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4.
Muscle Nerve ; 63(3): E21-E24, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33314145

Assuntos
/efeitos adversos , Melanoma/tratamento farmacológico , Doenças Musculares/induzido quimicamente , Miosite/induzido quimicamente , Miotonia Congênita/complicações , Distrofia Miotônica/complicações , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Neoplasias Cutâneas/tratamento farmacológico , Idoso , Anticorpos Monoclonais Humanizados/efeitos adversos , Cardiomiopatia Dilatada , Canais de Cloreto/genética , Conectina/genética , Transtornos de Deglutição/induzido quimicamente , Transtornos de Deglutição/complicações , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/fisiopatologia , Eletrodiagnóstico , Eletromiografia , Humanos , Ipilimumab/efeitos adversos , Imagem por Ressonância Magnética , Masculino , Melanoma/secundário , Doenças Musculares/complicações , Doenças Musculares/genética , Doenças Musculares/fisiopatologia , Miosite/complicações , Miosite/diagnóstico , Miosite/fisiopatologia , Miotonia Congênita/diagnóstico , Miotonia Congênita/genética , Miotonia Congênita/fisiopatologia , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/fisiopatologia , Condução Nervosa , Nivolumabe/efeitos adversos , Parestesia/induzido quimicamente , Parestesia/complicações , Parestesia/fisiopatologia , Doenças do Sistema Nervoso Periférico/complicações , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/fisiopatologia , Proteínas de Ligação a RNA/genética , Neoplasias Cutâneas/patologia , Neoplasias da Coluna Vertebral/tratamento farmacológico , Neoplasias da Coluna Vertebral/secundário
5.
Rev Med Liege ; 75(12): 761-762, 2020 Dec.
Artigo em Francês | MEDLINE | ID: mdl-33331696

RESUMO

Severe hydrocephalus in a child with congenital myotonic dystrophy X A young patient with congenital myotonic dystrophy, or Steinert's disease, presented at the age of 4.5 months with an increase of his head circumference and signs of intracranial hypertension. The results of the radiological exams reveal a major hydrocephalus. The patient condition evolved favourably after ventriculoperitoneal bypass. While ventriculomegaly is common in congenital myotonic dystrophy, hydrocephalus with signs of intracranial hypertension is rare, hence the need of regular monitoring of head circumference.


Assuntos
Hidrocefalia , Hipertensão Intracraniana , Distrofia Miotônica , Criança , Família , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/etiologia , Distrofia Miotônica/complicações
8.
Rev. neurol. (Ed. impr.) ; 70(11): 406-412, 1 jun., 2020. tab
Artigo em Espanhol | IBECS | ID: ibc-191900

RESUMO

INTRODUCCIÓN: La distrofia miotónica tipo 1 (DM1), o enfermedad de Steinert, es un trastorno multisistémico de herencia autosómica dominante, cuya variante adulta suele cursar con deterioro cognitivo multidominio y afectación de la funcionalidad y la calidad de vida de los pacientes. OBJETIVO: Estudiar la evolución a cuatro años del funcionamiento cognitivo de una muestra de pacientes con la variante adulta de DM1. PACIENTES Y MÉTODOS: Se evalúan las funciones cognitivas de una muestra de 31 pacientes con DM1, de los cuales 24 repiten la evaluación administrada hace cuatro años en el Servicio de Neurología del Complejo Hospitalario de Navarra. Se recogen datos de los dominios neurocognitivos más relacionados con los déficits de presentación habitual en la DM1. RESULTADOS: La evaluación de seguimiento constató la afectación de las funciones visuoespaciales y visuoconstructivas y de la atención alternante de los pacientes que se sometieron al estudio, así como de su funcionamiento cotidiano informado por la familia. Estos resultados están en línea con los obtenidos cuatro años atrás, sin que se haya objetivado un deterioro significativo entre ambas mediciones. Se demuestra, además, una mayor incidencia de deterioro cognitivo en 2018, con algunos casos de evolución a demencia en la enfermedad de Steinert. CONCLUSIÓN: La evolución neuropsicológica en la DM1 parece responder a un patrón progresivo, ligado a las funciones que más se afectan desde los inicios de la fase de secuelas y que suelen corresponder a los dominios de memoria de trabajo, atención alternante y habilidades visuoespaciales y visuoconstructivas


INTRODUCTION. Myotonic dystrophy type 1 (MD1), or Steinert's disease, is a multisystemic disorder of autosomal dominant inheritance, whose adult variant usually presents with multidomain cognitive impairment and affects patients' functionality and quality of life. AIM. To study the four-year history of cognitive functioning in a sample of patients with the adult variant of MD1. PATIENTS AND METHODS. The neurocognitive functions of a sample of 31 patients with MD1 are evaluated, of whom 24 repeat the test administered four years ago in the Neurology Service of the Complejo Hospitalario of Navarra. Data are collected from the cognitive domains that are most related to the deficits that usually present in MD1. RESULTS. The follow-up evaluation found that the visuospatial and visuoconstructive functions and alternating attention of the patients who underwent the study were affected, as was their daily functioning reported by the family. These results are in line with those obtained four years earlier, with no significant deterioration observed between the two measurements. A higher incidence of cognitive impairment was also displayed in 2018, with some cases of progression to dementia in Steinert's disease. CONCLUSION. Neurocognitive progression in MD1 seems to respond to a progressive pattern of degeneration, linked to the functions that are most affected from the beginning of the sequelae phase and which usually correspond to the domains of working memory, alternating attention, and visuospatial and visuoconstructive abilities


Assuntos
Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Distrofia Miotônica/fisiopatologia , Distrofia Miotônica/complicações , Transtornos Cognitivos/fisiopatologia , Transtornos Cognitivos/etiologia , Testes Neuropsicológicos , Seguimentos
9.
Am J Clin Pathol ; 153(6): 725-733, 2020 05 05.
Artigo em Inglês | MEDLINE | ID: mdl-32275742

RESUMO

OBJECTIVES: To report the methods and findings of two complete autopsies of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) positive individuals who died in Oklahoma (United States) in March 2020. METHODS: Complete postmortem examinations were performed according to standard procedures in a negative-pressure autopsy suite/isolation room using personal protective equipment, including N95 masks, eye protection, and gowns. The diagnosis of coronavirus disease 2019 (COVID-19) was confirmed by real-time reverse transcriptase polymerase chain reaction testing on postmortem swabs. RESULTS: A 77-year-old obese man with a history of hypertension, splenectomy, and 6 days of fever and chills died while being transported for medical care. He tested positive for SARS-CoV-2 on postmortem nasopharyngeal and lung parenchymal swabs. Autopsy revealed diffuse alveolar damage and chronic inflammation and edema in the bronchial mucosa. A 42-year-old obese man with a history of myotonic dystrophy developed abdominal pain followed by fever, shortness of breath, and cough. Postmortem nasopharyngeal swab was positive for SARS-CoV-2; lung parenchymal swabs were negative. Autopsy showed acute bronchopneumonia with evidence of aspiration. Neither autopsy revealed viral inclusions, mucus plugging in airways, eosinophils, or myocarditis. CONCLUSIONS: SARS-CoV-2 testing can be performed at autopsy. Autopsy findings such as diffuse alveolar damage and airway inflammation reflect true virus-related pathology; other findings represent superimposed or unrelated processes.


Assuntos
Autopsia , Infecções por Coronavirus/patologia , Pulmão/patologia , Pneumonia Viral/patologia , Adulto , Idoso , Autopsia/instrumentação , Betacoronavirus/isolamento & purificação , Técnicas de Laboratório Clínico/normas , Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico , Diagnóstico , Humanos , Hipertensão/complicações , Masculino , Distrofia Miotônica/complicações , Obesidade/complicações , Oklahoma , Pandemias , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico
11.
Muscle Nerve ; 62(3): 309-320, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32212331

RESUMO

Myotonic dystrophies (DM), the most common muscular dystrophies, are known to have significant sleep disturbances. We analyzed the literature on sleep and excessive daytime sleepiness (EDS) in DM over the past 30 years. In this review we provide a brief overview of sleep, sleep disorders, and methods of assessment. We also analyze data regarding major sleep disorders in DM patients, including: sleep-disordered breathing (SDB), with both central and obstructive sleep apneas (CSA,OSA); EDS; sleep-related movement disorders; and poor sleep quality. We review the possible pathogenesis of these disorders and outline management strategies. We also consider possible future avenues for research. The findings highlight the complex set of sleep-related problems, including the primary abnormality of sleep control in myotonic dystrophies. In individual patients the roles of poor sleep hygiene, SDB, primary hypersomnia, and excess fatigue require careful assessment for appropriate management.


Assuntos
Fadiga/complicações , Distrofia Miotônica/complicações , Transtornos do Sono-Vigília/complicações , Fadiga/fisiopatologia , Humanos , Distrofia Miotônica/fisiopatologia , Transtornos do Sono-Vigília/fisiopatologia
12.
PLoS One ; 15(3): e0230003, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32155193

RESUMO

Myotonic dystrophy type 1 (DM1) is an inherited neuromuscular disease which results from an expansion of repetitive DNA elements within the 3' untranslated region of the DMPK gene. Some patients develop multiple pilomatricomas as well as malignant tumors in other tissues. Mutations of the catenin-ß gene (CTNNB1) could be demonstrated in most non-syndromic pilomatricomas. In order to gain insight into the molecular mechanisms which might be responsible for the occurrence of multiple pilomatricomas and cancers in patients with DM1, we have sequenced the CTNNB1 gene of four pilomatricomas and of one pilomatrical carcinoma which developed in one patient with molecularly proven DM1 within 4 years. We further analyzed the pilomatrical tumors for microsatellite instability as well as by NGS for mutations in 161 cancer-associated genes. Somatic and independent point-mutations were detected at typical hotspot regions of CTNNB1 (S33C, S33F, G34V, T41I) while one mutation within CTNNB1 represented a duplication mutation (G34dup.). Pilomatricoma samples were analyzed for microsatellite instability and expression of mismatch repair proteins but no mutated microsatellites could be detected and expression of mismatch repair proteins MLH1, MSH2, MSH6, PMS2 was not perturbed. NGS analysis only revealed one heterozygous germline mutation c.8494C>T; p.(Arg2832Cys) within the ataxia telangiectasia mutated gene (ATM) which remained heterozygous in the pilomatrical tumors. The detection of different somatic mutations in different pilomatricomas and in the pilomatrical carcinoma as well as the observation that the patient developed multiple pilomatricomas and one pilomatrical carcinoma over a short time period strongly suggest that the patient displays a hypermutation phenotype. This hypermutability seems to be tissue and gene restricted. Simultaneous transcription of the mutated DMPK gene and the CTNNB1 gene in cycling hair follicles might constitute an explanation for the observed tissue and gene specificity of hypermutability observed in DM1 patients. Elucidation of putative mechanisms responsible for hypermutability in DM1 patients requires further research.


Assuntos
Análise Mutacional de DNA , Doenças do Cabelo/genética , Mutação , Distrofia Miotônica/complicações , Fenótipo , Pilomatrixoma/genética , Neoplasias Cutâneas/genética , Doenças do Cabelo/complicações , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Instabilidade de Microssatélites , Pilomatrixoma/complicações , Neoplasias Cutâneas/complicações , beta Catenina/genética
13.
J Clin Neurosci ; 74: 242-244, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32063450

RESUMO

Myotonic dystrophy type 1 (DM1) is an autosomal dominant inherited muscular dystrophy caused by an expanded CTG repeat in the dystrophia myotonica protein kinase (DMPK) gene. Cardiac involvements in DM1 are characterized by cardiac conduction delays and atrial or ventricular tachycardia, which increase the risk of sudden cardiac death when compared with general population. Only a few reports have investigated the association between DM1 and inherited arrhythmias, including Brugada syndrome and a splicing abnormality of the SCN5A gene, encodes the α-subunit of cardiac voltage-gated Na+ channels. Here we report a 24-year-old male patient with progressive grip myotonia and dysphagia, who was genetically diagnosed with idiopathic ventricular fibrillation (IVF) caused by a novel V1764fsX1786 frameshift mutation in the SCN5A gene at the age of 18 years. Family history was negative for arrhythmia, cardiac sudden death, and neuromuscular disorders. Genetic analysis using the Southern blot technique revealed 350 CTG repeats in the DMPK gene. This is the first case of DM1 with genetically confirmed overlapping CTG repeat expansion and a V1764fsX1786 frameshift mutation in the SCN5A gene. Our case suggests that a loss-of-function in the cardiac sodium channel may contribute to the cardiac complications in DM1 patients.


Assuntos
Distrofia Miotônica/complicações , Distrofia Miotônica/genética , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Fibrilação Ventricular/etiologia , Fibrilação Ventricular/genética , Adulto , Arritmias Cardíacas , Síndrome de Brugada , Mutação da Fase de Leitura , Humanos , Masculino , Processamento de RNA , Taquicardia Ventricular/complicações , Expansão das Repetições de Trinucleotídeos , Adulto Jovem
14.
Acta Neurol Scand ; 141(5): 380-387, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31889295

RESUMO

OBJECTIVES: The objective of this cross-sectional, observational study was to investigate performance of activities of daily living in patients with myotonic dystrophy type 1 (DM1). MATERIALS AND METHODS: Adults with genetically confirmed DM1 were recruited from Newcastle University (Newcastle upon Tyne, UK) and University College London Hospitals NHS Foundation Trust (London, UK). Data on activities of daily living were recorded through the DM1-ActivC (scale scores range between 0 and 100, where a higher/lower score indicates a higher/lower ability). RESULTS: Our sample comprised 192 patients with DM1 (mean age: 46 years; 51% female). Patients reported most difficulties with running, carrying and putting down heavy objects, and standing on one leg, and least difficulties with eating soup, washing upper body, and taking a shower. Irrespective of the disease duration (mean: 20 years), most patients were able to perform basic and instrumental activities of daily living (eg personal hygiene and grooming, showering, eating, cleaning and shopping), with the exception of functional mobility/transfer tasks (eg walking uphill and running). The mean DM1-ActivC total score was estimated at 71 (95% CI: 68-74). Estimated progenitor cytosine-thymine-guanine repeat length and age explained 27% of the variance in DM1-ActivC total scores (P < .001). CONCLUSIONS: We show that DM1 impairs performance of activities of daily living, in particular those requiring a high degree of muscle strength, stability and coordination. Yet, across the evolution of the disease, the majority of patients will still be able to independently perform most basic and instrumental activities of daily living.


Assuntos
Atividades Cotidianas , Avaliação da Deficiência , Distrofia Miotônica , Adulto , Estudos Transversais , Pessoas com Deficiência , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Distrofia Miotônica/complicações , Distrofia Miotônica/fisiopatologia , Adulto Jovem
15.
Lakartidningen ; 1172020 01 20.
Artigo em Sueco | MEDLINE | ID: mdl-31961442

RESUMO

Myotonic dystrophy type 1 (Steinert's disease) is a rare but important cause of bradycardia in the young. Syncope is primarily considered to be caused by high-degree atrioventricular block II-III but may also be caused by sinus node dysfunction. Life-threatening ventricular arrhythmias do occur, and in cases with impaired systolic left ventricular function, indication for a primary preventive implantable cardiac defibrillator should be evaluated. All patients with myotonic dystrophy type 1 should undergo clinical assessment, 12-lead ECG, 24-hour Holter, and echocardiography annually. We here describe the case of a 24-year-old woman who received a pacemaker due to sinus arrests with syncope caused by myotonic dystrophy type 1.


Assuntos
Bradicardia , Distrofia Miotônica , Marca-Passo Artificial , Arritmias Cardíacas , Bradicardia/etiologia , Eletrocardiografia , Feminino , Humanos , Distrofia Miotônica/complicações , Distrofia Miotônica/diagnóstico , Adulto Jovem
16.
Int J Rehabil Res ; 43(1): 90-94, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31851022

RESUMO

Myotonic dystrophy type 1 is a neuromuscular disease, characterized by a progressive loss of strength, muscle stiffness, and difficulty in relaxation. Myotonic dystrophy type 1 patients can present several neuropsychological deficits, as well as anxiety and mood disorders. Aim of this study is to evaluate the feasibility and the effect of virtual reality in the cognitive and behavioral recovery of myotonic dystrophy type 1 patients. Eleven patients (8 female and 3 male) underwent a specific cognitive rehabilitation program including a conventional neuropsychological treatment followed by a virtual reality neurorehabilitation training using the Virtual Reality Rehabilitation System (Khymeia, Italy). Virtual reality improved many cognitive domains, including executive function, attention, verbal and visuo-spatial abilities, as well as mood and coping strategies. Due to the high prevalence of neuropsychological symptoms in patients with myotonic dystrophy type 1, cognitive rehabilitation should enter into the framework of these patients to potentially boost cognitive and behavioral function and improve quality of life.


Assuntos
Transtornos Cognitivos/reabilitação , Distrofia Miotônica/reabilitação , Reabilitação Neurológica/métodos , Realidade Virtual , Adulto , Transtornos Cognitivos/etiologia , Estudos de Viabilidade , Feminino , Humanos , Estudos Longitudinais , Masculino , Distrofia Miotônica/complicações , Estudos Prospectivos
17.
J Neurol ; 267(2): 461-468, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31673761

RESUMO

OBJECTIVE: Daytime sleepiness and fatigue are prominent symptoms of myotonic dystrophy type I (DM1) that exact a heavy toll on patients' quality of life, but information is scarce on their predictive factors. This study aimed to determine factors that may influence levels of daytime sleepiness and fatigue in a large cohort of DM1 patients followed for 9 years. METHODS: This study included 115 patients with DM1 at baseline (Time 1, T1) and at Time 2 (T2) who were questioned for daytime sleepiness, fatigue, history of depression, psychological distress, pain, hypothyroidism, and sleep habits. Also, their muscular impairment and intellectual quotient were evaluated. Regression models were used to identify correlates of daytime sleepiness and fatigue while controlling for time effect. RESULTS: Both daytime sleepiness and fatigue increased between T1 and T2, but their rate of change are higher when CTG repeat number is higher (p < 0.05). Also, higher psychological distress level is associated with higher daytime sleepiness and fatigue levels both at T1 and T2 (p < 0.01). Moreover, patients with a history of depression report higher daytime sleepiness levels both at T1 and T2 (p < 0.05). In addition, patients with higher fatigue levels both at T1 and T2 have more severe muscular impairment (p < 0.01) and report a longer habitual sleep duration (p < 0.05). Finally, a higher BMI and a history of hypothyroidism predict higher daytime sleepiness levels at T2 (p < 0.05). CONCLUSION: This study identified potentially modifiable risk factors of future daytime sleepiness and fatigue in DM1 patients, including BMI, psychological distress, hypothyroidism, and sleep habits.


Assuntos
Progressão da Doença , Distúrbios do Sono por Sonolência Excessiva , Fadiga , Distrofia Miotônica , Adulto , Distúrbios do Sono por Sonolência Excessiva/etiologia , Distúrbios do Sono por Sonolência Excessiva/fisiopatologia , Distúrbios do Sono por Sonolência Excessiva/psicologia , Fadiga/etiologia , Fadiga/fisiopatologia , Fadiga/psicologia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Distrofia Miotônica/complicações , Distrofia Miotônica/fisiopatologia , Distrofia Miotônica/psicologia , Estudos Prospectivos , Angústia Psicológica , Fatores de Risco
18.
Intern Med ; 59(1): 67-68, 2020 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-31511482

RESUMO

Myotonic dystrophy is a progressive disorder mainly affecting the voluntary muscles. We herein report a rare case of myotonic dystrophy complicated with high-resolution manometry-defined achalasia, the pathology of which is absent relaxation of the smooth muscles of lower esophageal sphincter (LES). In the present case, achalasia was considered a complication of myotonic dystrophy instead of sporadic achalasia, as on performing high-resolution manometry, the finding of an impaired LES relaxation (myotonic phase) changed to a totally emaciated LES function (muscle weakness phase) as myotonic dystrophy progressed.


Assuntos
Acalasia Esofágica/fisiopatologia , Esfíncter Esofágico Inferior/fisiopatologia , Distrofia Miotônica/fisiopatologia , Acalasia Esofágica/diagnóstico por imagem , Acalasia Esofágica/etiologia , Feminino , Humanos , Manometria , Pessoa de Meia-Idade , Relaxamento Muscular , Debilidade Muscular/fisiopatologia , Distrofia Miotônica/complicações , Tomografia Computadorizada por Raios X
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