Search results for " Cohort Studies"

showing 10 items of 130 documents

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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Validation of the 2009 TNM Version in a Large Multi-Institutional Cohort of Patients Treated for Renal Cell Carcinoma: Are Further Improvements Neede…

2010

Background: A new edition of the TNM was recently released that includes modifications for the staging system of kidney cancers. Specifically, T2 cancers were subclassified into T2a and T2b ( 10 cm), tumors with renal vein involvement or perinephric fat involvement were classified as T3a cancers, and those with adrenal involvement were classified as T4 cancers. Objective: Our aim was to validate the recently released edition of the TNM staging system for primary tumor classification in kidney cancer. Design, setting, and participants: Our multicenter retrospective study consisted of 5339 patients treated in 16 academic Italian centers. Intervention: Patients underwent either radical or part…

MaleNephrologyOncologyIMPACTmedicine.medical_treatmentValidation of the 2009 TNM version in a large multi-institutional cohort of patients treated for renal cell carcinoma: are further improvements needed?Kidney neoplasm; Nephrectomy; Renal cell carcinoma; TNM; UrologyNephrectomyTNMCohort StudiesTNM; renal cell carcinomarenal cell carcinoma; staging systemPROPOSALKidney neoplasm; Nephrectomy; Renal cell carcinoma; TNMRenal cell carcinomaPRIMARY TUMOR CLASSIFICATIONstaging systemNEPHRECTOMYRECLASSIFICATIONkidney cancerRADICAL NEPHRECTOMYMiddle AgedKidney neoplasmPrimary tumorKidney NeoplasmsNephrectomyREVISIONclassificationCohortCUTOFFKidney neoplasm; Nephrectomy; Renal cell carcinoma; TNM; Aged; Carcinoma Renal Cell; Cohort Studies; Female; Humans; Kidney Neoplasms; Male; Middle Aged; Neoplasm Staging; Retrospective StudiesFemalekidney neoplasmHumanrenal cell carcinomamedicine.medical_specialtyUrologyTNM staging systemSTRATIFICATIONInternal medicinemedicineHumansCarcinoma Renal CellAgedNeoplasm StagingRetrospective Studiesbusiness.industrykidney neoplasm; renal cell carcinoma; TNM; NEPHRECTOMYCarcinomaRenal CellRetrospective cohort studymedicine.diseaseSurgerySIZECohort StudiebusinessKidney cancerKidney diseaseEuropean Urology
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Estimated Glomerular Filtration Rate Is an Easy Predictor of Venous Thromboembolism in Cancer Patients Undergoing Platinum-Based Chemotherapy

2014

Abstract Background. Reduced estimated glomerular filtration rate (eGFR) has been associated with increased venous thromboembolism (VTE) risk in the general population. VTE incidence significantly increases in cancer patients, especially those undergoing chemotherapy. Despite the evidence that a substantial number of cancer patients have unrecognized renal impairment, as indicated by reduced eGFR in the presence of serum creatinine levels within the reference value, chemotherapy dosage is routinely adjusted for serum creatinine values. Among chemotherapies, platinum-based regimens are associated with the highest rates of VTE. A cohort study was designed to assess the value of pretreatment e…

MaleOncologyCancer ResearchSettore MED/06 - Oncologia Medicamedicine.medical_treatmentPlatinum CompoundsPlatinum-based chemotherapy; Renal impairment; Risk prediction; Risk stratification; Toxicity; Venous thromboembolism; Adult; Aged; Aged 80 and over; Antineoplastic Agents; Cohort Studies; Creatinine; Female; Glomerular Filtration Rate; Humans; Kidney; Male; Middle Aged; Neoplasms; Platinum Compounds; Venous Thromboembolism; Young Adult; Cancer Research; Oncology; Medicine (all)Platinum CompoundKidneyAntineoplastic AgentCohort Studieschemistry.chemical_compoundNeoplasmsRenal impairmentPlatinum-based chemotherapyAged 80 and overeducation.field_of_studyMedicine (all)Hazard ratioVenous ThromboembolismMiddle AgedRisk predictionOncologySymptom Management and Supportive CareCreatinineCohortFemaleHumanGlomerular Filtration RateCohort studyAdultmedicine.medical_specialtyPopulationRenal functionAntineoplastic AgentsYoung AdultInternal medicinemedicineHumanscardiovascular diseaseseducationRisk stratificationAgedChemotherapyCreatinineToxicitybusiness.industryCancerRenal impairment; Risk stratification; Venous thromboembolism; Risk prediction; Toxicity; Platinum-based chemotherapymedicine.diseaseSurgerychemistryNeoplasmCohort StudiebusinessThe Oncologist
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Clinical Significance of Rare Copy Number Variations in Epilepsy A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization

2012

Objective To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. Design Prospective cohort study. Setting Epilepsy centers in Italy. Patients Two hundred seventy-nine patients with unexplained epilepsy, 265 individuals with nonsyndromic mental retardation but no epilepsy, and 246 healthy control subjects were screened by microarray-based comparative genomic hybridization. Main Outcomes Measures Identification of copy number variations (CNVs) and gene enrichment. Results Rare CNVs occurred in 26 patients (9.3%) and 16 healthy control subjects (6.5%) (P = .26). The CNVs identified in patients were larger (P = …

MaleOncologyendocrine system diseasesMicroarrayGene DosagePreschool Cohort Studies Computational Biology Diagnostic and Statistical Manual of Mental Disorders EpilepsyBioinformaticsPolymerase Chain ReactionFluorescence Intellectual DisabilityCohort StudiesEpilepsySettore MED/38 - Pediatria Generale E SpecialisticaGene DuplicationProspective StudiesCopy-number variationAge of OnsetChildProspective cohort studyIn Situ Hybridization Fluorescenceepidemiology/genetics Nucleic Acid Hybridization Polymerase Chain Reaction Prospective Studies Young AdultGene RearrangementNucleic Acid HybridizationMiddle AgedControl subjectsMagnetic Resonance ImagingDiagnostic and Statistical Manual of Mental Disordersgenetics Female Gene Deletion Gene Dosage Gene Duplication Gene Rearrangement Genome-Wide Association Study Humans In Situ HybridizationItalyRare Copy Number Variations EpilepsyChild PreschoolFemaleepidemiology/genetics ItalyAdultmedicine.medical_specialtyAdolescentBiologyYoung AdultAdolescent Adult Age of Onset Aged Child ChildArts and Humanities (miscellaneous)Intellectual DisabilityInternal medicinemental disordersmedicineHumansIn patientClinical significanceepidemiology Magnetic Resonance Imaging Male Microarray Analysis Middle Aged Nervous System DiseaseAgedEpilepsyComputational BiologyMicroarray Analysismedicine.diseaseSettore MED/03 - Genetica MedicaNeurology (clinical)Nervous System DiseasesGene DeletionGenome-Wide Association StudyComparative genomic hybridization
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Tapentadol at medium to high doses in patients previously receiving strong opioids for the management of cancer pain.

2014

Abstract Abstract Objective: The aim of this study was to assess the efficacy and tolerability of tapentadol (TP) for a period of 4 weeks in patients who were already treated by opioids. Methods: A convenience sample of 30 patients was selected for a prospective observational cohort study. Cancer patients who were receiving at least 60 mg of oral morphine equivalents were selected. Patients discontinued their previous opioid analgesics before starting TP, in doses calculated according the previous opioid consumption (1:3.3 ratio with oral morphine equivalents). The subsequent doses were changed according to the patients' needs for a period of 4 weeks. Oral morphine was offered as a breakthr…

MalePalliative careReceptors Opioid muAdverse effectSettore MED/42 - Igiene Generale E ApplicataCohort StudiesNeoplasmsReceptorsDrug Dosage CalculationsProspective StudiesAdverse effects; Cancer pain; Palliative care; TapentadolCancer painPain MeasurementAnalgesicsMorphineMedicine (all)General MedicineMiddle AgedTapentadolAnalgesics OpioidTapentadolTreatment OutcomeItalyTolerabilityAnesthesiaPalliative careFemaleDrugDrug Monitoringmedicine.drugCohort studyAdverse effects; Cancer pain; Palliative care; Tapentadol; Aged; Analgesics Opioid; Cohort Studies; Dose-Response Relationship Drug; Drug Dosage Calculations; Drug Monitoring; Female; Humans; Italy; Karnofsky Performance Status; Male; Middle Aged; Morphine; Neoplasms; Pain Management; Pain Measurement; Phenols; Prospective Studies; Receptors Opioid mu; Treatment Outcome; Pain; Medicine (all)PainOpioidDose-Response RelationshipPhenolsmedicineHumansPain ManagementKarnofsky Performance StatusAdverse effectAgedDose-Response Relationship DrugAdverse effectsbusiness.industryCancermedicine.diseaseOpioidmubusinessCancer pain
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Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9…

2012

A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for 40% of familial amyotrophic lateral sclerosis cases of European ancestry. The aim of the current article was to describe the phenotype of amyotrophic lateral sclerosis cases carrying the expansion by providing a detailed clinical description of affected cases from representative multi-generational kindreds, and by analysing the age of onset, gender ratio and survival in a large cohort of patients with familial amyotrophic lateral sclerosis. We collected DNA and analysed phenotype data for 141 index Italian familial amyotrophic l…

MaleParentsPathologyphenotype-genotype correlationCohort Studies0302 clinical medicineC9orf72amyotrophic lateral sclerosigeneticsAmyotrophic lateral sclerosisAge of Onsetamyotrophic lateral sclerosis; familial als; C9Orf72; phenotype-genotype correlation0303 health sciencesSex CharacteristicsDNA Repeat ExpansionAdult Age of Onset Aged Amyotrophic Lateral Sclerosis; genetics/pathology Cohort Studies DNA Repeat Expansion DNA; genetics Female Humans Italy Male Middle Aged Mutation; genetics Parents Pedigree Phenotype Proteins; genetics Sex Characteristics Survival AnalysisMiddle Aged3. Good healthPedigreeSettore MED/26 - NEUROLOGIAPhenotypeItalyC9Orf72Settore MED/26 - NeurologiaFemaleFrontotemporal dementiaAdultmedicine.medical_specialtySOD1BiologyTARDBP03 medical and health sciencesInternal medicinemedicineHumans030304 developmental biologyAgedamyotrophic lateral sclerosis familial ALS C9ORF72 gene phenotype–genotype correlationC9orf72 ProteinAmyotrophic Lateral Sclerosisgenetics/pathologyProteinsOriginal ArticlesDNAmedicine.diseaseSurvival AnalysisC9orf72 ProteinSettore BIO/18 - Geneticaamyotrophic lateral sclerosis; familial ALS C9ORF72 gene; phenotype-genotype correlation;MutationNeurology (clinical)Age of onsetTrinucleotide repeat expansionfamilial al030217 neurology & neurosurgery
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Associations of rs3918242 and rs2285053 MMP-9 and MMP-2 polymorphisms with the risk, severity, and short- and long-term complications of degenerative…

2016

Abstract Background Degenerative forms of mitral valve diseases (MVDs) are very complex pathologies. Thus, it is difficult to make generalizations about the disease pathways or genetic risk factors contributing to these diseases. However, a key role of metalloproteinases (MMPs) in their pathophysiology is emerging. Thus, we performed for the first time a perspective study to assess eventual associations of some functional single nucleotide polymorphisms (SNPs) in MMP-2 and MMP-9 genes with the MVD risk, symptom severity, and short- and long-term (4.8 years) complications. Materials and methods For this purpose, 90 patients and two control groups were genotyped for rs3918242, rs243865, and r…

MalePathologyHeart Valve DiseasesDisease030204 cardiovascular system & hematologyMatrix metalloproteinasers3918242 rs243865 rs2285053 MMP-2 and MMP-9 gene SNPDegenerative forms of mitral valve diseases; Management and outcome; Metalloproteinases; rs3918242 rs243865 rs2285053 MMP-2 and MMP-9 gene SNPs; Aged; Cohort Studies; Female; Genetic Predisposition to Disease; Genotype; Heart Valve Diseases; Humans; Male; Matrix Metalloproteinase 2; Matrix Metalloproteinase 9; Middle Aged; Mitral Valve; Prospective Studies; Risk Factors; Polymorphism Single Nucleotide0403 veterinary scienceCohort Studies0302 clinical mediciners2285053 MMP-2 and MMP-9 gene SNPsRisk FactorsGenotypeManagement and outcomeNatriuretic peptideProspective StudiesProspective cohort studyMVDSMetalloproteinaseDegenerative forms of mitral valve diseases04 agricultural and veterinary sciencesGeneral MedicineSingle NucleotideMiddle AgedMetalloproteinasesPathophysiologyMatrix Metalloproteinase 9Matrix Metalloproteinase 2Mitral ValveFemalers3918242Cardiology and Cardiovascular MedicineDegenerative forms of mitral valve diseasemedicine.medical_specialtyGenotype040301 veterinary sciencesmedicine.drug_class2734Single-nucleotide polymorphismDegenerative forms of mitral valve diseases; Management and outcome; Metalloproteinases; rs3918242 rs243865 rs2285053 MMP-2 and MMP-9 gene SNPs; Cardiology and Cardiovascular Medicine; 2734Polymorphism Single NucleotidePathology and Forensic Medicine03 medical and health sciencesInternal medicinemedicineHumansGenetic Predisposition to Diseasers243865PolymorphismAgedbusiness.industrySettore MED/23 - Chirurgia Cardiacabusiness
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A possible biomarker for methadone related deaths

2017

Abstract Methadone (MTH) concentrations in those dying of MTH toxicity totally overlap concentrations where the presence of MTH is only an incidental finding, making it very difficult to make distinctions in actual cases. A biomarker, be it anatomical or biochemical for MTH toxicity is badly needed, particularly if that markers were known to disrupt effective ventilation. Because the brainstem houses the regulatory centers for cardiorespiratory-control enters, it would seem to be the most likely anatomical site to seek abnormalities in cardiorespiratory control. Objective To locate and describe the cells of nucleus of the solitary tract (TS)(NTS) in human brainstem and determine if neuronal…

MalePathologyNecrosisApoptosisAutopsyCohort Studies0302 clinical medicineRetrospective StudieMedicineForensic PathologyNeuronsPoisoningSolitary tractGeneral MedicineRostral ventrolateral medullaNecrosiImmunohistochemistryCaspase 9Narcotic030220 oncology & carcinogenesisToxicityFemaleBrainstemmedicine.symptomBrainstemCaspase-9HumanNarcoticsAdultProgrammed cell deathmedicine.medical_specialty2734Pathology and Forensic MedicineNecrosisForensic ToxicologyYoung Adult03 medical and health sciencesSettore MED/43 - Medicina LegaleSolitary NucleuSolitary NucleusNeurotoxicityHumansRetrospective Studiesbusiness.industryfungiApoptosiBiomarkerNeuronApoptosisApoptosis; Biomarker; Brainstem; Caspase-9; Methadone; Neurotoxicity; Adult; Apoptosis; Brain Stem; Caspase 9; Cohort Studies; Female; Forensic Pathology; Forensic Toxicology; Humans; Immunohistochemistry; Male; Methadone; Narcotics; Necrosis; Neurons; Poisoning; Retrospective Studies; Solitary Nucleus; Young Adult; 2734; LawCohort StudiebusinessLawMethadone030217 neurology & neurosurgeryBrain Stem
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Adherence to growth hormone (GH) therapy in naïve to treatment GH-deficient children: data of the Italian Cohort from the Easypod Connect Observation…

2019

Background: With the use of non-objective measurement, adherence to growth hormone (GH) therapy has been reported suboptimal in a large proportion of patients, and poor adherence has been shown to affect short-term growth response in patients receiving GH treatment. Objective: The Easypod™ electronic device allows objective measurement of adherence. In this study, we report 3-year prospective adherence data of the Italian cohort of naïve GH deficient (GHD) children extrapolated from the Easypod Connect Observational Study (ECOS) database. Patients and methods: Seventy-three GHD children naïve to GH treatment were included in the analysis. 22 Italian centers participated in the study. Result…

MalePediatricsDatabases FactualChildren; ECOS; GHD; Growth hormone; Short statureEndocrinology Diabetes and MetabolismChildren; ECOS; GHD; Growth hormone; Short stature;Children; ECOS; GHD; Growth hormone; Short stature; Adolescent; Child; Cohort Studies; Databases Factual; Dwarfism Pituitary; Female; Growth Disorders; Human Growth Hormone; Humans; Italy; Male; Medication Adherence; Telemedicine; Medical Records Systems Computerized; Wearable Electronic DevicesGrowth hormoneCohort Studies0302 clinical medicineEndocrinologyChildChildrenGrowth DisordersHuman Growth HormoneChildren ECOS GHD Growth hormone Short statureObjective measurementSettore MED/38TelemedicineItaly030220 oncology & carcinogenesisCohortFemaleOriginal ArticleMedical Records Systemsmedicine.symptomCohort studymedicine.medical_specialtyAdolescentMedical Records Systems ComputerizedDwarfism030209 endocrinology & metabolismShort statureMedication AdherenceDatabasesWearable Electronic Devices03 medical and health sciencesmedicineHumansIn patientDwarfism PituitaryGrowth hormoneFactualbusiness.industryComputerizedShort staturePituitaryGh treatmentECOSObservational studybusinessGHDJournal of Endocrinological Investigation
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Perfusion Index and Pulse Oximetry Screening for Congenital Heart Defects

2017

Objective To evaluate the efficacy of combined pulse oximetry (POX) and perfusion index (PI) neonatal screening for severe congenital heart defects (sCHD) and assess different impacts of screening in tertiary and nontertiary hospitals. Study design A multicenter, prospective study in 10 tertiary and 6 nontertiary maternity hospitals. A total of 42 169 asymptomatic newborns from among 50 244 neonates were screened; exclusion criteria were antenatal sCHD diagnosis, postnatal clinically suspected sCHD, and neonatal intensive care unit admission. Eligible infants underwent pre- and postductal POX and PI screening after routine discharge examination. Targeted sCHD were anatomically defined. Posi…

MalePediatricsNeonatal intensive care unit030204 cardiovascular system & hematologyPediatricsSeverity of Illness IndexHypoplastic left heart syndromeCohort StudiesTertiary Care CentersCongenital0302 clinical medicineNeonatalOximetryProspective StudiesProspective cohort studyHeart Defectsmedicine.diagnostic_testIncidenceIncidence (epidemiology)Perinatology and Child Healthcongenital heart defectsHospitalspulse oximetrycongenital heart defects; neonatal screening; perfusion index; pulse oximetry; Blood Gas Analysis; Cohort Studies; Heart Defects Congenital; Hospitals Maternity; Humans; Incidence; Infant Newborn; Intensive Care Units Neonatal; Italy; Male; Neonatal Screening; Oximetry; Oxygen Consumption; Prospective Studies; Risk Assessment; Sensitivity and Specificity; Severity of Illness Index; Tertiary Care Centers; Pediatrics Perinatology and Child HealthIntensive Care UnitsItalymedicine.symptomCohort studyHeart Defects Congenitalmedicine.medical_specialtyMaternityHospitals MaternityRisk AssessmentSensitivity and SpecificityAsymptomatic03 medical and health sciencesNeonatal ScreeningOxygen ConsumptionIntensive Care Units Neonatal030225 pediatricsSeverity of illnessmedicineHumansperfusion indexbusiness.industryInfant NewbornInfantNewbornmedicine.diseasePulse oximetryPediatrics Perinatology and Child HealthBlood Gas AnalysisbusinessThe Journal of Pediatrics
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