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1.
Prenat Diagn ; 32(13): 1318-23, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23147988

RESUMO

OBJECTIVES: Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with manifestations mainly involving the skeletal, ocular, and cardiovascular systems. The phenotypic variability observed in MFS makes genetic counselling difficult. Prenatal diagnosis (PND) and preimplantation genetic diagnosis are technically feasible when a causal mutation is identified, but both raise many ethical questions in this condition. Little is known about opinions and practices in such reproductive issues in MFS. The goal of this study was to report on patients' points of view and geneticists' standard practices. METHODS: Two different questionnaires were produced. RESULTS: Fifty geneticists filled in the questionnaire. Twenty-two per cent thought that PND was acceptable, 72% debatable and 6% not acceptable. Preimplantation genetic diagnosis was more often reported acceptable (34% of answers). Results varied according to the physician's experience with the disease. Fifty-four answers were collected for patients' questionnaires. Most of them (74%) were favourable to the development of prenatal testing, and believed that the choice should be given to parents. However, only a minority would opt for prenatal diagnosis for themselves. CONCLUSION: This study showed that the majority of patients were in favour of PND and that opinions among practitioners varied widely, but that overall, practitioners favoured a systematic multidisciplinary evaluation of the couple's request.


Assuntos
Genética Médica/estatística & dados numéricos , Síndrome de Marfan/diagnóstico , Pais/psicologia , Diagnóstico Pré-Implantação/psicologia , Diagnóstico Pré-Natal/psicologia , Adolescente , Adulto , Feminino , França , Humanos , Masculino , Síndrome de Marfan/psicologia , Pessoa de Meia-Idade , Inquéritos e Questionários , Adulto Jovem
2.
Clin Genet ; 81(5): 433-42, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-21564093

RESUMO

The diagnosis of Marfan syndrome (MFS) is challenging and international criteria have been proposed. The 1996 Ghent criteria were adopted worldwide, but new diagnostic criteria for MFS were released in 2010, giving more weight to aortic root aneurysm and ectopia lentis. We aimed to compare the diagnosis reached by applying this new nosology vs the Ghent nosology in a well-known series of 1009 probands defined by the presence of an FBN1 mutation. A total of 842 patients could be classified as MFS according to the new nosology (83%) as compared to 894 (89%) according to the 1996 Ghent criteria. The remaining 17% would be classified as ectopia lentis syndrome (ELS), mitral valve prolapse syndrome or mitral valve, aorta, skeleton and skin (MASS) syndrome, or potential MFS in patients aged less than 20 years. Taking into account the median age at last follow-up (29 years), the possibility has to be considered that these patients would go on to develop classic MFS with time. Although the number of patients for a given diagnosis differed only slightly, the new nosology led to a different diagnosis in 15% of cases. Indeed, 10% of MFS patients were reclassified as ELS or MASS in the absence of aortic dilatation; conversely, 5% were reclassified as MFS in the presence of aortic dilatation. The nosology is easier to apply because the systemic score is helpful to reach the diagnosis of MFS only in a minority of patients. Diagnostic criteria should be a flexible and dynamic tool so that reclassification of patients with alternative diagnosis is possible, requiring regular clinical and aortic follow-up.


Assuntos
Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Proteínas dos Microfilamentos/genética , Mutação , Adolescente , Adulto , Criança , Fibrilina-1 , Fibrilinas , Seguimentos , Humanos , Masculino , Adulto Jovem
3.
Ophthalmic Physiol Opt ; 30(5): 705-16, 2010 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-20883358

RESUMO

BACKGROUND: Abnormalities in rod and cone photoreceptor morphology have been reported in normal aging retinas in the absence of known pathology and have been taken as an indicator of susceptibility to retinal disease. Some loss of visual performance may therefore precede retinal structural changes that can be detected reliably using conventional fundus imaging techniques. Red/green (RG) and yellow/blue (YB) colour discrimination thresholds are sensitive measures of normal retinal function and poor YB discrimination is often taken as an indicator of retinal disease, though it is generally acknowledged that RG loss is also present in most cases of acquired deficiency. Although structural changes in age-related macular degeneration (AMD) and diabetes share some similarities, significant differences remain and this may result in different patterns of RG and YB loss. AIM: The aim of this study was to quantify and compare the severity of RG and YB loss of chromatic sensitivity in patients with AMD and diabetes. METHODS: Patients with varying severity of AMD and diabetes and normal subjects of similar age were recruited for the study. RG and YB colour detection thresholds were measured in the two groups of patients and the control group, using the Colour Assessment and Diagnosis (CAD) test. RESULTS: Each AMD subject investigated showed significant, but unequal loss of YB and RG chromatic sensitivity, with YB discrimination showing the greatest loss. Diabetic subjects also exhibited reduced chromatic sensitivity, but with almost equal and highly correlated RG and YB thresholds (R(2) = 0.99). The severity of colour vision loss measured with the CAD test also correlates well with a clinical classification index of disease progression in AMD, and with the level of hyperglycaemic control in diabetes. CONCLUSIONS: These findings suggest that accurate measurements of RG and YB colour thresholds can provide a sensitive measure of functional change in diseases of the retina with patterns of loss that differ significantly in AMD and diabetes.


Assuntos
Defeitos da Visão Cromática/etiologia , Complicações do Diabetes/diagnóstico , Degeneração Macular/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Testes de Percepção de Cores/métodos , Defeitos da Visão Cromática/diagnóstico , Complicações do Diabetes/fisiopatologia , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/fisiopatologia , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/fisiopatologia , Retinopatia Diabética/complicações , Retinopatia Diabética/fisiopatologia , Feminino , Humanos , Degeneração Macular/fisiopatologia , Masculino , Pessoa de Meia-Idade , Limiar Sensorial/fisiologia , Índice de Gravidade de Doença , Acuidade Visual/fisiologia , Adulto Jovem
4.
Rev Med Interne ; 30(12): 1011-9, 2009 Dec.
Artigo em Francês | MEDLINE | ID: mdl-19394720

RESUMO

INTRODUCTION: Endomyocardial fibrosis with apical obliteration is the best known involvement among heart lesions induced by hypereosinophilia. However, hypereosinophilic heart disease may involve all three heart layers, with a polymorphic clinical and echocardiographic presentation. METHODS: Retrospective descriptive study of five patients highlighting the various manifestations of hypereosinophilic heart disease. RESULTS: We report five cases illustrating the variety of hypereosinophilic heart disease and review the pathophysiology of this potentially severe illness: cytotoxicity of eosinophils is mediated by the release of granular proteins that primarily damage the endocardium, leading to thrombosis and embolic complications, then to fibrosis and valvular complications; myocardial involvement may induce a dreadful acute eosinophilic myocarditis; finally, pericardial involvement may cause tamponade. CONCLUSION: These observations highlight the whole spectrum of the heart manifestations of hypereosinophilia, remind that the vital prognosis may be involved in the acute phase and underline that functional prognosis depends on early detection and treatment to reduce the risk of early thromboembolic and late fibrotic complications.


Assuntos
Doenças Cardiovasculares/diagnóstico por imagem , Doenças Cardiovasculares/etiologia , Ecocardiografia , Eosinofilia/complicações , Eosinofilia/diagnóstico por imagem , Adulto , Angiocardiografia , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/fisiopatologia , Eletrocardiografia , Fibrose Endomiocárdica/diagnóstico por imagem , Fibrose Endomiocárdica/etiologia , Eosinofilia/diagnóstico , Eosinofilia/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miocardite/diagnóstico por imagem , Miocardite/etiologia , Pericardite/diagnóstico por imagem , Pericardite/etiologia , Estudos Retrospectivos , Taquicardia Sinusal/etiologia
5.
Am J Med Genet A ; 149A(5): 854-60, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19353630

RESUMO

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and have been associated with a wide range of milder overlapping phenotypes. A proportion of patients carrying a FBN1 mutation does not meet diagnostic criteria for MFS, and are diagnosed with "other type I fibrillinopathy." In order to better describe this entity, we analyzed a subgroup of 146 out of 689 adult propositi with incomplete "clinical" international criteria (Ghent nosology) from a large collaborative international study including 1,009 propositi with a pathogenic FBN1 mutation. We focused on patients with only one major clinical criterion, [including isolated ectopia lentis (EL; 12 patients), isolated ascending aortic dilatation (17 patients), and isolated major skeletal manifestations (1 patient)] or with no major criterion but only minor criteria in 1 or more organ systems (16 patients). At least one component of the Ghent nosology, insufficient alone to make a minor criterion, was found in the majority of patients with isolated ascending aortic dilatation and isolated EL. In patients with isolated EL, missense mutations involving a cysteine were predominant, mutations in exons 24-32 were underrepresented, and no mutations leading to a premature truncation were found. Studies of recurrent mutations and affected family members of propositi with only one major clinical criterion argue for a clinical continuum between such phenotypes and classical MFS. Using strict definitions, we conclude that patients with FBN1 mutation and only one major clinical criterion or with only minor clinical criteria of one or more organ system do exist but represent only 5% of the adult cohort.


Assuntos
Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Proteínas dos Microfilamentos/genética , Adulto , Estudos de Coortes , Ectopia do Cristalino/diagnóstico , Ectopia do Cristalino/genética , Ectopia do Cristalino/patologia , Fibrilina-1 , Fibrilinas , Humanos , Masculino , Síndrome de Marfan/classificação , Síndrome de Marfan/patologia , Mutação , Fenótipo
6.
Eur J Hum Genet ; 17(4): 491-501, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19002209

RESUMO

Mutations in the FBN1 gene cause Marfan syndrome (MFS) and a wide range of overlapping phenotypes. The severe end of the spectrum is represented by neonatal MFS, the vast majority of probands carrying a mutation within exons 24-32. We previously showed that a mutation in exons 24-32 is predictive of a severe cardiovascular phenotype even in non-neonatal cases, and that mutations leading to premature truncation codons are under-represented in this region. To describe patients carrying a mutation in this so-called 'neonatal' region, we studied the clinical and molecular characteristics of 198 probands with a mutation in exons 24-32 from a series of 1013 probands with a FBN1 mutation (20%). When comparing patients with mutations leading to a premature termination codon (PTC) within exons 24-32 to patients with an in-frame mutation within the same region, a significantly higher probability of developing ectopia lentis and mitral insufficiency were found in the second group. Patients with a PTC within exons 24-32 rarely displayed a neonatal or severe MFS presentation. We also found a higher probability of neonatal presentations associated with exon 25 mutations, as well as a higher probability of cardiovascular manifestations. A high phenotypic heterogeneity could be described for recurrent mutations, ranging from neonatal to classical MFS phenotype. In conclusion, even if the exons 24-32 location appears as a major cause of the severity of the phenotype in patients with a mutation in this region, other factors such as the type of mutation or modifier genes might also be relevant.


Assuntos
Éxons/genética , Proteínas dos Microfilamentos/genética , Mutação , Códon sem Sentido , Análise Mutacional de DNA , Ectopia do Cristalino/genética , Fibrilina-1 , Fibrilinas , Humanos , Síndrome de Marfan/genética , Proteínas dos Microfilamentos/metabolismo , Fenótipo
7.
J Magn Reson Imaging ; 28(5): 1180-7, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18972364

RESUMO

PURPOSE: To evaluate aortic elasticity with MRI on young asymptomatic individuals with mutation of the smooth muscle myosin heavy chain in whom aortic enlargement is not present. MATERIALS AND METHODS: Aortic compliance, aortic distensibility, and pulse wave velocity (PWV) were semiautomatically measured from MRI in 8 asymptomatic subjects having a mutation of the MYH11 gene (M+) and 21 nonmutated relatives (M-) of similar age, sex, and blood pressure characteristics. RESULTS: Despite a similar aortic diameter in both groups, the aortic compliance and distensibility were significantly lower in M+ subjects compared with M- (0.84+/-0.33 versus 2.03+/-0.54 mm2/mmHg, 1.18+/-0.62 10(-3) versus 5.11+/-1.58 10(-3) mmHg(-1), respectively), and PWV was significantly higher (5.35+/-1.53 versus 3.60+/-0.64 m.s(-1)). A threshold aortic compliance value of 1.3 mm2/mmHg separated the two groups. The receiver operating characteristics curve analysis indicated an optimal threshold of 2.9 10(-3) mmHg(-1) for aortic distensibility (sensitivity: 87.5%, specificity: 90%), and of 4.4 m.s(-1) for PWV (sensitivity: 75%, specificity: 100%). CONCLUSION: Young asymptomatic adults with MYH11 mutation have an aortic compliance impairment which is not detectable by the sole measurement of the aortic size. Aortic compliance measurement might be part of routine examination in patients suspected of inherited aortic disease even with a normal aortic diameter.


Assuntos
Insuficiência da Valva Aórtica/diagnóstico , Insuficiência da Valva Aórtica/fisiopatologia , Estenose da Valva Aórtica/diagnóstico , Estenose da Valva Aórtica/fisiopatologia , Técnicas de Imagem por Elasticidade/métodos , Interpretação de Imagem Assistida por Computador/métodos , Cadeias Pesadas de Miosina/genética , Adulto , Algoritmos , Velocidade do Fluxo Sanguíneo , Módulo de Elasticidade , Feminino , Predisposição Genética para Doença/genética , Humanos , Aumento da Imagem/métodos , Masculino , Mutação , Prognóstico , Fluxo Pulsátil , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Adulto Jovem
8.
Rev Med Interne ; 28(2): 137-40, 2007 Feb.
Artigo em Francês | MEDLINE | ID: mdl-17125889

RESUMO

INTRODUCTION: Pacemaker implantation is a usual technique in cardiology which may be followed by acute pleural effusion and delayed unusual pericarditis. CASE REPORT: We reported the case of a 67 year-old man hospitalized for faintness. Rhythmical auricular disease was diagnosed and pacemaker was implanted without immediate complication. Though pericarditis with tamponade at the day 21 will require emergency pericardiotomy surgery. A recurrent pericarditis at day 45 was treated with anti-inflammatory drugs without relapse at the end of the treatment. DISCUSSION: Repeated delayed pericarditis after pacemaker surgery may be compared to the Dressler syndrome which occurs after myocardial infarction.


Assuntos
Marca-Passo Artificial/efeitos adversos , Pericardite/etiologia , Síndrome Pós-Pericardiotomia/etiologia , Idoso , Anti-Inflamatórios/uso terapêutico , Diagnóstico Diferencial , Bloqueio Cardíaco/terapia , Humanos , Masculino , Pericardite/diagnóstico , Pericardite/tratamento farmacológico , Síndrome Pós-Pericardiotomia/diagnóstico , Síndrome Pós-Pericardiotomia/tratamento farmacológico , Resultado do Tratamento
9.
Arch Mal Coeur Vaiss ; 99(12): 1178-83, 2006 Dec.
Artigo em Francês | MEDLINE | ID: mdl-18942518

RESUMO

INTRODUCTION: Heart failure with conserved systolic function is frequent and attributed to the diastolic dysfunction. The diagnosis of diastolic heart failure requires the association of clinical signs of heart failure, a conserved left ventricular systolic function and a diastolic dysfunction. OBJECTIVE: To determine the proportion of cases of isolated diastolic heart failure among patients hospitalized for acute pulmonary edema. METHODS: The left ventricular ejection fraction (LVEF), the diastolic function and levels of NT-proBNP have been assessed at admission of 145 patients hospitalized for acute pulmonary edema. RESULTS: 49% of patients included were older than 80 years (mean age 78.6 + 0.9 years). Among the 83 patients with conserved LVEF, 25% had an ischemic heart disease, 24% a severe valvular disease, 22% an atrial fibrillation, 5% a severe bradycardia, 2% a severe hypertrophic obstructive cardiomyopathy. Only 15 patients presented an isolated diastolic heart failure. The level of NT-proBNP was correlated to LVEF but was not able to identify those with isolated diastolic heart failure in the group with "conserved systolic function". CONCLUSION: Among patients hospitalized for acute pulmonary edema, the prevalence of heart failure with conserved systolic function is high, but only 10% of them presented an isolated diastolic heart failure. The NT-proBNP levels do not permit to identify them.


Assuntos
Diástole/fisiologia , Insuficiência Cardíaca/fisiopatologia , Edema Pulmonar/complicações , Sístole/fisiologia , Doença Aguda , Idoso , Idoso de 80 Anos ou mais , Insuficiência Cardíaca/etiologia , Ventrículos do Coração/fisiopatologia , Hemodinâmica , Humanos , Isquemia Miocárdica/complicações , Estudos Prospectivos , Artéria Pulmonar/fisiopatologia , Edema Pulmonar/fisiopatologia , Veias Pulmonares/fisiopatologia , Valores de Referência
10.
Arch Mal Coeur Vaiss ; 98(11): 1130-6, 2005 Nov.
Artigo em Francês | MEDLINE | ID: mdl-16379110

RESUMO

The aims of this study were to evaluate new tools of risk stratification in an unselected population of myocardial infarction (MI), usable in a pre-hospital situation, and to compare the risk profile of these patients with those of other clinical trials or myocardial infarction registries. The risk scores of death at 30 days (TIMI score and TIMI risk index) based on data available in the context of coronary emergencies, were applied to the population base of the MI observatory of myocardial infarction in the Côte d'Or (RICO). The risk profile was expressed by the smoothed graph of frequency distribution of each score. The TIMI score applied to the RICO population had a high discriminating power (c = 0.80) for mortality whereas TIMI risk index was less powerful (c = 0.57). The risk profile of the RICO population was comparable to that of InTIME II, ASSENT 2 and the NRMI with reperfusion registry. The NRMI without reperfusion and the MAGIC studies had different profiles characterised by a shift in the graph towards high risk patients. The authors conclude that risk stratification scores, like the TIMI score, are valuable tools for early triage in the management of MI patients. The risk profiles allow comparative analysis of risk levels of populations notably with respect to other registries and also with respect to randomised clinical trials.


Assuntos
Infarto do Miocárdio/mortalidade , Medição de Risco , Idoso , Ensaios Clínicos como Assunto , Eletrocardiografia , Serviços Médicos de Emergência , Feminino , França/epidemiologia , Humanos , Masculino , Infarto do Miocárdio/terapia , Estudos Prospectivos , Fatores de Risco , Índice de Gravidade de Doença
11.
Arch Mal Coeur Vaiss ; 98(6): 608-14, 2005 Jun.
Artigo em Francês | MEDLINE | ID: mdl-16007813

RESUMO

INTRODUCTION: The occurrence of atrial fibrillation (AF) in the acute phase of myocardial infarction with ST segment elevation is common and responsible for an excess hospital mortality. The aim of this work was to define the incidence, predictive factors, and the prognostic impact of AF during MI with and without raised ST segment in the RICO study. PATIENTS AND METHODS: Between January 2001 and July 2003, 1701 patients were included in this study: 130 (7.6%) had AF in the first 24 hours of management (AF+ group); 1571 (92.4%) remained in sinus rhythm (AF- group). RESULTS: Among the 1701 patients included in this study, 1197 (70.4%) had MI with raised ST and 504 (29.6%) had MI without raised ST. The incidence of AF was identical whatever the type of MI (7.6% with raised ST versus 7.7% without, p=0.334). The presence of Killip class >2 on admission and chronic obstructive pulmonary disease were independent predictive factors for the occurrence of AF (OR=3.84, p=0.007, and OR=2.47, p=0.014 respectively). The presence of AF was significantly associated with the occurrence of ventricular arrhythmia and/or cardiovascular mortality during admission in the non-selected MI population whatever the type of MI (raised ST ; AF+; 34% and AF-; 18%, p<0.01 versus without raised ST; AF+; 36% and AF-; 16%, p = 0.01). CONCLUSION: This study provides evidence that the incidence of AF during the first 24 hours of MI, as well as its poor prognosis, are identical whether or not there is ST segment elevation.


Assuntos
Fibrilação Atrial/etiologia , Infarto do Miocárdio/complicações , Idoso , Fibrilação Atrial/epidemiologia , Fibrilação Atrial/patologia , Eletrocardiografia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Doença Pulmonar Obstrutiva Crônica/complicações , Fatores de Risco
12.
Cas Lek Cesk ; 144(4): 219-23, 2005.
Artigo em Tcheco | MEDLINE | ID: mdl-15945478

RESUMO

Brugada syndrome is believed to be responsible for 4 to 12% of all sudden deaths and for 20% of deaths in patients with structurally normal hearts. As a distinct clinical entity with a high risk of sudden cardiac death it was first described in 1992. The syndrome characterized by ST segment elevation in right precoardial leads V1 to V3 unrelated to ischemia and by electrolyte disturbance without obvious structural heart disease. The clinical findings are based on ECG and syncope or sudden death. The arrhythmia leading to sudden death is a rapid polymorphic ventricular tachycardia. The electrocardiographic signature of the syndrome is dynamic and often concealed, but can be unmasked by potent sodium channel blockers such as flecainde, ajmaline. The Brugada syndrome is a familial disease displaying an autosomal dominant mode of transmission with incomplete penetration and with incidence ranging between 5 and 66 per 10,000. The syndrome has been linked to mutations in SCNA5, the gene encoding for the a subunit of the sodium channel. Implantation of an automatic cardiverter-defibrillator is the only currently proven effective therapy.


Assuntos
Morte Súbita Cardíaca , Morte Súbita Cardíaca/etiologia , Diagnóstico Diferencial , Eletrocardiografia , Humanos , Fatores de Risco , Síndrome , Taquicardia Ventricular/complicações , Fibrilação Ventricular/complicações
14.
Heart ; 91(8): 1030-5, 2005 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15761046

RESUMO

OBJECTIVE: To assess the mechanisms through which an enlarged aortic root may facilitate right to left shunting through a patent foramen ovale. PATIENTS: 19 patients with the platypnoea-orthodeoxia syndrome (POS) were compared with 30 control patients without platypnoea. INTERVENTIONS: Multiplane transoesophageal echocardiography. MAIN OUTCOME MEASURES: The aortic root diameter, atrial septal dimension behind the aortic root, and amplitude of the phasic oscillation of the septum were measured. Four groups of patients were compared: 12 platypnoeic patients with a dilated aortic root (POS-D), 7 platypnoeic patients with a normal aortic root (POS-N), 15 control patients with a dilated aortic root (CONT-D), and 15 control patients with a normal aortic root (CONT-N). RESULTS: In POS-D and CONT-D patients, the apparent atrial septal dimension was 16.3 (2.7) mm and 17.4 (5.9) mm respectively, compared with 24.4 (5.2) mm in POS-N patients and 25 (4) mm in CONT-N (p < 0.005). Furthermore, the amplitude of septal oscillation was 14.7 (2.5) mm in the POS-D group versus 5.8 (2.4) mm in CONT-N (p < 0.001) compared with 23.3 (3) mm in seven patients with an atrial septal aneurysm (p < 0.001). CONCLUSION: Patients with an enlarged aorta have an apparently smaller dimension and increased mobility of the atrial septum. These findings appear to result from compression by the aortic root and decreased septal tautness. Consequently, a "spinnaker effect" with the inferior vena caval flow may take place, opening the foramen ovale and leading to sustained right to left shunting.


Assuntos
Doenças da Aorta/complicações , Comunicação Interatrial/complicações , Hipóxia/etiologia , Adulto , Idoso , Doenças da Aorta/diagnóstico por imagem , Doenças da Aorta/patologia , Estudos de Casos e Controles , Dilatação Patológica/complicações , Dilatação Patológica/diagnóstico por imagem , Dilatação Patológica/patologia , Dispneia/etiologia , Dispneia/patologia , Ecocardiografia Transesofagiana , Feminino , Comunicação Interatrial/diagnóstico por imagem , Comunicação Interatrial/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome
15.
Arch Mal Coeur Vaiss ; 98(12): 1199-205, 2005 Dec.
Artigo em Francês | MEDLINE | ID: mdl-16435598

RESUMO

The aim of this work is to evaluate the relationship between improvement of regional myocardial function and visual analysis of contrast-enhanced (CE) MRI in patients after acute myocardial infarction. MRI was performed on 19 patients 1 and 11 weeks after a reperfused acute myocardial infarction. Perfusion data (first-pass images [FPI] and delayed CE images) were acquired after an intravenous bolus of gadolinium-DTPA and visually analyzed using a 17 segment model. Each segment was then classified in 3 groups, according to the presence or absence of FPI and CE patterns at baseline study: group 0: normal-appearing segments; group 1: segments with delayed hyper-enhancement but no early hypo-enhancement; group 2: segments with early hypoenhancement. Relative Wall thickening (RWT) was analyzed in each segment and its improvement evaluated in each group. Between first MRI and follow-up study, a significant improvement of RWT occurred in group 1 (mean +/- SD) [from 43.43 +/- 26.59% to 76.71 +/- 47.38%; p = 0.001] but not in group 2 (from 32.73 +/- 25.58% to 39.57 +/- 30.57%; p = NS). In group 0, RWT despite normal value at baseline study exhibited a significant improvement at follow-up (from 65.23 +/- 46.52% to 79.73 +/- 48.46%; p = 0.0015). In conclusion, the combined analysis of early and delayed perfusion abnormalities in MRI in the week following myocardial infarction can predict myocardial viability and allows in the future an evaluation of the efficacy of perfusion therapy.


Assuntos
Imageamento por Ressonância Magnética , Infarto do Miocárdio/diagnóstico , Miocárdio/patologia , Idoso , Angioplastia com Balão/métodos , Meios de Contraste/administração & dosagem , Estudos de Avaliação como Assunto , Feminino , Gadolínio DTPA/administração & dosagem , Humanos , Aumento da Imagem , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/patologia , Infarto do Miocárdio/reabilitação , Infarto do Miocárdio/terapia , Reperfusão Miocárdica/reabilitação , Recuperação de Função Fisiológica , Estudos Retrospectivos
16.
Br J Ophthalmol ; 88(9): 1180-5, 2004 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15317712

RESUMO

AIM: To provide a simple test that detects the onset of age related maculopathy (ARM), and can be used to monitor its severity. METHODS: Colour contrast sensitivity was measured using computer graphics techniques. Colour thresholds were measured along tritan and protan colour confusion axes in the presence of dynamic luminance noise. Thresholds were determined separately for two sizes of optotypes (6.5 degrees and 1.5 degrees). Natural pupils were used. Normal values for the test have been established. RESULTS: In all patients with unilateral age related macular degeneration, the smaller optotype was invisible in that eye and in almost all, the larger optotype could not be seen. In the symptomless fellow eyes (with ARM) the larger optotype thresholds were raised. The degree of loss was larger for tritan. For the smaller optotype, protan thresholds were elevated in the majority of patients. Tritan losses were greater and disproportionate to the loss seen with the larger optotype. Every person including those with minimal fundal changes had tritan test results for 1.5 degree optotypes >2 SD above the normal mean. Tritan thresholds varied with the severity of the ARM. CONCLUSIONS: The test is sensitive, simple and quick to administer, and easy for patients. Therefore, it should be useful in detecting and monitoring elderly people with age related changes in their fundi before irreversible loss of vision has occurred.


Assuntos
Testes de Percepção de Cores/métodos , Degeneração Macular/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Sensibilidades de Contraste/fisiologia , Feminino , Fundo de Olho , Humanos , Degeneração Macular/fisiopatologia , Masculino , Pessoa de Meia-Idade , Sensibilidade e Especificidade , Limiar Sensorial/fisiologia , Índice de Gravidade de Doença , Acuidade Visual/fisiologia
17.
J Biomed Mater Res B Appl Biomater ; 70(2): 303-10, 2004 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-15264313

RESUMO

Preventing coronary in-stent restenosis is a major challenge for physicians and industry. To assess new stent technologies, a comparative paired iliac artery model in rabbits is proposed. One tubular stent was implanted in each external iliac artery in 12 rabbits (i.e., 24 stents). An artery overdilatation level of 20% was strictly observed. Restenosis was examined at 30 days by angiography, intravascular ultrasound (IVUS) examination, and histomorphometry. On quantitative angiography, the mean loss of angiographic diameter was 9.8 +/- 4.4% in the right as compared to 9.3 +/- 55% in the left artery (p = 0.75). On IVUS, the volume of intrastent neointimal proliferation was 26.6 +/- 4.9 mm(3) in the right and 25.8 +/- 3.5 mm(3) in the left artery (p = 0.58). In histomorphometry, the neointimal proliferation area was 0.78 +/- 17 mm(2) in the right and 0.76 +/- 0.17 mm(2) in the left artery (p = 0.87). Intrastent neointimal proliferation was comparable between the left and right arteries of all rabbits. The model has three main advantages: (1) arterial dilatation and thus arterial wall aggression are controlled, (2) pairing makes each animal its own control subject, and (3) the statistical power for comparative testing is maximized. The model enables the effect of a new drug-delivery device to be assessed.


Assuntos
Reestenose Coronária/etiologia , Modelos Animais de Doenças , Artéria Ilíaca/patologia , Stents/efeitos adversos , Animais , Constrição Patológica , Reestenose Coronária/patologia , Masculino , Coelhos , Túnica Íntima/patologia
18.
Arch Mal Coeur Vaiss ; 97(3): 195-200, 2004 Mar.
Artigo em Francês | MEDLINE | ID: mdl-15106742

RESUMO

National therapeutic strategies in acute coronary syndromes (ACS) required revaluation, especially with regards to reperfusion. RICO is an observatory of ACS in the Côte d'Or district. Between January 1st 2001 and April 31st 2003, the cases of 706 patients with ACS and persistent ST elevation or appearances of left bundle branch block eligible for revascularisation (admitted < 12 hours after onset of symptoms and no contra-indications to thrombolysis), were reviewed. The number of revascularised patients was 488 (69%) and 218 (31%) were not revascularised. Thrombolysis was the most commonly used method of revascularisation (66%) in this district: 34% underwent primary angioplasty. Multivariate analysis showed only three independent predictive factors of non-reperfusion during the acute phase. They were: age (> or = 75 years) (p < 0.001), left bundle branch block (p = 0.002) and hospital admission > or = 6 hours after onset of symptoms (p < 0.001). These results confirm the utility of developing networks to improve the efficacy of management and reduce the delay before hospital admission. They also identify specific population groups, the elderly for example, who require specific therapeutic strategies for coronary revascularisation in ACS.


Assuntos
Doença das Coronárias/tratamento farmacológico , Eletrocardiografia , Fibrinolíticos/uso terapêutico , Terapia Trombolítica , Doença Aguda , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Angioplastia Coronária com Balão/estatística & dados numéricos , Bloqueio de Ramo/tratamento farmacológico , Bloqueio de Ramo/epidemiologia , Bloqueio de Ramo/fisiopatologia , Bloqueio de Ramo/terapia , Comorbidade , Contraindicações , Doença das Coronárias/epidemiologia , Doença das Coronárias/fisiopatologia , Doença das Coronárias/cirurgia , Doença das Coronárias/terapia , Diagnóstico Precoce , Feminino , França/epidemiologia , Hospitalização , Humanos , Masculino , Revascularização Miocárdica/estatística & dados numéricos , Vigilância da População , Estudos Prospectivos , Fatores de Risco
19.
Cardiology ; 102(1): 37-40, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-14988617

RESUMO

METHODS AND RESULTS: 101 patients hospitalized for acute non-ST-elevation myocardial infarction (NSTEMI) were included in the study. Median N-terminal fragment of the brain natriuretic peptide (BNP) prohormone (Nt-proBNP) plasma level was 136 (40-335) pmol/l. Patients with increasing levels of troponin I [from low (0.1-10 ng/ml), intermediate (10-40 ng/ml) to high (> or =40 ng/ml) levels] had significantly increased levels of Nt-proBNP (p < 0.05). High-risk patients classified by a high PURSUIT score (i.e. supramedian) had significantly increased Nt-proBNP levels compared to patients with low scores (p < 0.001). Moreover, patients with in-hospital events (death, recurrent MI or clinical heart failure: 27%) had significantly increased median levels of Nt-proBNP compared to event-free patients (184 vs. 105 pmol/l, p = 0.02). CONCLUSION: Our data in an unselected population of NSTEMI patients indicate that high levels of circulating Nt-proBNP levels are associated with an increased risk of early cardiovascular events.


Assuntos
Sistema de Condução Cardíaco/fisiopatologia , Infarto do Miocárdio/sangue , Proteínas do Tecido Nervoso/sangue , Fragmentos de Peptídeos/sangue , Idoso , Eletrocardiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/fisiopatologia , Peptídeo Natriurético Encefálico , Valor Preditivo dos Testes , Estudos Prospectivos , Fatores de Risco
20.
Arch Mal Coeur Vaiss ; 97 Spec No 3: 47-50, 2004 Dec.
Artigo em Francês | MEDLINE | ID: mdl-15666482

RESUMO

Intravenous insulin therapy is used in diabetic patients at the acute phase of coronary syndrome (ACS). However, hyperglycemia in diabetic patients is a powerful predictive factor for patient outcome as it is associated with a doubling of in-hospital mortality and poor long-term prognosis. Recent studies involving non-diabetic patients show that even mild hyperglycemia in the setting of ACS is also a predictive factor of in-hospital mortality. Moreover, the new entity called impaired fasting glucose (IFG) (6.1 to 7 mmol/L) is not only an independent factor of mortality for coronary patients, but very recently has also been associated with a doubling of the risk of in-hospital mortality in the setting of ACS. Admission as well as follow-up glycaemia are fundamental parameters in ACS on the one hand for their prognostic value, and on the other end as a diagnostic tool in determining the presence of diabetes or IFG.


Assuntos
Angina Instável/diagnóstico , Glicemia , Infarto do Miocárdio/sangue , Infarto do Miocárdio/diagnóstico , Doença Aguda , Angina Instável/sangue , Humanos , Valor Preditivo dos Testes , Síndrome
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