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1.
Acta Cardiol Sin ; 33(3): 315-322, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28630534

RESUMO

The International Committee of Medical Journal Editors (ICMJE) provides recommendations to improve the editorial standards and scientific quality of biomedical journals. These recommendations range from uniform technical requirements to more complex and elusive editorial issues including ethical aspects of the scientific process. Recently, registration of clinical trials, conflicts of interest disclosure, and new criteria for authorship- emphasizing the importance of responsibility and accountability-, have been proposed. Last year, a new editorial initiative to foster sharing of clinical trial data was launched. This review discusses this novel initiative with the aim of increasing awareness among readers, investigators, authors and editors belonging to the Editors' Network of the European Society of Cardiology.

2.
Turk Kardiyol Dern Ars ; 41(6): 522-5, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-24104978

RESUMO

We present the case of a 72-year-old male who underwent a permanent transvenous DDD pacemaker implantation for symptomatic complete heart block. The postoperative surface electrocardiogram (ECG) revealed a right bundle branch block (RBBB) pacing pattern with transition in lead V3 and left bundle branch block (LBBB) in D1, suggesting a malpositioned ventricular lead in the left heart. Malposition of a lead was ruled out by chest X-ray and echocardiogram confirming apical right ventricular pacing. After a literature review, a surface ECG maneuver, by placing leads V1 and V2 one intercostal space lower, restored the usual patterns of paced LBBB pattern. We discuss the literature concerning safe-paced RBBB.


Assuntos
Bloqueio de Ramo/fisiopatologia , Estimulação Cardíaca Artificial , Marca-Passo Artificial , Idoso , Bloqueio de Ramo/diagnóstico , Eletrocardiografia , Humanos , Masculino
3.
Ann Cardiol Angeiol (Paris) ; 70(5): 317-321, 2021 Nov.
Artigo em Francês | MEDLINE | ID: mdl-34627623

RESUMO

Telemedicine has been recognized since 2010 as a constitutive element of care, however, it was not until 2016 that the first national experiments were able to be launched with the aim of validating a framework allowing a possible rapid passage in the common right. These experiments, which are due to end in December 2021, have succeeded in involving more than 100,000 patients, mainly suffering from cardiac pathologies. The arrival of COVID-19 has made it possible to measure the usefulness of practices at a distance both from teleconsultation and telemonitoring, with the appearance of organizational and technical innovations that must now be maintained and developed in order to integrate the telemedicine of tomorrow into our actual medicine.


Assuntos
COVID-19/epidemiologia , Pandemias , Telemedicina/organização & administração , COVID-19/terapia , Diabetes Mellitus/terapia , Insuficiência Cardíaca/terapia , Humanos , Falência Renal Crônica/terapia , Satisfação do Paciente , Consulta Remota/métodos , Consulta Remota/organização & administração , Insuficiência Respiratória/terapia , Telemedicina/economia , Telemedicina/tendências
4.
Front Med (Lausanne) ; 8: 703017, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34805196

RESUMO

Introduction: The COVID-19 pandemic created challenges to healthcare systems worldwide. To allow overwhelmed hospitals to focus on the most fragile and severely ill patients, new types of management had to be set up. During the pandemic, patients with COVID-19 from greater Paris area were monitored at home using a web-based remote system called COVIDOM™, using self-administered questionnaires, which triggered alerts to a regional control center. To ease hospital discharge and to prevent hospital from being overwhelmed, patients still requiring low-flow oxygen therapy discharged home were also included in this telemedicine solution. We aim to evaluate the safety of this original management. Methods: We conducted a retrospective multicenter cohort of patients discharged home from hospital after COVID-19 and still requiring nasal oxygen therapy, who were monitored by questionnaire and trained physicians using COVIDOM. During late follow-up, the status of the patients using a Euro-Qol (EQ-5D-5L) questionnaire, and the Medical Research Council (MRC) Dyspnea scale was collected. Results: From March 21st to June 21st 2020, 73 COVID-19 patients still receiving nasal oxygen at hospital discharge were included. Median [Inter-Quartile Range (IQR)] age was 62.0 [52.5-69.0] years, 64.4% were male. Altogether, risk factors were observed in 49/73 (67%) patients, mainly hypertension (35.6%), diabetes mellitus (15.1%) and active neoplasia (11.0%). Among the cohort, 26% of patients were previously managed in ICU. Oxygen therapy was required for a median [IQR] of 20 [16-31] days. No death or urgent unplanned hospitalization were observed during the COVIDOM telemonitoring. During the late follow-up evaluation (6 months after inclusion), the mean EQ-5D-5L questionnaire score was 7.0 ± 1.6, and the mean MRC dyspnea scale was 0.8 ± 1.0, indicating absence of dyspnea. Five patients have died from non-COVID causes. Conclusions: In this preliminary study, early discharge home of patients with severe COVID-19 disease who still required low-oxygen therapy seems to be safe.

5.
J Surg Res ; 160(2): 308-14, 2010 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-19555975

RESUMO

Several factors are known to limit cardiac transplantation, such as number of donors, quality of cardiac graft preservation, and ischemia-reperfusion injury. Some mechanisms of reperfusion injury are now recognized; they include oxygen free radical (OFR), white blood cells activation, changes in calcium influx, alteration of microvascular blood flow, and sympathetic activation. The goal of this study was to assess the effects of two types of cardioplegia with long-term storage, either static or continuous perfusion, in 30 isolated sheep hearts as a model for heart transplantation. We examined myocardial function, histology, ischemic damage, and markers of oxidative stress. Two types of cardioplegia and storage conditions using a Langendorff reperfusion were studied in a combined approach: crystalloid (CP) [groups I and III] or cold oxygenated autologous blood (BC) [groups II and IV], immediate storage during 8h in profound hypothermia (groups I and II), or reperfused with crystalloid (group III), or blood cardioplegia (group IV). All perfusate samples were drawn from the coronary sinus. Lactate levels increased progressively in groups I, II, and IV, but not in group III, as no significant elevation was shown [90 min: 13.6+/-1.7 versus 5.2+/-1.0 mmol/L (P<0.01)]. Arrhythmias were more frequent when using BC (n=5) than CP (n=0). For plasma thiobarbituric acid-reactive substances (TBARS) levels a significant difference was found between group III and the other groups since 15 to 90 min (P<0.05). Vitamin E concentration decreased significantly from 5 min for groups II and IV, 15 min for group I, and 30 min for group III, with a significant difference between groups II and IV (P<0.05) but not between groups I and III. CP followed by a reperfusion with the same solution showed a significantly lower ischemic injury and OFR production, less frequent ventricular arrhythmias while stable hemodynamic parameters carried on. However, this protocol did not act on the early postoperative contractile function.


Assuntos
Transfusão de Sangue Autóloga , Transplante de Coração , Preservação de Órgãos/métodos , Estresse Oxidativo/efeitos dos fármacos , Compostos de Potássio/farmacologia , Traumatismo por Reperfusão/metabolismo , Animais , Arritmias Cardíacas/metabolismo , Arritmias Cardíacas/patologia , Arritmias Cardíacas/prevenção & controle , Criopreservação/métodos , Glutationa Peroxidase/metabolismo , Sobrevivência de Enxerto , Parada Cardíaca Induzida/métodos , Ácido Láctico/metabolismo , Peroxidação de Lipídeos , Contração Miocárdica , Miocárdio/metabolismo , Miocárdio/patologia , Traumatismo por Reperfusão/patologia , Traumatismo por Reperfusão/prevenção & controle , Ovinos , Superóxido Dismutase/metabolismo , Substâncias Reativas com Ácido Tiobarbitúrico/metabolismo , Pressão Ventricular , Vitamina A/metabolismo , Vitamina E/metabolismo , beta Caroteno/metabolismo
6.
Am J Emerg Med ; 28(2): 256.e1-5, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20159409

RESUMO

We report a cardiac complication in a patient treated with regular doses of venlafaxine. A 49-year-old man with prior normal cardiac function and stable chronic hepatitis C was treated for a major depressive disorder with usual doses of venlafaxine during an 8-month period until the occurrence of a cardiogenic shock in a context of dilated cardiomyopathy. Three months after withdrawal of the drug, the left ventricular ejection fraction returned to normal values. Cardiomyopathy is a rare complication with high doses of venlafaxine that was not previously reported in patients free of prior cardiac disease and cardiomyopathy and treated with usual doses (initially 150 mg daily; after 3 months, 75 mg daily). An objective assessment revealed that venlafaxine was probably implied in the subsequent development of cardiomyopathy when considering the Naranjo Probability Scale. Physicians who usually prescribe venlafaxine have to be briefed on such potential cardiac adverse effects even with usual doses.


Assuntos
Cardiomiopatia Dilatada/induzido quimicamente , Cicloexanóis/efeitos adversos , Inibidores Seletivos de Recaptação de Serotonina/efeitos adversos , Choque Cardiogênico/induzido quimicamente , Humanos , Masculino , Pessoa de Meia-Idade , Cloridrato de Venlafaxina
7.
Rejuvenation Res ; 11(2): 393-8, 2008 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18393653

RESUMO

Oxidative stress (OS) is a keystone in the pathology of the ischemia reperfusion sequence (acute coronary syndromes, cardiac surgery, transplantation). In heart failure, the implication of OS is less understood. This study was intended to evaluate OS in acute heart failure. Criteria for inclusion were consecutive patients hospitalized in our cardiology department for a first pulmonary edema that revealed a dilated cardiomyopathy (DCM). Exclusion criteria included known cardiomyopathy, smoker, acute coronary syndrome, and treatment with angiotensin converting enzyme inhibitors (ACEI) or angiotensin II receptor blockers (ARAII). OS was evaluated in blood samples: thiobarbituric acid-reactive substances (TBARS), total antioxidant status (TAS), plasma alpha-tocopherol, vitamin A, and beta-carotene. Standard biochemical parameters including CRP, fibrinogen, lipid, and creatinine were assayed. Ten patients (80% men, mean age 55.3 +/- 7.9 years) were included and followed during a 6 month period. The etiologies of DCM were alcohol (n = 3), anti-cancer drugs (n = 2), valvulopathies (n = 2), or idiopathic (n = 3). In acute heart failure, TBARS were elevated (1.69 micromol/L; normal value 0.6-4.2 micromol/L) and TAS status was decreased (0.96 mmol/L; normal value 1.3-1.9 pmol/L). OS was more important when patients had atrial or ventricular arrhythmia. Nevertheless, liposoluble antioxidant parameters (beta-carotene, vitamin A, alpha-tocopherol) had a usual value. At the term of the follow-up, patients returned to a stable condition, OS markers revealed normal values, and every Holter ECG showed no supraventricular or ventricular arrhythmias. In acute heart failure, oxygen-free radicals are increased. We thus hypothetized that a modification in OS could be responsible for arrhythmias and complications of acute heart failure.


Assuntos
Insuficiência Cardíaca/metabolismo , Estresse Oxidativo , Doença Aguda , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
8.
Free Radic Res ; 41(8): 911-8, 2007 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-17654048

RESUMO

Xenotransplantation (XT) reveals a growing interest for the treatment of cardiomyopathy. The major barrier is an acute vascular rejection due to an acute humoral rejection. This pathogenesis is a difficult issue and in order to elaborate means for its prevention, we analysed the implication of oxidative stress (OS) on hearts from mini-pigs followed by reperfusion with either autologous or human blood in an attempt to simulate xenotransplantation. About 14 hearts were studied after a Langendorff blood reperfusion: allografts with autologous blood (n = 7) or xenografts with human blood (n = 7). Blood samples were drawn from the coronary sinus to assess ischemia and OS. In xenografts, arrhythmias occurred more frequently (p < 0.01, left ventricular systolic pressure decreased more significantly (p < 0.05), thiobarbituric acid-reactive substances concentrations increased at 30 min (0.7 +/- 0.1 vs. 2.4 +/- 0.3 mmol/l; p < 0.05) while vitamin A levels decreased (p < 0.05). XT was associated with a significant increase in ischemic injury and OS production. OS might play an eminent role in hyperacute humoral rejection.


Assuntos
Rejeição de Enxerto/etiologia , Transplante de Coração , Isquemia Miocárdica/complicações , Estresse Oxidativo , Transplante Heterólogo , Animais , Arritmias Cardíacas/etiologia , Rejeição de Enxerto/fisiopatologia , Rejeição de Enxerto/prevenção & controle , Ventrículos do Coração/fisiopatologia , Humanos , Modelos Animais , Suínos , Porco Miniatura , Substâncias Reativas com Ácido Tiobarbitúrico/análise , Vitamina A/sangue
9.
Nephrol Ther ; 3(6): 384-91, 2007 Oct.
Artigo em Francês | MEDLINE | ID: mdl-17919641

RESUMO

Measurement of urinary albumin excretion (UAE) may be done on a morning urinary sample or on a 24 hours-urine sample. Values defining microalbuminuria are: 24 hour-urine sample: 30-300 mg/24 hours; morning urine sample: 20-200 mg/ml or 30-300 mg/g creatinine or 2.5-25 mg/mmol creatinine (men) or 3.5-35 mg/mol (women). Timed urine sample: 20-200 microg/min. The optimal use of semi-quantitative urine test-strip is not clearly defined. It is generally believed that microalbuminuria reflects a generalized impairment of the endothelium; however, no definite proof has been shown in humans. IN DIABETIC SUBJECTS: Microalbuminuria is a marker of increased risk of cardiovascular (CV) and renal morbidity and mortality in type 1 and type 2 diabetic subjects. The increase in UAE during follow-up is also a marker of CV and renal risk in type 1 and type 2 diabetic subjects; its decrease during follow-up is associated with lower risks. IN NO DIABETIC SUBJECTS: Microalbuminuria is a marker of increased risk for diabetes mellitus, deterioration of the renal function, CV morbidity and all-cause mortality. It is a marker of increased risk for the development of hypertension in normotensive subjects, and is associated with unfavorable outcome in patients with cancer and lymphoma. Persistence or elevation of UAE overtime is associated with deleterious outcome in some hypertensive subjects. Measurement of UAE may be recommended in hypertensive subjects with one or two CV risk factors in whom CV risk remains difficult to assess, and in those with refractory hypertension: microalbuminuria indicates a high CV risk and must lead to strict control of arterial pressure. Studies focused on microalbuminuria in non-diabetic non-hypertensive subjects are limited; most of them suggest that microalbuminuria predicts CV complications and deleterious outcome as it is in diabetic or hypertensive subjects. Subjects with a history of CV or cerebrovascular disease have an even greater CV risk if microalbuminuria is present than if it is not; however, in all cases, therapeutic intervention must be aggressive regardless of whether microalbuminuria is present or not. It is not recommended to measure UAE in non-diabetic non-hypertensive subjects in the absence of history of renal disease. Monitoring of renal function (UAE, serum creatinine and estimation of GFR) is annually recommended in all subjects with microalbuminuria. MANAGEMENT: In patients with microalbuminuria, weight reduction, sodium restriction (<6 g/day), smoking cessation, strict glucose control in diabetic subjects, strict arterial pressure control are necessary; in diabetic subjects: use of maximal doses of ACEI or ARB are recommended; ACEI/ARB and thiazides have synergistic actions on arterial pressure and reduction of UAE; in non diabetic subjects, any of the five classes of antihypertensive medications (ACEI, ARB, thiazides, calcium channel blockers or betablockers) can be used.


Assuntos
Albuminúria/diagnóstico , Albuminúria/etiologia , Albuminúria/urina , Nefropatias Diabéticas/diagnóstico , Ensaio de Imunoadsorção Enzimática , Humanos , Nefelometria e Turbidimetria , Radioimunoensaio
10.
Rev Port Cardiol ; 36(5): 397-403, 2017 May.
Artigo em Inglês, Português | MEDLINE | ID: mdl-28477978

RESUMO

The International Committee of Medical Journal Editors (ICMJE) provides recommendations to improve the editorial standards and scientific quality of biomedical journals. These recommendations range from uniform technical requirements to more complex and elusive editorial issues including ethical aspects of the scientific process. Recently, registration of clinical trials, conflicts of interest disclosure, and new criteria for authorship -emphasizing the importance of responsibility and accountability-, have been proposed. Last year, a new editorial initiative to foster sharing of clinical trial data was launched. This review discusses this novel initiative with the aim of increasing awareness among readers, investigators, authors and editors belonging to the Editors' Network of the European Society of Cardiology.


Assuntos
Políticas Editoriais , Disseminação de Informação , Guias como Assunto
11.
Arch Cardiol Mex ; 87(2): 101-107, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28473184

RESUMO

The International Committee of Medical Journal Editors (ICMJE) provides recommendations to improve the editorial standards and scientific quality of biomedical journals. These recommendations range from uniform technical requirements to more complex and elusive editorial issues including ethical aspects of the scientific process. Recently, registration of clinical trials, conflicts of interest disclosure, and new criteria for authorship - emphasizing the importance of responsibility and accountability -, have been proposed. Last year, a new editorial initiative to foster sharing of clinical trial data was launched. This review discusses this novel initiative with the aim of increasing awareness among readers, investigators, authors and editors belonging to the Editors' Network of the European Society of Cardiology.


Assuntos
Cardiologia , Políticas Editoriais , Disseminação de Informação , Publicações Periódicas como Assunto , Editoração , Cooperação Internacional
12.
Kardiol Pol ; 75(5): 512-517, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28530030

RESUMO

The International Committee of Medical Journal Editors (ICMJE) provides recommendations to improve the editorial standards and scientific quality of biomedical journals. These recommendations range from uniform technical requirements to more complex and elusive editorial issues including ethical aspects of the scientific process. Recently, registration of clinical trials, conflicts of interest disclosure, and new criteria for authorship - emphasizing the importance of responsibility and accountability - have been proposed. Last year, a new editorial initiative to foster sharing of clinical trial data was launched. This review discusses this novel initiative with the aim of increasing awareness among readers, investigators, authors and editors belonging to the Editors' Network of the European Society of Cardiology.


Assuntos
Ensaios Clínicos como Assunto , Políticas Editoriais , Disseminação de Informação , Jornalismo Médico/normas , Autoria , Bioética , Cardiologia , Revelação , Sociedades Médicas
13.
Egypt Heart J ; 69(2): 89-94, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29622961

RESUMO

The International Committee of Medical Journal Editors (ICMJE) provides recommendations to improve the editorial standards and scientific quality of biomedical journals. These recommendations range from uniform technical requirements to more complex and elusive editorial issues including ethical aspects of the scientific process. Recently, registration of clinical trials, conflicts of interest disclosure, and new criteria for authorship -emphasizing the importance of responsibility and accountability-, have been proposed. Last year, a new editorial initiative to foster sharing of clinical trial data was launched. This review discusses this novel initiative with the aim of increasing awareness among readers, investigators, authors and editors belonging to the Editors' Network of the European Society of Cardiology.

14.
Turk Kardiyol Dern Ars ; 45(4): 377-384, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28595212

RESUMO

The International Committee of Medical Journal Editors (ICMJE) provides recommendations to improve the editorial standards and scientific quality of biomedical journals. These recommendations range from uniform technical requirements to more complex and elusive editorial issues including ethical aspects of the scientific process. Recently, registration of clinical trials, conflicts of interest disclosure, and new criteria for authorship -emphasizing the importance of responsibility and accountability-, have been proposed. Last year, a new editorial initiative to foster sharing of clinical trial data was launched. This review discusses this novel initiative with the aim of increasing awareness among readers, investigators, authors and editors belonging to the Editors´ Network of the European Society of Cardiology.


Assuntos
Pesquisa Biomédica , Políticas Editoriais , Disseminação de Informação , Editoração , Humanos , Publicações Periódicas como Assunto
15.
Arq Bras Cardiol ; 108(5): 390-395, 2017 May.
Artigo em Inglês, Português | MEDLINE | ID: mdl-28591318

RESUMO

The International Committee of Medical Journal Editors (ICMJE) provides recommendations to improve the editorial standards and scientific quality of biomedical journals. These recommendations range from uniform technical requirements to more complex and elusive editorial issues including ethical aspects of the scientific process. Recently, registration of clinical trials, conflicts of interest disclosure, and new criteria for authorship - emphasizing the importance of responsibility and accountability-, have been proposed. Last year, a new editorial initiative to foster sharing of clinical trial data was launched. This review discusses this novel initiative with the aim of increasing awareness among readers, investigators, authors and editors belonging to the Editors´ Network of the European Society of Cardiology. Resumo O Comitê Internacional de Editores de Revistas Médicas (ICMJE) fornece recomendações para aprimorar o padrão editorial e a qualidade científica das revistas biomédicas. Tais recomendações variam desde requisitos técnicos de uniformização até assuntos editoriais mais complexos e elusivos, como os aspectos éticos do processo científico. Recentemente, foram propostos registro de ensaios clínicos, divulgação de conflitos de interesse e novos critérios de autoria, enfatizando a importância da responsabilidade e da responsabilização. No último ano, lançou-se uma nova iniciativa editorial para fomentar o compartilhamento dos dados de ensaios clínicos. Esta revisão discute essa nova iniciativa visando a aumentar a conscientização de leitores, investigadores, autores e editores filiados à Rede de Editores da Sociedade Europeia de Cardiologia.


Assuntos
Ensaios Clínicos como Assunto/organização & administração , Conjuntos de Dados como Assunto/normas , Políticas Editoriais , Disseminação de Informação , Publicações Periódicas como Assunto/normas , Ensaios Clínicos como Assunto/normas , Humanos , Cooperação Internacional , Sociedades Médicas
16.
Eur J Heart Fail ; 8(3): 249-56, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16314145

RESUMO

UNLABELLED: This study reports a family affected by a new phenotype associated with dilated cardiomyopathy and quadriceps myopathy. METHODS: 29 family members underwent a physical and neurological examination, including an electromyogram and biopsy of muscle abnormalities. A cardiac examination was performed in all subjects. RESULTS: The family pedigree (n=72) demonstrated that transmission was autosomal dominant. Eleven subjects had cardiac involvement, only four had quadriceps muscle involvement. Cardiac impairment preceded neurological involvement. The mean age for neurological involvement was 44+/-0.8 years (range 43-45) and cardiac involvement was 37+/-7.9 years (range: 24-45). Cardiac involvement consisted of: hypokinetic dilated cardiomyopathy (64%); atrial fibrillation (100%); ventricular arrhythmias (64%); impaired conduction with bundle branch or complete atrio ventricular block (73%). Four patients required pacemakers and anti arrhythmic therapies. Four patients died: two of refractory heart failure and two of sudden death; two patients were resuscitated following cardiac arrest. Three patients required a prophylactic implantable cardiac defibrillator (ICD). Muscle morphological abnormalities were characterized by a variable number of fibers with rimmed vacuoles. The quadriceps deteriorated progressively without impairment of other muscles. Genotypic study showed a lamin A/C gene mutation. CONCLUSIONS: This family was affected by a new phenotype composed of an autosomal dominant severe dilated cardiomyopathy with conduction defects or arrhythmias and quadriceps myopathy. Cardiac abnormalities preceded neuromuscular disorders and defined the prognosis of this disease.


Assuntos
Cardiomiopatia Dilatada/genética , Lamina Tipo A/genética , Doenças Musculares/genética , Mutação , Músculo Quadríceps , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo
17.
Presse Med ; 35(2 Pt 1): 239-42, 2006 Feb.
Artigo em Francês | MEDLINE | ID: mdl-16493354

RESUMO

INTRODUCTION: Mediastinal irradiation treatment has drastically improved the prognosis for several neoplasms, mostly particularly breast cancer and lymphoma. Nonetheless, the increase in survival is accompanied by side effects, including cardiac complications that often appear much later. CASE: This patient with Hodgkin disease received radiation therapy. Complications developed 28 years later and included conduction disorders and chronic pericarditis, first exudative and then constrictive. COMMENTS: As the literature shows, different cardiac complications of radiation therapy can follow one another. Attentive long-term monitoring is necessary for appropriate treatment.


Assuntos
Cardiopatias/etiologia , Doença de Hodgkin/radioterapia , Radioterapia/efeitos adversos , Adulto , Radioisótopos de Cobalto/uso terapêutico , Ecocardiografia , Eletrocardiografia , Seguimentos , Bloqueio Cardíaco/diagnóstico , Bloqueio Cardíaco/etiologia , Bloqueio Cardíaco/terapia , Humanos , Masculino , Marca-Passo Artificial , Pericardite/diagnóstico , Pericardite/etiologia , Pericardite Constritiva/diagnóstico , Pericardite Constritiva/etiologia , Pericardite Constritiva/cirurgia , Derrame Pleural/diagnóstico , Derrame Pleural/diagnóstico por imagem , Derrame Pleural/etiologia , Radiografia Torácica , Dosagem Radioterapêutica , Risco , Fatores de Tempo , Tomografia Computadorizada por Raios X
18.
Hum Mutat ; 21(5): 473-81, 2003 May.
Artigo em Inglês | MEDLINE | ID: mdl-12673789

RESUMO

Heritable dilated cardiomyopathy is a genetically highly heterogeneous disease. To date 17 different chromosomal loci have been described for autosomal dominant forms of dilated cardiomyopathy with or without additional clinical manifestations. Among the 10 mutated genes associated with dilated cardiomyopathy, the lamin A/C (LMNA) gene has been reported in forms associated with conduction-system disease with or without skeletal muscle myopathy. For the first time, we report here a French family affected with a new phenotype composed of an autosomal dominant severe dilated cardiomyopathy with conduction defects or atrial/ventricular arrhythmias, and a specific quadriceps muscle myopathy. In all previously reported cases with both cardiac and neuromuscular involvement, neuromuscular disorders preceded cardiac abnormalities. The screening of the coding sequence of the LMNA gene on all family members was performed and we identified a missense mutation (R377H) in the lamin A/C gene that cosegregated with the disease in the family. Cell transfection experiments showed that the R377H mutation leads to mislocalization of both lamin and emerin. These results were obtained in both muscular (C2C12) and non-muscular cells (COS-7). This new phenotype points out the wide spectrum of neuromuscular and cardiac manifestations associated with lamin A/C mutations, with the functional consequence of this mutation seemingly associated with a disorganization of the lamina.


Assuntos
Cardiomiopatia Dilatada/genética , Lamina Tipo A/genética , Miocárdio/patologia , Adulto , Animais , Células COS , Cardiomiopatia Dilatada/patologia , Linhagem Celular , DNA/química , DNA/genética , Análise Mutacional de DNA , Desmina/análise , Distrofina/análise , Saúde da Família , Feminino , Humanos , Imuno-Histoquímica , Lamina Tipo A/análise , Masculino , Proteínas de Membrana/análise , Pessoa de Meia-Idade , Músculo Esquelético/química , Músculo Esquelético/patologia , Mutação , Mutação de Sentido Incorreto , Miocárdio/metabolismo , Proteínas Nucleares , Linhagem , Plasmídeos/efeitos dos fármacos , Timopoietinas/análise , Transfecção
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