0000000000389837

AUTHOR

Weiss L

showing 2 related works from this author

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

2013

International audience; BACKGROUND:The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.METHODS:Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.Arg117His and a second CFTR mutation referred for symptoms or family history, by all French molecular genetics laboratories, referring physicians, CF care centres and infertility clinics.RESULTS:97% of the patients had the intronic T7 normal variant in cis with p.Arg117His. 89% patients were male, wit…

InfertilityMalemedicine.medical_specialtyHeterozygoteCystic FibrosisOffspring[SDV]Life Sciences [q-bio]Cystic Fibrosis Transmembrane Conductance RegulatorGene mutationCompound heterozygosityAsymptomaticCystic fibrosis03 medical and health sciences0302 clinical medicineVas DeferensMale Urogenital DiseasesMutation RateInternal medicinePrenatal DiagnosisGenotypeGeneticsmedicineHumansFamily historyChildSweatGenetics (clinical)Infertility Male030304 developmental biology0303 health sciencesbusiness.industryInfant NewbornInfantmedicine.disease3. Good healthPhenotype030228 respiratory systemChild PreschoolImmunologyMutationFemalemedicine.symptombusiness
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Variable impact on mortality of AIDS-defining events diagnosed during combination antiretroviral therapy : not all AIDS-defining conditions are creat…

2009

Contains fulltext : 80963.pdf (Publisher’s version ) (Open Access) BACKGROUND: The extent to which mortality differs following individual acquired immunodeficiency syndrome (AIDS)-defining events (ADEs) has not been assessed among patients initiating combination antiretroviral therapy. METHODS: We analyzed data from 31,620 patients with no prior ADEs who started combination antiretroviral therapy. Cox proportional hazards models were used to estimate mortality hazard ratios for each ADE that occurred in >50 patients, after stratification by cohort and adjustment for sex, HIV transmission group, number of antiretroviral drugs initiated, regimen, age, date of starting combination antiretrovir…

MaleInfectious diseases and international health [NCEBP 13]Lymphoma030312 virologyEsophageal candidiasisCohort Studies0302 clinical medicineInterquartile range030212 general & internal medicineAIDS-RelatedLymphoma AIDS-Related0303 health sciencesMortality rateProgressive multifocal leukoencephalopathyHazard ratioPrognosis3. Good healthPathogenesis and modulation of inflammation [N4i 1]Infectious DiseasesCombinationDrug Therapy CombinationFemaleInfection and autoimmunity [NCMLS 1]HumanMicrobiology (medical)Adultmedicine.medical_specialtyPrognosiAnti-HIV Agentsantiretroviral therapyInfectious DiseaseArticleAIDS-Related Opportunistic Infection03 medical and health sciencesAcquired immunodeficiency syndrome (AIDS)Drug TherapyInternal medicinemedicineHumansAIDS-defining eventProportional Hazards ModelsAIDS-Related Opportunistic Infections/diagnosis/ mortality; Acquired Immunodeficiency Syndrome/complications/diagnosis/drug; therapy/ mortality; Adult; Anti-HIV Agents/ therapeutic use; Cohort Studies; Drug Therapy; Combination; Female; Humans; Lymphoma; AIDS-Related/diagnosis/mortality; Male; Prognosis; Proportional Hazards ModelsAcquired Immunodeficiency SyndromeAIDS-Related Opportunistic Infectionsbusiness.industryProportional hazards modelPoverty-related infectious diseases [N4i 3]Anti-HIV Agentmedicine.diseasemortalityConfidence intervalImmunologyProportional Hazards ModelCohort Studiebusiness
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