Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 24
Filtrar
1.
BMC Pregnancy Childbirth ; 24(1): 449, 2024 Jun 28.
Artigo em Inglês | MEDLINE | ID: mdl-38943053

RESUMO

BACKGROUND: Educational programs incorporating physical activity (PA) sessions and nutritional workshops have demonstrated potential benefits for overweight and obese pregnant women. However, participation in such programs remains challenging. This prospective study aimed to investigate the factors influencing participation and regular attendance, while examining changes in health behaviors, along with obstetric and neonatal outcomes. METHODS: Pregnant women with at 12-22 weeks' gestation a BMI ≥ 25 kg/m2 were invited to join an educational program combining three nutritional workshops conducted in groups and 12 weekly PA sessions. They self-selected their participation into the program. Regardless of program uptake and regularity of attendance, the women's PA levels, eating behaviors, and affectivity were assessed using validated questionnaires at 20-24 weeks, 32-34 weeks, and postpartum. A multivariable logistic regression model was used to determine the factors influencing participation. RESULTS: Of the 187 women enrolled in the study, 61.5% agreed to participate in the program. Of these, only 45% attended six or more sessions (regardless of the nature of sessions, i.e. nutritional workshops and/or PA sessions), while only 8.7% attended six or more PA sessions. Participation was associated with higher rates of problematic eating behaviors and lower PA levels at baseline, while regular attendance was mainly associated with higher household incomes. No significant difference was observed between participants and non-participants in terms of changes in eating behaviors, PA levels, or affectivity. However, at the 32-34 week visit, regular participants displayed a higher change in positive affectivity, but unexpectedly also in cognitive restraint, than non-regular participants, a difference that did not persist at postpartum. CONCLUSION: The educational program combining nutrition and PA was shown to be safe. Women facing challenges related to health behavior displayed a willingness to sign up for the program, but tailored interventions addressing their individual challenges are needed to improve attendance. Accordingly, four recommendations are proposed for the design of future interventions. TRIAL REGISTRATION: ClinicalTrials.gov; Identifier: NCT02701426; date of first registration: 08/03/2016.


Assuntos
Exercício Físico , Obesidade , Sobrepeso , Complicações na Gravidez , Humanos , Feminino , Gravidez , Adulto , Estudos Prospectivos , Obesidade/terapia , Sobrepeso/terapia , Comportamento Alimentar/psicologia , Cuidado Pré-Natal/métodos , Comportamentos Relacionados com a Saúde
2.
J Hand Surg Eur Vol ; 49(2): 257-263, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37717179

RESUMO

The aim of this single-centre retrospective study was to evaluate the outcomes of carpal tunnel release surgery in patients with hereditary neuropathy with pressure palsies (HNPP). The secondary aims were to identify prognostic factors for the outcome of carpal tunnel release and to assess the outcome of cubital tunnel release. Our primary hypothesis was postoperative improvement. In total, 18 patients (26 carpal tunnel releases) with at least one symptomatic carpal tunnel syndrome were included. At a median follow-up of 8.5 years, more than 73% of the patients were satisfied with the results. The visual analogue scale (0 to 10) for discomfort decreased by 2.2 points (p < 0.001). The Boston Carpal Tunnel Questionnaire symptom severity scale decreased by 1.3 points (p < 0.001). The decrease in the Functional Status Scale was not significant. No significant prognostic factor for outcome was identified. A total of 12 patients also underwent cubital tunnel release, and three patients underwent just this procedure (23 procedures). Despite the lack of preoperative data, cubital tunnel release provided encouraging results. Level of evidence: III.


Assuntos
Síndrome do Túnel Carpal , Humanos , Estudos Retrospectivos , Síndrome do Túnel Carpal/cirurgia , Medição da Dor , Paralisia , Extremidade Superior
3.
J Hand Surg Eur Vol ; 48(2): 108-114, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36165407

RESUMO

The aim of this study was to determine the clinical and radiographic outcomes and survivorship of the ISIS® (Evolutis™, Briennon, France) trapeziometacarpal prosthesis at a minimum follow-up of 5 years. Of the 77 implants (66 patients) reviewed at a mean follow-up of 107.5 months, pain and function had improved significantly. Fourteen cups (19%) and three stems (4%) appeared to have loosened on radiographs. Loosening occurred more often with cemented cups than screwed cups (p = 0.0342). In five cases, the prosthesis was removed and revised by trapeziectomy and interposition: four were cemented cups (three loosening, one trapezium fracture) and one was a loosened metacarpal stem. A single case of dislocation occurred during the follow-up period. The survival rate was 94% (95% CI: 85 to 97). The ISIS® prosthesis is a reliable implant for treating disabling thumb basal joint arthritis, with a low complication rate and long-lasting clinical and functional improvements. Using a screwed trapezial cup instead of a cemented one appears to prevent loosening and the need for surgical revision.Level of evidence: IV.


Assuntos
Artroplastia de Substituição , Articulações Carpometacarpais , Prótese Articular , Osteoartrite , Trapézio , Humanos , Seguimentos , Osteoartrite/cirurgia , Articulações Carpometacarpais/cirurgia , Trapézio/cirurgia , Falha de Prótese , Polegar/cirurgia
4.
Front Public Health ; 10: 955559, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36324473

RESUMO

Cervical cancer screening (CCS) by Pap tests is mainly performed by gynecologists in France, but also by general practitioners (GPs) and midwives. The screening uptake is insufficient to reduce the incidence of cervical neoplasms. Our aim was to investigate the association between screening rates in patients listed with GPs and the distance between GPs' offices and gynecology facilities. The population of 345 GPs, and their 93,918 female patients eligible for screening over 3 years (2013-2015), were derived from the Health Insurance claim database. We estimated the socioeconomic level of the geographical area of GPs' offices using the European Deprivation Index (EDI). The proximity of gynecology facilities was calculated by computing their distance from GPs' offices (in order to adjust the proximity of gynecology facilities with EDI and performance of smears by the GP). The number of gynecologists within 5 km of a GP's office was associated with the CCS rate increasing by 0.31% for every unit increase in the density of gynecologists within 5 km (p < 0.0001). The close proximity of gynecology facilities was not significantly associated with screening uptake among female patients when the office of the GP where they were registered was settled in a deprived area.


Assuntos
Medicina Geral , Ginecologia , Neoplasias do Colo do Útero , Humanos , Feminino , Detecção Precoce de Câncer , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/epidemiologia , Neoplasias do Colo do Útero/prevenção & controle , Seguimentos
5.
Acta Neurochir Suppl ; 126: 221-228, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29492565

RESUMO

OBJECTIVE: In the case of ventriculomegaly in the elderly, it is often difficult to differentiate between communicating chronic hydrocephalus (CCH) and brain atrophy. The aim of this study is to describe the MRI criteria of CCH, defined by a symptomatic patient with ventriculomegaly and that improved after shunt placement. MATERIALS AND METHODS: Magnetic resonance imaging was prospectively evaluated in 90 patients with ventriculomegaly. Patients were classified into three groups: patients without clinical signs of CCH (control, n = 47), patients with CCH treated by shunt placement with clinical improvement (responders, n = 36), and patients with CCH treated using a shunt without clinical improvement (nonresponders, n = 7). MRI parameters of the two groups of interest (responders vs. controls) were compared. RESULTS: Compared with controls, Evans' index (p = 0.029), ventricular area (p < 0.01), and volume (p = 0.0001) were higher in the responders. In this group, the callosal angle was smaller (p ≤ 0.0001) and the aqueductal stroke volume (SVa) of CSF was higher (p ≤ 0.0001) than in controls. On the ROC curves, the optimal cut-off values for differentiating between responders and controls were a ventricular area >33.5 cm2, a callosal angle <90.8° and a SVa > 136.5 µL/R-R. In multivariate analysis, responders remained associated with SVa and callosal angle, with a c-statistic of 0.90 (95%CI, 0.83-0.98). CONCLUSION: On suspicion of CCH, a large ventricular area, a small callosal angle, and an increased aqueductal stroke volume are important MRI arguments that can be associated with the clinical evaluation and dynamic testing of CSF to confirm the indication for a shunt.


Assuntos
Ventrículos Cerebrais/diagnóstico por imagem , Derivações do Líquido Cefalorraquidiano/métodos , Hidrocefalia de Pressão Normal/cirurgia , Hidrocefalia/cirurgia , Idoso , Encéfalo/diagnóstico por imagem , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia de Pressão Normal/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Análise Multivariada , Seleção de Pacientes
6.
J Womens Health (Larchmt) ; 27(7): 933-938, 2018 07.
Artigo em Inglês | MEDLINE | ID: mdl-29583084

RESUMO

PURPOSE: Cervical cancer screening reduces the incidence and specific mortality rate of cervical neoplasms. In most cases screening by means of Pap smears is performed in France by gynecologists. The primary objective of this study was to confirm whether the participation rate is increased when general practitioners (GPs) carry out the smears themselves. The secondary objective was to evaluate other independent characteristics of GPs predicting participation rates in women. METHODS: The population of 347 GPs, including their relevant characteristics and their 90,094 female patients eligible for screening over 2 years (2013-2014), was derived from the SIAM claim database of the Flanders Healthcare Insurance Fund (CPAM). A telephone survey among all GPs was carried out to know whether they were performing smears in their surgeries. RESULTS: A total of 343 GPs were included for analysis (98.8% participation rate). The mean cervical cancer screening participation rate over 2 years among all the women in the recommended age group (25-65 years) was 43.3% (±6.9). Bivariate analysis showed that participation rate was higher when the GP performed smears (adjusted difference of mean: 2.06 [95% CI: 0.67-3.45], p = 0.037) and whether the GP was female (2.08 [0.42-3.74], p = 0.0144). After multivariate analysis the only significant characteristic of the GP was the performance of smears (1.71 [0.27-3.16], p = 0.0204). CONCLUSIONS: Cervical smears performed by GPs led to increased screening participation rates within the recommended age group of women. However, the size of this increase is insufficient to reach the expected participation rates.


Assuntos
Detecção Precoce de Câncer/estatística & dados numéricos , Clínicos Gerais/estatística & dados numéricos , Programas de Rastreamento/estatística & dados numéricos , Teste de Papanicolaou/estatística & dados numéricos , Neoplasias do Colo do Útero/diagnóstico , Esfregaço Vaginal/estatística & dados numéricos , Adulto , Idoso , Estudos Transversais , Feminino , França , Humanos , Pessoa de Meia-Idade , Atenção Primária à Saúde , Neoplasias do Colo do Útero/prevenção & controle
7.
Europace ; 20(2): 362-369, 2018 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-28017936

RESUMO

Aims: Studies assessing radiofrequency ablation (RFA) of ventricular tachycardia (VT) in arrhythmogenic right ventricular cardiomyopathy (ARVC) report VT recurrences, but have not evaluated the impact of RFA on relevant clinical events during follow-up. We aimed to investigate relevant RFA outcomes in a multicentric registry. Methods and results: This study included 49 patients with ARVC (46 with definite diagnosis, 3 with borderline diagnosis according to revised Task Force Criteria) who underwent 92 RFA procedures (83 endocardial, 9 combined endo-epicardial) between 1999-2015. Ventricular tachycardia recurrences and VT burden were assessed after each procedure or after the last RFA. Over a mean follow-up of 64 ± 51 months, VT-free survival was 37% at 1 year, 19% at 5 years, and 14% at 10 years. Ventricular tachycardia burden was significantly reduced after one procedure (23 vs. 11 VT episodes/year, P < 0.01) and after the last RFA (14 vs. 2 VT episodes/year, P < 0.01). Over a mean follow-up of 49 ± 52 months, clinical response after the last RFA (freedom from sudden cardiac death, VT requiring hospitalization, or heart transplantation) was 86% at 1 year, 69% at 5 years, and 60% at 10 years. Clinical response was associated with right ventricular dysfunction (RVD) and low numbers of mappable VT before the first RFA. Conclusion: RFA was predominantly targeted at the endocardial surface. Ventricular tachycardia recurrences were common, but few ARVC patients experienced major clinical events during follow-up. Further studies should investigate the benefit of extensive substrate ablation combined with endo-epicardial strategies.


Assuntos
Displasia Arritmogênica Ventricular Direita/complicações , Ablação por Cateter , Taquicardia Ventricular/cirurgia , Adulto , Displasia Arritmogênica Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Ablação por Cateter/efeitos adversos , Intervalo Livre de Doença , Feminino , França , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/etiologia , Taquicardia Ventricular/fisiopatologia , Fatores de Tempo , Resultado do Tratamento
8.
Eur J Radiol ; 85(2): 337-45, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26781138

RESUMO

OBJECTIVE: To investigate whether there were suspicious criteria on the initial MRI in BIRADS 3 lesions. To analyze the value of "blooming sign" as an additional criterion for malignancy. MATERIALS AND METHODS: In this retrospective study the lesion morphological and enhancement characteristics were analyzed. The "blooming sign" (BS), defined as the lesion size increase between the early and the late phase after gadolinium was assessed. We determined the optimal cut-off value for the BS to distinguish benign and malignant breast lesions. RESULTS: 100 lesions were classified BIRADS 3 in 75 patients (12%). Four of the five malignant lesions had suspicious BIRADS criteria on the index MRI. 45 lesions were stable and 30 lesions resolved spontaneously during the follow-up MRI. The optimal cut-off value for the BS was 8.54% with 100% sensitivity, 94% specificity, 44% positive and 100% negative predictive values. Using reclassification rule to upgrade benign BIRADS lesions with suspicious BS feature and downgrade suspicious BIRADS lesions with benign BS feature increased MRI specificity (89%), sensitivity (100%) while preserving NPV (100%). CONCLUSIONS: This study showed the suggestive part of classified BIRADS 3 lesions. The blooming sign seems to be a good additional parameter to increase MRI specificity when associated to BIRADS criteria.


Assuntos
Neoplasias da Mama/patologia , Imageamento por Ressonância Magnética/métodos , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade
9.
Eur Radiol ; 20(5): 1188-96, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-19890644

RESUMO

OBJECTIVE: To evaluate image quality of dual-source computed tomography (CT) angiograms acquired with high temporal resolution and high pitch modes. METHODS: Two groups of 70 consecutive patients underwent chest CT angiography with dual-source, single-energy CT, with an 83-ms temporal resolution and a pitch of 2 (group 1) or a pitch of 3 (group 2). Subjective and objective image quality and the diagnostic value were assessed by two radiologists in consensus. The radiation dose was recorded. RESULTS: The image quality was always diagnostic in both groups, rated as excellent in 97% of group 1 (68/70) and 98.5% of group 2 (69/70) examinations. Although no statistically significant difference in subjective image noise was found between the two groups (p = 0.3055), objective noise was found to be statistically higher in group 2 (p < 0.0001). The signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were found to be significantly higher in group 1 than in group 2 (p = 0.0014). The acquisition time was significantly shorter in group 2 than in group 1 (p < 0.0001). The dose-length product was significantly lower in group 2 than in group 1 (p < 0.0001). CONCLUSION: High temporal resolution and high pitch modes provided standard CT angiographic examinations of excellent quality for thoracic applications in routine clinical practice.


Assuntos
Broncopatias/diagnóstico por imagem , Pneumopatias/diagnóstico por imagem , Interpretação de Imagem Radiográfica Assistida por Computador/métodos , Radiografia Torácica/métodos , Tomografia Computadorizada por Raios X/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Angiografia/métodos , Distribuição de Qui-Quadrado , Meios de Contraste/administração & dosagem , Feminino , Humanos , Iohexol/administração & dosagem , Masculino , Pessoa de Meia-Idade , Doses de Radiação , Estudos Retrospectivos
10.
J Comput Assist Tomogr ; 33(6): 981-6, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19940672

RESUMO

PURPOSE: To compare peripheral pulmonary artery image quality at 80 kVp and 140 kVp in the same patients. MATERIALS AND METHODS: Image quality of third-, fourth- and fifth-order arteries was assessed at 80 kV and 140 kV on 1-mm-thick transverse scans, generated from dual-source computed tomography (CT) acquisitions. RESULTS: The mean level of enhancement was significantly higher at 80 kV compared with 140 kV for the third-, fourth-, and fifth-order arteries (P < 0.0001). Despite a higher noise level at 80 kV (P < 0.0001), the signal-to-noise ratio and contrast-to-noise ratio were significantly higher at 80 kV than at 140 kV at the level of third-, fourth-, and fifth-order arteries (P < 0.0001). The mean vascular attenuation, mean signal-to-noise ratio and contrast-to-noise ratio for peripheral arteries were significantly superior at 80 kV in the 3 body mass index categories (P < 0.005). CONCLUSIONS: Eighty-kilovolt protocols significantly improve the image quality of peripheral pulmonary arteries on CT angiograms of the chest.


Assuntos
Artéria Pulmonar/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Índice de Massa Corporal , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Interpretação de Imagem Radiográfica Assistida por Computador , Estudos Retrospectivos , Estatísticas não Paramétricas
11.
Eur Radiol ; 19(12): 2834-43, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19533149

RESUMO

The purpose of the study was to assess pulmonary perfusion on a lobar level in smokers using dual-energy computed tomography (CT). Forty-seven smokers and ten non-smokers underwent a dual-energy multi-detector CT angiogram of the chest that allowed automatic quantification of emphysema and determination of the iodine content at the level of the microcirculation (i.e. "perfusion imaging"). Emphysema was present in 37 smokers and absent in ten smokers. Smokers with an upper lobe predominance of emphysema (n = 8) had: (1) significantly lower attenuation enhancement values in the upper lobes compared with smokers without emphysema; (2) the lobes with the most severe emphysematous changes had a statistically significantly higher percentage of emphysema (p = 0.0001) and lower mean attenuation enhancement values (p = 0.0001) than the ipsilateral lobes with less severe emphysema, matching parenchymal destruction; (3) a correlation was found between the difference in percentage of emphysema between the upper and lower lobes and the difference in attenuation attenuation enhancement values in the corresponding lobes (p = 0.0355; r = -0.54). Regional alterations of lung perfusion can be depicted by dual-energy CT in smokers with predominant emphysema.


Assuntos
Angiografia/métodos , Enfisema/diagnóstico por imagem , Enfisema/fisiopatologia , Imagem de Perfusão/métodos , Circulação Pulmonar , Imagem Radiográfica a Partir de Emissão de Duplo Fóton/métodos , Fumar/fisiopatologia , Adulto , Idoso , Enfisema/etiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Fumar/efeitos adversos , Tomografia Computadorizada por Raios X/métodos
12.
J Rheumatol ; 33(9): 1789-801, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16960939

RESUMO

OBJECTIVE: To investigate the use of high resolution computed tomography (HRCT) in diagnosis of patients with fibrosing alveolitis associated with systemic sclerosis (FA-SSc), and to determine predictors of disease progression. METHODS: We retrospectively studied 90 patients with SSc who had undergone an initial (Time 1) and followup (Time 2) clinical and HRCT evaluation, with a mean +/- SD interval of 5.14 +/- 2.98 years between T1 and T2. RESULTS: At T1, HRCT was normal in 40 patients; at T2, 34/40 (85%) continued to have a normal HRCT. For the 50 patients with FA-SSc on HRCT scan at T1, the overall disease progression comprised extension of lung changes toward the apices with worsening of lung fibrosis at T2. Among the 37 patients who had areas of isolated ground-glass opacities at T1, 25 (68%) had progression of lung fibrosis at T2. These 25 patients were mostly men, who showed a more marked decrease of diffusing capacity and a longer interval between T1 and T2. CONCLUSION: The results emphasize the good longterm prognosis indicated by a normal initial HRCT in SSc. Patients with FA-SSc with abnormal HRCT experienced progressive replacement of ground-glass opacities by honeycombing and/or traction bronchiectasis/bronchiolectasis. Ground-glass opacity is probably the first step of lung fibrosis in SSc, and treatment should be discussed even at this early stage.


Assuntos
Fibrose Pulmonar/diagnóstico por imagem , Fibrose Pulmonar/etiologia , Intensificação de Imagem Radiográfica/métodos , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde/métodos , Prognóstico , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade
13.
Diabetes ; 55(3): 856-61, 2006 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-16505255

RESUMO

Adiponectin is a metabolic link between adipose tissue and insulin action, mediating part of obesity-associated insulin resistance and type 2 diabetes. Two adiponectin receptors have been identified, and we investigated whether sequence variations in adiponectin receptor 1 (ADIPOR1) and adiponectin receptor 2 (ADIPOR2) genes could contribute to the genetic risk for type 2 diabetes in a case-control study of 1,498 Caucasian subjects. We sequenced the putative functional regions of the two genes in 48 subjects and selected single nucleotide polymorphisms (SNPs) from the public database. Five SNPs in ADIPOR1 and 12 in ADIPOR2 were tested for association with type 2 diabetes. No SNP of ADIPOR1 showed association in any of the samples from the French population. In contrast, three SNPs of ADIPOR2 showed nominal evidence for association with type 2 diabetes before correction for multiple testing (odds ratio [OR] 1.29-1.37, P = 0.034-0.014); only rs767870, located in intron 6, was replicated in an additional diabetes dataset (n = 636, OR 1.29, P = 0.020) with significant allelic association from the overall meta-analysis of 2,876 subjects (adjusted OR 1.25 [95% CI 1.07-1.45], P = 0.0051). In conclusion, our data suggest a modest contribution of ADIPOR2 variants in diabetes risk in the French population.


Assuntos
Diabetes Mellitus Tipo 2/genética , Polimorfismo de Nucleotídeo Único , Receptores de Superfície Celular/genética , População Branca/genética , Adulto , Idoso , Feminino , Haplótipos , Humanos , Masculino , Pessoa de Meia-Idade , Receptores de Adiponectina
14.
Diabetes ; 55(4): 1171-6, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16567544

RESUMO

One of the most replicated loci influencing type 2 diabetes-related quantitative traits (quantitative trait loci [QTL]) is on chromosome 3q27 and modulates both type 2 diabetes-and metabolic syndrome-associated phenotypes. A QTL for type 2 diabetes age of onset (logarithm of odds [LOD] score = 3.01 at D3S3686, P = 0.0001) was identified in a set of French families. To assess genetic variation underlying both age-of-onset QTL and our previous type 2 diabetes linkage in a 3.87-Mb interval, we explored 36 single nucleotide polymorphisms (SNPs) in two biologically relevant candidate genes for glucose homeostasis, kininogen (KNG1), and eukaryotic translation initiation factor 4alpha2 (EIF4A2). Analysis of 148 families showed significant association of a frequent SNP, rs266714, located 2.47 kb upstream of EIF4A2, with familial type 2 diabetes (family-based association test, P = 0.0008) and early age of onset (P = 0.0008). This SNP also contributes to both age-of-onset QTL (1.13 LOD score decrease P = 0.02) and type 2 diabetes linkage (genotype identical-by-descent sharing test, P = 0.02). However, no association was observed in three independent European diabetic cohorts. EIF4A2 controls specific mRNA translation and protein synthesis rate in pancreatic beta-cells, and our data indicates that EIF4A2 is downregulated by high glucose in rat beta-INS832/13 cells. The potential role of EIF4A2 in glucose homeostasis and its putative contribution to type 2 diabetes in the presence of metabolic stress will require further investigation.


Assuntos
Cromossomos Humanos Par 3 , Diabetes Mellitus Tipo 2/genética , Fator de Iniciação 4A em Eucariotos/genética , Idade de Início , Mapeamento Cromossômico , Feminino , França , Genes Dominantes , Genes Recessivos , Humanos , Cininogênios/genética , Masculino , Núcleo Familiar , Polimorfismo de Nucleotídeo Único , Locos de Características Quantitativas , Razão de Masculinidade
15.
BMC Genet ; 6: 19, 2005 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-15823203

RESUMO

BACKGROUND: Cocaine and amphetamine regulated transcript (CART) is an anorectic neuropeptide located principally in hypothalamus. CART has been shown to be involved in control of feeding behavior, but a direct relationship with obesity has not been established. The aim of this study was to evaluate the effect of polymorphisms within the CART gene with regards to a possible association with obesity in a Caucasian population. RESULTS: Screening of the entire gene as well as a 3.7 kb region of 5' upstream sequence revealed 31 SNPs and 3 rare variants; 14 of which were subsequently genotyped in 292 French morbidly obese subjects and 368 controls. Haplotype analysis suggested an association with obesity which was found to be mainly due to SNP-3608T>C (rs7379701) (p = 0.009). Genotyping additional cases and controls also of European Caucasian origin supported further this possible association between the CART SNP -3608T>C T allele and obesity (global p-value = 0.0005). Functional studies also suggested that the SNP -3608T>C could modulate nuclear protein binding. CONCLUSION: CART SNP -3608T>C may possibly contribute to the genetic risk for obesity in the Caucasian population. However confirmation of the importance of the role of the CART gene in energy homeostasis and obesity will require investigation and replication in further populations.


Assuntos
Proteínas do Tecido Nervoso/genética , Obesidade/genética , Polimorfismo Genético , População Branca/genética , Sequência de Bases , Estudos de Casos e Controles , Genótipo , Humanos , Polimorfismo de Nucleotídeo Único , Fatores de Risco
16.
Proc Natl Acad Sci U S A ; 102(13): 4807-12, 2005 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-15774581

RESUMO

KLF11 (TIEG2) is a pancreas-enriched transcription factor that has elicited significant attention because of its role as negative regulator of exocrine cell growth in vitro and in vivo. However, its functional role in the endocrine pancreas remains to be established. Here, we report, for the first time, to our knowledge, the characterization of KLF11 as a glucose-inducible regulator of the insulin gene. A combination of random oligonucleotide binding, EMSA, luciferase reporter, and chromatin immunoprecipitation assays shows that KLF11 binds to the insulin promoter and regulates its activity in beta cells. Genetic analysis of the KLF11 gene revealed two rare variants (Ala347Ser and Thr220Met) that segregate with diabetes in families with early-onset type 2 diabetes, and significantly impair its transcriptional activity. In addition, analysis of 1,696 type 2 diabetes mellitus and 1,776 normoglycemic subjects show a frequent polymorphic Gln62Arg variant that significantly associates with type 2 diabetes mellitus in North European populations (OR = 1.29, P = 0.00033). Moreover, this variant alters the corepressor mSin3A-binding activity of KLF11, impairs the activation of the insulin promoter and shows lower levels of insulin expression in pancreatic beta cells. In addition, subjects carrying the Gln62Arg allele show decreased plasma insulin after an oral glucose challenge. Interestingly, all three nonsynonymous KLF11 variants show increased repression of the catalase 1 promoter, suggesting a role in free radical clearance that may render beta cells more sensitive to oxidative stress. Thus, both functional and genetic analyses reveal that KLF11 plays a role in the regulation of pancreatic beta cell physiology, and its variants may contribute to the development of diabetes.


Assuntos
Proteínas de Ciclo Celular/fisiologia , Diabetes Mellitus Tipo 2/genética , Regulação da Expressão Gênica , Insulina/metabolismo , Ilhotas Pancreáticas/fisiologia , Polimorfismo Genético , Proteínas Repressoras/fisiologia , Fatores de Transcrição/fisiologia , Proteínas Reguladoras de Apoptose , Composição de Bases , Sequência de Bases , Estudos de Casos e Controles , Proteínas de Ciclo Celular/genética , Imunoprecipitação da Cromatina , Europa (Continente) , Componentes do Gene , Humanos , Insulina/genética , Luciferases , Dados de Sequência Molecular , Linhagem , Regiões Promotoras Genéticas/genética , Proteínas Repressoras/genética , Alinhamento de Sequência , Análise de Sequência de DNA , Fatores de Transcrição/genética
17.
Radiology ; 230(1): 116-24, 2004 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-14645883

RESUMO

PURPOSE: To evaluate image quality obtained with anatomically adapted online tube current modulation and preset minimum dose savings at multi-detector row spiral computed tomographic (CT) angiography of the thoracic outlet. MATERIALS AND METHODS: A total of 100 patients were evaluated for thoracic outlet arterial syndrome with spiral CT angiography (collimation, 4 x 1 mm; pitch, 1.75) both with and without dose reduction by means of anatomically adapted online tube current modulation and preset minimum dose savings. Preset minimum savings of 20% and of 32% were applied in two groups of 50 patients (groups 1 and 2). In each group, low-dose scanning was performed in 25 patients in the neutral position and in 25 patients after postural maneuver. Tube current-time product, noise, presence and quality of graininess and of linear streak artifacts on transverse CT scans, and diagnostic value of sagittal reformations and volume-rendered images were evaluated and recorded for each data set. chi2 test was used to compare frequencies; paired Wilcoxon rank test, to compare subjective and objective image quality scores. P <.05 indicated a significant difference. RESULTS: In group 1, mean tube current-time product was 3225 mAs for reference scans and 2101 mAs for low-dose scans (mean reduction, 35%; range, 27%-47%). In group 2, mean was 3070 mAs for reference scans and 2068 mAs for low-dose scans (mean reduction, 33%; range, 17%-38%). In group 1, no differences in frequencies of graininess and linear streaking or in noise level were found between images acquired with or without dose reduction. In group 2, no difference was found in noise level between low-dose and reference scans. On low-dose scans, moderate linear streaking was observed with lower frequency and moderate graininess was observed with higher frequency, but artifacts did not compromise image quality or prevent confident assessment of arterial diameter in the three compartments of the thoracic outlet. CONCLUSION: Online tube current modulation with a preset minimum dose saving of 20% allowed 35% reduction in mean tube current-time product, with no loss in image quality.


Assuntos
Angiografia/métodos , Síndrome do Desfiladeiro Torácico/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Adulto , Angiografia/instrumentação , Feminino , Humanos , Masculino , Estudos Prospectivos , Doses de Radiação
18.
PLoS Biol ; 1(3): E68, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14691540

RESUMO

The gene GAD2 encoding the glutamic acid decarboxylase enzyme (GAD65) is a positional candidate gene for obesity on Chromosome 10p11-12, a susceptibility locus for morbid obesity in four independent ethnic populations. GAD65 catalyzes the formation of gamma-aminobutyric acid (GABA), which interacts with neuropeptide Y in the paraventricular nucleus to contribute to stimulate food intake. A case-control study (575 morbidly obese and 646 control subjects) analyzing GAD2 variants identified both a protective haplotype, including the most frequent alleles of single nucleotide polymorphisms (SNPs) +61450 C>A and +83897 T>A (OR = 0.81, 95% CI [0.681-0.972], p = 0.0049) and an at-risk SNP (-243 A>G) for morbid obesity (OR = 1.3, 95% CI [1.053-1.585], p = 0.014). Furthermore, familial-based analyses confirmed the association with the obesity of SNP +61450 C>A and +83897 T>A haplotype (chi(2) = 7.637, p = 0.02). In the murine insulinoma cell line betaTC3, the G at-risk allele of SNP -243 A>G increased six times GAD2 promoter activity (p < 0.0001) and induced a 6-fold higher affinity for nuclear extracts. The -243 A>G SNP was associated with higher hunger scores (p = 0.007) and disinhibition scores (p = 0.028), as assessed by the Stunkard Three-Factor Eating Questionnaire. As GAD2 is highly expressed in pancreatic beta cells, we analyzed GAD65 antibody level as a marker of beta-cell activity and of insulin secretion. In the control group, -243 A>G, +61450 C>A, and +83897 T>A SNPs were associated with lower GAD65 autoantibody levels (p values of 0.003, 0.047, and 0.006, respectively). SNP +83897 T>A was associated with lower fasting insulin and insulin secretion, as assessed by the HOMA-B% homeostasis model of beta-cell function (p = 0.009 and 0.01, respectively). These data support the hypothesis of the orexigenic effect of GABA in humans and of a contribution of genes involved in GABA metabolism in the modulation of food intake and in the development of morbid obesity.


Assuntos
Cromossomos Humanos Par 10/genética , Cromossomos Humanos Par 10/ultraestrutura , Glutamato Descarboxilase/genética , Glutamato Descarboxilase/fisiologia , Isoenzimas/genética , Isoenzimas/fisiologia , Obesidade Mórbida/genética , Obesidade/genética , Adulto , Idoso , Alelos , Autoanticorpos/química , Estudos de Casos e Controles , Catálise , Linhagem Celular , Mapeamento Cromossômico , Ingestão de Alimentos , Saúde da Família , Comportamento Alimentar , Feminino , Ligação Genética , Genótipo , Glutamato Descarboxilase/química , Haplótipos , Humanos , Fome , Insulina/metabolismo , Secreção de Insulina , Células Secretoras de Insulina/metabolismo , Isoenzimas/química , Escore Lod , Luciferases/metabolismo , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Neuropeptídeo Y/metabolismo , Razão de Chances , Núcleo Hipotalâmico Paraventricular/metabolismo , Plasmídeos/metabolismo , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Risco , Inquéritos e Questionários , Ácido gama-Aminobutírico/metabolismo
19.
Eur Radiol ; 13(5): 1165-71, 2003 May.
Artigo em Inglês | MEDLINE | ID: mdl-12695841

RESUMO

The aim of this study was to evaluate the accuracy of 3-mm-thick reconstructed sections in the diagnosis of bronchiectasis with multislice CT (MSCT). Forty consecutive patients suspected of bronchiectasis (23 females, 17 males; mean age 51 years) underwent MSCT of the entire thorax with a 4x1-mm collimation (120 kV, 0.5 s/rotation, 80 mAs/slice) and a pitch of 1.75. From each data set (mean z-axis coverage: 257 mm; mean duration: 21 s), two series of images were systematically generated: 1-mm (group 1) and 3-mm (group 2)-thick reconstructed scans. Both series of images were obtained at 10-mm intervals and reconstructed with a high-spatial-frequency algorithm. Two observers independently analyzed the presence of bronchiectasis and associated abnormalities in group-1 and group-2 lung images. No significant difference between group 1 and group 2 was found in: (a) the detection of bronchiectasis, identified in 24 patients (60%) in group 1 and in 23 patients (57.5%) in group 2 ( p=0.08); (b) the evaluation of the extent of bronchiectasis, identifying focal bronchiectasis in 10 patients (25%) in group 1 and 7 patients (17.5%) in group 2 ( p=0.39) and multifocal bronchiectasis in 16 patients (40%) in both groups; (c) the characterisation of bronchiectasis (cylindral bronchiectasis: group 1, n=24, 60%; group 2, n=21, 53%, p=0.08); varicose bronchiectasis: group 1, n=5, 12.5%; group 2, n=6, 15%, p=0.56); and cystic bronchiectasis: group 1, n=2, 5%; group 2, n=2, 5%). Apart from the identification of abnormal bronchial wall thickening (group 2, n=35, 87.5%, vs group 1, n=31, 77.5%, p<0.05), recognition of associated bronchopulmonary anomalies did not differ between the two groups. This study demonstrates a comparable accuracy of the 3- and 1-mm-thick reconstructed scans in the detection and characterization of bronchiectasis. These results suggest the potential usefulness of 3-mm-thick scans generated from 4x2.5-mm acquisitions in the screening of bronchiectasis, which would allow a 20% radiation dose reduction compared with the present investigation.


Assuntos
Bronquiectasia/diagnóstico , Tomografia Computadorizada Espiral/métodos , Adulto , Idoso , Artefatos , Bronquiectasia/classificação , Bronquiectasia/patologia , Feminino , França , Humanos , Interpretação de Imagem Assistida por Computador , Pulmão/diagnóstico por imagem , Pulmão/patologia , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Valor Preditivo dos Testes , Estudos Prospectivos , Sensibilidade e Especificidade , Índice de Gravidade de Doença
20.
J Comput Assist Tomogr ; 27(2): 266-73, 2003.
Artigo em Inglês | MEDLINE | ID: mdl-12703024

RESUMO

PURPOSE: To evaluate the diagnostic accuracy of coronal thin sections as an alternative to transverse high-resolution computed tomography (HRCT) scans in the diagnostic approach to infiltrative lung disease (ILD) with multislice computed tomography (MSCT). MATERIALS AND METHODS: Fifty consecutive patients referred for suspicion of ILD underwent MSCT (collimation: 4 mm x 1 mm; pitch: 1.75; scan time: 0.5 seconds; 80 mA per slice) of the entire thorax. Two sets of lung images were systematically reconstructed: 1-mm thick transverse computed tomography (CT) scans (i.e., HRCT scans) (group 1) and 1-mm thick coronal images (group 2). Both series of images were obtained at 10-mm intervals and reconstructed with a high-spatial frequency algorithm. Two observers independently analyzed the overall image quality, the presence and distribution of CT features of ILD, and the diagnostic value of group 1 and group 2 lung images. RESULTS: Group 1 and group 2 images were coded as interpretable, with minimal respiratory artifacts in the lower lung zones in two cases (4%). Presence of abnormal lung infiltration was found in 38 patients in group 2 with concordant interpretation of group 1 images. No significant difference was found in the identification of CT features of ILD between group 2 and group 1 (nodules: 32% vs. 30%; lines: 14% vs. 16%; increased attenuation: 24% vs. 26%; fibrosis: 48% vs. 50%; distortion: 46% vs. 50%; and abnormal interfaces: 16% in both groups). Distribution of lung abnormalities in central, peripheral, anterior, and/or posterior lung zones was similarly recognized in group 2 and group 1. In patients with extensive lung infiltration, the vertical predominance of lung changes was more precisely assessed in group 2 (n = 12) than in group 1 (n = 4). For a mean coverage of 260 mm in this study group, the mean number of sections to be interpreted was significantly lower in group 2 (19 sections) than in group 1 (28 sections) (P < 0.01). CONCLUSION: Coronal sections allow a diagnostic approach to ILD as precise as that provided with HRCT scans, based on the interpretation of a significantly reduced number of images.


Assuntos
Doenças Pulmonares Intersticiais/diagnóstico , Adulto , Idoso , Artefatos , Reações Falso-Negativas , Feminino , Humanos , Doenças Pulmonares Intersticiais/epidemiologia , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Interpretação de Imagem Radiográfica Assistida por Computador , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...