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showing 10 items of 5003 documents

A screen for constituents of motor control and decision making in Drosophila reveals visual distance-estimation neurons

2016

AbstractClimbing over chasms larger than step size is vital to fruit flies, since foraging and mating are achieved while walking. Flies avoid futile climbing attempts by processing parallax-motion vision to estimate gap width. To identify neuronal substrates of climbing control, we screened a large collection of fly lines with temporarily inactivated neuronal populations in a novel high-throughput assay described here. The observed climbing phenotypes were classified; lines in each group are reported. Selected lines were further analysed by high-resolution video cinematography. One striking class of flies attempts to climb chasms of unsurmountable width; expression analysis guided us to C2 …

0301 basic medicineMaleFormative FeedbackDecision MakingWalkingBiologyMotor ActivityArticle03 medical and health sciencesInterneuronsddc:570Expression analysisAnimalsDrosophilaMultidisciplinarybusiness.industryDistance PerceptionOptic Lobe NonmammalianMotor controlDepolarizationbiology.organism_classificationVisual distance030104 developmental biologyDrosophila melanogasterClimbingGap widthFemaleArtificial intelligencebusinessNeurosciencehuman activities
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

2019

Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.

0301 basic medicineMaleGénétique clinique[SDV]Life Sciences [q-bio]MedizinPhysiology030105 genetics & hereditySeizures/epidemiologyEpilepsyBrain Diseases/epidemiologyX-linked inheritanceIntellectual disabilityGuanine Nucleotide Exchange FactorsProtein IsoformsMissense mutationGenetics(clinical)10. No inequalityNon-U.S. Gov'tGenetics (clinical)X-linked recessive inheritanceComputingMilieux_MISCELLANEOUSBrain DiseasesSex CharacteristicsResearch Support Non-U.S. Gov'tBrainSciences bio-médicales et agricoles3. Good healthPedigreePhenotypeintellectual disabilityFemaleBrain/growth & developmentSex characteristicsGénétique moléculaireGuanine Nucleotide Exchange Factors/geneticsEncephalopathyResearch SupportX-inactivationArticle03 medical and health sciencesSeizuresProtein Isoforms/geneticsmedicineJournal ArticleIQSEC2HumansIntellectual Disability/epidemiology[SDV.GEN]Life Sciences [q-bio]/Geneticsbusiness.industryInfant NewbornisoformsCorrectionInfantmedicine.diseaseNewbornHuman genetics030104 developmental biologyMutationepilepsyHuman medicinebusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Expression quantitative trait loci for PAX8 contributes to the prognosis of hepatocellular carcinoma

2017

Paired-box family member PAX8 encodes a transcription factor that has a role in cell differentiation and cell growth and may participate in the prognosis of hepatocellular carcinoma (HCC). By bioinformatics analysis, we identified several single nucleotide polymorphisms (SNPs) within a newly identified long non-coding RNA (lncRNA) AC016683.6 as expression quantitative trait loci (eQTLs) for PAX8. Hence, we hypothesized that PAX8eQTLs in lncRNA AC016683.6 may influence the HCC prognosis. We then performed a case-only study to assess the association between the two SNPs as well as the prognosis of HCC in 331 HBV-positive HCC patients without surgical treatment. Cox proportional hazard models …

0301 basic medicineMaleHeredityPaired BoxCancer Treatmentlcsh:MedicineBiochemistry0302 clinical medicineMathematical and Statistical TechniquesMedicine and Health Scienceslcsh:ScienceMultidisciplinaryPharmaceuticsLiver DiseasesLiver NeoplasmsMiddle AgedPrognosisNucleic acidsSurvival RateGenetic MappingOncology030220 oncology & carcinogenesisHepatocellular carcinomaPhysical SciencesRegression AnalysisFemaleLiver cancerStatistics (Mathematics)Research ArticleCarcinoma HepatocellularGenotypeQuantitative Trait LociSingle-nucleotide polymorphismVariant GenotypesGastroenterology and HepatologyResearch and Analysis MethodsCarcinomasPolymorphism Single Nucleotide03 medical and health sciencesPAX8 Transcription FactorProtein DomainsDrug TherapyDiagnostic MedicineGastrointestinal TumorsCarcinomamedicineGeneticsChemotherapyHumansGenetic Predisposition to DiseaseAlleleStatistical MethodsNon-coding RNASurvival rateSurvival analysisAllelesbusiness.industrylcsh:RCancers and NeoplasmsBiology and Life SciencesProteinsHepatocellular Carcinomamedicine.disease030104 developmental biologyExpression quantitative trait lociCancer researchLong non-coding RNAsRNAlcsh:QbusinessMathematicsPLoS ONE
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Incidence and risk factors for liver enzyme elevation among naive HIV-1-infected patients receiving ART in the ICONA cohort

2019

AbstractObjectivesTo evaluate the incidence and risk factors for liver enzyme elevations (LEE) in patients initiating first-line ART in the ICONA prospective observational cohort, between June 2009 and December 2017.Patients and methodsIn total, 6575 ART-naive patients were selected, initiating two NRTIs with the third drug being a boosted PI (n=2436; 37.0%), an NNRTI (n=2384; 36.3%) or an integrase strand transfer inhibitor (INSTI) (n=1755; 26.7%). HBV surface antigen and HCV RNA were detected in 3.9% and 5.8% of the study population. Inverse probability weighted Cox regression analysis was used to calculate the HRs, according to first-line regimen, for LEE, defined as ALT or AST increases…

0301 basic medicineMaleIntegrase inhibitorHepatitis B Surface AntigenHIV Infections0302 clinical medicineRisk Factorshivh epatitis c rna surface antigens follow-up homosexuality integrase inhibitors hepatitis b virus hepatitis b virus measurement hiv infections hepatotoxicity hepatitis c virus coinfection nucleoside reverse transcriptase inhibitors non-nucleoside reverse transcriptase inhibitors cox proportional hazards models baseline value liver enzyme raltegravirPharmacology (medical)HIV Infection030212 general & internal medicineProspective StudiesProspective cohort studyCoinfectionIncidence (epidemiology)Liver DiseaseIncidenceLiver Diseasesvirus diseasesHepatitis CMiddle AgedHepatitis CReverse Transcriptase InhibitorInfectious DiseasesCohortCoinfectionPopulation studyRegression AnalysisReverse Transcriptase InhibitorsFemalemedicine.drugHumanMicrobiology (medical)Adultmedicine.medical_specialtyAnti-HIV AgentsRegression AnalysiNO03 medical and health sciencesInternal medicinemedicineHumansHIV Integrase InhibitorsHIV Protease InhibitorPharmacologyHepatitis B Surface Antigensbusiness.industryAnti-HIV AgentHIV ARTHIV Protease Inhibitorsmedicine.diseaseRaltegravir030112 virologyHIV Integrase InhibitorProspective StudieHIV-1businessAdult Anti-HIV Agents Coinfection Female Hepatitis B Surface Antigens Hepatitis C HIV Infections HIV Integrase Inhibitors HIV Protease Inhibitors HIV-1 Humans Incidence Liver Diseases Male Middle Aged Prospective Studies Regression Analysis Reverse Transcriptase Inhibitors Risk Factors
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The significance of epidermal growth factor receptor uncommon mutations in non-small cell lung cancer: A systematic review and critical appraisal

2020

Uncommon epidermal growth factor receptor (EGFR) mutations collectively account for 10% of EGFR mutations, harboring heterogeneous molecular alterations within exons 18-21 with clinically variable responses to EGFR tyrosine kinase inhibitors (TKIs) in advanced Non-Small Cell Lung Cancer (NSCLC) patients. In addition, with the introduction of different NGS gene approach an improvement of EGFR mutations detection was reported. Today, no specific studies have prospectively evaluated uncommon sensitizing mutations in detail and no firm standard of care has been established in the first-line setting. The aim of this comprehensive review is to critically consider the clinical role of uncommon EGF…

0301 basic medicineMaleLung NeoplasmsPrognosiEGFRProtein Kinase Inhibitormedicine.disease_causeNSCLC03 medical and health sciencesExonErbB Receptors0302 clinical medicineCarcinoma Non-Small-Cell LungmedicineCarcinomaHumansRadiology Nuclear Medicine and imagingEpidermal growth factor receptorErbB ReceptorLung cancerGeneProtein Kinase InhibitorsRegulation of gene expressionMutationbiologybusiness.industryGeneral Medicinemedicine.diseasePrognosisTKIUncommon mutationErbB ReceptorsGene Expression Regulation NeoplasticLung Neoplasm030104 developmental biologyTreatment OutcomeOncology030220 oncology & carcinogenesisNGSMutationCancer researchbiology.proteinSystematic reviewFemalebusinessHuman
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Transcriptome Analysis Identifies Doublesex and Mab-3 Related Transcription Factor (DMRT3) in Nasal Polyp Epithelial Cells of Patients Suffering from…

2021

Background: Aspirin-exacerbated respiratory disease (AERD) is a syndrome characterised by chronic rhinosinusitis, nasal polyps, asthma and aspirin intolerance. An imbalance of eicosanoid metabolism with anover-production of cysteinyl leukotrienes (CysLTs) has been associated with AERD. However, the precise mechanisms underlying AERD are unknown. Objective: To establish the transcriptome of the nasal polyp airway epithelial cells derived from AERD patients to discover gene expression patterns in this disease. Methods: Nasal airway epithelial cells were isolated from 12 AERD polyps and 8 AERD non-polyp nasal mucosa samples as controls from the same subjects. Utilising the Illumina HiSeq 2500 …

0301 basic medicineMaleMucous membrane of noseBiochemistryDMRT3TranscriptomeTranscription Factors TFII0302 clinical medicinetranscriptome analysisGene expressionMedicineNasal polypsRNA-SeqEicosanoid metabolismAnti-Inflammatory Agents Non-SteroidalMiddle AgedImmunohistochemistryQR1-502030220 oncology & carcinogenesisImmunohistochemistryFemalemedicine.symptomAdultLeukotrienesAspirin-exacerbated respiratory diseaseInflammationMicrobiologyArticle03 medical and health sciencesImmune systemNasal Polypsotorhinolaryngologic diseasesHumansSinusitisMolecular BiologySkin TestsAspirinbusiness.industryGene Expression Profilingnasal airwayEpithelial Cellsmedicine.diseaseRespiration Disorders030104 developmental biologyImmunologyChronic DiseaseNasal LavageAsthma Aspirin-InducedbusinessTranscriptomeBiomolecules
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Selection of the Optimal Algorithm for Real-Time Estimation of Beta Band Power during DBS Surgeries in Patients with Parkinson's Disease

2017

Deep Brain Stimulation (DBS) is a surgical procedure for the treatment of motor disorders in patients with Parkinson’s Disease (PD). DBS involves the application of controlled electrical stimuli to a given brain structure. The implantation of the electrodes for DBS is performed by a minimally invasive stereotactic surgery where neuroimaging and microelectrode recordings (MER) are used to locate the target brain structure. The Subthalamic Nucleus (STN) is often chosen for the implantation of stimulation electrodes in DBS therapy. During the surgery, an intraoperative validation is performed to locate the dorsolateral region of STN. Patients with PD reveal a high power in the β band (frequenc…

0301 basic medicineMaleParkinson's diseaseDeep brain stimulationStereotactic surgeryTime FactorsGeneral Computer ScienceArticle SubjectGeneral Mathematicsmedicine.medical_treatmentDeep Brain StimulationElectroencephalographylcsh:Computer applications to medicine. Medical informaticsSignalNeurosurgical ProceduresStatistics Nonparametriclcsh:RC321-57103 medical and health sciences0302 clinical medicineNeuroimagingSubthalamic NucleusmedicineHumansPerioperative Periodlcsh:Neurosciences. Biological psychiatry. Neuropsychiatrymedicine.diagnostic_testFourier Analysisbusiness.industryGeneral NeuroscienceSpectral density estimationElectroencephalographyParkinson DiseaseGeneral Medicinemedicine.diseasenervous system diseasesSubthalamic nucleus030104 developmental biologysurgical procedures operativenervous systemlcsh:R858-859.7FemalebusinessBeta RhythmMicroelectrodes030217 neurology & neurosurgeryAlgorithmsBiomedical engineeringResearch ArticleComputational Intelligence and Neuroscience
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Analysis of the immune microenvironment in resected non-small cell lung cancer: the prognostic value of different T lymphocyte markers

2016

[EN] The prognosis of non-small cell lung cancer (NSCLC) remains poor and heterogeneous and new biomarkers are needed. As the immune system plays a pivotal role in cancer, the study of immune-related markers may provide valuable prognostic information of NSCLC. In 122 formalin-fixed, paraffin-embedded tumor tissue samples from early-stage NSCLC, tumor and tumor-near stromal areas were microdissected and gene expression levels of conventional and regulatory T cell markers were assessed by quantitative polymerase chain reaction. Also, the presence of infiltrating CD4+, CD8+, and FOXP3+ cells in tumor samples was assessed by immunohistochemistry. The relative proportion of conventional and reg…

0301 basic medicineMalePathologyLung NeoplasmsT-LymphocytesBIOLOGIA CELULARKaplan-Meier EstimateNSCLC0302 clinical medicineT-Lymphocyte SubsetsCarcinoma Non-Small-Cell LungTumor MicroenvironmentCytotoxic T cellAged 80 and overFOXP3Forkhead Transcription FactorsMiddle AgedPrognosismedicine.anatomical_structureOncology030220 oncology & carcinogenesisCD4 AntigensFemaleAdultmedicine.medical_specialtyStromal cellRegulatory T cellCD8 Antigensimmune-biomarkerPrognostic03 medical and health sciencesImmune systemmedicineBiomarkers TumorResearch Paper: Autophagy and Cell DeathHumansImmune biomarkerTumor stromaTumor compartmentAgedTumor microenvironmentbusiness.industryVDP::Medical disciplines: 700::Clinical medical disciplines: 750::Oncology: 762tumor stromaCancermedicine.disease030104 developmental biologyImmune-biomarkerCancer researchimmunebusinessprognosticCD8
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Self-Reported Non-Celiac Wheat Sensitivity in High School Students: Demographic and Clinical Characteristics

2017

Background: Non-Celiac Wheat Sensitivity (NCWS) has recently been included among the gluten-related disorders. As no biomarkers of this disease exist, its frequency has been estimated based on self-reported symptoms, but to date no data are available about self-reported NCWS in teenagers. Aim: To explore the prevalence of self-reported NCWS in a group of high school students and to study their demographic and clinical characteristics. Methods: The study was performed between April 2015 and January 2016 in two high schools of a coastal town in the south of Sicily (Italy). A total of 555 students (mean age 17 years, 191 male, 364 female) completed a modified validated questionnaire for self-r…

0301 basic medicineMalePediatricsSettore MED/09 - Medicina InternaDiseaseWheat HypersensitivityEpidemiologyEstablished diagnosisSicilyTriticumNon-Celiac Wheat Sensitivityeducation.field_of_studyNutrition and DieteticsteenagersValidated questionnaireSelf-Reported; Non-Celiac Wheat Sensitivity; High School Students; Demographic Characteristics; Clinical Characteristicsself-reported non-celiac wheat sensitivity; non-celiac gluten-sensitivity; epidemiology; prevalence; teenagers; IBS; food allergyFemaleepidemiologyNon-celiac gluten sensitivitylcsh:Nutrition. Foods and food supplymedicine.medical_specialtyAdolescentGlutensPopulationprevalencelcsh:TX341-641Article03 medical and health sciencesDiet Gluten-FreeIBSmedicineHumanseducationStudentsDemographic CharacteristicHigh School Studentfood allergy030109 nutrition & dieteticsbusiness.industryMean agemedicine.diseaseCeliac DiseaseCase-Control StudiesSelf-ReportedSelf Reportbusinessnon-celiac gluten-sensitivityClinical CharacteristicsFood Scienceself-reported non-celiac wheat sensitivityNutrients; Volume 9; Issue 7; Pages: 771
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DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression

2018

Background: DNA mismatch repair (MMR) defects are a major factor in colorectal tumorigenesis in Lynch syndrome (LS) and 15% of sporadic cases. Some adenomas from carriers of inherited MMR gene mutations have intact MMR protein expression implying other mechanisms accelerating tumorigenesis. We determined roles of DNA methylation changes and somatic mutations in cancer-associated genes as tumorigenic events in LS-associated colorectal adenomas with intact MMR. Methods: We investigated 122 archival colorectal specimens of normal mucosae, adenomas and carcinomas from 57 LS patients. MMR-deficient (MMR-D, n 49) and MMR-proficient (MMR-P, n 18) adenomas were of particular interest and were inter…

0301 basic medicineMaleResearch paperMICROSATELLITE INSTABILITYHYPOMETHYLATIONDNA mismatch repairPHENOTYPEmedicine.disease_causeEpigenesis Genetic0302 clinical medicineCOLORECTAL ADENOMASCDKN2APromoter Regions Geneticcolorectal adenomaDNA methylationLINE-1 methylationTumor suppressorGeneral MedicineMethylationMiddle AgedCANCERTUMORSLynch syndromeDNA-metylaatio3. Good healthDEFICIENCY030220 oncology & carcinogenesisDNA methylationsyöpätauditFemaleColorectal adenomaAdultcongenital hereditary and neonatal diseases and abnormalitiesAdenomatumor suppressorsuolistosyövätColorectal adenomaBiologycomplex mixturesGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesBRAF MUTATIONmedicineHumansLynchin oireyhtymäAgedTumor Suppressor ProteinsMicrosatellite instabilityDNAUNE-1 methylationta3122medicine.diseaseGENEColorectal Neoplasms Hereditary Nonpolyposisdigestive system diseasestumorigenesisCOPY NUMBER030104 developmental biologyLynch syndromeLong Interspersed Nucleotide Elements3121 General medicine internal medicine and other clinical medicineMutationTumorigenesisCancer research3111 BiomedicineTumotigenesismutationCarcinogenesisEBioMedicine
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