DYT1 mutation in French families with idiopathic torsion dystonia.
(9/5239)
A GAG deletion at position 946 in DYT1, one of the genes responsible for autosomal dominant idiopathic torsion dystonia (ITD), has recently been identified. We tested 24 families and six isolated cases with ITD and found 14 individuals from six French families who carried this mutation, indicating that 20% of the affected families carried the DYT1 mutation. Age at onset was always before 20 years (mean, 9+/-4 years). Interestingly, the site of onset was the upper limb in all but one patient. Dystonia was generalized in seven patients and remained focal or segmental in three patients. The absence of common haplotypes among DYT1 families suggests that at least six independent founder mutations have occurred. In addition, one Ashkenazi Jewish family carried the common haplotype described previously in Ashkenazi Jewish patients, but it was absent in the other family. Moreover, the dystonia remained focal in the latter family when compared with the usual generalized phenotype in patients with the common Ashkenazi Jewish haplotype. This indicates that there are at least two founder mutations in this population. (+info)
Evaluation of clinical case definitions of influenza: detailed investigation of patients during the 1995-1996 epidemic in France.
(10/5239)
Using clinical predictors, we evaluated clinical case definitions of influenza during the 1995-1996 outbreak in France. Thirty-five general practitioners collected virological specimens and clinical data. Predictors of influenza virus infection were selected with logistic regression models. The results varied with the influenza virus subtype: temperature of >38.2 degrees C, stiffness or myalgia, rhinorrhea, and cough were predictive of influenza A/H3N2, whereas fatigue, lacrimation or conjunctival injection, and the absence of stiffness or myalgia were predictive of influenza A/H1N1. On the basis of this analysis and data from the literature, 12 clinical case definitions were evaluated for their abilities to diagnose influenza virus infection. They were associated with positive predictive values of 27% to 40% and negative predictive values of 80% to 91%. We conclude that focused studies evaluating clinical case definitions of influenza with use of subsets of patients should accompany population-based disease surveillance for optimal estimates of the disease burden associated with influenza epidemics. (+info)
Are sex and educational level independent predictors of dementia and Alzheimer's disease? Incidence data from the PAQUID project.
(11/5239)
OBJECTIVES: To examine the age specific risk of Alzheimer's disease according to sex, and to explore the role of education in a cohort of elderly community residents aged 65 years and older. METHODS: A community based cohort of elderly people was studied longitudinally for 5 years for the development of dementia. Dementia diagnoses were made according to the DSM III R criteria and Alzheimer's disease was assessed using the NINCDS-ADRDA criteria. Among the 3675 non-demented subjects initially included in the cohort, 2881 participated in the follow up. Hazard ratios of dementia were estimated using a Cox model with delayed entry in which the time scale is the age of the subjects. RESULTS: During the 5 year follow up, 190 incident cases of dementia, including 140 cases of Alzheimer's disease were identified. The incidence rates of Alzheimer's disease were 0.8/100 person-years in men and 1.4/100 person-years in women. However, the incidence was higher in men than in women before the age of 80 and higher in women than in men after this age. A significant interaction between sex and age was found. The hazard ratio of Alzheimer's disease in women compared with men was estimated to be 0.8 at 75 years and 1.7 at 85 years. The risks of dementia and Alzheimer's disease were associated with a lower educational attainment (hazard ratio=1.8, p<0.001). The increased risk of Alzheimer's disease in women was not changed after adjustment for education. CONCLUSION: Women have a higher risk of developing dementia after the age of 80 than men. Low educational attainment is associated with a higher risk of Alzheimer's disease. However, the increased risk in women is not explained by a lower educational level. (+info)
Analysis with a combination of macrorestriction endonucleases reveals a high degree of polymorphism among Bordetella pertussis isolates in eastern France.
(12/5239)
From 1990 to 1996, routine screening for whooping cough identified 399 patients with a calmodulin-dependent adenylate cyclase-positive test result and yielded 69 Bordetella pertussis isolates. None of the patients were fully vaccinated, and most were less than 6 months old. Analysis of total DNA by pulsed-field gel electrophoresis (PFGE) after XbaI, SpeI, or DraI macrorestriction yielded 19, 15, and 5 different patterns, respectively, whereas ribotyping failed to demonstrate any strain polymorphism. Discrimination among the isolates was improved by combining the PFGE profiles. Some patterns were more frequent, but the corresponding patients were not clearly epidemiologically related. The patterns for two strains obtained during a 3-month period from patients who were neighbors differed by the length of a single DNA fragment. These data strongly suggest that one type of isolate is widely spread throughout the world and is carried by individuals other than patients who develop a true illness. (+info)
Validation of a specific quality of life questionnaire for functional digestive disorders.
(13/5239)
BACKGROUND: Dyspepsia and irritable bowel syndrome are suitable conditions for assessment of quality of life. Their similarities justify the elaboration of a single specific questionnaire for the two conditions. AIMS: To examine the process leading to the validation of the psychometric properties of the functional digestive disorders quality of life questionnaire (FDDQL). METHODS: Initially, the questionnaire was given to 154 patients, to assess its acceptability and reproducibility, analyse its content, and reduce the number of items. Its responsiveness was tested during two therapeutic trials which included 428 patients. The questionnaire has been translated into French, English, and German. The psychometric validation study was conducted in France, United Kingdom, and Germany by 187 practitioners. A total of 401 patients with dyspepsia or irritable bowel syndrome, defined by the Rome criteria, filled in the FDDQL and generic SF-36 questionnaires. RESULTS: The structure of the FDDQL scales was checked by factorial analysis. Its reliability was expressed by a Cronbach's alpha coefficient of 0.94. Assessment of its discriminant validity showed that the more severe the functional digestive disorders, the more impaired the quality of life (p<0.05). Concurrent validity was supported by the correlation found between the FDDQL and SF-36 questionnaire scales. The final version of the questionnaire contains 43 items belonging to eight domains. CONCLUSIONS: The properties of the FDDQL questionnaire, available in French, English, and German, make it appropriate for use in clinical trials designed to evaluate its responsiveness to treatment among patients with dyspepsia and irritable bowel syndrome. (+info)
Psychosocial impact of genetic testing in familial medullary-thyroid carcinoma: a multicentric pilot-evaluation.
(14/5239)
BACKGROUND: Many crucial problems are associated with the diagnosis of inherited cancer susceptibility. One of the most important is related to the psychosocial consequences of the knowledge by the patients and their relatives of their own genetical status. Little data are available in the literature, mainly from studies including small numbers of selected and motivated patients. PATIENTS AND METHODS: From January till December 1997, we studied the psychometric and quality of life parameters of 77 subjects followed in two French specialized centers. These subjects had been treated for either sporadic or familial or were at risk for medullary thyroid carcinoma. All patients had previously attended genetic counselling with detection of germline Ret-mutations, were informed on their own genetic risk, had good short-term prognosis and performance status and did not receive recent cancer treatment. Each patient was invited to answer two questionnaires, the hospital anxiety and depression scale (HADS) and the subjective quality of life profile (SQLP). RESULTS: We report herein the descriptive results of this study (HADS and SQLP scores and distributions) and describe the individual clinical covariates that might explain the observed differences between subgroups of individuals. Although psychometric scores appeared similar in these subgroups, quality of life scores were lower in Ret-mutation carriers. Genetically-predisposed patients were less satisfied and expressed more expectations for favourable change in their quality of life. CONCLUSION: This finding suggests a high level of frustration and latent unsatisfaction related either to the management of the genetic information given by the clinicians and its psychosocial consequences or simply to the knowledge of the genetic risk of cancer. Further studies on the individual consequences of genetic testing, information delivery and when necessary psychotherapeutic interventions, are needed to insure the quality of presymptomatic genetic testing in this field of oncology. (+info)
Incidence, clinical and etiologic features, and outcomes of advanced chronic heart failure: the EPICAL Study. Epidemiologie de l'Insuffisance Cardiaque Avancee en Lorraine.
(15/5239)
OBJECTIVES: Characterize the incidence, clinical and etiologic features and outcomes of advanced congestive heart failure. BACKGROUND: This condition is frequent, severe and costly, yet no population-based epidemiological data are available that take into account modern advances in diagnosis and therapy. METHODS: The EPICAL (Epidemiologie de l'Insuffisance Cardiaque Avancee en Lorraine) study was based on a comprehensive registration of patients with ACHF (defined as hospital admission for presence of NYHA class III or IV symptoms, radiological and/or clinical signs of pulmonary congestion and/or signs of peripheral edema, left ventricular ejection fraction <30% or a cardiothoracic ratio >60%) in patients aged 20-80 years during year 1994, in the community of the Lorraine region in France (n = 1,592,263). Average follow-up for readmission to hospital and mortality was 18 months (12-24 months). RESULTS: From 2,576 registered patients, 499 were enrolled into the study among which, 358 were new presentations. This represents a crude incidence rate of 225 per million. 46.3% had a coronary heart disease. One-year mortality rate was 35.4% and the rate of mortality and/or readmission to hospital was 81%. Patients were admitted to hospital 2.05 times per year (64% of these for worsening heart failure), spending 27.6 days per year in hospital. Twenty received a heart transplant (4%). On discharge, 74.8% were using ACE inhibitors and 49.6% digitalis. CONCLUSIONS: Mortality and hospitalization rate of advanced CHF remain very high despite recent therapeutic progress. Major therapeutic and managed-care research is required. (+info)
A critical appraisal of the quality of the management of infective endocarditis.
(16/5239)
OBJECTIVES: The purpose of this study was to assess the quality of the management of infective endocarditis. BACKGROUND: Although many guidelines on the management of infective endocarditis exist, the quality of this management has not been evaluated. METHODS: We collected data on all patients (116) hospitalized with infective endocarditis over 1 year in all hospitals in the Rhone-Alpes region (France). RESULTS: Prophylactic antibiotics were not given before infective endocarditis to 8/11 cardiac patients at risk and who underwent an at risk procedure. Among the 55 cardiac patients at risk and with fever and who consulted a physician, blood cultures were not performed before antibiotic therapy was initiated for 32 patients. In-hospital antibiotic therapy was incorrect for 23 patients. The portal of entry was not treated for 16/61 patients with an accessible portal of entry. Among the 19 patients who had severe heart failure or fever persisting more than 2 weeks in spite of antibiotic therapy and who could have undergone early surgery, surgery was delayed for five, and not performed for three. Overall, the average score was 15/20. CONCLUSIONS: More information on the management of infective endocarditis should be widely disseminated to the physicians' and the dentists' communities and to the patients at risk. (+info)