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Muscular dystrophy

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https://www.readbyqxmd.com/read/28649865/dental-stem-cells-recent-progresses-in-tissue-engineering-and-regenerative-medicine
#1
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
#2
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
#3
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
#4
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
#5
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/28644009/multi-harmonic-imaging-in-the-second-near-infrared-window-of-nanoparticle-labeled-stem-cells-as-monitoring-tool-in-tissue-depth
#6
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
#7
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
#8
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
#9
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/28640052/limb-girdle-muscular-dystrophy-what-nurses-need-to-know
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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/28636407/pulmonary-endpoints-in-duchenne-muscular-dystrophy-a-workshop-summary
#16
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
https://www.readbyqxmd.com/read/28634560/atypical-lipomatous-tumor-well-differentiated-liposarcoma-developed-in-a-patient-with-progressive-muscular-dystrophy-a-case-report-and-review-of-the-literature
#17
Ryo Miyagi, Toshihiko Nishisho, Shinjiro Takata, Yoshimitsu Shimatani, Shunichi Toki, Koichi Sairyo
BACKGROUND: Atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLS) is an intermediate or locally aggressive form of adipocytic soft tissue sarcoma. Muscular dystrophy (MD) is characterized by progressive muscle atrophy and its replacement by adipose and fibrous tissue. Recently, some authors have reported that MD genes are related to neoplastic formation, but there have been no detailed clinical reports of ALT associated with MD. CASE PRESENTATION: A 73-year-old woman with a diagnosis of limb-girdle MD visited our department for recurrence of a huge tumor in her left thigh...
2017: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/28633548/polyquaternium-mediated-delivery-of-morpholino-oligonucleotides-for-exon-skipping-in-vitro-and-in-mdx-mice
#18
Mingxing Wang, Bo Wu, Sapana N Shah, Peijuan Lu, Qilong Lu
Antisense oligonucleotide therapy for Duchenne muscular dystrophy has shown great potential in preclinical and clinical trials, but its therapeutic applications are still limited due to inefficient delivery. In this study, we investigated a few polyquaterniums (PQs) with different size and composition for their potential to improve delivery performance of an antisense phosphorodiamidate morpholino oligomer (PMO) both in vitro and in vivo. The results showed that Luviquat(TM) series, especially PQ-1 and PQ-3, promoted the exon-skipping efficiency comparable to Endoporter-mediated PMO delivery in vitro...
November 2017: Drug Delivery
https://www.readbyqxmd.com/read/28631898/mass-spectrometry-based-protein-analytics-to-unravel-the-tissue-pathophysiology-in-duchenne-muscular-dystrophy
#19
Stephanie J Carr, René P Zahedi, Hanns Lochmüller, Andreas Roos
Duchenne muscular dystrophy (DMD) is a genetic muscle wasting condition with limited treatment options available and is caused by the lack of Dystrophin. However, pathophysiology of different tissues is variable showing different histological and molecular signatures. Recently, a number of studies have employed gel-free proteomic approaches to unveil the molecular pathophysiology in terms of tissue-specific proteome changes in dystrophin-deficiency. We analysed studies in models of dystrophin-deficiency and patients both from the published literature...
June 20, 2017: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/28630131/-it-s-a-hard-conversation-to-have-healthcare-professionals-views-concerning-advance-care-discussions-with-young-people-affected-by-life-limiting-neuromuscular-diseases-an-interview-study
#20
Andy Hiscock, Stephen Barclay
OBJECTIVE: Life-limiting neuromuscular disease, such as some of the muscular dystrophies, are often diagnosed in early childhood: when death comes, commonly in the second or third decade of life, patients rarely have advance care plans in place or documented end-of-life care preferences. There is very limited literature concerning the discussions about end-of-life plans healthcare professionals have with young people affected by life-limiting neuromuscular diseases. The aim of this study was to investigate the views and experiences of healthcare professionals concerning having discussions about advance care plans and end-of-life care with teenagers and young adult patients affected by life-limiting neuromuscular diseases...
June 19, 2017: BMJ Supportive & Palliative Care
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