushad
The Forkhead box N1 (FOXN1) is a transcriptional factor regulating the development, differentiation and function of thymic epithelial cells; maintaining T-lineage progenitors in bone marrow; promoting terminal differentiation of epithelial cells of hair follicles. Mutation in FOXN1 was reported to cause a rare disorder characterized by rudimentary thymus gland, T-cell immunodeficiency, congenital alopecia and nail dystrophy within an Italian community. This is the first report of FOXN1 p.R255X mutation from India, outside this endogamous Italian community...
June 18, 2017: Gene
https://www.readbyqxmd.com/read/28636407/pulmonary-endpoints-in-duchenne-muscular-dystrophy-a-workshop-summary
#20
Jonathan Finder, Oscar Henry Mayer, Daniel Sheehan, Hemant Sawnani, R Ted Abresch, Joshua Benditt, David J Birnkrant, Tina Duong, Erik Henricson, Kathi Kinnett, Craig M McDonald, Anne M Connolly
Development of novel therapeutics for treatment of Duchenne muscular dystrophy (DMD) has led to clinical trials that include pulmonary endpoints that allow assessment of respiratory muscle status, especially in non-ambulatory subjects. Parent Project Muscular Dystrophy (PPMD) convened a workshop in Bethesda, MD from April 14-15, 2016 to summarize published respiratory data in DMD and give guidance to clinical researchers assessing the effect of interventions on pulmonary outcomes in DMD.
June 21, 2017: American Journal of Respiratory and Critical Care Medicine
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