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https://www.readbyqxmd.com/read/28548834/subtly-modulating-glycogen-synthase-kinase-3-%C3%AE-allosteric-inhibitors-development-and-their-potential-for-the-treatment-of-chronic-diseases
#1
Valle Palomo, Daniel I Pérez, Carlos Roca, Cara Anderson, Natalia Rodriguez-Muela, Concepción Pérez, Jose A Morales-Garcia, Julio A Reyes, Nuria E Campillo, Ana M Pérez-Castillo, Lee L Rubin, Lubov T Timchenko, Carmen Gil, Ana Martínez
Glycogen synthase kinase 3 β (GSK-3β) is a central target in several unmet diseases. To increase the specificity of GSK-3β inhibitors in chronic treatments we are developing small molecules allowing subtle modulation of GSK-3β activity. Design synthesis, structure-activity relationships and binding mode of quinoline-3-carbohydrazide derivatives as allosteric modulators of GSK-3β are here presented. Furthermore, we show how allosteric binders may overcome the β-catenin side effects associated to strong GSK-3β inhibition...
May 26, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28542314/toward-a-more-personalized-motor-function-rehabilitation-in-myotonic-dystrophy-type-1-the-role-of-neuroplasticity
#2
Simona Portaro, Antonino Naro, Antonino Chillura, Luana Billeri, Alessia Bramanti, Placido Bramanti, Carmelo Rodolico, Rocco Salvatore Calabrò
Myotonic dystrophy type 1 (DM1) is the most prevalent adult muscular dystrophy, often accompanied by impairments in attention, memory, visuospatial and executive functions. Given that DM1 is a multi-system disorder, it requires a multi-disciplinary approach, including effective rehabilitation programs, focusing on the central nervous system neuroplasticity, in order to develop patient-tailored rehabilitative procedures for motor function recovery. Herein, we performed a transcranial magnetic stimulation (TMS) study aimed at investigating central motor conduction time, sensory-motor plasticity, and cortical excitability in 7 genetically defined DM1 patients...
2017: PloS One
https://www.readbyqxmd.com/read/28540995/cortical-thickness-and-white-matter-integrity-are-associated-with-ctg-expansion-size-in-myotonic-dystrophy-type-i
#3
Woo Kyoung Yoo, Yoon Ghil Park, Young Chul Choi, Sun Mi Kim
PURPOSE: Myotonic dystrophy type 1 (DM1) is characterized by progressive muscular weakness with symptoms caused by involvement of the brain. The aim of this study was to delineate global changes in cortical thickness and white matter integrity in patients with DM1, compared to age-matched healthy controls, and in brain areas highly correlated with CTG repeat size. MATERIALS AND METHODS: Cortical thickness and white matter integrity were compared in nine adult DM1 patients and age matched healthy controls using T1-weighted and diffusion tensor imaging...
July 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28535832/survey-of-canadian-myotonic-dystrophy-patients-access-to-computer-technology
#4
Seth A Climans, Christine Piechowicz, Wilma J Koopman, Shannon L Venance
BACKGROUND: Myotonic dystrophy type 1 is an autosomal dominant condition affecting distal hand strength, energy, and cognition. Increasingly, patients and families are seeking information online. An online neuromuscular patient portal under development can help patients access resources and interact with each other regardless of location. It is unknown how individuals living with myotonic dystrophy interact with technology and whether barriers to access exist. We aimed to characterize technology use among participants with myotonic dystrophy and to determine whether there is interest in a patient portal...
May 24, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28535287/a-flow-cytometry-based-screen-identifies-mbnl1-modulators-that-rescue-splicing-defects-in-myotonic-dystrophy-type-i
#5
Fan Zhang, Nicole E Bodycombe, Keith M Haskell, Yumei L Sun, Eric T Wang, Carl A Morris, Lyn H Jones, Lauren D Wood, Mathew T Pletcher
Myotonic Dystrophy Type 1 (DM1) is a rare genetic disease caused by expansion of CTG trinucleotide repeats ((CTG)exp) in the 3' untranslated region of the DMPK gene. The repeat transcripts sequester the RNA binding protein Muscleblind-like protein 1 (MBNL1) and hamper its normal function in pre-mRNA splicing. Overexpressing exogenous MBNL1 in the DM1 mouse model has been shown to rescue the splicing defects and reverse myotonia. Although a viable therapeutic strategy, pharmacological modulators of MBNL1 expression have not been identified...
May 23, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28527585/a-9-year-follow-up-study-of-the-natural-progression-of-upper-limb-performance-in-myotonic-dystrophy-type-1-a-similar-decline-for-phenotypes-but-not-for-gender
#6
Kateri Raymond, Mélanie Levasseur, Jean Mathieu, Johanne Desrosiers, Cynthia Gagnon
This study aimed to document and compare the decline of upper limb performance among adults with myotonic dystrophy type 1 according to phenotype and gender. A longitudinal descriptive design compared upper limb performance at baseline and follow-up of 70 women and 38 men with the late-onset or adult phenotypes. Grip strength and pinch strength as well as gross dexterity and fine dexterity were assessed. All four performance measures decreased significantly (p <0.001). The decline over time was similar for individuals with the late-onset and adult-onset phenotypes, but differed according to gender...
May 2, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28512194/ancient-antagonism-between-celf-and-rbfox-families-tunes-mrna-splicing-outcomes
#7
Matthew R Gazzara, Michael J Mallory, Renat Roytenberg, John Lindberg, Anupama Jha, Kristen W Lynch, Yoseph Barash
Over 95% of human multi-exon genes undergo alternative splicing, a process important in normal development and often dysregulated in disease. We sought to analyze the global splicing regulatory network of CELF2 in human T cells, a well-studied splicing regulator critical to T cell development and function. By integrating high-throughput sequencing data for binding and splicing quantification with sequence features and probabilistic splicing code models, we find evidence of splicing antagonism between CELF2 and the RBFOX family of splicing factors...
May 16, 2017: Genome Research
https://www.readbyqxmd.com/read/28492931/the-controversial-epidemiology-of-left-ventricular-dysfunction-in-patients-with-myotonic-dystrophy-type-1-reply
#8
Tanyanan Tanawuttiwat, Gordon Tomaselli, Saman Nazarian
No abstract text is available yet for this article.
May 10, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28492909/the-controversial-epidemiology-of-left-ventricular-dysfunction-in-patients-with-myotonic-dystrophy-type-1
#9
Vincenzo Russo, Andrea Antonio Papa, Gerardo Nigro
No abstract text is available yet for this article.
May 10, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28491317/marathoning-with-myotonic-dystrophy-type-2-proximal-myotonic-myopathy-and-leukopenia
#10
Josef Finsterer, Georg Safoschnik, Martina Witsch-Baumgartner
OBJECTIVES: A mild, slowly progressive course of proximal myotonic myopathy, also known as myotonic dystrophy type 2, over years allowing the patient to continue with extreme sport activity, has been only rarely reported. METHODS: Case report. RESULTS: The patient is a 54-year-old female sport teacher who developed myotonia of the distal upper limbs at the age of 32 years. Over the following 22 years, myotonia spreaded to the entire musculature...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28488611/deregulation-of-micrornas-in-blood-and-skeletal-muscles-of-myotonic-dystrophy-type-1-patients
#11
Kathlin K Ambrose, Taufik Ishak, Lay-Hoong Lian, Khean-Jin Goh, Kum-Thong Wong, Azlina Ahmad-Annuar, Meow-Keong Thong
INTRODUCTION: MicroRNAs (miRNAs) are short RNA molecules of approximately 22 nucleotides that function as post-transcriptional regulators of gene expression. They are expressed in a tissue-specific manner and show different expression patterns in development and disease; hence, they can potentially act as disease-specific biomarkers. Several miRNAs have been shown to be deregulated in plasma and skeletal muscles of myotonic dystrophy type 1 (DM1) patients. METHODS: We evaluated the expression patterns of 11 candidate miRNAs using quantitative real-time PCR in whole blood (n = 10) and muscle biopsy samples (n = 9) of DM1 patients, and compared them to those of normal control samples (whole blood, n = 10; muscle, n = 9)...
May 2017: Neurology India
https://www.readbyqxmd.com/read/28485522/effects-of-1-month-withdrawal-of-ventilatory-support-in-hypercapnic-myotonic-dystrophy-type-1
#12
Fergal J O'Donoghue, Jean-Christian Borel, Yves Dauvilliers, Patrick Levy, Renaud Tamisier, Jean-Louis Pépin
BACKGROUND AND OBJECTIVE: The benefits of domiciliary non-invasive ventilation (NIV) in myotonic dystrophy type 1 (DM1) are unclear. We sought to determine the effects of elective discontinuation of ventilatory support for 1 month in DM1 patients receiving NIV for chronic hypercapnic respiratory failure. METHODS: At baseline, 12 patients underwent polysomnography, and assessment of subjective (Epworth Sleepiness Scale) and objective (Oxford Sleep Resistance Test) sleepiness, fatigue (Fatigue Severity Scale), respiratory function including muscle strength, arterial blood gas (ABG), hypercapnic ventilatory response (HCVR), Blood Pressure, peripheral arterial tonometry (PAT) and pulse wave velocity (PWV)...
May 9, 2017: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/28484315/hard-ways-towards-adulthood-the-transition-phase-in-young-people-with-myotonic-dystrophy
#13
REVIEW
Sigrid Baldanzi, Giulia Ricci, Costanza Simoncini, Mirna Cosci O Di Coscio, Gabriele Siciliano
Myotonic dystrophy type 1 (DM1), also called Steinert's disease, is a genetic multisystem disorder that has raised, in the last years, high interest because of the high variable clinical spectrum and related disability. Children with myotonic dystrophy are affected by behavioural problems and intellectual disability, finally impacting on their degree of engagement in family, work and social activities. The transition phase, representing the process of moving from adolescence to adulthood, can be severely affected by growing up with a neuromuscular disorder, with significant impact on patient's and families' quality of life...
December 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28484313/management-of-cardiac-involvement-in-muscular-dystrophies-paediatric-versus-adult-forms
#14
REVIEW
Alberto Palladino, Paola D'Ambrosio, Andrea Antonio Papa, Roberta Petillo, Chiara Orsini, Marianna Scutifero, Gerardo Nigro, Luisa Politano
Muscular dystrophies are a group of genetic disorders characterized by muscle degeneration and consequent substitution by fat and fibrous tissue. Cardiac involvement is an almost constant feature in a great part of these diseases, as both primary myocardial involvement and secondary involvement due to respiratory insufficiency, pulmonary hypertension or reduced mobility. Primary myocardial involvement usually begins more precociously compared to the secondary involvement. In fact the first signs of cardiomyopathy can be observed in the first decade of life in muscular dystrophies with childhood onset and later in adult form of muscular dystrophies as myotonic dystrophy type 1...
December 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28473756/myotonic-dystrophies-state-of-the-art-of-new-therapeutic-developments-for-the-cns
#15
REVIEW
Genevieve Gourdon, Giovanni Meola
Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both myotonic dystrophy type 1 and type 2. In the past two decades, much progress has been made in understanding the mechanisms underlying the DM symptoms allowing development of new molecular therapeutic tools with the ultimate aim of curing the disease. This review describes the state of the art for the characterization of CNS related symptoms, the development of molecular strategies to target the CNS as well as the available tools for screening and testing new possible treatments...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28469747/effects-of-karate-fights-on-achilles-tendon-stiffness-measured-by-myotonometry
#16
Beata Pożarowszczyk, Weronika Pawlaczyk, Małgorzata Smoter, Andrzej Zarzycki, Dariusz Mroczek, Martyna Kumorek, Kazimierz Witkowski, Kawczyński Adam
The aim of the study was to investigate the influence of karate fights on Achilles tendon stiffness in karate competitors. Eleven male karate fighters participated in the present study. A handheld MyotonPRO device (MyotonPRO, Myoton Ltd, Estonia) was applied to measure Achilles tendon stiffness in karate fighters. The Achilles tendon was tested 5 cm above the tuber calcanei. Stiffness measurements were performed before and after eight sparring fights. Each fight lasted 2 min and was separated by a 2 min rest period...
February 2017: Journal of Human Kinetics
https://www.readbyqxmd.com/read/28464087/differences-among-four-meat-goat-breeds-for-doe-fitness-indicator-traits-in-the-southeastern-united-states
#17
L Wang, A Nguluma, M L Leite-Browning, R Browning
Sustainable meat goat production begins with the identification and use of maternal breeds that demonstrate relatively enhanced levels of fitness under less-than-optimal conditions. The Myotonic goat is a heritage breed that is lacking in comparative assessment for female fitness. In this study, Boer ( = 73), Kiko ( = 115), Myotonic ( = 80), and Spanish ( = 114) meat goat does were compared for traits associated with health and reproduction. The herd was semi-intensively managed on humid subtropical pasture for 6 yr...
April 2017: Journal of Animal Science
https://www.readbyqxmd.com/read/28459935/a-cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy-mimics-on-brain-magnetic-resonance-imaging-in-myotonic-dystrophy-type-i
#18
Daniele Konzen, Carolina Fischinger Moura de Souza, Jonas Alex Morales Saute
No abstract text is available yet for this article.
May 1, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28449271/delusional-and-psychotic-disorders-in-juvenile-myotonic-dystrophy-type-1
#19
Delphine Jacobs, Diane Willekens, Christine de Die-Smulders, Jean-Pierre Frijns, Jean Steyaert
We investigated the clinically derived hypothesis of a relatively high incidence of delusional and psychotic disorders in adolescents with juvenile Myotonic Dystrophy type-1 (DM1). Twenty-seven subjects of age 16-25 with juvenile DM1 and their parents were invited to have a clinical psychiatric interview, and to complete an ASEBA behavior checklist (YSR, ASR, CBCL, and ABCL). We diagnosed a Delusional Disorder in 19% of our patients and a Psychotic Disorder not otherwise specified in another 19%. These two groups of patients had a significantly worse level of clinically defined general functioning...
April 27, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28442996/structural-characteristics-of-simple-rna-repeats-associated-with-disease-and-their-deleterious-protein-interactions
#20
REVIEW
Adam Ciesiolka, Magdalena Jazurek, Karolina Drazkowska, Wlodzimierz J Krzyzosiak
Short Tandem Repeats (STRs) are frequent entities in many transcripts, however, in some cases, pathological events occur when a critical repeat length is reached. This phenomenon is observed in various neurological disorders, such as myotonic dystrophy type 1 (DM1), fragile X-associated tremor/ataxia syndrome, C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia (C9ALS/FTD), and polyglutamine diseases, such as Huntington's disease (HD) and spinocerebellar ataxias (SCA). The pathological effects of these repeats are triggered by mutant RNA transcripts and/or encoded mutant proteins, which depend on the localization of the expanded repeats in non-coding or coding regions...
2017: Frontiers in Cellular Neuroscience
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