Database : MEDLINE
Search on : myotonic and dystrophy [Words]
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[PMID]: 29524476
[Au] Autor:Russo V; Papa AA; Rago A; Eng CC; Nigro G
[Ad] Address:Chair of Cardiology, University of the study of Campania "Luigi Vanvitelli", Monaldi Hospital, 80131 Naples - Italy.
[Ti] Title:The effect of dual chamber minimal ventricular pacing on paroxysmal atrial fibrillation incidence in Myotonic Dystrophy type 1 patients: a prospective, randomized, single-blind, crossover study.
[So] Source:Heart Rhythm;, 2018 Mar 07.
[Is] ISSN:1556-3871
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Atrial fibrillation (AF) is a common finding in myotonic dystrophy type 1 (DM1) population. Pacemakers may facilitate the diagnosis and management of frequent subclinical asymptomatic AF episodes. OBJECTIVE: To evaluate the effect of minimal ventricular pacing (MVP) on paroxysmal AF incidence in DM1 patients during a 24-month follow-up period. METHODS: We enrolled 70 DM1 patients (age 43.4 ± 13.8; 39 F) who underwent dual chamber pacemaker implantation. Patients were randomized to minimizing ventricular pacing features (ON) or not (OFF). Patients crossed over to the opposite pacing programming 12 months later. We counted the number of DM1 patients with at least one episode of AF, the AF total duration and burden recorded by PM diagnostics during the MVP ON and OFF phases. RESULTS: 25 DM1 patients (41.7 %) showed at least one AF episode. 7 patients (11.7%) demonstrated AF episodes during MVP ON phase, 25 patients (41.7%) during MVP OFF phase (P<0.001). 35 patients had no AF during MVP ON or OFF phases, 3 patients had AF episodes only during MVP ON phase, 21 patients had AF episodes only during MVP OFF phase, 4 patients had AF episodes during MVP ON and OFF phases. The activation of MVP algorithm was associated with a 44% reduction in relative risk of developing AF. Furthermore, during the MVP ON phases the study population showed a shorter total AF duration and a lower AF burden. CONCLUSIONS: MVP is an efficacy strategy for reducing the risk of AF in DM1 patients who underwent PM implantation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:Publisher

  2 / 6173 MEDLINE  
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[PMID]: 29306591
[Au] Autor:Yoshida K; Aburakawa Y; Suzuki Y; Kuroda K; Kimura T
[Ad] Address:Department of Neurology, Asahikawa Medical Center, National Hospital Organization, Asahikawa, Hokkaido, Japan. Electronic address: yoshidak@asahikawa.hosp.go.jp.
[Ti] Title:The Frequency and Risk Factors for Ischemic Stroke in Myotonic Dystrophy Type 1 Patients.
[So] Source:J Stroke Cerebrovasc Dis;27(4):914-918, 2018 Apr.
[Is] ISSN:1532-8511
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Patients with myotonic dystrophy type 1 have several cardiac abnormalities, especially myocardial conduction disorders. Few studies have investigated cerebral infarction. We investigated the frequency of both symptomatic and asymptomatic ischemic strokes in patients with myotonic dystrophy type 1. METHODS: Patients who were diagnosed with myotonic dystrophy type 1 using genetic testing or clinical examinations at Asahikawa Medical Center were included. We retrospectively reviewed their medical history, neuroradiological imaging, electrocardiograms, and treatment. Their CHADS2 and CHA2DS2-VASc scores were calculated. RESULT: A total of 108 patients were diagnosed with myotonic dystrophy type 1. Magnetic resonance imaging was performed in 72 and 1 patient whose results were not available was excluded. Among these, 2 patients had atrial flutter and 3 had atrial fibrillation. Regarding the CHADS2 score, 11 patients scored more than 2. Regarding the CHA2DS2-VASc score, 22 patients scored more than 2. Ischemic strokes were found in 9 patients with 1 having an atrial flutter and 4 having atrial fibrillation. All patients with stroke had CHADS2 and CHA2DS2-VASc scores higher than 2. There were significant differences between the 2 groups in atrial fibrillation (P < .001), CHADS2 score (P < .001), and CHA2DS2-VASc score (P < .001). CONCLUSIONS: Ischemic stroke in patients with myotonic dystrophy type 1 is associated with atrial fibrillation. The CHADS2 score seems to be useful for the management of patients with myotonic dystrophy type 1. Repeated electrocardiograms are necessary for managing these patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180310
[Lr] Last revision date:180310
[St] Status:In-Process

  3 / 6173 MEDLINE  
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[PMID]: 29420722
[Au] Autor:Fontinha C; Engvall M; Sjögreen L; Kiliaridis S
[Ad] Address:Department of Orthodontics, University of Geneva, Geneva, Switzerl.
[Ti] Title:Craniofacial morphology and growth in young patients with congenital or childhood onset myotonic dystrophy.
[So] Source:Eur J Orthod;, 2018 Feb 06.
[Is] ISSN:1460-2210
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Background/objectives: This study investigated the craniofacial morphology of young individuals with congenital or childhood onset myotonic dystrophy type 1 (DM1) compared to healthy subjects. The study also followed growth changes in their facial morphology over a 5-year period. Materials/methods: Lateral cephalograms of the 26 subjects (young patients with DM1 from west and south Sweden) were taken at baseline and after a 5-year period. These radiographs were compared with normal standards based on healthy individuals from the Michigan Growth Study, according to their age and sex, using paired t-tests (P < 0.05). Results: On examination of initial radiographic measurements, patients with DM1 showed, in the sagittal plane, larger ANB and smaller SNPg angles. Analysis of the vertical plane showed the mandibular plane angle (ML-NSL) and the intermaxillary angle (ML-NL) to be larger. During the 5-year follow-up period, the intermaxillary angle (ML-NL) remained the same in the group with DM1 whereas this angle decreased in healthy individuals. Limitations: For ethical reasons, historical cephalometric norms were used to compare the growth and the craniofacial morphology of patients with DM1. Conclusions/implications: Young patients with DM1 had already from the beginning a more retrognathic profile and hyperdivergent skeletal aberration with a steep mandibular plane and large intermaxillary angle when compared with healthy individuals. The intermaxillary angle did not decrease during the observation period, contrary to what was observed in healthy individuals.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1093/ejo/cjx104

  4 / 6173 MEDLINE  
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[PMID]: 29394960
[Au] Autor:Cheung J; Ruoff C; Moore H; Hagerman KA; Perez J; Sakamuri S; Warby SC; Mignot E; Day J; Sampson J
[Ad] Address:Stanford Center for Sleep Sciences and Medicine, Department of Psychiatry and Behavioral Sciences, Stanford University, Palo Alto, California.
[Ti] Title:Increased EEG Theta Spectral Power in Sleep in Myotonic Dystrophy Type 1.
[So] Source:J Clin Sleep Med;14(2):229-235, 2018 Feb 15.
[Is] ISSN:1550-9397
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:STUDY OBJECTIVES: Myotonic dystrophy type 1 (DM1) is a multisystemic disorder that involves the central nervous system (CNS). Individuals with DM1 commonly present with sleep dysregulation, including excessive daytime sleepiness and sleep-disordered breathing. We aim to characterize electroencephalogram (EEG) power spectra from nocturnal polysomnography (PSG) in patients with DM1 compared to matched controls to better understand the potential CNS sleep dysfunction in DM1. METHODS: A retrospective, case-control (1:2) chart review of patients with DM1 (n = 18) and matched controls (n = 36) referred for clinical PSG at the Stanford Sleep Center was performed. Controls were matched based on age, sex, apnea-hypopnea index (AHI), body mass index (BMI), and Epworth Sleepiness Scale (ESS). Sleep stage and respiratory metrics for the two groups were compared. Power spectral analysis of the EEG C3-M2 signal was performed using the fast Fourier transformation. RESULTS: Patients with DM1 had significantly increased theta percent power in stage N2 sleep compared to matched controls. Theta/beta and theta/alpha percent power spectral ratios were found to be significantly increased in stage N2, N3, all sleep stages combined, and all wake periods combined in patients with DM1 compared to controls. A significantly lower nadir O saturation was also found in patients with DM1 versus controls. CONCLUSIONS: Compared to matched controls, patients with DM1 had increased EEG theta spectral power. Increased theta/beta and theta/alpha power spectral ratios in nocturnal PSG may reflect DM1 pathology in the CNS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.5664/jcsm.6940

  5 / 6173 MEDLINE  
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[PMID]: 29219952
[Au] Autor:Papadopoulos C; Kekou K; Xirou S; Kitsiou-Tzeli S; Kararizou E; Papadimas GK
[Ad] Address:First Department of Neurology, University of Athens, Medical School, Aeginition Hospital, Athens, Greece.
[Ti] Title:Early onset posterior subscapular cataract in a series of myotonic dystrophy type 2 patients.
[So] Source:Eye (Lond);32(3):622-625, 2018 Mar.
[Is] ISSN:1476-5454
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:PurposeEarly onset posterior subscapular cataract (<50 years of age) is a characteristic feature of myotonic dystrophy type 2 (DM2). Nevertheless, despite being operated at a young age, many patients remain undiagnosed for years. The purpose of this study was to assess the prevalence of early onset posterior subscapular cataract as a presenting symptom of the disease in a cohort of patients with DM2.Patients and methodsWe retrospectively reviewed medical records of DM2 patients followed in our institution for the presence of early onset posterior subscapular cataract, of any secondary causes of cataract, of the age of onset of muscle weakness and of final disease diagnosis.ResultsTwenty-eight patients were studied. Nine patients (32.1%) had presented early onset posterior subscapular cataract at a median age of 43 years (IQR=36-46) and seven (25%) reported it was the presenting sign. No patient was referred for neuromuscular evaluation due to the occurrence of early onset cataract. Median delay between cataract onset and referral for neuromuscular evaluation was 10 years (IQR=6.0-19.5) and final DM2 diagnosis was achieved after a median of 16 years (IQR=6.5-19.5).ConclusionThis study shows that early onset posterior subscapular cataract was the first symptom of the disease in 25% of our DM2 patients. Nevertheless, none was suspected of having cataract in the context of DM2, and referral for neuromuscular evaluation was made after a long delay and usually following the appearance of other symptoms. Ophthalmologists can be the first physicians encountering these patients and should have a low threshold for referring them for neuromuscular evaluation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1038/eye.2017.280

  6 / 6173 MEDLINE  
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[PMID]: 29381813
[Au] Autor:Graham CD; Kemp S; Radakovic R; Kapur N
[Ad] Address:Leeds Institute of Health Sciences, University of Leeds, Leeds, LS2 9LJ, UK.
[Ti] Title:Clinical neuropsychology in the management of myotonic dystrophy.
[So] Source:Muscle Nerve;, 2018 Jan 30.
[Is] ISSN:1097-4598
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:EDITORIAL
[Em] Entry month:1801
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:Publisher
[do] DOI:10.1002/mus.26085

  7 / 6173 MEDLINE  
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[PMID]: 29500929
[Au] Autor:Altamura C; Mangiatordi GF; Nicolotti O; Sahbani D; Farinato A; Leonetti F; Carratù MR; Conte D; Desaphy JF; Imbrici P
[Ad] Address:Department of Pharmacy - Drug Sciences, University of Bari "Aldo Moro", via Orabona 4 - Campus, 70125, Bari, Italy.
[Ti] Title:Mapping ligand binding pockets in ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid.
[So] Source:Br J Pharmacol;, 2018 Mar 03.
[Is] ISSN:1476-5381
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND AND PURPOSE: Despite the fact that chloride channels are involved in several physiological processes and acquired diseases, the availability of compounds selectively targeting CLC proteins is rather limited. ClC-1 channels are responsible for sarcolemma repolarization after an action potential in skeletal muscle fibers and have been associated with myotonia congenita and myotonic dystrophy as well as with other muscular physiopathological conditions. To date only a few ClC-1 blockers have been discovered, such as anthracene-9-carboxylic acid (9-AC) and niflumic acid (NFA), whereas no useful activator exists. The absence of a ClC-1 structure and the limited information regarding the binding pockets in CLC channels hamper the identification of improved modulators. EXPERIMENTAL APPROACH: The aim of this study was to provide an in-depth characterization of drug binding pockets in ClC-1 through an integrated in silico and experimental approach. We searched putative cavities in a homology model of ClC-1 built upon an eukaryotic CLC crystal structure, and validated in silico data by measuring the blocking ability of 9-AC and NFA on mutant ClC-1 channels expressed in HEK 293 cells. KEY RESULTS: We identified four putative binding cavities in ClC-1. 9-AC appears to interact with K231, R421 and F484 within the channel pore that are pivotal for ClC-1 block. We also identified one preferential binding cavity for NFA and propose R421 and F484 as critical residues. CONCLUSION AND IMPLICATIONS: This study represents the first effort to delineate, through a computational-functional protocol, the binding sites of ClC-1. This information is fundamental to discover compounds useful in the treatment of ClC-1-associated dysfunctions and might represent a starting point for specifically targeting other CLC proteins.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:Publisher
[do] DOI:10.1111/bph.14192

  8 / 6173 MEDLINE  
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[PMID]: 29490267
[Au] Autor:Wang PY; Chang KT; Lin YM; Kuo TY; Wang GS
[Ad] Address:Program in Molecular Medicine, National Yang-Ming University and Academia Sinica, Taipei, Taiwan; Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
[Ti] Title:Ubiquitination of MBNL1 Is Required for Its Cytoplasmic Localization and Function in Promoting Neurite Outgrowth.
[So] Source:Cell Rep;22(9):2294-2306, 2018 Feb 27.
[Is] ISSN:2211-1247
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The Muscleblind-like protein family (MBNL) plays an important role in regulating the transition between differentiation and pluripotency and in the pathogenesis of myotonic dystrophy type 1 (DM1), a CTG expansion disorder. How different MBNL isoforms contribute to the differentiation and are affected in DM1 has not been investigated. Here, we show that the MBNL1 cytoplasmic, but not nuclear, isoform promotes neurite morphogenesis and reverses the morphological defects caused by expanded CUG RNA. Cytoplasmic MBNL1 is polyubiquitinated by lysine 63 (K63). Reduced cytoplasmic MBNL1 in the DM1 mouse brain is consistent with the reduced extent of K63 ubiquitination. Expanded CUG RNA induced the deubiqutination of cytoplasmic MBNL1, which resulted in nuclear translocation and morphological impairment that could be ameliorated by inhibiting K63-linked polyubiquitin chain degradation. Our results suggest that K63-linked ubiquitination of MBNL1 is required for its cytoplasmic localization and that deubiquitination of cytoplasmic MBNL1 is pathogenic in the DM1 brain.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:In-Data-Review

  9 / 6173 MEDLINE  
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[PMID]: 29488106
[Au] Autor:Russo V; Rago A; Papa AA; Arena G; Politano L; Nigro G
[Ad] Address:Chair of Cardiology, University of Campania "Luigi Vanvitelli", Monaldi Hospital, Naples, Italy.
[Ti] Title:Bachmann bundle pacing reduces atrial electromechanical delay in type 1 myotonic dystrophy patients.
[So] Source:J Interv Card Electrophysiol;, 2018 Feb 27.
[Is] ISSN:1572-8595
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: Atrial electromechanical delay (AEMD) is an echocardiographic parameter correlated with the onset of supraventricular arrhythmias in several clinical conditions. Inter-atrial septal pacing in the region of Bachmann's bundle (BB) has been shown to be safe and feasible in myotonic dystrophy type 1 (DM1) patients, with a low rate of sensing and pacing defects. The aim of this study was to assess the impact of temporary BB pacing compared with right atrial appendage (RAA) pacing on AEMD in DM1 patients undergoing pacemaker (PM) implantation for cardiac rhythm abnormalities. METHODS: The study enrolled 70 consecutive DM1 patients undergoing PM implantation for cardiac rhythm abnormalities in accordance with the current guidelines. Seventy age- and sex-matched non-DM1 patients undergoing dual-chamber PM implantation for cardiac rhythm abnormalities were used as controls. The atrial pacing lead was temporarily positioned in the RAA and on the right side of the inter-atrial septum in the region of Bachmann's bundle. For each site (BB and RAA), temporary atrial pacing in the AAI mode was established at 10 beats per minute above the sinus rate and a detailed trans-thoracic echocardiogram with tissue Doppler (TDI) analysis was recorded after at least 10 min of atrial pacing to evaluate AEMD. RESULTS: Temporary RAA pacing did not show statistically significant differences in inter-AEMD (48.2 ± 17.8 vs 50.5 ± 16.5 ms; P = 0.8), intra-left AEMD (43.3 ± 15.5 vs 44.6 ± 15.8 ms; P = 0.1), or intra-right-AEMD (14.1 ± 4.2 vs 15.4 ± 5.8 ms; P = 0.9), in comparison with sinus rhythm. Temporary BB pacing determined a significantly lower inter-AEMD (36.1 ± 17.1 vs 50.5 ± 16.5 ms; P = 0.001) and intra-left AEMD (32.5 ± 15.2 vs 44.6 ± 15.8 ms; P = 0.001) values in comparison with temporary RAA pacing. No statistically significant difference was found in intra-right AEMD (12.2 ± 4.6 vs 15.4 ± 5.8 ms; P = 0.2). In the control group, neither temporary RAA pacing nor temporary BB pacing showed statistically significant differences in inter-AEMD, intra-left AEMD, or intra-right AEMD values in comparison with sinus rhythm. CONCLUSIONS: In DM1 patients undergoing dual-chamber PM implantation, atrial pacing in the Bachmann bundle region is associated with significantly lower echocardiographic indices of atrial electromechanical delay (inter-AEMD and intra-left AEMD) in comparison with RAA pacing.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:Publisher
[do] DOI:10.1007/s10840-018-0331-5

  10 / 6173 MEDLINE  
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[PMID]: 29260836
[Au] Autor:Kierkegaard M; Petitclerc É; Hébert LJ; Mathieu J; Gagnon C
[Ad] Address:Function Area Occupational therapy and Physiotherapy, Karolinska University Hospital, SE-171 76 Stockholm, Sweden. marie.kierkegaard@karolinska.se, Marie.Kierkegaard@ki.se, marie.kierkegaard@sll.se.
[Ti] Title:Responsiveness of performance-based outcome measures for mobility, balance, muscle strength and manual dexterity in adults with myotonic dystrophy type 1.
[So] Source:J Rehabil Med;50(3):269-277, 2018 Feb 28.
[Is] ISSN:1651-2081
[Cp] Country of publication:Sweden
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To assess changes and responsiveness in outcome measures of mobility, balance, muscle strength and manual dexterity in adults with myotonic dystrophy type 1. DESIGN: A 9-year longitudinal study conducted with 113 patients. METHODS: The responsiveness of the Timed Up and Go test, Berg Balance Scale, quantitative muscle testing, grip and pinch-grip strength, and Purdue Pegboard Test was assessed using criterion and construct approaches. Patient-reported perceived changes (worse/stable) in balance, walking, lower-limb weakness, stair-climbing and hand weakness were used as criteria. Predefined hypotheses about expected area under the receiver operating characteristic curves (criterion approach) and correlations between relative changes (construct approach) were explored. RESULTS: The direction and magnitude of median changes in outcome measures corresponded with patient-reported changes. Median changes in the Timed Up and Go test, grip strength, pinch-grip strength and Purdue Pegboard Test did not, in general, exceed known measurement errors. Most criterion (72%) and construct (70%) approach hypotheses were supported. Promising responsiveness was found for outcome measures of mobility, balance and muscle strength. Grip strength and manual dexterity measures showed poorer responsiveness. CONCLUSION: The performance-based outcome measures captured changes over the 9-year period and responsiveness was promising. Knowledge of measurement errors is needed to interpret the meaning of these longitudinal changes.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:In-Process
[do] DOI:10.2340/16501977-2304


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