Search results for " myotonic dystrophy"

showing 5 items of 5 documents

Noninvasive assessment of respiratory muscle strength and activity in Myotonic dystrophy

2017

Objective To evaluate sensitivity/specificity of the maximum relaxation rate (MRR) of inspiratory muscles, amplitude of electromyographic activity of the sternocleidomastoid (SCM), scalene (SCA), parasternal (2ndIS) and rectus abdominis (RA) muscles; lung function and respiratory muscle strength in subjects with Myotonic dystrophy type 1 (DM1) compared with healthy subjects. Design and methods Quasi-experimental observational study with control group. MRR of inspiratory muscles, lung function and amplitude of the electromyographic activity of SCM, SCA, 2ndIS and RA muscles during maximum inspiratory pressure (PImax), maximum expiratory pressure (PEmax) and sniff nasal inspiratory pressure (…

MaleMuscle PhysiologyTime FactorsMuscle FunctionsPhysiologyMuscle RelaxationRespiratory Systemlcsh:MedicineElectromyographyPulmonary function testing0302 clinical medicineThoracic DiaphragmMedicine and Health SciencesMyotonic DystrophyMedicineRespiratory systemlcsh:ScienceMusculoskeletal SystemAbdominal MusclesMultidisciplinaryAnthropometrymedicine.diagnostic_testMusclesMuscle AnalysisRespiratory MusclesRespiratory Function TestsBioassays and Physiological AnalysisMuscle relaxationInhalationGenetic DiseasesExhalationParasternal lineCardiologyFemaleAnatomyMuscle ElectrophysiologyResearch ArticleAdult; Anthropometry; Electromyography; Exhalation; Female; Humans; Inhalation; Male; Muscle Relaxation; Muscle Strength; Myotonic Dystrophy; Pressure; ROC Curve; Respiratory Function Tests; Respiratory Muscles; Sample Size; Time FactorsAdultmedicine.medical_specialtyRespiratory physiologyResearch and Analysis Methods03 medical and health sciencesInternal medicineRespiratory musclesPressureRespiratory muscleHumansRespiratory PhysiologyMuscle StrengthClinical GeneticsElectromyographic activityElectromyographybusiness.industryElectrophysiological Techniqueslcsh:RBiology and Life SciencesExhalationSkeletal MusclesROC Curve030228 respiratory systemSample Sizelcsh:Qbusiness030217 neurology & neurosurgeryPLOS ONE
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"I Know that You Know that I Know": Neural Substrates Associated with Social Cognition Deficits in DM1 Patients.

2016

Myotonic dystrophy type-1 (DM1) is a genetic multi-systemic disorder involving several organs including the brain. Despite the heterogeneity of this condition, some patients with non-congenital DM1 can present with minimal cognitive impairment on formal testing but with severe difficulties in daily-living activities including social interactions. One explanation for this paradoxical mismatch can be found in patients' dysfunctional social cognition, which can be assessed in the framework of the Theory of Mind (ToM). We hypothesize here that specific disease driven abnormalities in DM1 brains may result in ToM impairments. We recruited 20 DM1 patients who underwent the "Reading the Mind in th…

MaleSocial CognitionMagnetic Resonance SpectroscopyTheory of MindAdult; Brain; Cognition; Female; Humans; Magnetic Resonance Spectroscopy; Male; Middle Aged; Myotonic Dystrophy; Neuropsychological Tests; Social Behavior; Theory of MindSocial Scienceslcsh:MedicineDiseaseNeuropsychological TestsDiagnostic RadiologyCognition0302 clinical medicineFunctional Magnetic Resonance ImagingTheory of mindMedicine and Health SciencesPsychologyMyotonic Dystrophylcsh:ScienceCognitive ImpairmentBrain MappingMultidisciplinarymedicine.diagnostic_testCognitive NeurologyRadiology and Imagingagricultural and biological sciences (all); biochemistry genetics and molecular biology (all); medicine (all)05 social sciencesRBrainCognitionMiddle AgedMagnetic Resonance ImagingNeurologyRC0346Genetic DiseasesPhysical SciencesFemaleSettore MED/26 - NeurologiaPsychologyResearch ArticleClinical psychologyAdultmusculoskeletal diseasesComputer and Information Sciencesmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesSocial PsychologyImaging TechniquesCognitive NeuroscienceNeuroimagingDysfunctional familyResearch and Analysis MethodsMyotonic dystrophy050105 experimental psychology03 medical and health sciencesDiagnostic MedicineSocial cognitionTheory of mind cerebral lesionGeneticsmedicineHumans0501 psychology and cognitive sciencesSocial BehaviorPsychiatryClinical GeneticsSettore M-PSI/02 - Psicobiologia E Psicologia Fisiologicalcsh:RCognitive PsychologyBiology and Life SciencesHuman Geneticsmedicine.diseaseComprehensionGraph TheoryRC0321Cognitive Sciencelcsh:QFunctional magnetic resonance imagingMathematics030217 neurology & neurosurgeryNeurosciencePLoS ONE
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Laparoscopic cholecystectomy in a patient with Steinert myotonic dystrophy. Case report.

2011

Myotonic dystrophy (MD) is a serious multi-systemic autosomal dominant disease. The estimated incidence is 1 in every 8000 births, with an estimated prevalence of between 2.1 and 14.3 cases per 100,000 inhabitants. Signs and symptoms vary from a severe form of congenital myopathy, present from birth and often fatal, to a classic form and a delayed form, which generally presents after the age of 50 and in which the only sign is a cataract and life expectancy is completely normal. We describe the clinical case of a 40-year-old woman with Steinert myotonic dystrophy who underwent laparoscopic cholecystectomy (under general anesthesia) for symptomatic gallbladder stones. The conduct of anesthes…

Laparoscopic cholecystectomySettore MED/18 - Chirurgia GeneraleSteinert myotonic dystrophy
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Musashi-2 contributes to myotonic dystrophy muscle dysfunction by promoting excessive autophagy through miR-7 biogenesis repression

2021

Skeletal muscle symptoms strongly contribute to mortality of myotonic dystrophy type 1 (DM1) patients. DM1 is a neuromuscular genetic disease caused by CTG repeat expansions that, upon transcription, sequester the Muscleblind-like family of proteins and dysregulate alternative splicing of hundreds of genes. However, mis-splicing does not satisfactorily explain muscle atrophy and wasting, and several other contributing factors have been suggested, including hyperactivated autophagy leading to excessive catabolism. MicroRNA ( miR ) -7 has been demonstrated to be necessary and sufficient to repress the autophagy pathway in cell models of the disease, but the origin of its low levels in DM1 was…

autophagyMSI2 antisense oligonucleotides autophagy miR-7 muscle atrophy muscle dysfunction myotonic dystrophy myotubesRM1-950BiologyMyotonic dystrophyMSI2chemistry.chemical_compoundDrug DiscoverymedicineMyocyteGene silencingMBNL1muscle dysfunctionmyotonic dystrophyMyogenesisAutophagymiR-7Skeletal musclemedicine.diseaseMuscle atrophyCell biologymedicine.anatomical_structurechemistryMolecular MedicineTherapeutics. Pharmacologyantisense oligonucleotidesmedicine.symptomMolecular Therapy - Nucleic Acids
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Preclinical characterization of antagomiR-218 as a potential treatment for myotonic dystrophy

2021

Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease caused by expansion of unstable CTG repeats in a non-coding region of the DMPK gene. CUG expansions in mutant DMPK transcripts sequester MBNL1 proteins in ribonuclear foci. Depletion of this protein is a primary contributor to disease symptoms such as muscle weakness and atrophy and myotonia, yet upregulation of endogenous MBNL1 levels may compensate for this sequestration. Having previously demonstrated that antisense oligonucleotides against miR-218 boost MBNL1 expression and rescue phenotypes in disease models, here we provide preclinical characterization of an antagomiR-218 molecule using the HSALR mouse model and patient-d…

antisense oligonucleotidetissue distributionRM1-950BiologyMyotonic dystrophyTranscriptomechemistry.chemical_compoundalternative splicingtranscriptomicsAtrophyDrug DiscoverymicroRNAmedicineMBNL1AntagomirCTG repeat expansionstherapeutic gene modulationCTG repeat expansions MBNL1 protein alternative splicing antisense oligonucleotide microRNAs myotonic dystrophy therapeutic gene modulation tissue distribution transcriptomicsmyotonic dystrophyMyogenesisMyotoniamedicine.diseasemicroRNAschemistryCancer researchMolecular MedicineOriginal ArticleTherapeutics. PharmacologyMBNL1 protein
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