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1.
Eur J Neurol ; 24(2): 255-261, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-27869334

RESUMO

BACKGROUND AND PURPOSE: Our aim was to determine the prognostic value of urine and blood heteroplasmy in patients with the m.3243A>G mutation. METHODS: Adults with the m.3243A>G mutation referred to our institution between January 2000 and May 2014 were retrospectively included. The relationship between their baseline clinical characteristics, their mutation load in urine and blood, and major adverse events (MAEs) during follow-up, defined as medical complications requiring a hospitalization or complicated by death, was studied. RESULTS: Of the 43 patients (age 45.6 ± 13.3 years) included in the study, 36 patients were symptomatic, including nine with evidence of focal brain involvement, and seven were asymptomatic. Over a 5.5 ± 4.0 year mean follow-up duration, 14 patients (33%) developed MAEs. Patients with MAEs had a higher mutation load than others in urine (60.1% ± 13.8% vs. 40.6% ± 26.2%, P = 0.01) and in blood (26.9% ± 18.4% vs. 16.0% ± 12.1%, P = 0.03). Optimal cutoff values for the prediction of MAEs were 45% for urine and 35% for blood. In multivariate analysis, mutation load in urine ≥45% [odds ratio 25.3; 95% confidence interval (CI) 1.1-567.8; P = 0.04], left ventricular hypertrophy (odds ratio 16.7; 95% CI 1.3- 222.5; P = 0.03) and seizures (odds ratio 48.3; 95% CI 2.5-933; P = 0.01) were associated with MAEs. CONCLUSIONS: Patients with the m.3243A>G mutation are at high risk of MAEs, which can be independently predicted by mutation load in urine ≥45%, a personal history of seizures, and left ventricular hypertrophy.


Assuntos
DNA Mitocondrial/genética , Síndrome MELAS/genética , Mutação , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Síndrome
2.
Rev Neurol (Paris) ; 171(10): 715-29, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26342832

RESUMO

Myofibrillar myopathies (MFM) have been described in the mid-1990s as a group of diseases sharing common histological features, including an abnormal accumulation of intrasarcoplasmic proteins, the presence of vacuoles and a disorganization of the intermyofibrillar network beginning at the Z-disk. The boundaries of this concept are still uncertain, and whereas six genes (DES, CRYAB, LDB3/ZASP, MYOT, FLNC and BAG3) are now classically considered as responsible for MFM, other entities such as FHL1 myopathy or Hereditary Myopathy with Early Respiratory Failure linked to mutations of titin can now as well be included in this group. The diagnosis of MFM is not always easy; as histological lesions can be focal, and muscle biopsy may be disappointing; this has led to a growing importance of muscle imaging, and the selectivity of muscle involvement has now been described in several disorders. Due to the rarity of these myopathies, if some clinical patterns (such as distal myopathy associated with cardiomyopathy due to desmin mutations) are now well known, surprises remain possible and should lead to systematic testing of the known genes in case of a typical histological presentation. In this paper, we aim at reviewing the data acquired on the six main genes listed above as well as presenting the experience from two French reference centres, Paris and Marseilles.


Assuntos
Miofibrilas/patologia , Miopatias Congênitas Estruturais/patologia , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Musculares/genética , Músculo Esquelético/patologia , Miofibrilas/genética , Miopatias Congênitas Estruturais/genética , Miopatias Congênitas Estruturais/terapia , Adulto Jovem
3.
Nat Genet ; 21(3): 285-8, 1999 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10080180

RESUMO

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction blocks which is life-threatening. Two modes of inheritance exist, X-linked (OMIM 310300) and autosomal dominant (EDMD-AD; OMIM 181350). EDMD-AD is clinically identical to the X-linked forms of the disease. Mutations in EMD, the gene encoding emerin, are responsible for the X-linked form. We have mapped the locus for EDMD-AD to an 8-cM interval on chromosome 1q11-q23 in a large French pedigree, and found that the EMD phenotype in four other small families was potentially linked to this locus. This region contains the lamin A/C gene (LMNA), a candidate gene encoding two proteins of the nuclear lamina, lamins A and C, produced by alternative splicing. We identified four mutations in LMNA that co-segregate with the disease phenotype in the five families: one nonsense mutation and three missense mutations. These results are the first identification of mutations in a component of the nuclear lamina as a cause of inherited muscle disorder. Together with mutations in EMD (refs 5,6), they underscore the potential importance of the nuclear envelope components in the pathogenesis of neuromuscular disorders.


Assuntos
Distrofias Musculares/genética , Mutação , Proteínas Nucleares/genética , Sequência de Aminoácidos , Clonagem Molecular , Desoxirribonuclease HpaII/genética , Desoxirribonucleases de Sítio Específico do Tipo II/genética , Éxons , Feminino , Genes Dominantes , Haplótipos , Humanos , Imuno-Histoquímica , Lamina Tipo A , Laminas , Masculino , Repetições de Microssatélites , Dados de Sequência Molecular , Distrofia Muscular de Emery-Dreifuss , Miocárdio/metabolismo , Miocárdio/patologia , Proteínas Nucleares/análise , Proteínas Nucleares/metabolismo , Linhagem , Análise de Sequência de DNA , Homologia de Sequência de Aminoácidos
4.
Clin Exp Rheumatol ; 27(1 Suppl 52): S70-6, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19646350

RESUMO

OBJECTIVE: To examine the diagnostic contributions of cardiac magnetic resonance imaging (CMRI) with delayed-enhancement (DE) in patients with Churg-Strauss syndrome (CSS). METHODS: We consecutively recruited 14 men and 6 women (mean age: 50+/-14 years) with CSS (mean disease duration: 4.5+/-3.6 years) and investigated them independently of the presence/absence of cardiac manifestations. Cardiac manifestations included heart failure in 6 patients, angina pectoris in 1, isolated ECG abnormality in 1, and isolated echocardiography and ECG abnormalities in 1. T1-weighted sequences were recorded after gadolinium injection to study myocardial DE. RESULTS: CMRI abnormalities were found in 13/20 patients, including all 9 patients with myocardial manifestations, and 4 of the 11 asymptomatic patients. DE was centromyocardial in 6 patients, subepicardial in 4, and subendocardial in 3. Most enhanced lesions were in the anteroseptal or lateral walls. Patients with myocardial symptoms and DE had higher transmyocardial wall DE scores (mean: 9.4 vs. 3.7, respectively; p=0.01) and lower left ventricular ejection fractions (mean: 42% vs. 59%; p=0.001) than asymptomatic patients with DE. CONCLUSION: CMRI with DE enabled the detection of myocardial involvement in CSS patients with or without clinical symptoms. The clinical relevance of CMRI abnormalities in patients without clinical, echocardiographic and ECG signs of cardiac involvement remains unknown and needs to be evaluated in future studies. It seems premature to intensify treatment or to prescribe systematically steroids and cytotoxic agents based on the presence of isolated CMRI anomalies.


Assuntos
Síndrome de Churg-Strauss/diagnóstico , Cardiopatias/diagnóstico , Angiografia por Ressonância Magnética/métodos , Miocárdio/patologia , Adolescente , Adulto , Idoso , Síndrome de Churg-Strauss/complicações , Síndrome de Churg-Strauss/fisiopatologia , Angiografia Coronária , Estudos Transversais , Ecocardiografia , Feminino , Cardiopatias/etiologia , Cardiopatias/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Disfunção Ventricular Esquerda/diagnóstico , Disfunção Ventricular Esquerda/etiologia
5.
Acta Anaesthesiol Scand ; 53(4): 522-7, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19239408

RESUMO

BACKGROUND: Pre-operative hypotensive drugs are assumed to have dramatically decreased operative mortality and morbidity in patients undergoing phaeochromocytoma removal only in non-controlled studies. We evaluated the predictive value of pre-operative high systolic arterial pressure (SAP) on intra- and post-operative haemodynamic instability, in 96 patients undergoing laparoscopic adrenalectomy for phaeochromocytoma. METHODS: Ninety-six consecutive patients underwent laparoscopic adrenalectomy for phaeochromocytoma. Pre-operative SAP was not systematically normalised, provided that increased SAP was clinically tolerated. Intravenous nicardipine, esmolol and norepinephrine were intraoperatively titrated to treat SAP increase >150 mmHg, tachycardia >90-110/min, arrhythmia or SAP decrease under 90 mmHg, respectively. Volume expanders were not systematically administered. Patients with increased and normal pre-operative SAP were compared with respect to (a) nicardipine, esmolol and norepinephrine requirement, (b) highest intraoperative SAP and heat rate, (c) lowest intraoperative SAP, (d) duration of surgery and (e) norepinephrine requirement following tumour removal. RESULTS: Groups did not differ significantly with respect to data defined as being indicative of perioperative haemodynamic instability (all P values>0.05). DISCUSSION: As previously demonstrated, in patients undergoing phaeochromocytoma removal, perioperative haemodynamic changes are mainly due to catecholamine release during tumour manipulation, and to the decrease in catecholamine level following tumour removal. Whether pre-operative hypotensive drugs are likely to alter these changes remains questionable. CONCLUSION: For most patients scheduled for laparoscopic phaeochromocytoma removal, surgery can be carried out without systematic pre-operative arterial pressure normalisation.


Assuntos
Adrenalectomia , Pressão Sanguínea , Feocromocitoma/cirurgia , Adulto , Idoso , Catecolaminas/metabolismo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Feocromocitoma/fisiopatologia , Sístole
6.
Arch Mal Coeur Vaiss ; 100(5): 490-5, 2007 May.
Artigo em Francês | MEDLINE | ID: mdl-17646781

RESUMO

Much progress has been made over the last few years in understanding and classifying neuromuscular diseases. The heart is frequently affected but often in a dissociated manner with respect to the neuromuscular signs although it has a significant impact on the prognosis. In children and adolescents, the dystrophinopathies, especially Duchenne's muscular dystrophy, are the principal problems but the mild arrhythmic events observed seem to be related to left ventricular dysfunction. On the other hand, in myotonic dystrophies (Steinert's disease), ventricular arrhythmias or conduction defects may appear at an early stage of the disease with serious consequences justifying appropriate follow-up and invasive preventive measures. Emery Dreifuss X-linked dystrophy and other laminopathies are rare conditions but are associated with sudden death and cardiomyopathies of the young adult. Specialised cardiological follow-up is justified in childhood from the time of diagnosis. Medication or implantable electric devices may be justified before the end of the second decade of life. Progressive infra-hisian conduction defects have also been reported in Kearns-Sayre oculo-pharyngeal myopathy. Prospective studies are required at this age to determine the natural history of these pathologies that are probably under diagnosed. The present recommendations, which are based mainly on data from adult series, could then be adapted for younger patients.


Assuntos
Arritmias Cardíacas/etiologia , Distrofias Musculares/complicações , Doenças Neuromusculares/complicações , Adolescente , Fatores Etários , Arritmias Cardíacas/prevenção & controle , Criança , Seguimentos , Humanos , Distrofias Musculares/classificação
7.
Arch Mal Coeur Vaiss ; 100(3): 189-94, 2007 Mar.
Artigo em Francês | MEDLINE | ID: mdl-17536422

RESUMO

Becker's muscular dystrophy is an X-linked hereditary disorder characterised by progressive muscle weakness and possible cardiac disease. Cardiac involvement is assumed to be rare in young patients. Early diagnosis could lead to earlier treatment at an infra-clinical stage of the disease. The object of the study was to evaluate systolic and diastolic cardiac function of young patients with Becker's disease by echocardiography and using Doppler tissue imaging. Consecutive patients under 20 years of age with Becker's disease confirmed genetically were included and compared with paired normal subjects. Subendocardial and subepicardial myocardial velocities were obtained by Doppler tissue imaging and the corresponding velocity gradients were measured. Twelve patients were included (17.4 +/- 2.5 years). None of them had disabling muscle disease. No significant difference was observed from normal subjects with respect to: ventricular dimensions, wall thickness, fractional shortening, E/A ratio measured by transmitral Doppler. Nevertheless, patients with Becker's disease had lower systolic and diastolic intra-myocardial velocity gradients: 2.2 +/- 1.1 vs. 4.7 +/- 2.4 s(-1), p = 0.006, and 3.6 +/- 2.0 vs. 5.6 +/- 1.3 s(-1), p = 0.048, respectively, compared with the control group. These results show that myocardial disease is possible in patients with Becker's muscular dystrophy under the age of 20. Myocardial Doppler tissue imaging is a sensitive method for detecting these early abnormalities and should be recommended in the young patients.


Assuntos
Cardiomiopatias/diagnóstico , Ecocardiografia Doppler , Distrofia Muscular de Duchenne/complicações , Adolescente , Adulto , Velocidade do Fluxo Sanguíneo/fisiologia , Cardiomiopatias/diagnóstico por imagem , Estudos de Casos e Controles , Diagnóstico Precoce , Ecocardiografia , Eletrocardiografia , Ventrículos do Coração/diagnóstico por imagem , Humanos , Masculino , Valva Mitral/diagnóstico por imagem , Contração Miocárdica/fisiologia , Estudos Prospectivos , Ventriculografia com Radionuclídeos , Volume Sistólico/fisiologia
8.
Circulation ; 99(8): 1041-6, 1999 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-10051298

RESUMO

BACKGROUND: Impulse-conduction abnormalities and arrhythmias are common in myotonic dystrophy (MD). This study was performed to determine whether a correlation exists between electrophysiological (EP) testing data and clinical status, heart function, or size of the DNA abnormality (cytosine-thymine-guanine sequence repeat). METHODS AND RESULTS: Eighty-three MD patients underwent invasive EP studies prompted primarily by the presence of asymptomatic conduction abnormalities. AV conduction disturbances were common and mainly distal (HV interval, 66.2+/-14 ms). AV conduction observed from the surface ECG was generally concordant with endocardial measurements. However, 11 of 20 patients with normal surface ECGs had abnormal subhisian conduction. Atrial arrhythmias were inducible in 41% of cases and correlated with prolongation of the AH interval (P=0.02) and a shorter atrial refractory period (P=0.04). Induction of ventricular arrhythmias (18%) correlated strongly with age (P=0. 0003). After adjustment for age, the extent of DNA mutation correlated with the Walton score (P=0.0018) but not with conduction abnormalities or induction of arrhythmias. CONCLUSIONS: Prolongation of the HV interval is the most common conduction abnormality in MD and can be reliably recognized only by invasive EP testing. It raises the issue of prophylactic pacing to limit the incidence of sudden death in MD. Atrial and ventricular arrhythmias are often inducible, although their predictive value remains to be determined. Young age emerged as the most powerful predictor of inducible ventricular tachyarrhythmias. Conversely, we found no relationship between ECG or EP abnormalities recorded during invasive testing and the DNA mutation size or severity of peripheral muscle involvement.


Assuntos
Coração/fisiopatologia , Mutação , Distrofia Miotônica/fisiopatologia , Repetições de Trinucleotídeos , Adulto , Idoso , Eletrocardiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Distrofia Miotônica/genética
9.
Circulation ; 104(12 Suppl 1): I223-8, 2001 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-11568060

RESUMO

BACKGROUND: There is compelling experimental evidence that autologous skeletal muscle (SM) cell transplantation improves postinfarction cardiac function. This study assessed whether this benefit is still manifested in the clinically relevant setting of a treatment by ACE inhibitors. METHODS AND RESULTS: A myocardial infarction was created in 99 rats by coronary artery ligation. They were divided into 4 groups. Two groups did not receive any drug and were intramyocardially injected 7 days after the infarct with either culture medium alone (control rats, n=16) or autologous SM cells (2.3x10(6) myoblasts) previously expanded ex vivo for 7 days (myoblasts, n=24). Two other groups received the ACE inhibitor perindoprilat (1 mg. kg(-1). d(-1)), started the day of the infarct and continued uninterruptedly thereafter, and underwent time-matched procedures, that is, they were intramyocardially injected at 7 days after infarction with either culture medium alone (ACE inhibitors, n=22) or autologous SM cells (2.5x10(6) myoblasts) previously expanded ex vivo for 7 days (ACE inhibitors+myoblasts, n=37). Left ventricular function was assessed by 2D echocardiography. At the end of the 2-month study, left ventricular ejection fraction (%, mean+/-SEM) was increased in all groups (myoblasts, 37.4+/-1.2; ACE inhibitors, 31.6+/-1.7; ACE inhibitors+myoblasts, 43.9+/-1.4) compared with that in control rats (19.8+/-0.7) (P<0.0001). The improvement in ejection fraction was similar in the ACE inhibitor and the myoblast groups (31.6+/-1.7 versus 37.4+/-1.2, P=0.0636). However, in the ACE inhibitor+myoblast group, this improvement was greater than that seen in hearts receiving either treatment alone (43.9+/-1.4 versus 31.6+/-1.7 in the ACE inhibitor group and 43.9+/-1.4. versus 37.4+/-1.2 in the myoblast group, P<0.0001 and P=0.0084, respectively). CONCLUSIONS: These data provide further support for the clinical relevance of autologous SM cell transplantation in that its cardioprotective effects are additive to those observed with ACE inhibitors.


Assuntos
Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Indóis/uso terapêutico , Músculo Esquelético/transplante , Infarto do Miocárdio/terapia , Animais , Contagem de Células , Modelos Animais de Doenças , Ecocardiografia , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/patologia , Ventrículos do Coração/fisiopatologia , Imuno-Histoquímica , Masculino , Músculo Esquelético/citologia , Infarto do Miocárdio/diagnóstico por imagem , Infarto do Miocárdio/fisiopatologia , Ratos , Ratos Wistar , Volume Sistólico/efeitos dos fármacos , Transplante Autólogo , Resultado do Tratamento , Função Ventricular Esquerda/efeitos dos fármacos
10.
Hum Gene Ther ; 6(10): 1265-74, 1995 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-8590730

RESUMO

Gene therapy for heart diseases requires availability of an efficient vector for gene transfer into myocardium. Recombinant adenovirus expressing the Escherichia coli beta-galactosidase (beta-Gal) gene was shown to infect rat cardiocytes efficiently in vivo. However, a time course of gene expression showed that transgene expression was maximal during the first week following injection, then declined and disappeared by day 21. An immunosuppressive treatment prolonged beta-Gal expression for at least 21 days. On the contrary, a preimmunization of the animals by two intraperitoneal injections of the vector led to a decreased transgene expression 48 hr after intramyocardial injection and to a barely detectable expression at the sixth day. Appearance of adenovirus neutralizing antibodies in preimmunized animals could have contributed to such a refractoriness to further adenoviral infection. Finally, a neonatal intrathymic injection of the vector was able to induce long-term LacZ expression for more than 2 months after heart injection, although neutralizing as well as anti-beta-Gal antibodies were detected in sera of the animals. These results indicate that an immune response against first-generation replication-defective adenoviral vectors is a major cause of transient transgene expression, a cellular response being most probably responsible for ablation of transgene expression in immunocompetent animals.


Assuntos
Adenoviridae/genética , Técnicas de Transferência de Genes , Miocárdio , beta-Galactosidase/genética , Animais , Animais Recém-Nascidos , Anticorpos/sangue , Ciclosporina/farmacologia , Escherichia coli/enzimologia , Escherichia coli/genética , Expressão Gênica/imunologia , Coração/anatomia & histologia , Coração/efeitos dos fármacos , Coração/virologia , Imunização , Imunossupressores/farmacologia , Injeções Intraperitoneais , Miocárdio/imunologia , Miocárdio/metabolismo , Ratos , Ratos Endogâmicos Lew , Proteínas Recombinantes/genética , Proteínas Recombinantes/imunologia , Proteínas Recombinantes/farmacologia , Timo , beta-Galactosidase/imunologia , beta-Galactosidase/farmacologia
11.
Neurology ; 37(4): 663-71, 1987 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-2951614

RESUMO

We used phosphorus NMR spectroscopy to study 16 patients with muscular enzyme deficiencies affecting glycogenolysis and glycolysis. Study of phosphomonoester (Pm) kinetics and intracellular pH during exercise and recovery provided criteria for the distinction of these metabolic myopathies by NMR spectroscopy. The Pm peak was undetectable in patients lacking debrancher enzyme or phosphorylase. By contrast, in phosphofructokinase (PFK) or phosphoglycerate kinase (PGK) deficiency, the Pm peak was larger than that of inorganic phosphate in exercise, whereas it was always smaller in normal subjects. During recovery, the disappearance of Pm was slower in PGK than in PFK deficiency.


Assuntos
Doença de Depósito de Glicogênio Tipo III/diagnóstico , Doença de Depósito de Glicogênio Tipo V/diagnóstico , Doença de Depósito de Glicogênio/diagnóstico , Fosfofrutoquinase-1/deficiência , Fosfoglicerato Quinase/deficiência , Adolescente , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Concentração de Íons de Hidrogênio , Espectroscopia de Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Compostos Organofosforados/metabolismo , Fosfatos/metabolismo , Fósforo , Esforço Físico
12.
Neurology ; 42(1): 91-4, 1992 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-1734329

RESUMO

To test the hypothesis that cerebral metabolism is altered in myotonic dystrophy (MyD), we investigated cerebral glucose kinetics and utilization in 11 adult patients with MyD and 14 healthy controls, using 18F-labeled 2-fluoro-2-deoxy-D-glucose (FDG) and dynamic positron emission tomography. Estimation of rate constants in MyD revealed a reduction of FDG delivery to the brain. Cortical glucose utilization rate was reduced by about 20% in MyD. These findings may be related to the presence of neurologic impairment in MyD and prompt further investigations on the metabolic and clinical features of brain dysfunction in this disease.


Assuntos
Encéfalo/metabolismo , Glucose/metabolismo , Distrofia Miotônica/metabolismo , Adulto , Volume Sanguíneo , Circulação Cerebrovascular , Desoxiglucose/análogos & derivados , Feminino , Fluordesoxiglucose F18 , Humanos , Masculino , Pessoa de Meia-Idade , Distrofia Miotônica/diagnóstico por imagem , Distrofia Miotônica/fisiopatologia , Tomografia Computadorizada de Emissão
13.
Neurology ; 51(5): 1454-6, 1998 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-9818880

RESUMO

In a series of 100 patients exhibiting clinical and molecular features of facioscapulohumeral muscular dystrophy (FSHMD), five patients had conduction defects or arrhythmia in the absence of cardiovascular risk factors--namely, intraventricular conduction delay and supraventricular arrhythmia induced by electrophysiologic investigations (two patients), palpitations associated with supraventricular arrhythmia (one patient), severe atrioventricular block leading to pacemaker implantation (one patient), and ventricular tachycardia related to arrhythmogenic right ventricular cardiomyopathy (one patient). Patients with FSHMD may have cardiac involvement.


Assuntos
Cardiopatias/fisiopatologia , Coração/fisiopatologia , Distrofias Musculares/genética , Distrofias Musculares/fisiopatologia , Adolescente , Adulto , Idoso , Ecocardiografia , Eletrocardiografia , Eletrocardiografia Ambulatorial , Eletrofisiologia/métodos , Feminino , Cardiopatias/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem
14.
Neurology ; 59(4): 620-3, 2002 Aug 27.
Artigo em Inglês | MEDLINE | ID: mdl-12196663

RESUMO

Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy in combination with cardiac and/or skeletal muscle abnormalities are described.


Assuntos
Fibrilação Atrial/genética , Cardiomiopatias/genética , Lipodistrofia/genética , Distrofias Musculares/genética , Proteínas Nucleares/genética , Adulto , Fibrilação Atrial/complicações , Cardiomiopatias/complicações , Cardiomiopatias/diagnóstico , Eletrocardiografia , Evolução Fatal , Feminino , Humanos , Lamina Tipo A , Laminas , Lipodistrofia/complicações , Lipodistrofia/diagnóstico , Distrofias Musculares/complicações , Distrofias Musculares/diagnóstico , Mutação de Sentido Incorreto/genética , Tomografia Computadorizada por Raios X
15.
Neuromuscul Disord ; 3(5-6): 429-32, 1993.
Artigo em Inglês | MEDLINE | ID: mdl-8186687

RESUMO

Golden Retriever dogs manifest an X-linked, Duchenne-like, muscular dystrophy with a characteristic lack of dystrophin. Histologic findings have demonstrated the cardiac involvement in these dogs to be a model for the cardiac insufficiency in human Duchenne muscular dystrophy (DMD). The goal of this study was to assess the capability of radionuclide angiography (RNA) as an assessment tool to measure the ventricular dysfunction in these dogs. Three dogs, one normal and two with muscular dystrophy (MD), were studied by equilibrium gated blood pool. Red blood cells were labelled with 420 MBq of 99mTc. The three dogs lying on their left sides on the table, received no drugs and were not restrained in any manner. RNA left ejection fraction (EF) and echographic measurements of left ventricular fractional shortening (FS) were performed during the same session. EF values were 61%, 48%, 36% and FS values were 47%, 32%, 26%, respectively, for the control dog, the 6 month old MD dog and the 12 month old MD dog. This preliminary study demonstrates the potential usefulness of RNA for the non-invasive follow-up exams of specific therapy in a canine model of muscular dystrophy.


Assuntos
Imagem do Acúmulo Cardíaco de Comporta , Coração/diagnóstico por imagem , Distrofia Muscular Animal/fisiopatologia , Animais , Cães , Distrofina/deficiência , Distrofina/genética , Ecocardiografia/veterinária , Feminino , Imagem do Acúmulo Cardíaco de Comporta/veterinária , Coração/fisiologia , Coração/fisiopatologia , Humanos , Masculino , Tecnécio
16.
Neuromuscul Disord ; 1(2): 99-101, 1991.
Artigo em Inglês | MEDLINE | ID: mdl-1822788

RESUMO

Natural abundance 13C NMR (nuclear magnetic resonance) spectroscopy was used to distinguish patients suffering from muscle glycogenosis type V (McArdle's disease) from normal subjects by measuring their muscle glycogen content at rest. Proton-decoupled 13C spectra were obtained in 10-15 min from calf muscles at rest. The ratio of the glycogen/creatine signal areas was 12.9 +/- 1.7 in four McArdle's disease patients and 2.0 +/- 0.7 in seven normal subjects. This technique thus allows the non-invasive diagnosis of muscle glycogenosis.


Assuntos
Doença de Depósito de Glicogênio Tipo V/diagnóstico , Adulto , Creatina/química , Glicogênio/química , Humanos , Espectroscopia de Ressonância Magnética , Pessoa de Meia-Idade , Músculos/química
17.
Neuromuscul Disord ; 8(1): 39-45, 1998 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-9565989

RESUMO

Myotonic dystrophy (DM) is caused by an expansion of a CTG triplet repeat sequence in the 3'-noncoding region of a protein kinase gene, yet the mechanism by which the triplet repeat expansion causes disease remains unknown. Impaired glucose penetration into brain tissues has been described in DM patients and is a phenomenon that remains unexplained. The present study shows that altered brain glucose metabolism is triplet repeat dependent. We studied brain glucose metabolism (CMRGlu, mumol/100 g/min) by the use of positron emission tomography and 18F-fluoro-2-deoxy-D-glucose in 11 ambulatory non-obese DM patients and in 11 age and sex matched healthy subjects. All subjects underwent a glucose tolerance test with plasma insulin determinations. The expansion of CTG triplet repeats was analyzed in patients with the probe cDNA25 after EcoRI digestion. As compared to controls, in DM patients, the CMRGlu was significantly decreased (26.26 +/- 5.05 vs. 33.43 +/- 2.18, mumol/100 g/min, P = 0.004), and after oral glucose loading, plasma insulin levels were significantly higher and plasma glucose levels remained unchanged (respectively, F = 11.21, P = 0.004 and F = 0.20, P = 0.66). Subsequently, the glucose/insulin ratio was significantly lower in DM patients (F = 6.25, P = 0.02). The length of the expansion of the CTG repeats correlated negatively with the CMRGlu (r2 = 0.63, P = 0.003) and positively with the area under the curve for insulin changes over time after oral glucose (r2 = 0.49, P = 0.016). We conclude that, in DM patients, the brain metabolism of glucose is impaired in a repeat dependent manner.


Assuntos
Encéfalo/metabolismo , Fluordesoxiglucose F18/farmacocinética , Glucose/metabolismo , Distrofia Miotônica/genética , Distrofia Miotônica/metabolismo , Compostos Radiofarmacêuticos/farmacocinética , Repetições de Trinucleotídeos , Atividades Cotidianas , Adulto , Glicemia/metabolismo , Encéfalo/diagnóstico por imagem , Feminino , Teste de Tolerância a Glucose , Humanos , Insulina/sangue , Masculino , Pessoa de Meia-Idade , Distrofia Miotônica/fisiopatologia , Proteínas Quinases/genética , Valores de Referência , Tomografia Computadorizada de Emissão
18.
Transplantation ; 50(5): 751-5, 1990 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-2238049

RESUMO

NADH laser fluorimetry and mitochondrial oxigraphy were used to study myocardial oxidative energy metabolism during cardiac allograft rejection. Heterotopic cardiac transplantation was performed on Lewis rats; allografts (with Fischer rat donors) were compared with isografts (with Lewis rat donors). In vivo and in vitro assays were performed six days after transplantation. Myocardial NADH fluorescence was recorded in vivo from grafted hearts, at baseline; during brief, complete ischemia; and during reperfusion. Oxygen consumption of mitochondria isolated from both native and grafted hearts was determined. Neither baseline levels nor maximum ischemic levels of NADH fluorescence (F0 = k[NADH]) were found to be significantly different between allografts (0.45 +/- 0.05 to 0.87 +/- 0.10) and isografts (0.45 +/- 0.04 to 1.11 +/- 0.05). During recovery, the rate of fluorescence decrease was significantly lower in allografts than in isografts (0.024 +/- 0.001 vs. 0.038 +/- 0.002 delta F0.s-1, P less than 10(-3], indicating a lower rate of NADH reoxidation. In the presence of malate and glutamate substrates, mitochondrial O2 consumption was significantly lower in allografts than in isografts (30 +/- 9 vs. 100 +/- 15 nanoatoms O2. min-1.mg prot-1, P less than 10(-2]. These results indicate that mitochondrial oxidative metabolism was impaired during the rejection process. Such energy production disturbances may contribute to the dysfunction of rejecting hearts.


Assuntos
Rejeição de Enxerto/fisiologia , Transplante de Coração/efeitos adversos , Mitocôndrias Cardíacas/metabolismo , Animais , Lasers , Masculino , Miocárdio/citologia , Miocárdio/metabolismo , NAD/metabolismo , Oxirredução , Oxigênio/metabolismo , Fosforilação , Ratos , Ratos Endogâmicos Lew , Espectrometria de Fluorescência , Transplante Homólogo
19.
J Nucl Med ; 33(4): 471-7, 1992 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-1552326

RESUMO

The prognostic value of 123I-metaiodobenzylguanidine (MIBG) imaging was compared with that of other noninvasive cardiac imaging indices in ninety patients (mean age = 52 +/- 7 yr) suffering from either ischemic (n = 24) or idiopathic (n = 66) cardiomyopathy. Patients had different measurements taken: cardiac MIBG uptake, radionuclide left ventricular ejection fraction, x-ray cardiothoracic ratio and echographic M-Mode data. Cardiac MIBG uptake was assessed as the heart-to-mediastinum activity ratio measured on the chest anterior view image obtained 4 hr after intravenous injection. The patients then had follow-up for 1-27 mo, at which time 10 patients had transplants, 22 had died and 58 were still alive. Data from patients with transplants were not used in the analysis, in which multivariate stepwise regression discriminant analysis showed that cardiac MIBG uptake was more potent to predict survival than other indices: H/M (p less than 0.0001), x-ray cardiothoracic ratio (p = 0.0017), echographic end-diastolic diameter (p = 0.0264) and radionuclide left ventricular ejection fraction (p = 0.0301). Moreover, multivariate life table analysis showed that cardiac MIBG uptake was also the best predictor for life duration: H/M (p = 0.0001), radionuclide left ventricular ejection fraction (p = 0.0098) and x-ray cardiothoracic ratio (p = 0.0139); echographic data were not useful. Thus, cardiac MIBG imaging may be helpful for heart transplantation decision making in patients with heart failure.


Assuntos
Insuficiência Cardíaca/diagnóstico por imagem , Iodobenzenos , 3-Iodobenzilguanidina , Ecocardiografia , Feminino , Seguimentos , França/epidemiologia , Insuficiência Cardíaca/epidemiologia , Insuficiência Cardíaca/mortalidade , Humanos , Radioisótopos do Iodo , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Prognóstico , Cintilografia , Volume Sistólico , Taxa de Sobrevida , Função Ventricular Esquerda/fisiologia
20.
Eur J Heart Fail ; 5(2): 155-60, 2003 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-12644005

RESUMO

OBJECTIVES: To determine if B-type natriuretic peptide (BNP) measurement could be useful in determination of functional capacity in patients suffering from chronic heart failure. BACKGROUND: Evaluating functional capacity is a crucial factor in the follow-up of patients with chronic heart failure. There are numerous methods for measuring functional capacity and their relative merits remain under discussion. Clinical classifications are very subjective and other methods are difficult to use in clinical practice. METHODS: We evaluated functional capacity in 151 consecutive patients using the 6-min walk test. All patients were clinically classified using the New York Heart Association (NYHA) classification. We measured BNP plasma levels using a bedside BNP test. RESULTS: Six minute walk test performance decreased through NYHA classes 1 to 4 (469+/-87, 411+/-82, 325+/-83 and 196+/-63 m, respectively, P<0.01) and BNP levels increased through NYHA classes 1 to 4 (26.3+/-7.2, 73+/-13, 401+/-74 and 924+/-84 pg/ml, respectively, P<0.001). There was a significant correlation between 6-min walk test performance and BNP plasma levels (R=0.69 P<0.001) and a weaker correlation between BNP and left ventricular ejection fraction (R=0.45 P<0.04). In some patients there was a mismatch between NYHA classification and 6-min walk test performance. In all cases BNP could correct the clinical estimation of functional capacity. When we divided the patients into three sub-groups within each NYHA class, we showed that using BNP could better define functional capacity in patients suffering from chronic heart failure in NYHA classes I to III. CONCLUSION: The measurement of BNP levels thus usefully supplements the clinical examination. The existence of bedside BNP testing methods facilitates its use in routine clinical practice. It also permits easier follow-up of patients with chronic heart failure.


Assuntos
Fator Natriurético Atrial/sangue , Insuficiência Cardíaca/sangue , Insuficiência Cardíaca/fisiopatologia , Adolescente , Antagonistas Adrenérgicos beta/administração & dosagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Inibidores da Enzima Conversora de Angiotensina/administração & dosagem , Fator Natriurético Atrial/efeitos dos fármacos , Biomarcadores/sangue , Carbazóis/administração & dosagem , Carvedilol , Doença Crônica , Diuréticos/administração & dosagem , Relação Dose-Resposta a Droga , Seguimentos , França/epidemiologia , Furosemida/administração & dosagem , Insuficiência Cardíaca/classificação , Humanos , Incidência , Lisinopril/administração & dosagem , Pessoa de Meia-Idade , Peptídeo Natriurético Encefálico , Propanolaminas/administração & dosagem , Índice de Gravidade de Doença , Espironolactona/administração & dosagem , Volume Sistólico/fisiologia , Resultado do Tratamento
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