0000000000489582

AUTHOR

I. Lopez

showing 2 related works from this author

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

2012

OBJECTIVE: To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP). METHODS: Homozygosity mapping of a patient with isolated RP was followed by BBS1 sequence analysis. We performed restriction fragment length polymorphism analysis of the p.M390R allele in 2007 patients with isolated RP or autosomal recessive RP and in 1824 ethnically matched controls. Patients with 2 BBS1 variants underwent extensive clinical and ophthalmologic assessment. RESULTS: In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carrie…

ProbandMaleBBS1Genetics and epigenetic pathways of disease [NCMLS 6]DNA Mutational AnalysisEvaluation of complex medical interventions Genomic disorders and inherited multi-system disorders [NCEBP 2]GenotypeEthnicityPrevalenceIsraelGeneticseducation.field_of_studyRetinitis Pigmentosa/diagnosisMiddle AgedDisease gene identificationPedigreeEuropePhenotypeFemaleMicrotubule-Associated ProteinsRetinitis PigmentosaAdultcongenital hereditary and neonatal diseases and abnormalitiesCanadaPopulationCanada/epidemiologyMicroscopy AcousticMutation MissenseEthnic GroupsDNA/geneticsBiologyEurope/epidemiologyGenomic disorders and inherited multi-system disorders [IGMD 3]Bardet-Biedl Syndrome/diagnosisBardet–Biedl syndromeRetinitis pigmentosamedicineElectroretinographyHumansAlleleeducationBardet-Biedl SyndromeIsrael/epidemiologyAllelesDNAMicrotubule-Associated Proteins/geneticsmedicine.diseaseOphthalmoscopyOphthalmologyGenetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]
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Human Immunodeficiency Virus Continuum of Care in 11 European Union Countries at the End of 2016 Overall and by Key Population: Have We Made Progress?

2020

Abstract Background High uptake of antiretroviral treatment (ART) is essential to reduce human immunodeficiency virus (HIV) transmission and related mortality; however, gaps in care exist. We aimed to construct the continuum of HIV care (CoC) in 2016 in 11 European Union (EU) countries, overall and by key population and sex. To estimate progress toward the Joint United Nations Programme on HIV/AIDS (UNAIDS) 90-90-90 target, we compared 2016 to 2013 estimates for the same countries, representing 73% of the population in the region. Methods A CoC with the following 4 stages was constructed: number of people living with HIV (PLHIV); proportion of PLHIV diagnosed; proportion of those diagnosed …

Male0301 basic medicinePsychological interventionHuman immunodeficiency virus (HIV)MedizinContinuum of care; Europe; HIV infection; Key population; Sex; Anti-Retroviral Agents; Continuity of Patient Care; European Union; HIV; Humans; Male; HIV InfectionsHIV InfectionsContinuum of care; Europe; HIV infection; Key population; Sexmedicine.disease_causekey population0302 clinical medicineContinuum of careHIV Infection030212 general & internal medicineMen having sex with menContinuum of caremedia_commoneducation.field_of_study[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyTransmission (medicine)Continuity of Patient CareEuropeInfectious DiseasesAcademicSubjects/MED00290Anti-Retroviral AgentsHIV infection continuum of care sex key population EuropeSexMicrobiology (medical)PopulationSocio-culturale03 medical and health sciencesAcquired immunodeficiency syndrome (AIDS)SDG 3 - Good Health and Well-beingmedicinemedia_common.cataloged_instanceHumansEuropean UnionEuropean unioneducationPandemicsHIV infection ; continuum of care ; sex ; key population ; Europebusiness.industrySARS-CoV-2COVID-19HIVmedicine.diseaseHIV infectioncontinuum of care030112 virologyMajor Articles and CommentariesKey populationAnti-Retroviral Agentbusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyDemography
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