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https://www.readbyqxmd.com/read/29436205/fat1-gene-alteration-in-facioscapulohumeral-muscular-dystrophy-type-1
#1
Hyung Jun Park, Wookjae Lee, Se Hoon Kim, Jung Hwan Lee, Ha Young Shin, Seung Min Kim, Kee Duk Park, Ji Hyun Lee, Young Chul Choi
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealed that the FAT1 expression is associated with disease activity of FSHD, and the FAT1 alterations result in myopathy with a FSHD-like phenotype. We describe a 59-year-old woman with both contracted D4Z4 repeat units and a FAT1 mutation. Shoulder girdle muscle weakness developed at the age of 56 years, and was followed by proximal leg weakness. When we examined her at 59 years of age, she displayed asymmetric and predominant weakness of facial and proximal muscles...
March 2018: Yonsei Medical Journal
https://www.readbyqxmd.com/read/29415061/a-cre-inducible-dux4-transgenic-mouse-model-for-investigating-facioscapulohumeral-muscular-dystrophy
#2
Takako Jones, Peter L Jones
The Double homeobox 4 (DUX4) gene is an important regulator of early human development and its aberrant expression is causal for facioscapulohumeral muscular dystrophy (FSHD). The DUX4-full length (DUX4-fl) mRNA splice isoform encodes a transcriptional activator; however, DUX4 and its unique DNA binding preferences are specific to old-world primates. Regardless, the somatic cytotoxicity caused by DUX4 expression is conserved when expressed in cells and animals ranging from fly to mouse. Thus, viable animal models based on DUX4-fl expression have been difficult to generate due in large part to overt developmental toxicity of low DUX4-fl expression from leaky transgenes...
2018: PloS One
https://www.readbyqxmd.com/read/29402602/genotype-and-phenotype-analysis-of-43-iranian-facioscapulohumeral-muscular-dystrophy-patients-evidence-for-anticipation
#3
Afagh Alavi, Sara Esmaeili, Shahriar Nafissi, Kimia Kahrizi, Hossein Najmabadi
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary myopathy (prevalence 1/8300-1/20,000). It is typically characterized by progressive weakness of facial, scapular and humeral muscles. Pelvic, abdominal and lower limbs muscles may eventually be affected. FSHD is classified into two subgroups, FSHD1 and FSHD2. FSHD1 is due to a reduction in the copy number of D4Z4 macrosatellites on chromosome 4q35 (11-100 repeats in normal individuals and 1-10 repeats in patients), and FSHD2 is caused by mutations in SMCHD1 or DNMT3B...
January 12, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29395674/specific-muscle-strength-is-reduced-in-facioscapulohumeral-dystrophy-an-mri-based-musculoskeletal-analysis
#4
Marco A Marra, Linda Heskamp, Karlien Mul, Saskia Lassche, Baziel G M van Engelen, Arend Heerschap, Nico Verdonschot
The aim was to test whether strength per unit of muscle area (specific muscle strength) is affected in facioscapulohumeral dystrophy (FSHD) patients, as compared to healthy controls. Ten patients and ten healthy volunteers underwent an MRI examination and maximum voluntary isometric contraction measurements (MVICs) of the quadriceps muscles. Contractile muscle volume, as obtained from the MR images, was combined with the MVICs to calculate the physiological cross-sectional area (PCSA) and muscle strength using a musculoskeletal model...
December 12, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29387734/pre-clinical-safety-and-off-target-studies-to-support-translation-of-aav-mediated-rnai-therapy-for-fshd
#5
Lindsay M Wallace, Nizar Y Saad, Nettie K Pyne, Allison M Fowler, Jocelyn O Eidahl, Jacqueline S Domire, Danielle A Griffin, Adam C Herman, Zarife Sahenk, Louise R Rodino-Klapac, Scott Q Harper
RNAi emerged as a prospective molecular therapy nearly 15 years ago. Since then, two major RNAi platforms have been under development: oligonucleotides and gene therapy. Oligonucleotide-based approaches have seen more advancement, with some promising therapies that may soon reach market. In contrast, vector-based approaches for RNAi therapy have remained largely in the pre-clinical realm, with limited clinical safety and efficacy data to date. We are developing a gene therapy approach to treat the autosomal-dominant disorder facioscapulohumeral muscular dystrophy...
March 16, 2018: Molecular Therapy. Methods & Clinical Development
https://www.readbyqxmd.com/read/29381807/the-facioscapulohumeral-muscular-dystrophy-functional-composite-outcome-measure
#6
Katy Eichinger, Chad Heatwole, Stanley Iyadurai, Wendy King, Lindsay Baker, Susanne Heininger, Amy Bartlett, Nuran Dilek, William B Martens, Michael McDermott, John T Kissel, Rabi Tawil, Jeffrey M Statland
INTRODUCTION: We developed an evaluator-administered functional composite outcome measure (FSHD-COM) comprised of patient-identified areas of functional burden for future clinical trials. METHODS: We performed a prospective observational study of 41 FSHD participants at 2 sites. The FSHD-COM includes functional assessment of the legs, shoulders and arms, trunk, hands, and balance/mobility. We determined the test-retest reliability and convergent validity as compared to established FSHD disease metrics...
January 30, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29329560/overexpression-of-the-double-homeodomain-protein-dux4c-interferes-with-myofibrillogenesis-and-induces-clustering-of-myonuclei
#7
Céline Vanderplanck, Alexandra Tassin, Eugénie Ansseau, Sébastien Charron, Armelle Wauters, Céline Lancelot, Kelly Vancutsem, Dalila Laoudj-Chenivesse, Alexandra Belayew, Frédérique Coppée
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is associated with DNA hypomethylation at the 4q35 D4Z4 repeat array. Both the causal gene DUX4 and its homolog DUX4c are induced. DUX4c is immunodetected in every myonucleus of proliferative cells, while DUX4 is present in only 1/1000 of myonuclei where it initiates a gene deregulation cascade. FSHD primary myoblasts differentiate into either atrophic or disorganized myotubes. DUX4 expression induces atrophic myotubes and associated FSHD markers...
January 12, 2018: Skeletal Muscle
https://www.readbyqxmd.com/read/29281018/smchd1-haploinsufficiency-exacerbates-the-phenotype-of-a-transgenic-fshd1-mouse-model
#8
Jessica C de Greef, Yvonne D Krom, Bianca den Hamer, Lauren Snider, Yosuke Hiramuki, Rob F P van den Akker, Kelsey Breslin, Miha Pakusch, Daniela C F Salvatori, Bram Slütter, Rabi Tawil, Marnie E Blewitt, Stephen J Tapscott, Silvère M van der Maarel
In humans, a copy of the DUX4 retrogene is located in each unit of the D4Z4 macrosatellite repeat that normally comprises 8-100 units. The D4Z4 repeat has heterochromatic features and does not express DUX4 in somatic cells. Individuals with facioscapulohumeral muscular dystrophy (FSHD) have a partial failure of somatic DUX4 repression resulting in the presence of DUX4 protein in sporadic muscle nuclei. Somatic DUX4 derepression is caused by contraction of the D4Z4 repeat to 1-10 units (FSHD1) or by heterozygous mutations in genes responsible for maintaining the D4Z4 chromatin structure in a repressive state (FSHD2)...
December 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29278724/perturbation-of-muscle-metabolism-in-patients-with-muscular-dystrophy-in-early-or-acute-phase-of-disease-in-vitro-high-resolution-nmr-spectroscopy-based-analysis
#9
Niraj Kumar Srivastava, Ramakant Yadav, Somnath Mukherjee, Neeraj Sinha
BACKGROUND: Muscular dystrophy is an inherited muscle disease, characterized by progressive muscle wasting and weakness of variable distribution and severity. METHODS: In vitro, high-resolution proton nuclear magnetic resonance (NMR) spectroscopy based analysis was performed on perchloric acid (PCA) extract of muscle specimens of patients suffering from various types of muscular dystrophies to identify alteration in hydrophilic low-molecular weight substances (aqueous metabolites) as compared to muscle of control subjects as well as in between the types of muscular dystrophy...
December 23, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29236297/mri-change-metrics-of-facioscapulohumeral-muscular-dystrophy-stir-and-t1
#10
Mark R Ferguson, Sandra L Poliachik, Christopher B Budech, Nancy E Gove, Gregory T Carter, Leo H Wang, Daniel G Miller, Dennis W W Shaw, Seth D Friedman
INTRODUCTION: MRI evaluation in facioscapulohumeral muscular dystrophy (FSHD) demonstrates fatty replacement and inflammation/edema in muscle. Our previous work demonstrated Short T1 Inversion Recovery (STIR)-hyperintense (STIR+) signal in muscle 2 years prior to fatty replacement. We evaluated leg muscle STIR changes and fatty replacement within 14 months. METHODS: FSHD subjects received 2 MRI scans of thigh and calf over a 6.9-13.8 month interval. Quality of life measures were collected...
December 13, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29162933/deep-characterization-of-a-common-d4z4-variant-identifies-biallelic-dux4-expression-as-a-modifier-for-disease-penetrance-in-fshd2
#11
Richard Jlf Lemmers, Patrick J van der Vliet, Judit Balog, Jelle J Goeman, Wibowo Arindrarto, Yvonne D Krom, Kirsten R Straasheijm, Rashmie D Debipersad, Gizem Özel, Janet Sowden, Lauren Snider, Karlien Mul, Sabrina Sacconi, Baziel van Engelen, Stephen J Tapscott, Rabi Tawil, Silvère M van der Maarel
Facioscapulohumeral muscular dystrophy is caused by incomplete repression of the transcription factor DUX4 in skeletal muscle as a consequence of D4Z4 macrosatellite repeat contraction in chromosome 4q35 (FSHD1) or variants in genes encoding D4Z4 chromatin repressors (FSHD2). A clinical hallmark of FSHD is variability in onset and progression suggesting the presence of disease modifiers. A well-known cis modifier is the polymorphic DUX4 polyadenylation signal (PAS) that defines FSHD permissive alleles: D4Z4 chromatin relaxation on non-permissive alleles which lack the DUX4-PAS cannot cause disease in the absence of stable DUX4 mRNA...
November 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29129380/evaluation-of-activities-of-daily-living-in-patients-with-slowly-progressive-neuromuscular-diseases
#12
Katarzyna Bienias, Joanna Ścibek, Joanna Cegielska, Jan Kochanowski
Slowly progressive neuromuscular diseases include but are not limited to: facioscapulohumeral muscular dystrophy (FSHD) and limb-girdle muscular dystrophy (LGMD), hereditary motor and sensory neuropathy (HMSN) and spinal muscular atrophy type III (SMA3). The purpose of this study is to present an evaluation of basic and complex activities of daily living in patients suffering from these diseases. The study was conducted on a group of 58 Polish patients: 25 patients with HMSN, 19 with LGMD and FSHD and 14 with SMA3...
October 27, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29112784/clinical-and-genetic-features-of-patients-with-facial-sparing-facioscapulohumeral-muscular-dystrophy
#13
J-J He, X-D Lin, F Lin, G-R Xu, L-Q Xu, W Hu, D-N Wang, H-X Lin, M-T Lin, N Wang, Z-Q Wang
BACKGROUND AND PURPOSE: Facial-sparing scapular myopathy (SHD) is the most common atypical form of facioscapulohumeral muscular dystrophy (FSHD), clinically defined as those without apparent facial muscle weakness on neurologic examination. The clinical profiles and genetic features of SHD are limited. METHODS: A cohort of 21 Chinese patients with SHD were confirmed by PFGE-based molecular genetic analysis. The clinical assessments and methylation analysis were noted...
November 7, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29102079/early-onset-facioscapulohumeral-dystrophy-a-systematic-review-using-individual-patient-data
#14
REVIEW
Rianne J M Goselink, Nicol C Voermans, Kees Okkersen, Oebele F Brouwer, George W Padberg, Ana Nikolic, Rossella Tupler, Malgorzata Dorobek, Jean K Mah, Baziel G M van Engelen, Tim H A Schreuder, Corrie E Erasmus
Infantile or early onset is estimated to occur in around 10% of all facioscapulohumeral dystrophy (FSHD) patients. Although small series of early onset FSHD patients have been reported, comprehensive data on the clinical phenotype is missing. We performed a systematic literature search on the clinical features of early onset FSHD comprising a total of 43 articles with individual data on 227 patients. Additional data from four cohorts was provided by the authors. Mean age at reporting was 18.8 years, and 40% of patients were wheelchair-dependent at that age...
September 21, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29093467/nanopore-based-single-molecule-sequencing-of-the-d4z4-array-responsible-for-facioscapulohumeral-muscular-dystrophy
#15
Satomi Mitsuhashi, So Nakagawa, Mahoko Takahashi Ueda, Tadashi Imanishi, Martin C Frith, Hiroaki Mitsuhashi
Subtelomeric macrosatellite repeats are difficult to sequence using conventional sequencing methods owing to the high similarity among repeat units and high GC content. Sequencing these repetitive regions is challenging, even with recent improvements in sequencing technologies. Among these repeats, a haplotype carrying a particular sequence and shortening of the D4Z4 array on human chromosome 4q35 causes one of the most prevalent forms of muscular dystrophy with autosomal-dominant inheritance, facioscapulohumeral muscular dystrophy (FSHD)...
November 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29067654/cardiac-involvement-in-duchenne-muscular-dystrophy-and-related-dystrophinopathies
#16
Sophie I Mavrogeni, George Markousis-Mavrogenis, Antigoni Papavasiliou, George Papadopoulos, Genovefa Kolovou
Dystrophinopathies include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy (XLCM), and facioscapulohumeral muscular dystrophy (FSHD). DMD/BMD are X-linked recessive disorders, related to the synthesis of dystrophin. Most of DMD after the third decade of their age develop cardiomyopathy that remains silent, due to relative physical inactivity. Cardiac disease in female carriers presents with hypertrophy, arrhythmias or dilated cardiomyopathy, clinically overt by increasing age...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29053898/chronic-pain-has-a-strong-impact-on-quality-of-life-in-facioscapulohumeral-muscular-dystrophy
#17
Germán Morís, Libby Wood, Roberto FernáNdez-Torrón, José Andrés González Coraspe, Chris Turner, David Hilton-Jones, Fiona Norwood, Tracey Willis, Matt Parton, Mark Rogers, Simon Hammans, Mark Roberts, Elizabeth Househam, Maggie Williams, Hanns Lochmüller, Teresinha Evangelista
INTRODUCTION: Earlier small case series and clinical observations reported on chronic pain playing an important role in facioscapulohumeral dystrophy (FSHD). The aim of this study was to determine the characteristics and impact of pain on quality of life (QoL) in patients with FSHD. METHODS: We analyzed patient reported outcome measures collected through the U.K. FSHD Patient Registry. RESULTS: Of 398 patients, 88.6% reported pain at the time of study...
October 20, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29033278/different-profiles-of-upper-limb-function-in-four-types-of-neuromuscular-disorders
#18
Arjen Bergsma, Mariska M H P Janssen, Alexander C H Geurts, Edith H C Cup, Imelda J M de Groot
The aim of this research was to study impairments, activity limitations and participation restrictions due to upper limb involvement in people with four different types of neuromuscular disorders (NMD) - FacioScapuloHumeral Dystrophy (FSHD), Limb-Girdle Muscular Dystrophy (LGMD), Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD) - and to investigate whether common or different profiles could be identified. Total of 267 respondents with NMD from the Netherlands answered a set of questionnaires covering upper limb impairments (pain and stiffness), activity limitations and participation restrictions...
September 15, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29030457/adding-quantitative-muscle-mri-to-the-fshd-clinical-trial-toolbox
#19
Karlien Mul, Sanne C C Vincenten, Nicol C Voermans, Richard J L F Lemmers, Patrick J van der Vliet, Silvère M van der Maarel, George W Padberg, Corinne G C Horlings, Baziel G M van Engelen
OBJECTIVE: To add quantitative muscle MRI to the clinical trial toolbox for facioscapulohumeral muscular dystrophy (FSHD) by correlating it to clinical outcome measures in a large cohort of genetically and clinically well-characterized patients with FSHD comprising the entire clinical spectrum. METHODS: Quantitative MRI scans of leg muscles of 140 patients with FSHD1 and FSHD2 were assessed for fatty infiltration and TIRM hyperintensities and were correlated to multiple clinical outcome measures...
October 13, 2017: Neurology
https://www.readbyqxmd.com/read/28967584/telemedicine-for-facio-scapulo-humeral-muscular-dystrophy-a-multidisciplinary-approach-to-improve-quality-of-life-and-reduce-hospitalization-rate
#20
Simona Portaro, Rocco Salvatore Calabrò, Placido Bramanti, Giuseppe Silvestri, Michele Torrisi, Valeria Conti-Nibali, Santina Caliri, Christian Lunetta, Bernardo Alagna, Antonino Naro, Alessia Bramanti
BACKGROUND: Facio-Scapulo-Humeral Muscular Dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by a variable and asymmetric involvement of facial, trunk, upper and lower extremity muscles. Although respiratory weakness is a relatively unknown feature of FSHD, it is not rare. Telemedicine has been used in a variety of health care fields, but only recently, with the advent of sophisticated technology, its interest among health professionals became evident, even in such diseases...
September 21, 2017: Disability and Health Journal
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