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showing 10 items of 7961 documents

Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure

2021

Ovarian failure (OF) is a common cause of infertility usually diagnosed as idiopathic, with genetic causes accounting for 10–25% of cases. Whole-exome sequencing (WES) may enable identifying contributing genes and variant profiles to stratify the population into subtypes of OF. This study sought to identify a blood-based gene variant profile using accumulation of rare variants to promote precision medicine in fertility preservation programs. A case–control (n = 118, n = 32, respectively) WES study was performed in which only non-synonymous rare variants &lt

0301 basic medicineInfertilityOncologygenomic taxonomymedicine.medical_specialtyprecision medicineovarian failurePopulationMedicine (miscellaneous)BiologyGenoma humàArticlewhole exome sequencing03 medical and health sciences0302 clinical medicineInternal medicinemedicinesingle nucleotide variantFertility preservationeducationGeneExome sequencingeducation.field_of_study030219 obstetrics & reproductive medicinebusiness.industryRpersonalized medicinePrecision medicinemedicine.diseaseprediction modelMinor allele frequency030104 developmental biologyGinecologiaMedicineovaryPersonalized medicineinfertilitybusinessgenome variant profileJournal of Personalized Medicine
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Co-circulation of the two influenza B lineages during 13 consecutive influenza surveillance seasons in Italy, 2004-2017

2019

AbstractBackgroundSince 1985, two antigenically distinct lineages of influenza B viruses (Victoria-like and Yamagata-like) have circulated globally. Trivalent seasonal influenza vaccines contain two circulating influenza A strains but a single B strain and thus provide limited immunity against circulating B strains of the lineage not included in the vaccine. In this study, we describe the characteristics of influenza B viruses that caused respiratory illness in the population in Italy over 13 consecutive seasons of virological surveillance, and the match between the predominant influenza B lineage and the vaccine B lineage, in each season.MethodsFrom 2004 to 2017, 26,886 laboratory-confirme…

0301 basic medicineInfluenza virological surveillance Influenza B virus Victoria lineage Yamagata lineage Vaccine matchmedicine.medical_specialtyLineage (evolution)PopulationInfluenza B viruHemagglutinin (influenza)Vaccine matchSettore MED/42 - Igiene Generale E ApplicataViruslcsh:Infectious and parasitic diseases03 medical and health sciences0302 clinical medicineMedical microbiologyImmunityRetrospective StudieInfluenza HumanmedicineHumanslcsh:RC109-216030212 general & internal medicineeducationPhylogenyRetrospective Studieseducation.field_of_studybiologyStrain (biology)Victoria lineageInfluenza B virus; Influenza virological surveillance; Italy; Vaccine match; Victoria lineage; Yamagata lineageVirologyInfluenzaInfluenza B virus030104 developmental biologyInfectious DiseasesInfluenza virological surveillanceParasitologyItalyInfluenza VaccinesInfluenza virological surveillance Influenza B virus Victoria lineage Yamagata lineage Vaccine match ItalyEpidemiological Monitoringbiology.proteinInfluenza B virus; Influenza virological surveillance; Italy; Vaccine match; Victoria lineage; Yamagata lineage; Epidemiological Monitoring; Humans; Influenza B virus; Influenza Vaccines; Influenza Human; Italy; Phylogeny; Retrospective Studies; SeasonsSeasonsInfluenza VaccineYamagata lineageResearch ArticleHuman
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Increased survival of honeybees in the laboratory after simultaneous exposure to low doses of pesticides and bacteria

2018

Recent studies of honeybees and bumblebees have examined combinatory effects of different stressors, as insect pollinators are naturally exposed to multiple stressors. At the same time the potential influences of simultaneously occurring agricultural agents on insect pollinator health remain largely unknown. Due to different farming methods, and the drift of applied agents and manure, pollinators are most probably exposed to insecticides but also bacteria from organic fertilizers at the same time. We orally exposed honeybee workers to sub-lethal doses of the insecticide thiacloprid and two strains of the bacterium Enterococcus faecalis, which can occur in manure from farming animals. Our re…

0301 basic medicineInsecticidesmehiläisetPollinationPhysiologyThiazineslcsh:MedicineInsect010501 environmental sciencesPathology and Laboratory Medicine01 natural sciencesimmune responseCALORIC RESTRICTIONbakteeritToxicologyAPIS-MELLIFERA Lchemistry.chemical_compoundEatingNeonicotinoidsPollinatorMedicine and Health Scienceslcsh:SciencePollinationtarhamehiläinenbacteriaDIETARY RESTRICTIONmedia_common2. Zero hungerMultidisciplinarybiologyVirulenceEukaryotaAgricultureBeesThiaclopridBacterial PathogensInsectsBEE HYMENOPTERA APIDAEMedical Microbiologyimmuunivaste1181 Ecology evolutionary biologyRISK-ASSESSMENTPathogensHoney BeesAgrochemicalshenkiinjääminenResearch ArticlehoneybeesArthropodamedia_common.quotation_subjectImmunologyENTEROCOCCUS-FAECALISEnterococcus FaecalisMicrobiologysurvivalNEONICOTINOID INSECTICIDES03 medical and health sciencesHormesisStress PhysiologicalAnimalsFORAGING BEHAVIORLEARNING PERFORMANCESMicrobial Pathogens0105 earth and related environmental sciencesNutritionlcsh:RHormesisOrganismsFood ConsumptionBiology and Life Sciencestorjunta-aineetpesticidesPesticidebiology.organism_classificationManureInvertebratesHymenopteraDiet030104 developmental biologychemistryDROSOPHILA-MELANOGASTERta1181lcsh:QPest ControlPhysiological ProcessesBacteriaEnterococcus
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Maternal Caloric Restriction Implemented during the Preconceptional and Pregnancy Period Alters Hypothalamic and Hippocampal Endocannabinoid Levels a…

2016

Journal Article; Exposure to inadequate nutritional conditions in critical windows of development has been associated to disturbances on metabolism and behavior in the offspring later in life. The role of the endocannabinoid system, a known regulator of energy expenditure and adaptive behaviors, in the modulation of these processes is unknown. In the present study, we investigated the impact of exposing rat dams to diet restriction (20% less calories than standard diet) during pre-gestational and gestational periods on: (a) neonatal outcomes; (b) endocannabinoid content in hypothalamus, hippocampus and olfactory bulb at birth; (c) metabolism-related parameters; and (d) behavior in adult mal…

0301 basic medicineLitter (animal)hippocampuschemistry.chemical_compoundBehavioral Neuroscience0302 clinical medicineMaternal urdernutrition:Phenomena and Processes::Metabolic Phenomena::Body Composition::Body Fat Distribution::Adiposity [Medical Subject Headings]rathypothalamus:Phenomena and Processes::Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Reproductive Physiological Processes::Reproduction::Pregnancy [Medical Subject Headings]Original Research:Psychiatry and Psychology::Behavior and Behavior Mechanisms::Adaptation Psychological [Medical Subject Headings]Endocannabinoid systemOlfactory BulbEndocannabinoidesNeuropsychology and Physiological PsychologyAdiposidadGestationmedicine.symptomRestricción calórica:Chemicals and Drugs::Lipids::Fatty Acids::Fatty Acids Unsaturated::Arachidonic Acids [Medical Subject Headings]medicine.medical_specialtyOffspringEmbarazo:Phenomena and Processes::Physiological Phenomena::Nutritional Physiological Phenomena::Diet::Energy Intake::Caloric Restriction [Medical Subject Headings]Cognitive NeuroscienceHypothalamusBiologyDevelopmentlcsh:RC321-57103 medical and health sciencesAnsiedadRatasHyppocampusInternal medicinemedicineHipocampoÁcidos araquidónicos:Anatomy::Nervous System::Central Nervous System::Brain::Limbic System::Hippocampus [Medical Subject Headings]endocannabinoids:Psychiatry and Psychology::Behavior and Behavior Mechanisms::Emotions::Anxiety [Medical Subject Headings]lcsh:Neurosciences. Biological psychiatry. NeuropsychiatrydevelopmentPregnancyPalmitoylethanolamideBehavior:Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Molecular Mechanisms of Pharmacological Action::Neurotransmitter Agents::Endocannabinoids [Medical Subject Headings]behaviorMetabolismo Energético:Phenomena and Processes::Metabolic Phenomena::Metabolism::Energy Metabolism [Medical Subject Headings]maternal undernutrition:Anatomy::Nervous System::Central Nervous System::Brain::Limbic System::Hypothalamus [Medical Subject Headings]medicine.diseaseAdaptación psicológicaOlfactory bulb030104 developmental biologyEndocrinologyMetabolism:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Rodentia::Muridae::Murinae::Rats [Medical Subject Headings]chemistryRatWeight gainmetabolism030217 neurology & neurosurgeryHipotálamoEndocannabinoidsNeuroscienceFrontiers in Behavioral Neuroscience
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Pharmacological modulation of protein kinases as a new approach to treat addiction to cocaine and opiates.

2016

Drug addiction shares brain mechanisms and molecular substrates with learning and memory processes, such as the stimulation of glutamate receptors and their downstream signalling pathways. In the present work we provide an up-to-date review of studies that have demonstrated the implication of the main memory-related calcium-dependent protein kinases in opiate and cocaine addiction. The effects of these drugs of abuse in different animal models of drug reward, dependence and addiction are altered by manipulation of the mitogen-activated protein kinase (MAPK) family, particularly extracellular signal regulated kinase (ERK), calcium/calmodulin-dependent kinase II (CaMKII), the protein kinase C…

0301 basic medicineMAPK/ERK pathwaymedia_common.quotation_subjectIntracellular SpacePharmacology03 medical and health sciencesCocaine-Related Disorders0302 clinical medicineCa2+/calmodulin-dependent protein kinaseMedicineAnimalsHumansProtein kinase AProtein kinase Cmedia_commonPharmacologybusiness.industryKinaseAddictionCyclin-dependent kinase 5Opioid-Related Disorders030104 developmental biologybusinesscGMP-dependent protein kinaseProtein Kinases030217 neurology & neurosurgeryEuropean journal of pharmacology
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AMPK phosphorylation modulates pain by activation of NLRP3 inflammasome

2016

et al.

0301 basic medicineMESH : Carrier Proteins/geneticsMaleMESH: Fibromyalgia/geneticsFibromyalgiaIndolesPhysiologyInflammasomesClinical BiochemistryInterleukin-1betaInjuryAMP-Activated Protein KinasesNeuropathic painBiochemistryPyrin domainMice0302 clinical medicineAMP-activated protein kinaseRestrictionSunitinibDiseasePhosphorylationGeneral Environmental Sciencebiologyintegumentary systemChemistryInterleukin-18InflammasomePain Perception[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism[ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismMiddle AgedMetforminCell biologyOriginal Research CommunicationsMESH : Fibromyalgia/geneticsHyperalgesiaPhosphorylationFemalemedicine.symptommedicine.drugMESH : Inflammasomes/metabolismAdultmedicine.medical_specialtyPain03 medical and health sciencesMESH: Carrier Proteins/geneticsInternal medicineNLR Family Pyrin Domain-Containing 3 ProteinmedicineAnimalsHumans[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyPyrrolesProtein kinase AMolecular Biology[ SDV.BBM ] Life Sciences [q-bio]/Biochemistry Molecular BiologyMESH: Inflammasomes/metabolismFibromialgia patientsAMPK ; fibromyalgia ; NLRP3 InflammasomeDangerAMPKCell BiologyAdenosineMESH: AMP-Activated Protein Kinases/genetics030104 developmental biologyEndocrinologyMetabolismProtein-Kinase AMPKbiology.proteinGeneral Earth and Planetary SciencesMESH : AMP-Activated Protein Kinases/geneticsAnalgesiaCarrier Proteins030217 neurology & neurosurgery
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Sulfur amino acid restriction, energy metabolism and obesity

2021

Abstract Background Dietary sulfur amino acid (SAA) restriction is an established animal model for increasing lifespan and improving metabolic health. Data from human studies are limited. In the study outlined in this protocol, we will evaluate if dietary SAA restriction can reduce body weight and improve resting energy expenditure (REE) and parameters related to metabolic health. Method/design Men and women (calculated sample size = 60), aged 18–45 years, with body mass index of 27–35 kg/m2 will be included in a double-blind 8-week dietary intervention study. The participants will be randomized in a 1:1 manner to a diet with either low or high SAA. Both groups will receive an equal base di…

0301 basic medicineMaleAdipose tissuePhysiologyUrineOverweightMETHIONINE RESTRICTIONchemistry.chemical_compound0302 clinical medicineProtocolMedicine030212 general & internal medicineAmino AcidsRandomized Controlled Trials as TopicRISKPLASMARGeneral MedicineMiddle AgedAmino Acids SulfurADIPOSE-TISSUEVDP::Medisinske Fag: 700::Helsefag: 800Body CompositionCYSTEINEMedicineFemaleLIFE-STYLEmedicine.symptomAdultAdolescentMetabolic healthAdipose tissueSulfur amino acidsGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesYoung AdultHumansResting energy expenditureObesityPlasma biomarkersMethioninebusiness.industryRepeated measures designTranslational researchmedicine.diseaseObesityPREVENTIONDietary intervention030104 developmental biologychemistryCysteine restrictionGene expressionbusinessEnergy MetabolismBody mass indexJournal of Translational Medicine
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Galectin-3 is a marker of favorable prognosis and a biologically relevant molecule in neuroblastic tumors

2014

Childhood neuroblastic tumors are characterized by heterogeneous clinical courses, ranging from benign ganglioneuroma (GN) to highly lethal neuroblastoma (NB). Although a refined prognostic evaluation and risk stratification of each tumor patient is becoming increasingly essential to personalize treatment options, currently only few biomolecular markers (essentially MYCN amplification, chromosome 11q status and DNA ploidy) are validated for this purpose in neuroblastic tumors. Here we report that Galectin-3 (Gal-3), a β-galactoside-binding lectin involved in multiple biological functions that has already acquired diagnostic relevance in specific clinical settings, is variably expressed in m…

0301 basic medicineMaleCancer ResearchPathologyTime FactorsCellular differentiationGalectin 3ApoptosisPredictive Value of TestKaplan-Meier EstimateNeuroblastoma0302 clinical medicineRisk FactorsChildGanglioneuroblastomaGanglioneuroblastomaCell DifferentiationBlood ProteinsNeuroblastic TumorPhenotypeImmunohistochemistry3. Good healthGalectin-3030220 oncology & carcinogenesisChild PreschoolImmunohistochemistryOriginal ArticleFemaleHumanmedicine.medical_specialtyAdolescentTime FactorSchwannian stromaGalectinsImmunologyBiologyTransfectionNeural cell differentiationschwannian stroma; neuroblastoma prognostic factor; neural cell differentiation; neuroblastoma03 medical and health sciencesCellular and Molecular NeurosciencePredictive Value of TestsNeuroblastomaCell Line TumormedicineBiomarkers TumorCell AdhesionHumansGanglioneuromaNeuroblastoma prognostic factorCell ProliferationNeoplasm StagingRisk FactorInfant NewbornApoptosiInfantGanglioneuromaCell Biologymedicine.disease030104 developmental biologyCancer research
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Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia

2019

Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562–3468). We observed a genome-wide significant effect (p < 1 × 10…

0301 basic medicineMaleCandidate geneMultifactorial InheritanceImaging geneticsQH301 BiologyLANGUAGEGenome-wide association study3124 Neurology and psychiatryCANDIDATE GENESDyslexiaCohort StudiesREADING-DISABILITYMOLECULAR-GENETICS0302 clinical medicineCognitionAUTOMATIZED NAMING RANChildSUSCEPTIBILITY LOCUSRapid automatized namingR2CSHORT-TERM-MEMORY~DC~IMAGING-GENETICSRJ Pediatrics[SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive SciencesPsychiatry and Mental healthDyslexia/geneticsAnxietyFemalemedicine.symptomBDCRC0321 Neuroscience. Biological psychiatry. NeuropsychiatryClinical psychologyNeuroinformaticsAdultReading disabilityAdolescentGenotypeRJPolymorphism Single NucleotideArticlelcsh:RC321-571ENVIRONMENTAL-INFLUENCES03 medical and health sciencesCellular and Molecular NeuroscienceQH301Young AdultmedicinedysleksiaHumansGenetic Predisposition to Diseaselcsh:Neurosciences. Biological psychiatry. NeuropsychiatryBiological Psychiatrygeenitbusiness.industryDyslexiaDASmedicine.diseaseComorbiditypredictors030104 developmental biology[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsRC0321DEVELOPMENTAL DYSLEXIAbusiness030217 neurology & neurosurgeryGenome-Wide Association Study
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Performance of a rapid diagnostic test for the detection of Cryptosporidium spp. in African children admitted to hospital with diarrhea

2020

Background Cryptosporidium is a protozoan parasite that causes mild to severe diarrhoeal disease in humans. To date, several commercial companies have developed rapid immunoassays for the detection of Cryptosporidium infection. However, the challenge is to identify an accurate, simple and rapid diagnostic tool for the estimation of cryptosporidiosis burden. This study aims at evaluating the accuracy of CerTest Crypto, a commercialized rapid diagnostic test (RDT) for the detection of Cryptosporidium antigens in the stool of children presenting with diarrhoea. Methods A cross-sectional study was conducted in four study sites in Sub-Saharan Africa (Gabon, Ghana, Madagascar, and Tanzania), from…

0301 basic medicineMaleCryptosporidium infectionCross-sectional studyRC955-962CryptosporidiosisArtificial Gene Amplification and ExtensionPathology and Laboratory MedicinePolymerase Chain ReactionENTAMOEBA-HISTOLYTICAGeographical LocationsFeces0302 clinical medicineArctic medicine. Tropical medicineMedicine and Health SciencesMedicineProtozoansRapid diagnostic testbiologyEukaryotaCryptosporidiumDiarrheaInfectious DiseasesCryptosporidium parvumChild PreschoolGIARDIA-LAMBLIAFemalemedicine.symptomPublic aspects of medicineRA1-1270BURDENPolymorphism Restriction Fragment LengthResearch ArticleDiarrheamedicine.medical_specialty030231 tropical medicineANTIGENCryptosporidiumGastroenterology and HepatologyResearch and Analysis MethodsSensitivity and Specificity03 medical and health sciencesSigns and SymptomsDiagnostic MedicineOOCYSTSInternal medicineparasitic diseasesParasitic DiseasesHumansGabonMolecular Biology TechniquesMolecular BiologyAfrica South of the Saharabusiness.industryPublic Health Environmental and Occupational HealthOrganismsCryptosporidium ParvumBiology and Life SciencesInfantGold standard (test)biology.organism_classificationmedicine.diseaseConfidence intervalParasitic Protozoans030104 developmental biologyCross-Sectional StudiesFECAL SAMPLESPeople and PlacesAfricabusiness
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