Search results for "France"

showing 10 items of 2879 documents

Whole-exome sequencing identifies the first French MODY 6 family with a new mutation in the NEUROD1 gene

2020

Abstract Aim The aim of the present study was to identify the affected gene in a French family with maturity-onset diabetes of the young (MODY) using whole-exome sequencing (WES). Methods WES was performed in one patient with MODY, and candidate variants were confirmed in members of the immediate family by Sanger sequencing. Results In the proband, a new heterozygous missense mutation (c.340A>C) was identified in the NEUROD1 gene by WES analysis and confirmed by Sanger sequencing. Additional Sanger sequencing of the proband's sister and mother revealed the same heterozygous mutation. The proband and his sister displayed typical clinical characteristics of MODY, while their mother had the sa…

AdultMaleProbandHeterozygoteEndocrinology Diabetes and Metabolism[SDV]Life Sciences [q-bio]Mutation MissenseMothers030209 endocrinology & metabolism030204 cardiovascular system & hematologyBiology03 medical and health sciencessymbols.namesake0302 clinical medicineEndocrinologyDiabetic NeuropathiesExome SequencingBasic Helix-Loop-Helix Transcription FactorsInternal MedicinemedicineHumansHypoglycemic AgentsInsulinMissense mutationDiabetic NephropathiesAge of OnsetGeneExome sequencingAgedSanger sequencingGeneticsDiabetic RetinopathySiblingsGeneral Medicinemedicine.disease[SDV] Life Sciences [q-bio]Diabetes Mellitus Type 2Mutation (genetic algorithm)symbolsFemaleFranceMODY 6NEUROD1 Gene
researchProduct

How do gastroenterologists follow patients with colorectal cancer after curative surgical resection? A three-year population-based study

2008

Summary Objectives To assess the contribution of gastroenterologists (GEs) to the surveillance of colorectal cancer after curative surgery. Patients and methods This registry-based study included 407 patients residing in two French administrative areas diagnosed with newly diagnosed colorectal cancer in 1998 and free of disease six months after curative surgery. All surveillance examinations performed either in the three years after surgery or until death or recurrence were collected retrospectively. Results One hundred nine patients (27%) had a regular clinical check-up with a GE at least once a year. Factors independently associated with GE follow-up were young age (P=0.004), use of adjuv…

AdultMaleRadiography Abdominalmedicine.medical_specialtyColorectal cancerColonoscopyDiseaseAbdomenHealth caremedicineHumansRegistriesPractice Patterns Physicians'AgedRetrospective StudiesUltrasonographyAged 80 and overmedicine.diagnostic_testbusiness.industryGeneral surgeryAge FactorsGastroenterologyCancerRetrospective cohort studyColonoscopyGeneral MedicineContinuity of Patient CareMiddle Agedmedicine.diseaseSurgeryEndoscopymedicine.anatomical_structureChemotherapy AdjuvantPopulation SurveillanceAbdomenFemaleRadiotherapy AdjuvantFranceGuideline AdherenceNeoplasm Recurrence LocalColorectal NeoplasmsbusinessGastroentérologie Clinique et Biologique
researchProduct

Liking for fat is associated with sociodemographic, psychological, lifestyle and health characteristics

2014

Sensory liking influences dietary behaviour, but little is known about specifically associated individual profiles. The aim of the present study was to investigate the associations between liking for fat-and-salt and fat-and-sweet sensations and sociodemographic, economic, psychological, lifestyle and health characteristics in a large sample. Individual characteristics and liking scores were collected by a questionnaire among 37 181 French adults. Liking scores were constructed using a validated preference questionnaire. Multinomial logistic regression models were used to assess the associations between liking levels and individual characteristics. In both sexes, subjects belonging to low-l…

AdultMaleRisklikingAdolescent[ SDV.AEN ] Life Sciences [q-bio]/Food and Nutritionhabitude alimentairesociodemographic factorsMedicine (miscellaneous)enquêteHyperphagiapsychological factorsBody Mass IndexCohort StudiesFood PreferencesYoung AdultSurveys and Questionnaires[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyfatSensationHumansObesitysantéLife StyleAgedMultinomial logistic regressionAged 80 and overInternetNutrition and DieteticssociologieCognitionMiddle AgedDietary FatssociodémographiePreferenceLarge sampleobésitéSocioeconomic FactorsFemaleObese subjectsFrancedietary determinantsPsychology[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyFollow-Up StudiesClinical psychology
researchProduct

Staphylococcus aureus Bloodstream Infection and Endocarditis―A Prospective Cohort Study

2015

Equipe CHU UB (EA) Pôle MERS CT3 Hors Enjeu The VIRSTA Study Group : Clinical centres: Besançon: Catherine Chirouze, Elodie Curlier, Cécile Descottes-Genon, Bruno Hoen, Isabelle Patry, Lucie Vettoretti. Dijon: Pascal Chavanet, Jean-Christophe Eicher, Sandrine Gohier-Treuvelot, Marie-Christine Greusard, Catherine Neuwirth, André Péchinot, Lionel Piroth. Lyon: Marie Célard, Catherine Cornu, François Delahaye, Malika Hadid, Pascale Rausch. Montpellier: Audrey Coma, Florence Galtier, Philippe Géraud, Hélène Jean-Pierre, Vincent Le Moing, Catherine Sportouch, Jacques Reynes. Nancy: Nejla Aissa, Thanh Doco- Lecompte, François Goehringer, Nathalie Keil, Lorraine Letranchant, Hepher Malela, Thierry…

AdultMaleStaphylococcus aureuslcsh:MedicineBacteremiaRisk Factors[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseasesPneumonia Staphylococcal80 and overHumansProspective StudiesHospital Mortalitylcsh:ScienceAgedAged 80 and overEndocarditislcsh:RBacterial[ SDV.SPEE ] Life Sciences [q-bio]/Santé publique et épidémiologieEndocarditis BacterialPneumoniaMiddle Aged[ SDV.MHEP.MI ] Life Sciences [q-bio]/Human health and pathology/Infectious diseases[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologieStaphylococcal[SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseaseslcsh:QFemale[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologieFranceResearch Article
researchProduct

Statement of severe trauma management in France; teachings of the FIRST study

2013

Abstract Introduction The blunt trauma victim management is still a matter of debate and comparing studies involving different emergency medical services and health care organization remains fictitious. Hence, the French Intensive care Recorded in Severe Trauma (FIRST) was conducted in order to describe the severe blunt trauma management in France. The present paper aimed at recalling the main results of FIRST study. Methods The FIRST study was based on a multicenter prospective cohort of patients aged 18 or over with severe exclusive blunt trauma requiring admission to university hospital care unit within the first 72 h and/or managed by medical-Staffed Emergency Mobile Unit (SMUR). Multip…

AdultMaleTypologyAdolescentAircraftCritical CareEndpoint DeterminationAmbulancesBlood PressureWounds NonpenetratingYoung AdultPatient AdmissionIntensive careHealth careEmergency medical servicesmedicineHumansGlasgow Coma ScaleProspective cohort studyAgedAged 80 and overbusiness.industryData CollectionAge FactorsBasic life supportGeneral MedicineMiddle Agedmedicine.diseasePatient Care ManagementAnesthesiology and Pain MedicineSevere traumaBlunt traumaAccidentsWounds and InjuriesFemaleFranceMedical emergencyTriageTomography X-Ray ComputedbusinessAnnales Françaises d'Anesthésie et de Réanimation
researchProduct

Clinical success of intrauterine insemination cycles is affected by the sperm preparation time.

2013

Objective To determine the impact of the time interval from the end of sperm preparation (TSP) to intrauterine insemination (IUI) on the outcome. Design Prospective multicentre cohort study. Setting Seven French centers (assisted reproduction group in northeastern France, four academic centers, and three clinics). Patient(s) Eight hundred sixty-two IUI cycles (709 patients) managed by gonadotropins were studied. Intervention(s) Cycles were stimulated by either FSH or hMG, and hCG was administrated when the leading follicle diameter measured >15 mm. IUIs were performed ∼36 hours after ovulation triggering. Main Outcome Measure(s) Generalized linear mixed models for binary outcomes were used …

AdultMaleendocrine systemmedicine.medical_specialtyTime FactorsPregnancy Ratemedia_common.quotation_subjectReproductive medicinelaw.inventionSpecimen HandlingSemen qualityRandomized controlled trialOvulation InductionlawPregnancyOdds RatioMedicineHumansProspective StudiesOvulationmedia_commonUnexplained infertilityInsemination Artificial HomologousGynecologyPregnancybusiness.industryAge FactorsObstetrics and GynecologyFertility Agents Femalemedicine.diseaseSpermatozoaTissue DonorsSemen AnalysisPregnancy rateFertilityTreatment OutcomeReproductive MedicineInfertilityMultivariate AnalysisLinear ModelsFemaleFrancebusinessCohort studyFertility and sterility
researchProduct

Comparative Analysis of Patients with Acute Coronary and Cerebrovascular Syndromes from the National French Hospitalization Health Care System Databa…

2010

<i>Background:</i> Nationwide evaluations of the epidemiology of acute coronary syndrome (ACS) or cerebrovascular syndrome (CVS) are scarce. We aimed to analyze nationwide French data on patients referred to hospital for either ACS or CVS. <i>Methods:</i> Using the French national hospital discharge diagnosis records, all patients hospitalized between 2005 and 2008 with a diagnosis of ACS and CVS based on the ICD-10 were identified. We analyzed vascular risk factors and early outcomes in patients with a single hospitalization for ACS or CVS or for both ACV and CVS in a 2-month time window. <i>Results:</i> 1,187,643 patients were recorded. Among these, 638…

AdultMalemedicine.medical_specialtyAcute coronary syndromePediatricsAdolescentEpidemiologyHypercholesterolemiaMyocardial Infarctionfluids and secretionsRisk FactorsInternal medicineDiabetes mellitusAtrial FibrillationEpidemiologyDiabetes MellitusmedicineHumansHospital MortalityObesityRegistriesMyocardial infarctionAcute Coronary SyndromeStrokeAgedAged 80 and overInpatientsbusiness.industryAbsolute risk reductionAtrial fibrillationMiddle Agedequipment and suppliesmedicine.diseaseStrokeCerebrovascular DisordersHypertensionMyocardial infarction complicationsFemaleFranceNeurology (clinical)businessNeuroepidemiology
researchProduct

Evaluation of the Possible Impact of a Care Network for Stroke and Transient Ischemic Attack on Rates of Recurrence

2010

We aimed to demonstrate that a stroke network is able to reduce the proportion of recurrent cerebrovascular events. In 2003, we set up a care network with the aim to reduce the proportion of stroke recurrence. For the statistical analysis, recurrent cerebrovascular events observed from 1985 to 2002 within the population of Dijon made it possible to model trends using Poisson logistic regression. From 1985 to 2002, we recorded 172 recurrent cerebrovascular events which were used to model trends before the creation of the care network. Within the period 2003–2007, we observed 162 recurrent cerebrovascular events compared with 196.7 expected cerebrovascular events with a significant standardiz…

AdultMalemedicine.medical_specialtyAdolescentCommunity NetworksYoung AdultSecondary PreventionHumansMedicineTransient (computer programming)cardiovascular diseasesChildStrokeAgedAged 80 and overbusiness.industryInfant NewbornInfantMiddle Agedmedicine.diseaseStrokeNeurologyIschemic Attack TransientChild PreschoolEmergency medicinePhysical therapyFemaleFranceNeurology (clinical)businessEuropean Neurology
researchProduct

Trends in excess mortality in follicular lymphoma at a population level

2015

Background Since the 1990s and since the development of humanised monoclonal antibodies in 1998, the treatment of non-Hodgkin lymphoma has undergone profound changes. Follicular lymphoma (FL) was the first to benefit from this treatment, and several clinical trials have shown a significant improvement in overall survival, but little information is available at a population level. Objective Our objective was to estimate changes in FL-specific mortality at a population level, with an appropriate methodology. Methods Two French retrospective population-based studies on FL were conducted, one from 1995 to 2004, in 1477 patients, and one from 1995 to 2010, in 451 patients. Trends in excess morta…

AdultMalemedicine.medical_specialtyAdolescentPopulation level[SDV]Life Sciences [q-bio]PopulationFollicular lymphomaHistory 21st CenturyYoung Adult03 medical and health sciences0302 clinical medicineInternal medicineHumansMedicineIn patientRegistriesAge of OnsetStage (cooking)educationLymphoma FollicularAgedNeoplasm StagingRetrospective StudiesAged 80 and overExcess mortalityeducation.field_of_studybusiness.industryHematologyGeneral MedicineHistory 20th CenturyMiddle Agedmedicine.disease3. Good healthLymphomaClinical trialPopulation Surveillance030220 oncology & carcinogenesisImmunologyFemaleFrancebusiness030215 immunology
researchProduct

Factors associated with GPs' knowledge of their patients' socio-economic circumstances: a multilevel analysis.

2015

A paraître; International audience; Background. To determine appropriate management for individual patients, GPs are supposed to use their knowledge of the patient's socio-economic circumstances.Objective. To analyse factors associated with GPs' knowledge of these circumstances.Methods. Observational survey of GPs who were internship supervisors in the Paris metropolitan area. Each of 52 volunteer GPs completed a self-administered questionnaire about their own characteristics and randomly selected 70 patients from their patient list. Their knowledge was analysed as the agreement between the patients' and GPs' responses to questions about the patients' socio-economic characteristics in quest…

AdultMalemedicine.medical_specialtyAttitude of Health PersonneleducationEconomicInsurance Coverage[SHS]Humanities and Social SciencesContinuing medical educationGeneral PractitionersInternshipSurveys and QuestionnairesMedicineHumansDuration (project management)Practice Patterns Physicians'AgedPhysician-Patient Relationsbusiness.industryMedical recordMultilevel modelSocial environmentMiddle Aged[SHS.ECO]Humanities and Social Sciences/Economics and Finance3. Good healthWork (electrical)Socioeconomic FactorsFamily medicineGlobal Positioning SystemMultilevel AnalysisFemaleFranceFamily PracticebusinessFamily practice
researchProduct