keyword
MENU ▼
Read by QxMD icon Read
search

Dystrophy

keyword
https://www.readbyqxmd.com/read/28214339/turner-syndrome-and-duchenne-muscular-dystrophy
#1
Sumit Verma, Parul Goyal, Charlotte Beam, Durga Shah
No abstract text is available yet for this article.
February 18, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28214289/bone-health-in-facioscapulohumeral-muscular-dystrophy-a-cross-sectional-study
#2
Hema Chagarlamudi, Alastair Corbett, Marion Stoll, Genila Bibat, Carla Grosmann, Carly Matichak Stock, Nikia Stinson, Jay Shapiro, Kathryn Wagner
INTRODUCTION: We provide a comprehensive overview of bone health in facioscapulohumeral muscular dystrophy (FSHD). METHODS: Ninety-four adult individuals with FSHD1 from two sites were included in this cross-sectional study. Clinical characteristics and determinants of bone health were examined. Relationships between bone mineral density (BMD), strength and function were explored. RESULTS: Nearly a third of subjects were deficient in vitamin D3...
February 18, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28214269/immunohistochemistry-on-a-panel-of-emery-dreifuss-muscular-dystrophy-samples-reveals-nuclear-envelope-proteins-as-inconsistent-markers-for-pathology
#3
Phu Le Thanh, Peter Meinke, Nadia Korfali, Vlastimil Srsen, Michael I Robson, Manfred Wehnert, Benedikt Schoser, Caroline A Sewry, Eric C Schirmer
Reports of aberrant distribution for some nuclear envelope proteins in cells expressing a few Emery-Dreifuss muscular dystrophy mutations raised the possibility that such protein redistribution could underlie pathology and/or be diagnostic. However, this disorder is linked to 8 different genes encoding nuclear envelope proteins, raising the question of whether a particular protein is most relevant. Therefore, myoblast/fibroblast cultures from biopsy and tissue sections from a panel of nine Emery-Dreifuss muscular dystrophy patients (4 male, 5 female) including those carrying emerin and FHL1 (X-linked) and several lamin A (autosomal dominant) mutations were stained for the proteins linked to the disorder...
December 21, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28214267/a-japanese-male-with-a-novel-ano5-mutation-with-minimal-muscle-weakness-and-muscle-pain-till-his-late-fifties
#4
Masato Kadoya, Katsuhisa Ogata, Mikiya Suzuki, Yutaka Honma, Kazunari Momma, Kana Yatabe, Takuhisa Tamura, Kenichi Kaida, Naomasa Miyata, Ichizo Nishino, Ikuya Nonaka, Mitsuru Kawai
Limb girdle muscular dystrophy type 2L (LGMD2L) is an adult-onset slowly progressive muscular dystrophy associated with anoctamin 5 (ANO5) gene mutation, mainly reported from Northern and Central Europe. We report the case of a Japanese male patient with a novel homozygous mutation of c.2394dup, p.Arg799Thrfs in ANO5 gene, the second patient in the Asian population. He had had marked elevation of creatine kinase (CK) level for more than 10 years with minimal muscular symptoms consisting of muscle stiffness and occasional cramps, preceding the onset of proximal limb weakness...
January 18, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28213156/myotonic-dystrophy-disease-repeat-range-penetrance-age-of-onset-and-relationship-between-repeat-size-and-phenotypes
#5
REVIEW
Kevin Yum, Eric T Wang, Auinash Kalsotra
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease primarily characterized by myotonia and progressive muscle weakness. The pathogenesis of DM involves microsatellite expansions in noncoding regions of transcripts that result in toxic RNA gain-of-function. Each successive generation of DM families carries larger repeat expansions, leading to an earlier age of onset with increasing disease severity. At present, diagnosis of DM is challenging and requires special genetic testing to account for somatic mosaicism and meiotic instability...
February 14, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28211918/myotonic-dystrophy-type-1-patient-derived-ipscs-for-the-investigation-of-ctg-repeat-instability
#6
Junko Ueki, Masayuki Nakamori, Masahiro Nakamura, Misato Nishikawa, Yoshinori Yoshida, Azusa Tanaka, Asuka Morizane, Masayoshi Kamon, Toshiyuki Araki, Masanori P Takahashi, Akira Watanabe, Nobuya Inagaki, Hidetoshi Sakurai
Myotonic dystrophy type 1 (DM1) is an autosomal-dominant multi-system disease caused by expanded CTG repeats in dystrophia myotonica protein kinase (DMPK). The expanded CTG repeats are unstable and can increase the length of the gene with age, which worsens the symptoms. In order to establish a human stem cell system suitable for the investigation of repeat instability, DM1 patient-derived iPSCs were generated and differentiated into three cell types commonly affected in DM1, namely cardiomyocytes, neurons and myocytes...
February 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28211878/pre-descemets-endothelial-keratoplasty-the-pdek-clamp-for-successful-pdek
#7
H S Dua, D G Said
PurposeTo design and produce a clamp that enables good handling of donor sclera-corneal disks, allows air to be injected in the corneal stroma and consistently provides pre-Descemets endothelial keratoplasty (PDEK) tissue by creation of a type-1 big bubble (BB) avoiding a type-2BB by shutting the fenestrations in the periphery of the pre-Descemets layer and preventing escape of air.Patients and methodsA clamp with spring loaded handles attached to two rings of 9 mm diameter and 1 mm width with a side port for insertion of a needle for air injection was designed and produced...
February 17, 2017: Eye
https://www.readbyqxmd.com/read/28210825/recovery-of-nail-dystrophy-potential-new-therapeutic-indication-of-tofacitinib
#8
REVIEW
Jose A Jaller, Juan J Jaller, Antonio M Jaller, Juan J Jaller-Char, Sineida Berbert Ferreira, Rachel Ferreira, Morton Scheinberg
Nail dystrophy is a heterogeneous skin condition and in some subtypes, is associated with autoimmune diseases in particular psoriasis and psoriatic arthritis. In this report, we show that tofacitinib, a novel therapy for rheumatoid arthritis, appears to be beneficial in patients with nail disease refractory to other conventional modes of therapy.
February 16, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28210319/physiology-of-respiratory-disturbances-in-muscular-dystrophies
#9
Antonella Lo Mauro, Andrea Aliverti
: Muscular dystrophy is a group of inherited myopathies characterised by progressive skeletal muscle wasting, including of the respiratory muscles. Respiratory failure, i.e. when the respiratory system fails in its gas exchange functions, is a common feature in muscular dystrophy, being the main cause of death, and it is a consequence of lung failure, pump failure or a combination of the two. The former is due to recurrent aspiration, the latter to progressive weakness of respiratory muscles and an increase in the load against which they must contract...
December 2016: Breathe
https://www.readbyqxmd.com/read/28209627/characterization-of-a-blood-spot-creatine-kinase-skeletal-muscle-isoform-immunoassay-for-high-throughput-newborn-screening-of-duchenne-muscular-dystrophy
#10
Stuart J Moat, Teemu Korpimäki, Petra Furu, Harri Hakala, Hanna Polari, Liisa Meriö, Pauliina Mäkinen, Ian Weeks
BACKGROUND: Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder with an average worldwide incidence of 1:5000. Blood spot creatine kinase (CK) enzyme assays previously used in newborn screening programs for DMD are nonspecific because measured CK enzyme activity is attributable to 3 isoenzyme forms of CK (CK-MM, CK-MB, and CK-BB) and it is the CK-MM isoform that is found predominantly in skeletal muscle. CK-MM is increased in boys with DMD owing to muscle damage...
February 16, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28209438/excessive-daytime-sleepiness-in-a-patient-with-coexisting-myotonic-dystrophy-type-1-myasthenia-gravis-and-graves-disease
#11
Katarzyna Kapica-Topczewska, Robert Pogorzelski, Joanna Tarasiuk, Wiesław Drozdowski, Piotr Lewczuk, Alina Kułakowska
A 41-year-old female with history of Graves' disease, bilateral cataract, paroxysmal atrial fibrillation was admitted because of muscle weakness, daytime sleepiness, fatigability, drowsiness, bilateral eyelid ptosis, descending of head and lower jaw. On neurological examination the patient was presented with muscle weakness, muscle atrophy (in face and sternocleidomastoid muscles), features of myotonia and apocamnosis (orbicular muscles). Electromyography revealed myopathic changes, myotonic and pseudomyotonic discharges, positive repetitive nerve stimulation test in proximal muscles...
February 3, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28208626/2-o-methyl-rna-ethylene-bridged-nucleic-acid-chimera-antisense-oligonucleotides-to-induce-dystrophin-exon-45-skipping
#12
REVIEW
Tomoko Lee, Hiroyuki Awano, Mariko Yagi, Masaaki Matsumoto, Nobuaki Watanabe, Ryoya Goda, Makoto Koizumi, Yasuhiro Takeshima, Masafumi Matsuo
Duchenne muscular dystrophy (DMD) is a fatal muscle-wasting disease characterized by dystrophin deficiency from mutations in the dystrophin gene. Antisense oligonucleotide (AO)-mediated exon skipping targets restoration of the dystrophin reading frame to allow production of an internally deleted dystrophin protein with functional benefit for DMD patients who have out-of-frame deletions. After accelerated US approval of eteplirsen (Exondys 51), which targets dystrophin exon 51 for skipping, efforts are now focused on targeting other exons...
February 10, 2017: Genes
https://www.readbyqxmd.com/read/28201546/incidence-and-predictors-of-sudden-death-major-conduction-defects-and-sustained-ventricular-tachyarrhythmias-in-1388-patients-with-myotonic-dystrophy-type-1
#13
Karim Wahbi, Dominique Babuty, Vincent Probst, Ludivine Wissocque, Fabien Labombarda, Raphaël Porcher, Henri Marc Bécane, Arnaud Lazarus, Anthony Béhin, Pascal Laforêt, Tanya Stojkovic, Nicolas Clementy, Aurélie Pattier Dussauge, Jean Baptiste Gourraud, Yann Pereon, Arnaud Lacour, Françoise Chapon, Paul Milliez, Didier Klug, Bruno Eymard, Denis Duboc
No abstract text is available yet for this article.
December 9, 2016: European Heart Journal
https://www.readbyqxmd.com/read/28198786/optical-coherence-tomography-angiography-in-adult-onset-foveomacular-vitelliform-dystrophy
#14
Komal M Joshi, Peter L Nesper, Amani A Fawzi, Rukhsana G Mirza
PURPOSE: To determine the ability of optical coherence tomography angiography (OCTA) to detect choroidal neovascularization (CNV) in the pseudohypopyon stage of adult-onset foveomacular vitelliform dystrophy. METHODS: Prospective case series of eight consecutive patients with adult-onset foveomacular vitelliform dystrophy with at least one eye in the pseudohypopyon stage (a total of 14 eyes). Patients were assessed with spectral domain OCT, flourescein angiography, and OCTA...
February 14, 2017: Retina
https://www.readbyqxmd.com/read/28195981/clinical-features-in-a-case-of-occult-macular-dystrophy-with-rp1l1-mutation
#15
Yun Fu, Kuan-Jen Chen, Chi-Chun Lai, Wei-Chi Wu, Nan-Kai Wang
PURPOSE: To investigate appropriate diagnostic testing for occult macular dystrophy (OMD) in a patient with unexplained progressive visual loss. METHODS: Observational case report. RESULTS: Occult macular dystrophy is an uncommon autosomal dominant macular disease, but sporadic occurrences have been noted. We report a patient with progressive visual decline, but with normal findings in fundus photography, visual field, fluorescein angiography, and full-field standard electroretinography...
February 10, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28195883/long-term-pediatric-ventricular-assist-device-therapy-a-case-report-of-2100-days-of-support
#16
Neha J Purkey, Aileen Lin, Jenna M Murray, Maryalice Gowen, Paul Shuttleworth, Katsuhide Maeda, Christopher S Almond, David N Rosenthal, Sharon Chen
Ventricular assist devices (VADs) have been placed as destination therapy in adults for over twenty years but have only recently been considered an option in a subset of pediatric patients. A 2016 report from the Pediatric Interagency Registry for Mechanical Circulatory Support (PediMACS) revealed only eight pediatric patients implanted as destination therapy. We report the case of an adolescent male with Becker Muscular Dystrophy (BMD) who underwent VAD placement in 2011 as bridge to candidacy. He subsequently decided to remain as destination therapy and so far has accrued over 2100 days on VAD support, the longest duration of pediatric VAD support reported in the literature to date...
February 9, 2017: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://www.readbyqxmd.com/read/28195574/muscle-specific-crispr-cas9-dystrophin-gene-editing-ameliorates-pathophysiology-in-a-mouse-model-for-duchenne-muscular-dystrophy
#17
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
Gene replacement therapies utilizing adeno-associated viral (AAV) vectors hold great promise for treating Duchenne muscular dystrophy (DMD). A related approach uses AAV vectors to edit specific regions of the DMD gene using CRISPR/Cas9. Here we develop multiple approaches for editing the mutation in dystrophic mdx(4cv) mice using single and dual AAV vector delivery of a muscle-specific Cas9 cassette together with single-guide RNA cassettes and, in one approach, a dystrophin homology region to fully correct the mutation...
February 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28194519/electromechanical-delays-during-a-fatiguing-exercise-and-recovery-in-patients-with-myotonic-dystrophy-type-1
#18
Fabio Esposito, Emiliano Cè, Susanna Rampichini, Elena Monti, Eloisa Limonta, Barbara Fossati, Giovanni Meola
PURPOSE: The partitioning of the electromechanical delay by an electromyographic (EMG), mechanomyographic (MMG) and force combined approach can provide further insight into the electrochemical and mechanical processes involved with skeletal muscle contraction and relaxation. The aim of the study was to monitor by this combined approach the changes in delays' electrochemical and mechanical components throughout a fatiguing task and during recovery in patients with myotonic dystrophy type 1 (DM1), who present at the skeletal muscle level fibres rearrangement, muscle weakness and myotonia, especially in the distal muscles...
February 14, 2017: European Journal of Applied Physiology
https://www.readbyqxmd.com/read/28192862/long-term-dietary-quercetin-enrichment-as-a-cardioprotective-countermeasure-in-mdx-mice
#19
Christopher Ballmann, Thomas Denney, Ronald J Beyers, Tiffany Quindry, Matthew Romero, Joshua T Selsby, John C Quindry
Duchenne Muscular Dystrophy (DMD) causes declines in cardiac health resulting in premature mortality. As a potential countermeasure, quercetin is a polyphenol possessing inherent anti-inflammatory and antioxidant effects that activate proliferator-activated γ coactivator 1α (PGC-1α) increasing mitochondrial biogenesis protein abundance. We investigated the extent to which lifelong 0.2% dietary quercetin enrichment attenuates dystrophic cardiopathology in mdx mice. Dystrophic animals were fed quercetin or control diet for 12 months while control C57 mice were fed a control diet...
February 13, 2017: Experimental Physiology
https://www.readbyqxmd.com/read/28191768/multimodal-delivery-of-isogenic-mesenchymal-stem-cells-yields-synergistic-protection-from-retinal-degeneration-and-vision-loss
#20
Benjamin Bakondi, Sergey Girman, Bin Lu, Shaomei Wang
We previously demonstrated that subretinal injection (SRI) of isogenic mesenchymal stem cells (MSCs) reduced the severity of retinal degeneration in Royal College of Surgeons rats in a focal manner. In contrast, intravenous MSC infusion (MSC(IV) ) produced panoptic retinal rescue. By combining these treatments, we now show that MSC(IV) supplementation potentiates the MSC(SRI) -mediated rescue of photoreceptors and visual function. Electrophysiological recording from superior colliculi revealed 3.9-fold lower luminance threshold responses (LTRs) and 22% larger functional rescue area from combined treatment compared with MSC(SRI) alone...
February 2017: Stem Cells Translational Medicine
keyword
keyword
35036
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"