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1.
Clin Transl Oncol ; 22(12): 2286-2292, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32419111

RESUMO

INTRODUCTION: The number of patients who have a cardiac implantable electronic device (CIEDs) that undergo a course of radiotherapy is increasing due to the ageing population. The majority of clinical studies only evaluate any CIED malfunction at the end of a course of irradiation or in a case of there being symptoms of possible malfunction. As a result, little data has been collected on CIED status acquired during an active course of irradiation. MATERIAL AND METHODS: We aimed to evaluate the correct functioning of a CIED during a course of radiotherapy. So, a retrospective analysis was made of all patients having CIEDS in a single institution during their course of radiotherapy. All CIEDs were systematically checked before and during the course of radiotherapy according to the risk of device failure and patient dependence. RESULTS: Data was analysed from 56 patients (43 men, 13 women) with a mean age of 78.2 years, of whom 87.5% of the patients carried a pacemaker (PM), the 39% of the patients were PM dependent, and the remaining patients carried an implantable cardioverter-defibrillator (ICD). An observable dose of irradiation was evident in only 10 cases. 69.1% of the CIEDs were checked daily and the remainder were checked weekly. During the radiotherapy course, 82% of the patients did not complain of any cardiological event. The CIED of five patients experienced an increase in the threshold and, in another case, a sudden reduction in the duration of the battery was reported. Another patient with a CIED experienced a cardiac insufficiency episode triggered by a ventricular tachycardia. CONCLUSION: In conclusions, although adverse clinical events from exposure of a CIED to irradiation are rare, they can appear in any group of risk. No dose-dependency was observed on the malfunction of the CIED.


Assuntos
Desfibriladores Implantáveis , Análise de Falha de Equipamento , Neoplasias/radioterapia , Marca-Passo Artificial , Radioterapia Conformacional/métodos , Idoso , Idoso de 80 Anos ou mais , Desfibriladores Implantáveis/estatística & dados numéricos , Feminino , Seguimentos , Cardiopatias/terapia , Humanos , Masculino , Marca-Passo Artificial/estatística & dados numéricos , Dosagem Radioterapêutica , Radioterapia Conformacional/efeitos adversos , Radioterapia de Intensidade Modulada , Estudos Retrospectivos
2.
Neuromuscul Disord ; 28(11): 952-955, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30241883

RESUMO

X-linked myotubular myopathy (XLMTM) is a rare neuromuscular condition caused by mutations in the MTM1 gene. Female carriers are believed to be usually asymptomatic; nevertheless, recent reports have displayed a wide a spectrum of clinical involvement in females suggesting that MTM1 mutations might be underestimated in this population. Here we report a 55-year-old woman manifesting with an abrupt respiratory decline, whose respiratory function tests revealed a severe restrictive ventilatory defect. The neurological examination identified mild proximal leg weakness and her cardiac evaluation showed a non-compaction cardiomyopathy with normal left ventricle function. Muscle biopsy was consistent with centronuclear myopathy. Next-generation sequencing of 49 genes related to congenital myopathies allowed the identification of a 4 bp deletion in the MTM1 gene, leading to a truncating mutation previously described in males but for the first time reported in a female patient.


Assuntos
Cardiomiopatias/genética , Mutação , Miopatias Congênitas Estruturais/genética , Proteínas Tirosina Fosfatases não Receptoras/genética , Insuficiência Respiratória/genética , Cardiomiopatias/patologia , Feminino , Heterozigoto , Humanos , Pessoa de Meia-Idade , Debilidade Muscular/genética , Debilidade Muscular/patologia , Músculo Esquelético/patologia , Miopatias Congênitas Estruturais/patologia , Insuficiência Respiratória/patologia
3.
Semergen ; 40(2): e37-42, 2014 Mar.
Artigo em Espanhol | MEDLINE | ID: mdl-24655911

RESUMO

Chest pain is one of the most frequent reasons for consulting in any healthcare setting, however its diagnosis remains a challenge for both Primary Care and Emergency Department physicians. We report a case of an Acute Aortic Syndrome which was diagnosed late after an insidious course of chest pain, repetitive syncope, and in which the delay in diagnosis and treatment could be fatal. We also describe the definition, diagnosis, treatment, and outcome of this condition.


Assuntos
Doenças da Aorta/diagnóstico , Dor no Peito/etiologia , Doença Aguda , Idoso , Doenças da Aorta/fisiopatologia , Diagnóstico Tardio , Diagnóstico Diferencial , Humanos , Masculino , Síndrome
4.
SEMERGEN, Soc. Esp. Med. Rural Gen. (Ed. impr.) ; 40(2): e1-e6, mar. 2014. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-121492

RESUMO

El dolor torácico es uno de los motivos de consulta más frecuentes en cualquier ámbito sanitario, no obstante sigue suponiendo un reto diagnóstico tanto en la consulta del médico de atención primaria como en el ámbito de los médicos que prestan atención en los servicios de urgencias. Describimos un caso de síndrome aórtico agudo que se presentó de forma insidiosa en forma de dolor torácico y síncope de repetición en el que el retraso en el diagnóstico y tratamiento pudo resultar fatal. Hacemos también un breve repaso en la definición, diagnóstico, tratamiento y pronóstico de esta entidad (AU)


Chest pain is one of the most frequent reasons for consulting in any healthcare setting, however its diagnosis remains a challenge for both Primary Care and Emergency Department physicians. We report a case of an Acute Aortic Syndrome which was diagnosed late after an insidious course of chest pain, repetitive syncope, and in which the delay in diagnosis and treatment could be fatal. We also describe the definition, diagnosis, treatment, and outcome of this condition (AU)


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Síndromes do Arco Aórtico/complicações , Síndromes do Arco Aórtico/diagnóstico , Síndromes do Arco Aórtico/terapia , Dor no Peito/complicações , Dor no Peito/diagnóstico , Diagnóstico Diferencial , Hemostasia , Hemostasia Cirúrgica/tendências , Ecocardiografia/métodos , Ecocardiografia , Aneurisma Aórtico/complicações , Aneurisma Aórtico , Dissecção Aórtica/complicações , Dissecção Aórtica/diagnóstico , Dissecção Aórtica/terapia , Atenção Primária à Saúde/métodos , Atenção Primária à Saúde/tendências , Doxazossina/uso terapêutico
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