Search results for "clinical management"

showing 6 items of 6 documents

Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital

2020

Abstract Background Aim of this retrospective study was to describe clinical characteristics, diagnostic work-up, management and follow-up of newborns with neural tube defects (NTDs), admitted to the Mother and Child Department of the University Hospital of Palermo, in a ten years period. Methods The medical records of 7 newborns (5 males and 2 females) admitted, over a 10-year period from January 2010 to March 2020, to our Department on the first day of life were reviewed. Analyzed data were related to familiar and/or maternal risk factors (consanguinity, maternal preexisting and/or gestational diseases, exposure to teratogen/infectious agents, lack of preconception folic acid supplement),…

MalePediatricsmedicine.medical_specialtyBirth weightNTDsPrenatal diagnosisHospitals University03 medical and health sciences0302 clinical medicineRisk FactorsEpidemiologyHumansMedicineNeural Tube Defects030212 general & internal medicineSpina bifidaRetrospective StudiesClinical managementbusiness.industrySpina bifidaResearchPreventionMedical recordlcsh:RJ1-570Infant NewbornGestational agelcsh:PediatricsRetrospective cohort studyNewbornmedicine.diseaseNeurodevelopmental follow-upTreatment OutcomeItalyGestationFemalebusiness030217 neurology & neurosurgeryItalian Journal of Pediatrics
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Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome

2022

ObjectiveThe aim of this paper is to present the AutoInflammatory Disease Alliance (AIDA) international Registry dedicated to Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome, describing its design, construction, and modalities of dissemination.MethodsThis Registry is a clinical, physician-driven, population- and electronic-based instrument designed for the retrospective and prospective collection of real-life data. Data gathering is based on the Research Electronic Data Capture (REDCap) tool and is intended to obtain real-world evidence for daily patients' management. The Registry may potentially communicate with other on-line tools dedicated to VEXAS syndrome, thu…

RegistryKeywords: autoinflammatory diseases; clinical management; precision medicine; rare diseases; research; treatment.Settore MED/16 - REUMATOLOGIAresearchtreatmentprecision medicinerare diseasesrare diseaseGeneral Medicineautoinflammatory diseasestreatment.Settore MED/38 - Pediatria Generale E Specialisticaautoinflammatory diseaseVEXAS syndromeclinical managementHuman medicineKeywords: autoinflammatory diseases
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Early Osmotherapy in Severe Traumatic Brain Injury: An International Multicenter Study

2020

The optimal osmotic agent to treat intracranial hypertension in patients with severe traumatic brain injury (TBI) remains uncertain. We aimed to test whether the choice of mannitol or hypertonic saline (HTS) as early (first 96 h) osmotherapy in these patients might be associated with a difference in mortality. We retrospectively analyzed data from 2015 from 14 tertiary intensive care units (ICUs) in Australia, UK, and Europe treating severe TBI patients with intracranial pressure (ICP) monitoring and compared mortality in those who received mannitol only versus HTS only. We performed multi-variable analysis adjusting for site and illness severity (Injury Severity Score, extended IMPACT scor…

AdultMale030506 rehabilitationmedicine.medical_specialtyTraumatic brain injurymedicine.medical_treatmentosmotherapy03 medical and health sciences0302 clinical medicineOsmotherapyInternal medicineIntensive careDECOMPRESSIVE CRANIECTOMYBrain Injuries TraumaticHYPERTONIC SALINEmedicineMANAGEMENTHumansEQUIOSMOLARIntracranial pressureRetrospective StudiesSaline Solution Hypertonicbusiness.industryHead Traumatraumatic brain injuryHazard ratio3112 NeurosciencesmannitolMiddle Agedmedicine.disease3126 Surgery anesthesiology intensive care radiologyDiuretics Osmoticmortality3. Good healthHypertonic salineAdult Brain InjuryTreatment Outcome3121 General medicine internal medicine and other clinical medicineInjury Severity ScoreClinical Management of CNS InjuryDecompressive craniectomyFemaleNeurology (clinical)0305 other medical sciencebusinessCONSENSUS030217 neurology & neurosurgeryhypertonic saline
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Impact of clinical phenotypes on management and outcomes in European atrial fibrillation patients: a report from the ESC-EHRA EURObservational Resear…

2021

Abstract Background Epidemiological studies in atrial fibrillation (AF) illustrate that clinical complexity increase the risk of major adverse outcomes. We aimed to describe European AF patients’ clinical phenotypes and analyse the differential clinical course. Methods We performed a hierarchical cluster analysis based on Ward’s Method and Squared Euclidean Distance using 22 clinical binary variables, identifying the optimal number of clusters. We investigated differences in clinical management, use of healthcare resources and outcomes in a cohort of European AF patients from a Europe-wide observational registry. Results A total of 9363 were available for this analysis. We identified three …

RegistrieResearch Reportmedicine.medical_specialtyMajor adverse outcomeCardiovascular risk factorsCluster analysisRisk FactorsInternal medicineClinical phenotypeAtrial FibrillationEpidemiologyHumansMedicineRegistriesCluster analysiAtrial fibrillation; Clinical management; Clinical phenotypes; Cluster analysis; Major adverse outcomes; Humans; Phenotype; Registries; Research Report; Risk Factors; Atrial FibrillationClinical managementbusiness.industryProportional hazards modelRisk FactorHazard ratioRAtrial fibrillationClinical phenotypesMajor adverse outcomesGeneral Medicinemedicine.diseaseAtrial fibrillationConfidence intervalPhenotypeCohortMedicineObservational studybusinessResearch ArticleHumanBMC Medicine
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Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance

2021

Regular colonoscopy even with short intervals does not prevent all colorectal cancers (CRC) in Lynch syndrome (LS). In the present study, we asked whether cancers detected under regular colonoscopy surveillance (incident cancers) are phenotypically different from cancers detected at first colonoscopy (prevalent cancers). We analyzed clinical, histological, immunological and mutational characteristics, including panel sequencing and high-throughput coding microsatellite (cMS) analysis, in 28 incident and 67 prevalent LS CRCs (n total = 95). Incident cancers presented with lower UICC and T stage compared to prevalent cancers (p &lt

OncologyColorectal cancerColonoscopybiomarkkeritHEREDITARYGUIDELINESTp53 mutationmedicine.disease_causeMolecular level0302 clinical medicineRISKincident cancercancer preventionmedicine.diagnostic_testRGeneral MedicineTUMORSLynch syndrome3. Good healthsyöpäsolutCARCINOMAS030220 oncology & carcinogenesisMedicineDNA mismatch repair030211 gastroenterology & hepatologyKRAScarcinogenesiskoloskopiamedicine.medical_specialtyDATABASEcolorectal cancersuolistosyövätmikrosatelliititArticle03 medical and health sciencescolonoscopy screeningInternal medicinemutational profilingmedicineLynchin oireyhtymäPathologicalpaksusuolisyöpäCancer preventionmismatch repair deficiencybusiness.industryMicrosatellite instabilitySCREENING INTERVAL3126 Surgery anesthesiology intensive care radiologymedicine.diseasedigestive system diseasesMSH2Lynch syndromeMSH23121 General medicine internal medicine and other clinical medicineT-stageCLINICAL MANAGEMENTmicrosatellite instabilitymutaatiotbusinessJournal of Clinical Medicine
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Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch r…

2022

Abstract Objective To compare colorectal cancer (CRC) incidences in carriers of pathogenic variants of the MMR genes in the PLSD and IMRC cohorts, of which only the former included mandatory colonoscopy surveillance for all participants. Methods CRC incidences were calculated in an intervention group comprising a cohort of confirmed carriers of pathogenic or likely pathogenic variants in mismatch repair genes (path_MMR) followed prospectively by the Prospective Lynch Syndrome Database (PLSD). All had colonoscopy surveillance, with polypectomy when polyps were identified. Comparison was made with a retrospective cohort reported by the International Mismatch Repair Consortium (IMRC). This com…

koloskopiaEuropean Hereditary Tumour Group (EHTG) and the International Mismatch Repair Consortium (IMRC)Epidemiology3122 Cancersehkäisycolorectal cancerPenetrancesegregaatioläpäisevyyssuolistosyövätGUIDELINESover-diagnosisSDG 3 - Good Health and Well-beingpreventionTumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]1112 Oncology and CarcinogenesisOncology & CarcinogenesispenetranceLynchin oireyhtymäEpidemiologiaSegregation analysisOver-diagnosiGenetics (clinical)segregation analysisScience & TechnologyIncidencePreventionColonoscòpiaGERMLINE MUTATIONSColonoscopyprospectiveCARRIERSColorectal cancer3142 Public health care science environmental and occupational healthProspectiveLynch syndromeOncologyLynch SyndromeOver-diagnosisincidence/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingCLINICAL MANAGEMENTilmaantuvuusLife Sciences & Biomedicine
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