Search results for "ML"

showing 10 items of 1465 documents

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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GERMLINE PROKINETICIN RECEPTOR 2 (PROKR2) VARIANTS ASSOCIATED WITH CENTRAL HYPOGONADISM CAUSE DIFFERENTAL MODULATION OF DISTINCT INTRACELLULAR PATHWA…

2013

INTRODUCTION: Defects of prokineticin pathway affect the neuroendocrine control of reproduction, but their role in the pathogenesis of central hypogonadism remains undefined, and the functional impact of the missense PROKR2 variants has been incompletely characterized. MATERIAL AND METHODS: In a series of 246 idiopathic central hypogonadism patients, we found three novel (p.V158I, p.V334M, and p.N15TfsX30) and six already known (p.L173R, p.T260M, p.R268C, p.V274D, p.V331M, and p.H20MfsX23) germline variants in the PROKR2 gene. We evaluated the effects of seven missense alterations on two different prokineticin receptor 2 (PROKR2)-dependent pathways: inositol phosphate-Ca(2+) (Gq coupling) a…

MaleKallmann syndromeEndocrinology Diabetes and MetabolismClinical BiochemistryInositol Phosphatemedicine.disease_causeBiochemistryHypogonadotropic hypogonadismGermlineReceptors G-Protein-CoupledCohort StudiesEndocrinologySettore MED/38 - Pediatria Generale E SpecialisticaAdolescent; Adult; Child; Cohort Studies; Cyclic AMP; Female; Genetic Association Studies; Humans; Hypogonadism; Inositol Phosphates; Male; Middle Aged; Mutation Missense; Receptors G-Protein-Coupled; Receptors Peptide; Signal Transduction; Young Adult; Germ-Line MutationReceptorsCyclic AMPmutations; Kallmann syndrome; septo-optic dysplasiaMissense mutationReceptorChildMutationMiddle AgedProkineticinPeptideFemaleHumanSignal TransductionAdultmedicine.medical_specialtyReceptors PeptideAdolescentAdolescent Adult Child Cohort Studies Cyclic AMP; metabolism Female Genetic Association Studies Germ-Line Mutation Humans Hypogonadism; epidemiology/genetics Inositol Phosphates; metabolism Male Middle Aged Missense Receptors; G-Protein-Coupled; genetics Receptors; Peptide; genetics Signal Transduction; genetics Young AdultInositol PhosphatesMutation MissenseGenetic Association StudieBiologyG-Protein-CoupledYoung AdultGermline mutationInternal medicinesepto-optic dysplasiamedicineHumansGenetic Association StudiesGerm-Line MutationHypogonadismBiochemistry (medical)Kallmann syndromeProkineticin receptor 2medicine.diseasePROKR2 hypogonadism prokineticinmutationsAdolescent; Adult; Child; Cohort Studies; Cyclic AMP; Female; Genetic Association Studies; Humans; Hypogonadism; Inositol Phosphates; Male; Middle Aged; Mutation; Missense; Receptors; G-Protein-Coupled; Peptide; Signal Transduction; Young Adult; Germ-Line MutationEndocrinologyMutationCohort StudieMissense
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Partial replication of a DRD4 association in ADHD individuals using a statistically derived quantitative trait for ADHD in a family-based association…

2007

Contains fulltext : 52515.pdf (Publisher’s version ) (Closed access) BACKGROUND: Previous research found an association between single nucleotide polymorphisms (SNPs) in the promoter region of DRD4 and statistically derived phenotypes generated from attention-deficit/hyperactivity disorder (ADHD) symptoms. We sought to replicate this finding by using the same methodology in an independent sample of ADHD individuals. METHODS: Four SNPs were genotyped in and around DRD4 in 2631 individuals in 642 families. We developed a quantitative phenotype at each SNP by weighting nine inattentive and nine hyperactive-impulsive symptoms. The weights were selected to maximize the heritability at each SNP. …

MaleLinkage disequilibriumGenetics and epigenetic pathways of disease [NCMLS 6]Databases FactualMedizinNeuroinformatics [DCN 3]Severity of Illness Index0302 clinical medicinePerception and Action [DCN 1]Determinants in Health and Disease [EBP 1]ChildPromoter Regions GeneticGenetics0303 health sciencesEuropePhenotypeChild PreschoolFemalemedicine.symptomPsychologyFunctional Neurogenomics [DCN 2]medicine.medical_specialtyAdolescentSingle-nucleotide polymorphismQuantitative trait locusImpulsivityMental health [NCEBP 9]Polymorphism Single NucleotideGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesQuantitative Trait HeritableCognitive neurosciences [UMCN 3.2]Genetic modelmental disordersmedicineAttention deficit hyperactivity disorderSNPHumansGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersPsychiatryBiological Psychiatry030304 developmental biologyFamily HealthReceptors Dopamine D4Heritabilitymedicine.diseaseGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivity030217 neurology & neurosurgeryBiological psychiatry
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Population differences in the International Multi-Centre ADHD Gene Project.

2008

Contains fulltext : 71443.pdf (Publisher’s version ) (Closed access) The International Multi-Centre ADHD Gene sample consists of 674 families from eight countries (Belgium, England, Germany, Holland, Ireland, Israel, Spain, and Switzerland) ascertained from clinics for combined-type attention definity hyperactivity disorder in an offspring. 863 SNPs were successfully genotyped across 47 autosomal genes implicated in psychiatric disorders yielding a single nucleotide polymorphism (SNP) density of approximately one SNP per 2.5 kb. A global test of heterogeneity showed 269 SNPs nominally significant (expected 43). Inclusion of the Israeli population accounted for approximately 70% of these nom…

MaleLinkage disequilibriumInternationalityGenetics and epigenetic pathways of disease [NCMLS 6]EpidemiologyMedizinNeuroinformatics [DCN 3]Linkage Disequilibrium0302 clinical medicineGene FrequencyPerception and Action [DCN 1]International HapMap ProjectIsraelChildGenetics (clinical)0303 health scienceseducation.field_of_studyChromosome MappingSDG 10 - Reduced Inequalities10058 Department of Child and Adolescent PsychiatryGeographyChild Preschool/dk/atira/pure/sustainabledevelopmentgoals/reduced_inequalitiesFemaleFunctional Neurogenomics [DCN 2]Genetic Markers2716 Genetics (clinical)AdolescentPopulationSample (statistics)Single-nucleotide polymorphism610 Medicine & healthMental health [NCEBP 9]Polymorphism Single NucleotideWhite PeopleGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCognitive neurosciences [UMCN 3.2]SNPHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendalterseducationGene030304 developmental biologyGenetic VariationGenetics PopulationGenetic defects of metabolism [UMCN 5.1]HaplotypesSample size determinationAttention Deficit Disorder with Hyperactivity030217 neurology & neurosurgeryDemography2713 Epidemiology
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European consensus conference on diagnosis and treatment of germ cell cancer: a report of the second meeting of the European Germ Cell Cancer Consens…

2008

Objectives: The first consensus report presented by the European Germ Cell Cancer Consensus Group (EGCCCG) in the year 2004 has found widespread approval by many colleagues throughout the world. In November 2006, the group met a second time under the auspices of the Department of Urology of the Amsterdam Medical Center, Amsterdam, The Netherlands. Methods: Medical oncologists, urological surgeons, radiation oncologists as well as pathologists from several European countries reviewed and discussed the data that had emerged since the 2002 conference, and incorporated the new data into updated and revised guidelines. As for the first meeting, the methodology of evidence-based medicine (EBM) wa…

MaleMESH: Combined Modality TherapyBiopsyConsensus Development Conferences as Topic030232 urology & nephrologyMembrane transport and intracellular motility [NCMLS 5]MESH: Biopsy0302 clinical medicineStage I SeminomaMESH: Practice Guidelines as TopicMedicineSocieties MedicalMESH: Testicular NeoplasmsConsensus conferenceMESH: Neoplasm StagingNeoplasms Germ Cell and EmbryonalPrognosisPrimary tumorCombined Modality Therapy3. Good healthEurope030220 oncology & carcinogenesisPractice Guidelines as TopicMESH: Neoplasms Germ Cell and Embryonalmedicine.medical_specialty[SDV.OT]Life Sciences [q-bio]/Other [q-bio.OT]ConsensusUrologyMESH: Societies MedicalMEDLINEMESH: Prognosis03 medical and health sciencesSDG 3 - Good Health and Well-beingTesticular NeoplasmsInterventional oncology [UMCN 1.5]HumansMESH: ConsensusTesticular cancerNeoplasm StagingGynecologyMESH: Humansbusiness.industryMESH: Consensus Development Conferences as Topicmedicine.diseaseMESH: MaleClinical trialGerm cell cancerFamily medicineGerm cell tumorsMESH: EuropebusinessEuropean Urology
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Escherichia coli of human and avian origin: detection of clonal groups associated with fluoroquinolone and multidrug resistance in Italy

2012

Objectives: Poultry have been suggested as a reservoir for fluoroquinolone-resistant extraintestinal pathogenic Escherichia coli (ExPEC). Our aim was to investigate whether genotypes associated with ciprofloxacin and multidrug resistance were shared among human and avian E. coli. Methods: We compared 277 human ExPEC isolates from urinary tract infection (UTI) and sepsis (142 susceptible and 135 ciprofloxacin resistant) and 101 avian isolates (68 susceptible and 33 ciprofloxacin resistant) by antimicrobial resistance phenotype, phylogenetic group and multilocus sequence type (ST). Results: Most ciprofloxacin-resistant isolates from both human and avian sources were multidrug resistant. Human…

MaleMicrobiology (medical)TurkeysSettore MED/07 - Microbiologia E Microbiologia ClinicaAdolescentGenotypeBiologymedicine.disease_causeGroup AMicrobiologyAntibiotic resistanceDrug Resistance Multiple BacterialSepsisGenotypeEscherichia colimedicineAnimalsCluster AnalysisHumansPharmacology (medical)zoonosis urinary tract infections MLST molecular epidemiologyChildEscherichia coliEscherichia coli InfectionsPoultry DiseasesPharmacologyExtraintestinal Pathogenic Escherichia coliPhylogenetic treeInfantVirologyDrug Resistance MultipleAnti-Bacterial AgentsCiprofloxacinMultiple drug resistanceInfectious DiseasesItalyChild PreschoolUrinary Tract InfectionsFemaleChickensFluoroquinolonesMultilocus Sequence Typingmedicine.drug
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Results of a HOVON/SAKK donor versus no-donor analysis of myeloablative HLA-identical sibling stem cell transplantation in first remission acute myel…

2007

Abstract The Dutch-Belgian Hemato-Oncology Cooperative Group and the Swiss Group for Clinical Cancer Research (HOVON-SAKK) collaborative study group evaluated outcome of patients (pts) with acute myeloid leukemia (AML) in first remission (CR1) entered in 3 consecutive studies according to a donor versus no-donor comparison. Between 1987 and 2004, 2287 pts were entered in these studies of whom 1032 pts (45%) without FAB M3 or t(15;17) were in CR1 after 2 cycles of chemotherapy, received consolidation treatment, and were younger than 55 years of age and therefore eligible for allogeneic hematopoietic stem cell transplantation (allo-SCT). An HLA-identical sibling donor was available for 326 pt…

MaleMyeloidTransplantation Conditioningmedicine.medical_treatmentHematopoietic stem cell transplantationBiochemistryGastroenterologyRecurrenceRisk FactorsUNRELATED DONORSLiving DonorsMedicineTOTAL-BODYACUTE MYELOGENOUS LEUKEMIAHistocompatibility TestingAge FactorsHematopoietic Stem Cell TransplantationMyeloid leukemiaHematologyCOLONY-STIMULATING FACTORMiddle AgedChemotherapy regimenSurvival RateLeukemiaLeukemia Myeloid Acutemedicine.anatomical_structureFemalePOSTREMISSION THERAPYAdultmedicine.medical_specialtyAcute myeloblastic leukemiaAdolescentImmunologymacromolecular substancesDisease-Free SurvivalMeta-Analysis as TopicInternal medicineotorhinolaryngologic diseasesHumansTransplantation HomologousSurvival rateRetrospective StudiesEUROPEAN GROUPbusiness.industryACUTE MYELOBLASTIC-LEUKEMIACell Biologymedicine.diseaseBONE-MARROW-TRANSPLANTATIONINTENSIVE CHEMOTHERAPYSurgeryTransplantationAML-10 TRIALbusinessFollow-Up StudiesBlood
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Cotransmission of conduct problems with attention-deficit/hyperactivity disorder: familial evidence for a distinct disorder

2008

Contains fulltext : 69215.pdf (Publisher’s version ) (Closed access) Common disorders of childhood and adolescence are attention-deficit/hyperactivity disorder (ADHD), oppositional defiant disorder (ODD) and conduct disorder (CD). For one to two cases in three diagnosed with ADHD the disorders may be comorbid. However, whether comorbid conduct problems (CP) represents a separate disorder or a severe form of ADHD remains controversial. We investigated familial recurrence patterns of the pure or comorbid condition in families with at least two children and one definite case of DSM-IV ADHDct (combined-type) as part of the International Multicentre ADHD Genetics Study (IMAGE). Using case diagno…

MaleNeurologyPsychometricsGenetics and epigenetic pathways of disease [NCMLS 6]MedizinComorbidityNeuroinformatics [DCN 3]Severity of Illness Index2738 Psychiatry and Mental Health0302 clinical medicinePerception and Action [DCN 1]ChildAge Factors10058 Department of Child and Adolescent PsychiatryPsychiatry and Mental health2728 Neurology (clinical)NeurologyConduct disorderFemalePsychology2803 Biological PsychiatryFunctional Neurogenomics [DCN 2]Clinical psychologyConduct Disordermedicine.medical_specialtyAdolescentPsychometrics610 Medicine & healthMental health [NCEBP 9]behavioral disciplines and activitiesGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCognitive neurosciences [UMCN 3.2]Severity of illnessmental disordersmedicineAttention deficit hyperactivity disorderHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersPsychiatryBiological PsychiatryFamily HealthReproducibility of Resultsmedicine.diseaseComorbidity030227 psychiatryHyperkinetic disorderGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with HyperactivityRelative risk2808 NeurologyMultivariate AnalysisNeurology (clinical)030217 neurology & neurosurgeryJournal of Neural Transmission
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Risk Profiles and Penetrance Estimations in Multiple Endocrine Neoplasia Type 2A Caused by Germline RET Mutations Located in Exon 10

2010

Multiple endocrine neoplasia type 2 is characterized by germline mutations in RET. For exon 10, comprehensive molecular and corresponding phenotypic data are scarce. The International RET Exon 10 Consortium, comprising 27 centers from 15 countries, analyzed patients with RET exon 10 mutations for clinical-risk profiles. Presentation, age-dependent penetrance, and stage at presentation of medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism were studied. A total of 340 subjects from 103 families, age 4-86, were registered. There were 21 distinct single nucleotide germline mutations located in codons 609 (45 subjects), 611 (50), 618 (94), and 620 (151). MTC was present…

MalePHEOCHROMOCYTOMAendocrine system diseasesMEDULLARY-THYROID CARCINOMAAdrenal Gland NeoplasmsMultiple Endocrine Neoplasia Type 2aPenetrancemedicine.disease_causePHENOTYPEGermlineExon0302 clinical medicinemedullary thyroid carcinomaMEN2BMEN2AChildGenetics (clinical)GeneticsAged 80 and overMutationHyperparathyroidismLife SciencesExonsMiddle AgedCARRIERSPenetranceCANCERPROPHYLACTIC THYROIDECTOMY3. Good healthgenotype-phenotypeFAMILYMEN2030220 oncology & carcinogenesisChild PreschoolFemaleAdultAdolescent030209 endocrinology & metabolismMultiple endocrine neoplasia type 2BiologyPheochromocytoma03 medical and health sciencesYoung AdultGermline mutationGeneticsmedicineHumansThyroid NeoplasmsCodonGerm-Line MutationAgedNeoplasm StagingProto-Oncogene Proteins c-retCancerHIRSCHSPRUNG-DISEASEPROTOONCOGENEmedicine.diseaseGENECarcinoma NeuroendocrineCancer researchRETHuman Mutation
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Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan.

2008

Contains fulltext : 70497.pdf (Publisher’s version ) (Closed access) Studies of gene x environment (G x E) interaction in ADHD have previously focused on known risk genes for ADHD and environmentally mediated biological risk. Here we use G x E analysis in the context of a genome-wide association scan to identify novel genes whose effects on ADHD symptoms and comorbid conduct disorder are moderated by high maternal expressed emotion (EE). SNPs (600,000) were genotyped in 958 ADHD proband-parent trios. After applying data cleaning procedures we examined 429,981 autosomal SNPs in 909 family trios. ADHD symptom severity and comorbid conduct disorder was measured using the Parental Account of Ch…

MaleParentsCandidate geneGenetics and epigenetic pathways of disease [NCMLS 6]Medizin2804 Cellular and Molecular NeuroscienceHostilityNeuroinformatics [DCN 3]2738 Psychiatry and Mental Health0302 clinical medicineGene FrequencyPerception and Action [DCN 1]Gene–environment interactionParent-Child RelationsChildGenetics (clinical)NeuregulinsbiologySLC1A1Intracellular Signaling Peptides and Proteins10058 Department of Child and Adolescent PsychiatryPsychiatry and Mental healthExpressed EmotionExcitatory Amino Acid Transporter 3Conduct disorderChild PreschoolFemalemedicine.symptomFunctional Neurogenomics [DCN 2]Clinical psychologyGenetic Markers2716 Genetics (clinical)AdolescentQuantitative Trait Loci610 Medicine & healthSingle-nucleotide polymorphismContext (language use)Mental health [NCEBP 9]Polymorphism Single NucleotideGenomic disorders and inherited multi-system disorders [IGMD 3]Interviews as Topic03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]mental disordersmedicineExpressed emotionHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAllelesProbabilityModels Geneticbusiness.industryGenome Humanmedicine.disease030227 psychiatryGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivitybiology.proteinbusiness030217 neurology & neurosurgeryGenome-Wide Association Study
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