journal
MENU ▼
Read by QxMD icon Read
search

Journal of Neuromuscular Diseases

journal
https://www.readbyqxmd.com/read/30400104/increased-blood-pressure-and-body-mass-index-as-potential-modifiable-factors-in-the-progression-of-myocardial-dysfunction-in-duchenne-muscular-dystrophy
#1
N M van de Velde, A A W Roest, E W van Zwet, E H Niks
BACKGROUND: Duchenne muscular dystrophy (DMD) is characterized by progressive cardiomyopathy. Left ventricular (LV) function may worsen by factors increasing LV afterload such as hypertension and obesity. OBJECTIVE: To identify potential modifiable risk factors for progression of cardiomyopathy in Duchenne muscular dystrophy (DMD). METHODS: We retrospectively analysed systolic blood pressures (SBP) and body-mass indexes (BMI) from 273 visits of 65 DMD patients aged 4-18 years between 2003 and 2016, divided in 14 age groups...
October 29, 2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30372688/homozygous-nonsense-mutation-p-q274x-in-trim63-murf1-in-a-patient-with-mild-skeletal-myopathy-and-cardiac-hypertrophy
#2
Manu Jokela, Peter Baumann, Sanna Huovinen, Sini Penttilä, Bjarne Udd
TRIM63 mutations have been described as a potential cause for cardiac and skeletal myopathy in only one family so far. We describe a new patient carrying the same homozygous TRIM63 nonsense mutation c.739 C>T p.Q247X, that was originally reported in two members of a Spanish family manifesting cardiac hypertrophy. One of these original patients also had an additional heterozygous mutation in TRIM54 and a much more severe phenotype also involving skeletal muscles, and a digenic inheritance was therefore suggested...
October 25, 2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30175982/respiratory-assessment-of-als-patients-a-nationwide-survey-of-current-dutch-practice
#3
T B M Tilanus, J T Groothuis, J M C Ten Broek-Pastoor, J Doorduin, B G M van Engelen, M J Kampelmacher, J Raaphorst
BACKGROUND AND OBJECTIVE: Non-invasive ventilation (NIV) is an established treatment for respiratory failure in patients with amyotrophic lateral sclerosis (ALS). Several studies have shown room for improvement with regard to respiratory care for ALS patients, including latency of referral. These studies focused on the time period starting at the moment of referral to a home ventilation service (HVS) onwards. In the current study we performed a nationwide survey to gain insight in the trajectory before referral...
August 27, 2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30373960/report-on-the-4th-ottawa-international-conference-on-neuromuscular-disease-and-biology-september-5-7-2017-ottawa-canada
#4
Jodi Warman Chardon, Bernard J Jasmin, Rashmi Kothary, Robin J Parks
No abstract text is available yet for this article.
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30372689/respiratory-assessment-of-als-patients-a-nationwide-survey-of-current-dutch-practice
#5
T B M Tilanus, J T Groothuis, J M C Ten Broek-Pastoor, J Doorduin, B G M van Engelen, M J Kampelmacher, J Raaphorst
BACKGROUND AND OBJECTIVE: Non-invasive ventilation (NIV) is an established treatment for respiratory failure in patients with amyotrophic lateral sclerosis (ALS). Several studies have shown room for improvement with regard to respiratory care for ALS patients, including latency of referral. These studies focused on the time period starting at the moment of referral to a home ventilation service (HVS) onwards. In the current study we performed a nationwide survey to gain insight in the trajectory before referral...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30320597/diagnostic-accuracy-of-phenotype-classification-in-duchenne-and-becker-muscular-dystrophy-using-medical-record-data1
#6
Jennifer G Andrews, Molly M Lamb, Kristin Conway, Natalie Street, Christina Westfield, Emma Ciafaloni, Dennis Matthews, Christopher Cunniff, Shree Pandya, Deborah J Fox
Dystrophinopathies are caused by mutations in DMD resulting in progressive muscle weakness. They are historically divided into the more severe Duchenne (DMD) and milder Becker (BMD) muscular dystrophy phenotypes. Classification is important for research and clinical care. The purpose of this study was to describe a multi-variable approach to classifying cases from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) and to assess the accuracy of the diagnostic classification scheme...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30282375/home-based-monitoring-of-pulmonary-function-in-patients-with-duchenne-muscular-dystroph
#7
Gunnar M Buyse, Christian Rummey, Thomas Meier, Mika Leinonen, Thomas Voit, Craig M McDonald, Oscar H Mayer
BACKGROUND: Loss of pulmonary function is a main cause of early morbidity and mortality in patients with Duchenne muscular dystrophy (DMD). Standard of care guidelines recommend regular assessment of pulmonary function by hospital-based spirometry to detect onset and monitor progression of pulmonary function decline. OBJECTIVE: To assess the feasibility of home-based monitoring of pulmonary function by a hand-held device (HHD) in adolescent and adult patients with DMD over a period of 12 months...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30282374/how-to-interpret-abnormal-findings-of-spirometry-and-manometry-in-myotonic-dystrophies
#8
Haris Babačić, Olga Goldina, Kristina Stahl, Federica Montagnese, Vindi Jurinović, Benedikt Schoser, Stephan Wenninger
BACKGROUND/AIM: Pulmonary function tests are used for screening respiratory insufficiency in patients with myotonic dystrophy (DM). We analysed the agreement between two different approaches in assessment of abnormal findings of forced vital capacity (FVC), forced expiratory volume in the first second (FEV1), maximal inspiratory pressure (MIP) and maximal expiratory pressure (MEP), in DM patients. METHODS: We used Cohen's κ- and Bangdiwala's B- statistic to compare the agreement between different cut-off values recommended by experts (ENMC) and the cut-off values based on the reference range (RR)...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30282373/disability-and-contextual-factors-in-patients-with-amyotrophic-lateral-sclerosis-a-three-year-observational-study
#9
Petter Sandstedt, Susanne Littorin, Sverker Johansson, Kristina Gottberg, Charlotte Ytterberg, Marie Kierkegaard
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by muscle weakness and wasting. Observational natural history studies can give information on body function/structure impairments, activity limitations and participation restrictions, i.e. disability. Information needed to plan and develop care and support. OBJECTIVE: To describe and explore disease severity and impairments, activity limitations, participation restrictions and contextual factors over time...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30248061/report-of-the-third-outcome-measures-in-myotonic-dystrophy-type-1-ommyd-3-international-workshop-paris-france-june-8-2015
#10
Cynthia Gagnon, Chad Heatwole, Luc J Hébert, Jean-Yves Hogrel, Luc Laberge, Mario Leone, Giovanni Meola, Louis Richer, Valeria Sansone, Marie Kierkegaard
No abstract text is available yet for this article.
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30248060/myotonic-dystrophy-type-2-data-from-the-serbian-registry
#11
Ivo Bozovic, Stojan Peric, Jovan Pesovic, Bogdan Bjelica, Milos Brkusanin, Ivana Basta, Marija Bozic, Ivan Sencanic, Ana Marjanovic, Marija Brankovic, Dusanka Savic-Pavicevic, Vidosava Rakocevic-Stojanovic
BACKGROUND: Myotonic dystrophy type 2 (DM2) is a multisystem disorder, mostly presented with mild but heterogeneous spectrum of symptoms. OBJECTIVE: The aim of this research was to provide detailed sociodemographic, clinical and laboratory data of a large DM2 cohort from the Serbian registry. METHODS: In 2008, we started to prospectively enter data of all DM patients. We also retrospectively collected data of patients hospitalized from 1990 until 2008...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30223401/motor-function-test-reliability-during-the-neuronext-spinal-muscular-atrophy-infant-biomarker-study
#12
Kristin J Krosschell, Michael Bosch, Leslie Nelson, Tina Duong, Linda P Lowes, Lindsay N Alfano, Danielle Benjamin, Terri B Carry, Ginger Devine, Carolyn Kelley, Rebecca Gadekan, Elizabeth C Malkus, Amy Pasternak, Stephanie Provance-Orr, Lynne Roemeiser-Logan, Alina Nicorici, Donata Trussell, Sally Dunaway Young, Jennifer R Fetterman, Jacqueline Montes, Penny J Powers, Rebecca Quinones, Janet Quigley, Christopher S Coffey, Jon W Yankey, Amy Bartlett, John T Kissel, Stephen J Kolb
BACKGROUND: The NeuroNEXT SMA Infant Biomarker Study, a two year, longitudinal, multi-center study of infants with SMA type 1 and healthy infants, presented a unique opportunity to assess multi-site rater reliability on three infant motor function tests (MFTs) commonly used to assess infants with SMA type 1. OBJECTIVE: To determine the effect of prospective MFT rater training and the effect of rater experience on inter-rater and intra-rater reliability for the Test of Infant Motor Performance Screening Items (TIMPSI), the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and the Alberta Infant Motor Scale (AIMS)...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30198876/-of-mice-and-measures-a-project-to-improve-how-we-advance-duchenne-muscular-dystrophy-therapies-to-the-clinic
#13
Heather Gordish-Dressman, Raffaella Willmann, Laura Dalle Pazze, Arati Kreibich, Maaike van Putten, Ahlke Heydemann, Laurent Bogdanik, Cathleen Lutz, Kay Davies, Alexis R Demonbruen, Dongsheng Duan, David Elsey, So-Ichiro Fukada, Mahasweta Girgenrath, J Patrick Gonzalez, Miranda D Grounds, Andy Nichols, Terry Partridge, Marco Passini, Francesca Sanarica, Frederick J Schnell, Dominic J Wells, Toshifumi Yokota, Courtney S Young, Zhong Zhong, Christopher Spurney, Melissa Spencer, Annamaria De Luca, Kanneboyina Nagaraju, Annemieke Aartsma-Rus
A new line of dystrophic mdx mice on the DBA/2J (D2) background has emerged as a candidate to study the efficacy of therapeutic approaches for Duchenne muscular dystrophy (DMD). These mice harbor genetic polymorphisms that appear to increase the severity of the dystropathology, with disease modifiers that also occur in DMD patients, making them attractive for efficacy studies and drug development. This workshop aimed at collecting and consolidating available data on the pathological features and the natural history of these new D2/mdx mice, for comparison with classic mdx mice and controls, and to identify gaps in information and their potential value...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30175981/low-prevalence-estimates-of-late-onset-glycogen-storage-disease-type-ii-in-french-speaking-belgium-are-not-due-to-missed-diagnoses
#14
Gauthier Remiche, Zoltan Lukacs, David C Kasper, Marc Abramowicz, Massimo Pandolfo
BACKGROUND: Late-onset glycogen storage disease type II is associated with variable muscle phenotypes. Epidemiological data suggest that its prevalence is lower in Belgium than in bordering countries like The Netherlands. OBJECTIVE: We investigated whether such low estimated prevalence is due to missed diagnoses. METHODS: We screened 100 patients with muscle phenotypes of undetermined origin using a dried blood spot test for alpha-acid glucosidase (GAA) activity...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30149461/bone-health-and-endocrine-care-of-boys-with-duchenne-muscular-dystrophy-data-from-the-md-starnet
#15
David R Weber, Shiny Thomas, Stephen W Erickson, Deborah Fox, Joyce Oleszek, Shree Pandya, Yedatore Venkatesh, Christina Westfield, Emma Ciafaloni
BACKGROUND: Patients with Duchenne muscular dystrophy (DMD) are at high risk of endocrine and bone health complications resulting from the high glucocorticoid (GC) doses used to treat this condition. There are limited data characterizing the clinical management of these complications. OBJECTIVE: To determine the frequency of bone health screening, endocrinologist evaluation, and use of endocrine and bone health pharmacotherapy in the clinical care of males with DMD...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30103350/mastication-and-oral-motor-function-in-mcardle-disease-patient-reported-complaints
#16
C V Kouwenberg, N C Voermans, R Quinlivan, L van den Engel-Hoek
BACKGROUND: Exertional myalgia and cramps of the limb and trunk muscles are typical in McArdle disease, but mastication and oral motor limitations have not been systematically investigated before. OBJECTIVE: Determine the reported prevalence and characteristics of limitations on oral motor activities, mastication, swallowing, and other oral motor activities in patients with McArdle disease. METHODS: An observational study was carried out in 28 patients using a standardised questionnaire on mastication and oral motor function...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30103349/mri-guided-biopsy-as-a-tool-for-diagnosis-and-research-of-muscle-disorders
#17
Saskia Lassche, Barbara H Janssen, Ties IJzermans, Jurgen J Fütterer, Nicol C Voermans, Arend Heerschap, Benno Küsters, Ritse M Mann, Baziel Gm van Engelen
BACKGROUND: Sampling error is a common problem in muscle biopsies. MRI-guided biopsy allows verification of biopsy site during the procedure, which may reduce sampling error in patients with focal disease. OBJECTIVES: To describe the technique for MRI-guided muscle biopsy and discuss potential applications. METHODS: Axial MRI images were acquired to determine the target site for muscle biopsy. Needle trajectory was planned on 3D T1 weighted imaging and a MRI-guided biopsy of the vastus lateralis was performed in 13 FSHD patients...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30103348/centronuclear-myopathies-under-attack-a-plethora-of-therapeutic-targets
#18
Hichem Tasfaout, Belinda S Cowling, Jocelyn Laporte
Centronuclear myopathies are a group of congenital myopathies characterized by severe muscle weakness, genetic heterogeneity, and defects in the structural organization of muscle fibers. Their names are derived from the central position of nuclei on biopsies, while they are at the fiber periphery under normal conditions. No specific therapy exists yet for these debilitating diseases. Mutations in the myotubularin phosphoinositides phosphatase, the GTPase dynamin 2, or amphiphysin 2 have been identified to cause respectively X-linked centronuclear myopathies (also called myotubular myopathy) or autosomal dominant and recessive forms...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30040740/a-review-of-psychopathology-features-personality-and-coping-in-myotonic-dystrophy-type-1
#19
REVIEW
Lisa Minier, Baptiste Lignier, Cyrille Bouvet, Benjamin Gallais, Nathalie Camart
BACKGROUND: The last literature review on psychopathological features in Myotonic Dystrophy type 1 had been conducted by Ambrosini and Nurnberg in 1979. Since that date, many researches had been carried out. OBJECTIVE: The aim of this study is (i) to systematically obtain and evaluate the relevant literature on psychopathological features, personality, and coping in individuals with adult phenotypes of Myotonic Dystrophy type 1. (ii) To summarize current research findings and draw conclusions for future research...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/30040739/an-extended-targeted-copy-number-variation-detection-array-including-187-genes-for-the-diagnostics-of-neuromuscular-disorders
#20
Lydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, Bjarne Udd, Carina Wallgren-Pettersson, Katarina Pelin, Kirsi Kiiski
BACKGROUND: Our previous array, the Comparative Genomic Hybridisation design (CGH-array) for nemaline myopathy (NM), named the NM-CGH array, revealed pathogenic copy number variation (CNV) in the genes for nebulin (NEB) and tropomyosin 3 (TPM3), as well as recurrent CNVs in the segmental duplication (SD), i.e. triplicate, region of NEB (TRI, exons 82-89, 90-97, 98-105). In the light of this knowledge, we have designed and validated an extended CGH array, which includes a selection of 187 genes known to cause neuromuscular disorders (NMDs)...
2018: Journal of Neuromuscular Diseases
journal
journal
49998
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"