Search results for "TetR"

showing 10 items of 8965 documents

Holocene Selection for Variants Associated With General Cognitive Ability: Comparing Ancient and Modern Genomes

2017

Human populations living during the Holocene underwent considerable microevolutionary change. It has been theorized that the transition of Holocene populations into agrarianism and urbanization brought about culture-gene co-evolution that favored via directional selection genetic variants associated with higher general cognitive ability (GCA). To examine whether GCA might have risen during the Holocene, we compare a sample of 99 ancient Eurasian genomes (ranging from 4.56 to 1.21 kyr BP) with a sample of 503 modern European genomes (Fst= 0.013), using three different cognitive polygenic scores (130 SNP, 9 SNP and 11 SNP). Significant differences favoring the modern genomes were found for al…

0301 basic medicineMaleMultifactorial InheritanceSingle-nucleotide polymorphismBiologyGenomePolymorphism Single NucleotideEvolution Molecular03 medical and health sciences0302 clinical medicineCognitionSNPHumansAlleleSelection GeneticGenetics (clinical)Selection (genetic algorithm)HoloceneModels GeneticDirectional selectionGenome HumanObstetrics and GynecologyOdds ratio030104 developmental biologyEvolutionary biologyPediatrics Perinatology and Child HealthFemale030217 neurology & neurosurgery
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Is laterality of congenital diaphragmatic hernia a reliable prognostic factor? French national cohort study.

2020

International audience; Objectives: The objective of this study was to assess whether the laterality of congenital diaphragmatic hernia (CDH) was a prognostic factor for neonatal survival.Methods : This was a cohort study using the French national database of the Reference Center for Diaphragmatic Hernias. The principal endpoint was survival after hospitalization in intensive care.We made a comparative study between right CDH and left CDH by univariate and multivariate analysis. Terminations and stillbirths were excluded from analyses of neonatal outcomes.Results: A total of 506 CDH were included with 67 (13%) right CDH and 439 left CDH (87%). Rate of survival was 49% for right CDH and 74% …

0301 basic medicineMaleMultivariate analysisSurvival030105 genetics & heredityCohort Studies0302 clinical medicinePregnancyPrenatal DiagnosisInfant MortalityRisk of mortalityAntenatal DiagnosisLungGenetics (clinical)030219 obstetrics & reproductive medicineObstetrics and GynecologyMetaanalysisPrognosis3. Good healthLateralityCardiologyFemaleFranceCohort studyAdultmedicine.medical_specialtyPrognostic factorFetal Lung-VolumeDiaphragmatic breathingOutcomes[SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics03 medical and health sciencesIntensive careInternal medicineUltrasoundmedicineHumansMortalityLiver HerniationRetrospective Studies[SDV.GEN]Life Sciences [q-bio]/Geneticsbusiness.industry2 CitiesInfant NewbornCongenital diaphragmatic herniaInfantReproducibility of Resultsmedicine.diseasebusinessPredictionHernias Diaphragmatic CongenitalPrenatal diagnosisREFERENCES
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Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

2017

ObjectiveTo validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics.Design, setting and outcome measuresEUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks’ gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005–2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality …

0301 basic medicineMalePediatrics030105 genetics & heredityInfant DeathGlobal Burden of Disease0302 clinical medicineCongenital anomaly ; DALY ; Global Burden of Disease ; YLL ; mortality.PregnancyPrenatal DiagnosisYLLEpidemiologyInfant MortalityPrevalenceMedicineEPIDEMIOLOGY030212 general & internal medicineRegistries1506DOWN-SYNDROMEPOPULATIONeducation.field_of_studyDALYAnomaly (natural sciences)Pregnancy OutcomeObstetrics and GynecologyGestational ageGeneral MedicineStillbirthUPDATED SYSTEMATIC ANALYSISPREVALENCEEuropeFetal Mortality/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleOriginal ArticleCHILD-MORTALITYAdultCOUNTRIESmedicine.medical_specialtyPopulationGestational AgeCongenital Abnormalities03 medical and health sciencesSDG 3 - Good Health and Well-beingJournal ArticleHumansCongenital anomalyAbortion Induced/statistics & numerical data; Adult; Congenital Abnormalities/diagnosis; Congenital Abnormalities/epidemiology; Europe/epidemiology; Female; Fetal Death/prevention & control; Fetal Mortality; Gestational Age; Global Burden of Disease/methods; Global Burden of Disease/statistics & numerical data; Humans; Infant; Infant Death/prevention & control; Infant Mortality; Infant Newborn; Male; Pregnancy; Pregnancy Outcome/epidemiology; Prenatal Diagnosis/methods; Prenatal Diagnosis/statistics & numerical data; Prevalence; Registries/statistics & numerical data; Stillbirth/epidemiology; Congenital anomaly; DALY; Global Burden of Disease; YLL; mortalityeducationFetal DeathPregnancybusiness.industryInfant NewbornInfantAbortion InducedNATIONAL CAUSESmedicine.diseasemortalityTRENDSInfant mortalityChild mortalityYears of potential life lostPediatrics Perinatology and Child HealthbusinessPRIMARY PREVENTIONDemography
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Characteristics of neonatal herpes simplex virus infections in Germany: results of a 2-year prospective nationwide surveillance study.

2021

ObjectiveTo assess incidence and burden of neonatal herpes simplex virus (HSV) infections and to explore possible transmission routes.MethodsA 2-year prospective nationwide surveillance study performed in 2017 and 2018. All German paediatric departments (n=464 in 2017, n=441 in 2018) were contacted on a monthly basis to report potential cases of neonatal HSV infections. Infants with a postnatal age of ≤60 days and a positive HSV PCR or HSV culture from skin, mucous membrane, vesicles or conjunctival smear, blood or cerebrospinal fluid were included in the study.Results37 cases were analysed. 29 patients who exhibited no or only mild clinical symptoms were discharged home without organ damag…

0301 basic medicineMalePediatricsmedicine.medical_specialtymedicine.medical_treatment030106 microbiology610 Medicine & healthLiver transplantationmedicine.disease_causeMedical Records03 medical and health sciences0302 clinical medicinePregnancy030225 pediatricsGermanyEpidemiologyMedicineHumansNeonatologyProspective StudiesPregnancy Complications Infectious610 Medicine & healthbusiness.industryTransmission (medicine)Incidence (epidemiology)IncidenceInfant NewbornObstetrics and GynecologyMucous membraneInfantHerpes SimplexGeneral MedicineInfectious Disease Transmission VerticalPostnatal ageHerpes simplex virusmedicine.anatomical_structurePopulation SurveillancePediatrics Perinatology and Child HealthFemalebusiness
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Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing

2018

Purpose To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. Methods Preclinical workup included linked short tandem repeat (STR) marker selection and primer design for loci of interest. It was followed by a family haplotyping, after which an in vitro fertilization preimplantation genetic testing (IVF-PGT) cycle was carried out. A total of 62 embryos were retrieved from nine couples with a confirmed single gene disorder being transmitted in t…

0301 basic medicineMalePregnancy RateFertilization in VitroBiology03 medical and health sciencessymbols.namesake0302 clinical medicinePregnancymedicineGeneticsSingle Embryo TransferHumansGenetic TestingAlleleGenetics (clinical)Preimplantation DiagnosisGenetic testingGeneticsWhole Genome AmplificationSanger sequencingComparative Genomic Hybridization030219 obstetrics & reproductive medicinePreimplantation genetic testingSingle gene disordermedicine.diagnostic_testTripeptidyl-Peptidase 1HaplotypeMultiple displacement amplificationObstetrics and GynecologyGeneral MedicineAneuploidyHuman geneticsWhole genome amplification030104 developmental biologyBlastocystReproductive MedicineEmbryosymbolsMicrosatelliteFemaleNucleic Acid Amplification TechniquesDevelopmental BiologyJournal of Assisted Reproduction and Genetics
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International prevalence and risk factors evaluation for drug-resistant Streptococcus pneumoniae pneumonia

2019

Objective: Streptococcus pneumoniae is the most frequent bacterial pathogen isolated in subjects with Community-acquired pneumonia (CAP) worldwide. Limited data are available regarding the current global burden and risk factors associated with drug-resistant Streptococcus pneumoniae (DRSP) in CAP subjects. We assessed the multinational prevalence and risk factors for DRSP-CAP in a multinational point-prevalence study. Design: The prevalence of DRSP-CAP was assessed by identification of DRSP in blood or respiratory samples among adults hospitalized with CAP in 54 countries. Prevalence and risk factors were compared among subjects that had microbiological testing and antibiotic susceptibility…

0301 basic medicineMaleStreptococcus pneumoniaantibiotic resistanceInternationalitysputum examinationbronchiectasisvery elderlyAntibioticsPrevalenceDrug resistancemedicine.disease_causeLogistic regressionGlobal HealthCommunity-Acquired Infections/epidemiologylung lavage0302 clinical medicineCommunity-acquired pneumoniaCost of IllnessRisk FactorsPrevalencedrug resistant Streptococcus pneumoniae pneumonia030212 general & internal medicineMicrobial drug resistantAged 80 and overadultinternational cooperationdrug effectMiddle Agedinfluenza vaccinationAnti-Bacterial Agentsantiinfective agentEuropeCommunity-Acquired InfectionsHospitalizationGlobal burden of diseaseStreptococcus pneumoniaeInfectious Diseasesrisk factorbacterium identificationFemalecommunity acquired infectioninfluenzaliver diseasepneumococcal vaccinationPneumococcal infectionhospitalizationmedicine.drugMicrobiology (medical)medicine.medical_specialtyAsiamedicine.drug_class030106 microbiologySettore MED/10 - Malattie Dell'Apparato RespiratorioArticleAnti-Bacterial Agents/pharmacology03 medical and health sciencesInternal medicineStreptococcus pneumoniaeDrug Resistance BacterialPneumonia Pneumococcal/epidemiologymedicineHumanscontrolled studyhumantetracyclineHospitalization/statistics & numerical dataAgedlevofloxacinnonhumanbusiness.industrydisease associationmicrobiologycommunity acquired pneumoniamacrolidePneumoniaasthmaSouth AmericaPneumonia Pneumococcalvaccinationmedicine.diseasemajor clinical studyantibiotic sensitivitypenicillin derivativePenicillinStreptococcus pneumoniae/drug effectsPneumoniablood examinationAfricaNorth Americamicrobiological examinationbusinessGlobal burden of disease; Microbial drug resistant; Pneumococcal infection; Pneumonia
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Effect of counting chamber depth on the accuracy of lensless microscopy for the assessment of boar sperm motility.

2017

Sperm motility is one of the most significant parameters in the prediction of male fertility. Until now, both motility analysis using an optical microscope and computer-aided sperm analysis (CASA-Mot) entailed the use of counting chambers with a depth to 20 µm. Chamber depth significantly affects the intrinsic sperm movement, leading to an artificial motility pattern. For the first time, laser microscopy offers the possibility of avoiding this interference with sperm movement. The aims of the present study were to determine the different motility patterns observed in chambers with depths of 10, 20 and 100 µm using a new holographic approach and to compare the results obtained in the 20-µm c…

0301 basic medicineMaleSwineMotilityBeat (acoustics)Reproductive technologyKinematicsBiologylaw.invention03 medical and health sciences0302 clinical medicineEndocrinologyOptical microscopelawMicroscopyGeneticsImage Processing Computer-AssistedAnimalsMolecular BiologySperm motilityMicroscopy030219 obstetrics & reproductive medicineSperm CountSpermSpermatozoaSemen Analysis030104 developmental biologyReproductive MedicineSperm MotilityAnimal Science and ZoologyDevelopmental BiologyBiotechnologyBiomedical engineeringReproduction, fertility, and development
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Homocysteine concentration in coronary artery disease: Influence of three common single nucleotide polymorphisms.

2017

Whether single nucleotide polymorphisms (SNPs) of homocysteine metabolism enzymes influence the rate of cardiovascular (CV) events in coronary artery disease (CAD) patients remains controversial.In this analysis, 1126 subjects from the AtheroGene study with CAD and 332 control subjects without known CAD were included. The following SNPs were investigated: methylentetrahydrofolate reductase (MTHFR-C667T), methionin synthetase (MS-D919G), and cystathionin beta synthetase (CBS-I278T). The endpoint was the combination of cardiovascular death, stroke, and non-fatal myocardial infarction (N = 286). The median follow-up time was 6.4 years. Kaplan-Meier curve analysis showed an increasing event rat…

0301 basic medicineMaleTime FactorsHomocysteineEndocrinology Diabetes and MetabolismMyocardial InfarctionMedicine (miscellaneous)Coronary Artery DiseaseKaplan-Meier Estimate030204 cardiovascular system & hematologyReductaseGastroenterology5-Methyltetrahydrofolate-Homocysteine S-MethyltransferaseCoronary artery diseasechemistry.chemical_compound0302 clinical medicineGene FrequencyRisk FactorsMyocardial infarctionStrokeHomocysteineGeneticsNutrition and DieteticsbiologyHomozygoteMiddle AgedStrokePhenotypeArea Under CurveDisease ProgressionFemaleCardiology and Cardiovascular Medicinemedicine.medical_specialtyHeterozygoteCystathionine beta-SynthaseSingle-nucleotide polymorphismPolymorphism Single NucleotideRisk Assessment03 medical and health sciencesPredictive Value of TestsInternal medicinemedicineHumansGenetic Predisposition to DiseaseGenetic Association StudiesMethylenetetrahydrofolate Reductase (NADPH2)AgedProportional Hazards ModelsChi-Square DistributionCurve analysismedicine.disease030104 developmental biologychemistryROC CurveMethylenetetrahydrofolate reductaseCase-Control Studiesbiology.proteinBiomarkersNutrition, metabolism, and cardiovascular diseases : NMCD
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Effect of different oxidative stress degrees generated by hydrogen peroxide on motility and DNA fragmentation of zebrafish (Danio rerio) spermatozoa.

2018

An increase in reactive oxygen species (ROS) or decrease in antioxidant barriers can provoke lipid peroxidation of the membranes or DNA damage of the spermatozoa. The aim of this work is to study the effect of the different degrees of oxidative stress generated by H2 O2 incubation on total motility, kinetics, and DNA fragmentation of zebrafish (Danio rerio) spermatozoa. For this process, experimental groups were incubated in 50 µM (Low; L) and 200 µM (High; H) H2 O2 , respectively, for 20 min at 4oC. Sperm motility parameters were obtained with a computer-assisted sperm analysis (CASA) system. Sperm DNA fragmentation (SDF) was assessed using the sperm chromatin dispersion test. Both low and…

0301 basic medicineMaleendocrine systemDNA damageMotilitymedicine.disease_causeAndrologyLipid peroxidation03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEndocrinologymedicineImage Processing Computer-AssistedAnimalsSperm motilityZebrafishchemistry.chemical_classificationReactive oxygen species030219 obstetrics & reproductive medicineurogenital systemHydrogen PeroxideSpermSpermatozoaOxidative Stress030104 developmental biologychemistrySperm MotilityDNA fragmentationAnimal Science and ZoologyOxidative stressBiotechnologyDNA DamageReproduction in domestic animals = Zuchthygiene
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Limited proteolysis by acrosin affects sperm-binding and mechanical resilience of the mouse zona pellucida.

2021

Abstract The encounter of oocyte and sperm is the key event initiating embryonic development in mammals. Crucial functions of this existential interaction are determined by proteolytic enzymes, such as acrosin, carried in the sperm head acrosome, and ovastacin, stored in the oocyte cortical granules. Ovastacin is released upon fertilisation to cleave the zona pellucida, a glycoprotein matrix surrounding the oocyte. This limited proteolysis hardens the oocyte envelope, and thereby provides a definitive block against polyspermy and protects the developing embryo. On the other hand, acrosin, the renowned and most abundant acrosomal protease, has been thought to enable sperm to penetrate the oo…

0301 basic medicineMaleendocrine systemEmbryologyBiologyZona Pellucida Glycoproteins03 medical and health sciencesMice0302 clinical medicineGeneticsmedicineAnimalsAcrosomeZona pellucidaMolecular Biologyreproductive and urinary physiologyFertilisationZona PellucidaMammalsSperm-Ovum InteractionsAcrosinurogenital systemProteolytic enzymesObstetrics and GynecologyCell BiologyPolyspermyAcrosinOocyteSpermSpermatozoaCell biology030104 developmental biologymedicine.anatomical_structureReproductive Medicineembryonic structuresProteolysisAcrosome030217 neurology & neurosurgeryDevelopmental BiologyMolecular human reproduction
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