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Karen Schipper, Minne Bakker, Tineke Abma
PURPOSE: The aim of this article is to describe how fatigue affects the lives of people with facioscapulohumeral dystrophy (FSHD), how they experience fatigue, and how they deal with it in order to attune rehabilitation care to patients' needs. METHOD: A qualitative study, consisting of 25 semistructured interviews with patients with FSHD and severe fatigue (as measured with the checklist individual strength (CIS) fatigue questionnaire), was conducted to gain insight into the experiences of patients with fatigue...
October 20, 2016: Disability and Rehabilitation
Mark R Ferguson, Sandra L Poliachik, Michele L Shaffer, Seth D Friedman, Nicoline Voet, Barbara Janssen, Alexander Geurts, Baziel van Engelen, Arend Heerschap
No abstract text is available yet for this article.
October 18, 2016: Neurology
Paul Knopp, Yvonne D Krom, Christopher R S Banerji, Maryna Panamarova, Louise A Moyle, Bianca den Hamer, Silvère M van der Maarel, Peter S Zammit
Skeletal muscle wasting in facioscapulohumeral muscular dystrophy (FSHD) results in substantial morbidity. On a disease-permissive chromosome 4qA haplotype, genomic and/or epigenetic changes at the D4Z4 macrosatellite repeat allows transcription of the DUX4 retrogene. Analysing transgenic mice carrying a human D4Z4 genomic locus from an FSHD-affected individual showed that DUX4 was transiently induced in myoblasts during skeletal muscle regeneration. Centromeric to the D4Z4 repeats is an inverted D4Z4 unit encoding DUX4c...
October 15, 2016: Journal of Cell Science
Bryan P Fitzgerald, Kelly M Conn, Joanne Smith, Andrew Walker, Amy L Parkhill, James E Hilbert, Elizabeth A Luebbe, Richard T Moxley Iii
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations. Higher levels of medication adherence lead to better health outcomes, especially important to patients with DM and FSHD because of their multisystem manifestations and complexity of care. However, medication adherence has not previously been studied in a large cohort of DM type 1 (DM1), DM type 2 (DM2), and FSHD patients. The purpose of our study was to survey medication adherence and disease manifestations in patients enrolled in the NIH-supported National DM and FSHD Registry...
October 12, 2016: Journal of Neurology
Vishakha Sharma, Sachchida Nand Pandey, Hunain Khawaja, Kristy J Brown, Yetrib Hathout, Yi-Wen Chen
OBJECTIVE: The goal of the study is to identity proteins, which interact with the promoter region of double homeobox protein 4 (DUX4) gene known to be causative for the autosomal dominant disorder Facioscapulohumeral Muscular Dystrophy (FSHD). METHODS: We performed a DNA pull down assay coupled with mass spectrometry analysis to identify proteins that interact with a DUX4 promoter probe in Rhabdomyosarcomca (RD) cells. We selected the top ranked protein poly (ADP-ribose) polymerase 1 (PARP1) from our mass spectrometry data for further ChIP-qPCR validation using patients' myoblasts...
August 2016: Journal of Genetic Syndrome & Gene Therapy
Federica Trucco, Marina Pedemonte, Chiara Fiorillo, Paola Tacchetti, Giacomo Brisca, Claudio Bruno, Carlo Minetti
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant inherited disorder characterized by selective weakness of face and upper arms and girdle. Respiratory involvement in FSHD has been described mainly in the most severely affected patients. In this work we tested the respiratory function by spirometry in 12 patients affected by FSHD with onset before 18 years. Spirometry results were correlated with motor involvement and compared to aged matched group of Becker patients. Of note FSHD patients present a peculiar pattern characterized by a flat shape in flow-volume loop...
October 2016: Respiratory Medicine
Capucine de Lattre, Pascal Rippert, Dalil Hmaroun, Sabrina Sacconi, Isabelle Poirot, Carole Vuillerot
OBJECTIVE: To assess the applicability and the responsiveness of the motor function measure 1 (MFM) in a facio scapulo humeral dystrophy (FSHD) population. MATERIALS/PATIENTS AND METHODS: It is an observational, retrospective and multicenter, cohort study. MFM data came from the MFM database (see Only FSHD patients with at least one MFM-32 were included. The distributions of the MFM scores (total score and MFM D1, D2 and D3 subscores) were analyzed by age...
September 2016: Annals of Physical and Rehabilitation Medicine
Nadine Pellegrini
OBJECTIVE: To study seated postural control in neuromuscular disorder. MATERIALS/PATIENTS AND METHODS: We conducted a retrospective observational cohort study of 130 neuromuscular adult patients having a positioning wheelchair consultation in Foundation of Garches. The assessment is done with the seated postural control measure for adults. RESULTS: Most of the patients had severe intensity illness, only10% were walking and 29% were with tracheostomial ventilation...
September 2016: Annals of Physical and Rehabilitation Medicine
Bo Bao, Rika Maruyama, Toshifumi Yokota
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited autosomal dominant disorder characterized clinically by progressive muscle degeneration. Currently, no curative treatment for this disorder exists. FSHD patients are managed through physiotherapy to improve function and quality of life. Over the last two decades, FSHD has been better understood as a disease genetically characterized by a pathogenic contraction of a subset of macrosatellite repeats on chromosome 4. Specifically, several studies support an FSHD pathogenesis model involving the aberrant expression of the double homeobox protein 4 (DUX4) gene...
August 2016: Intractable & Rare Diseases Research
F Fatehi, E Salort-Campana, A Le Troter, D Bendahan, S Attarian
Facioscapulohumeral muscular dystrophy (FSHD), an inherited and progressive muscle disorder, is among the most common hereditary muscle disorders. From a clinical vantage point, FSHD is characterized by weakness of the facial, shoulder (often with scapular winging), arm (including biceps and triceps) and abdominal muscles. Forearm muscles are usually spared and weakness is usually asymmetrical. Over the past few decades, muscle magnetic resonance imaging (MRI) has become established as a reliable and accurate noninvasive tool for the diagnosis and assessment of progression in neuromuscular diseases, showing specific patterns of muscle involvement for a number of myopathies...
October 2016: Revue Neurologique
Marie-Cécile Gaillard, Francesca Puppo, Stéphane Roche, Camille Dion, Emmanuelle Salort Campana, Virginie Mariot, Charlene Chaix, Catherine Vovan, Killian Mazaleyrat, Armand Tasmadjian, Rafaelle Bernard, Julie Dumonceaux, Shahram Attarian, Nicolas Lévy, Karine Nguyen, Frédérique Magdinier, Marc Bartoli
BACKGROUND: The main form of Facio-Scapulo-Humeral muscular Dystrophy is linked to copy number reduction of the 4q D4Z4 macrosatellite (FSHD1). In 5 % of cases, FSHD phenotype appears in the absence of D4Z4 reduction (FSHD2). In 70-80 % of these patients, variants of the SMCHD1 gene segregate with 4qA haplotypes and D4Z4 hypomethylation. CASE PRESENTATION: We report a family presenting with neuromuscular symptoms reminiscent of FSHD but without D4Z4 copy reduction...
2016: BMC Medical Genetics
Jocelyn O Eidahl, Carlee R Giesige, Jacqueline S Domire, Lindsay M Wallace, Allison M Fowler, Susan M Guckes, Sara E Garwick-Coppens, Paul Labhart, Scott Q Harper
D4Z4 repeats are present in at least 11 different mammalian species, including humans and mice. Each repeat contains an open reading frame encoding a double homeodomain (DUX) family transcription factor. Aberrant expression of the D4Z4 ORF called DUX4 is associated with the pathogenesis of Facioscapulohumeral muscular dystrophy (FSHD). DUX4 is toxic to numerous cell types of different species, and over-expression caused dysmorphism and developmental arrest in frogs and zebrafish, embryonic lethality in transgenic mice, and lesions in mouse muscle...
September 11, 2016: Human Molecular Genetics
Rianne J M Goselink, Tim H A Schreuder, Karlien Mul, Nicol C Voermans, Maaike Pelsma, Imelda J M de Groot, Nens van Alfen, Bas Franck, Thomas Theelen, Richard J Lemmers, Jean K Mah, Silvère M van der Maarel, Baziel G van Engelen, Corrie E Erasmus
BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD; OMIM 158900 & 158901) is a progressive skeletal muscle dystrophy, characterized by an autosomal dominant inheritance pattern. One of the major unsolved questions in FSHD is the marked clinical heterogeneity, ranging from asymptomatic individuals to severely affected patients with an early onset. An estimated 10% of FSHD patients have an early onset (onset before 10 years of age) and are traditionally classified as infantile FSHD...
2016: BMC Neurology
Sujatha Jagannathan, Sean Shadle, Rebecca Resnick, Lauren Snider, Rabi N Tawil, Silvère M van der Maarel, Robert K Bradley, Stephen J Tapscott
Facioscapulohumeral dystrophy (FSHD) is caused by the mis-expression of the double-homeodomain transcription factor DUX4 in skeletal muscle cells. Many different cell culture models have been developed to study the pathophysiology of FSHD, frequently based on endogenous expression of DUX4 in FSHD cells or by mis-expression of DUX4 in control human muscle cells. Although results generated using each model are generally consistent, differences have also been reported, making it unclear which model(s) faithfully recapitulate DUX4 and FSHD biology...
August 15, 2016: Human Molecular Genetics
Petr Dmitriev, Yara Bou Saada, Carla Dib, Eugénie Ansseau, Ana Barat, Aline Hamade, Philippe Dessen, Thomas Robert, Vladimir Lazar, Ruy A N Louzada, Corinne Dupuy, Vlada Zakharova, Gilles Carnac, Marc Lipinski, Yegor S Vassetzky
Facioscapulohumeral dystrophy (FSHD) is one of the three most common muscular dystrophies in the Western world, however, its etiology remains only partially understood. Here, we provide evidence of constitutive DNA damage in in vitro cultured myoblasts isolated from FSHD patients and demonstrate oxidative DNA damage implication in the differentiation of these cells into phenotypically-aberrant myotubes. Double homeobox 4 (DUX4), the major actor in FSHD pathology induced DNA damage accumulation when overexpressed in normal human myoblasts, and RNAi-mediated DUX4 inhibition reduced the level of DNA damage in FSHD myoblasts...
August 9, 2016: Free Radical Biology & Medicine
Landry-Cyrille Bankolé, Guillaume Y Millet, John Temesi, Damien Bachasson, Marion Ravelojaona, Bernard Wuyam, Samuel Verges, Elodie Ponsot, Jean-Christophe Antoine, Fawzi Kadi, Léonard Féasson
BACKGROUND: Previous randomized controlled trials investigating exercise training programs in facioscapulohumeral muscular dystrophy (FSHD) patients are scarce and of short duration only. This study assessed the safety and efficacy of a 6-month home-based exercise training program on fitness, muscle, and motor function in FSHD patients. METHODS: Sixteen FSHD patients were randomly assigned to training (TG) and control (CG) groups (both n = 8) in a home-based exercise intervention...
August 2016: Medicine (Baltimore)
Emese Lovadi, Márta Csereklyei, Hajnalka Merkli, Krisztina Fülöp, Ágnes Sebők, Veronika Karcagi, Sámuel Komoly, Endre Pál
INTRODUCTION: Human fibroblast growth factor 21 (FGF21) is a regulator of lipid and glucose metabolism. It is expressed in skeletal muscle, and may be a sensitive and specific marker for mitochondrial diseases and other neuromuscular disorders. METHODS: Serum FGF21 levels were determined in 71 human samples. Thirty patients with mitochondrial disease, 16 patients with myotonic dystrophy type 1 (DM1), 5 patients with facioscapulohumeral dystrophy (FSHD), and 20 healthy controls were enrolled...
August 4, 2016: Muscle & Nerve
Sunny Das, Brian P Chadwick
We looked at a disease-associated macrosatellite array D4Z4 and focused on epigenetic factors influencing its chromatin state outside of the disease-context. We used the HCT116 cell line that contains the non-canonical polyadenylation (poly-A) signal required to stabilize somatic transcripts of the human double homeobox gene DUX4, encoded from D4Z4. In HCT116, D4Z4 is packaged into constitutive heterochromatin, characterized by DNA methylation and histone H3 tri-methylation at lysine 9 (H3K9me3), resulting in low basal levels of D4Z4-derived transcripts...
2016: PloS One
Aziz Shaibani
About 15% of myopathies present with distal weakness. Lack of sensory deficit, and preservation of sensory responses and deep tendon reflexes, favors a myopathic cause for distal weakness. Electromyogram confirms this diagnosis. Profuse spontaneous discharges are common in inflammatory, metabolic, and myofibrillar myopathy (MFM). If the clinical picture indicates a specific disease such as facioscapulohumeral muscular dystrophy (FSHD), genetic testing provides the quickest diagnosis. Otherwise, muscle biopsy can distinguish specific features...
August 2016: Neurologic Clinics
Katy Eichinger, Chad Heatwole, Susanne Heininger, Nikia Stinson, Carly Matichak Stock, Carla Grosmann, Kathryn R Wagner, Rabi Tawil, Jeffrey M Statland
INTRODUCTION: In preparation for future clinical trials, we determined the reliability, relationship to measures of disease severity, and consistency across sites of the 6 minute walk test (6MWT) in patients with facioscapulohumeral muscular dystrophy (FSHD). METHODS: Genetically defined and clinically affected FSHD participants at 2 sites performed the 6MWT, the Timed Up and Go, and the 30 foot Go/Timed 10 meter test as measures of mobility using standard procedures...
July 16, 2016: Muscle & Nerve
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