Search results for "assessment."

showing 10 items of 5004 documents

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

2019

Abstract Background Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of early infancy, and/or with dyskinetic paroxysms such as paroxysmal kinesigenic dyskinesia, paroxysmal non-kinesigenic dyskinesia, and exercise-induced dyskinesia. However, the clinical manifestations of this disorder vary widely. PRRT2 encodes a protein expressed in the central nervous system that is mainly localized in the pre-synaptic neurons and is involved in the modulation of synaptic neurotransmitter release. The anomalous functio…

0301 basic medicineMaleMicrocephalyMutation MissenseCase ReportNerve Tissue ProteinsBioinformaticsRisk AssessmentSeverity of Illness Index03 medical and health sciences0302 clinical medicineRare DiseasesSeizuresmedicineHumansGenetic Predisposition to DiseaseGenetic TestingExome sequencingGenetic Association StudiesBenign familial infantile epilepsyDysmorphic featuresbusiness.industryEpileptic encephalopathylcsh:RJ1-570InfantMembrane Proteinslcsh:PediatricsParoxysmal dyskinesiamedicine.diseaseBody Dysmorphic DisordersPrognosisPRRT2 mutationMagnetic Resonance Imaging030104 developmental biologyDyskinesiaMicrocephalymedicine.symptomPRRT2 mutation Dysmorphic features Microcephaly Epileptic encephalopathybusinessMyoclonus030217 neurology & neurosurgeryPRRT2Benign infantile epilepsy
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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.

2017

Abstract The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn infants. As a consequence, NGS may be underused with reduced diagnostic success rate, or overused, with increased costs for the healthcare system. Most genetic diseases may be already expressed during the neonatal age, but their identification may be complicated by nonspecific presentation, esp…

0301 basic medicineMaleNeonatal intensive care unitDiseaseReview030105 genetics & heredityPediatricsWhole Exome SequencingNeonateNeonatalOutcome Assessment Health CareDiagnosisPolicy MakingExome sequencingSanger sequencingGenomelcsh:RJ1-570Perinatology and Child HealthSettore MED/38Intensive Care UnitsItalyWhole-exome sequencingPractice Guidelines as TopicsymbolsWESFemaleHumanDiagnosiNICUmedicine.medical_specialtyMendelian03 medical and health sciencessymbols.namesakeOutcome Assessment (Health Care)Neonatal ScreeningNeonatal intensive care unitGeneticIntensive Care Units NeonatalExome SequencingmedicineDiagnosis; Genetic; Genome; Mendelian; Neonatal intensive care unit; Neonate; NICU; WES; WGS; Whole-exome sequencing; Pediatrics Perinatology and Child HealthHumansGenetic TestingIntensive care medicineSettore MED/06 - ONCOLOGIA MEDICAGenetic heterogeneityCritically illbusiness.industryGenome HumanInfant NewbornInfantlcsh:PediatricsNewbornInfant newborn030104 developmental biologyDiagnosis; Genetic; Genome; Mendelian; NICU; Neonatal intensive care unit; Neonate; WES; WGS; Whole-exome sequencing; Female; Genetic Testing; Genome Human; Humans; Infant; Infant Newborn; Intensive Care Units Neonatal; Italy; Male; Neonatal Screening; Outcome Assessment (Health Care); Policy Making; Whole Exome Sequencing; Practice Guidelines as TopicPediatrics Perinatology and Child HealthDifferential diagnosisbusinessWGS
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The burden and epidemiology of community-acquired central nervous system infections: a multinational study

2017

Ghaydaa, Shehata/0000-0002-3631-893X; Radic, Ljiljana Betica/0000-0002-8778-106X; Silva-Pinto, Andre/0000-0002-2077-3356; Cascio, Antonio/0000-0002-1992-1796; Bossi, Paolo/0000-0003-0135-0224; Stebel, Roman/0000-0001-6922-4465; Namani, Sadie/0000-0002-2411-8623; Chan, Phillip/0000-0002-4071-4409; Hargreaves, Sally/0000-0003-2974-4348; Artuk, Cumhur/0000-0003-0827-990X; Harxhi, Arjan/0000-0001-8518-7377; Larsen, Lykke/0000-0002-4113-4182; Uysal, Serhat/0000-0002-4294-5999 WOS: 000407582200010 PubMed: 28397100 Risk assessment of central nervous system (CNS) infection patients is of key importance in predicting likely pathogens. However, data are lacking on the epidemiology globally. We perfor…

0301 basic medicineMaleOutcome AssessmentAdverse Clinical Outcomemedicine.disease_causeCentral nervous system infections ; burden ; epidemiologyMedical microbiologyCentral Nervous System InfectionsOutcome Assessment Health CareEpidemiology80 and overAged 80 and overbiologyAge FactorsGeneral MedicineMiddle AgedCommunity-Acquired InfectionsInfectious Diseases[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyPopulation SurveillanceFemaleNeuroborreliosisHuman Immunodeficiency VirusMicrobiology (medical)Adultmedicine.medical_specialtyTuberculosisSettore MED/17 - Malattie Infettive030106 microbiologyBrain AbscessCentral Nervous System InfectionNeurosyphilisMycobacterium tuberculosis03 medical and health sciencesYoung AdultInternal medicineStreptococcus pneumoniaeJournal ArticlemedicineHumansAgedRetrospective Studiesbusiness.industryVaricella zoster virusmedicine.diseasebiology.organism_classificationHealth CareCross-Sectional StudiesCentral Nervous System DiseaseBrain AbsceHuman Immunodeficiency ViruImmunologybusiness
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Acute Necrotic Plaque in an Immunocompromised Host.

2017

0301 basic medicineMalePathologymedicine.medical_specialtyNecrosisAntifungal Agentsmedicine.medical_treatment030106 microbiologyGraft vs Host DiseaseDermatologyHematopoietic stem cell transplantationOpportunistic InfectionsRisk AssessmentPathology and Forensic Medicine03 medical and health sciencesImmunocompromised HostNecrosismedicineHumansMucormycosisbusiness.industryHost (biology)MucormycosisBiopsy NeedleHematopoietic Stem Cell TransplantationGeneral MedicineMiddle Agedmedicine.diseasePrognosisImmunohistochemistryAcute DiseaseDrug Therapy Combinationmedicine.symptomEpidermisbusinessThe American Journal of dermatopathology
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Short‐term neuropsychiatric outcomes and quality of life in COVID‐19 survivors

2021

BACKGROUND: The general medical impacts of coronavirus (COVID-19) are increasingly appreciated. However, its impact on neurocognitive, psychiatric health and quality of life (QoL) in survivors after the acute phase is poorly understood. We aimed to evaluate neurocognitive function, psychiatric symptoms, and QoL in COVID-19 survivors shortly after hospital discharge. METHODS: This was a cross-sectional analysis of a prospective study of hospitalised COVID-19 survivors followed-up for 2 months after discharge. A battery of standardised instruments evaluating neurocognitive function, psychiatric morbidity, and QoL (mental and physical components) was administered by telephone. RESULTS: Of the …

0301 basic medicineMalePediatrics030204 cardiovascular system & hematologyAnxietySevere Acute Respiratory SyndromeStress Disorders Post-Traumatic0302 clinical medicineCognitionQuality of lifeOutcome Assessment Health CareMedicineVerbal fluency testProspective StudiesSurvivorsProspective cohort studyLetter to the EditorDepression (differential diagnoses)Aged 80 and overPsychiatryDepressionMiddle AgedsequelaehumanitiesMemory Short-TermneurocognitiveAnxietyFemaleOriginal Articlemedicine.symptomAdultmedicine.medical_specialtypsychiatric morbidity03 medical and health sciencesYoung AdultSex FactorsCOVID‐19Internal MedicineHumansAgedMemory Disordersbusiness.industryWorking memorySARS-CoV-2COVID-19Original Articles030104 developmental biologyCross-Sectional Studiesquality of lifeDeliriumbusinessCognition DisordersNeurocognitiveCOVID-19 neurocognitive psychiatric morbidity quality of life sequelaeJournal of Internal Medicine
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Is prolonged infusion of piperacillin/tazobactam and meropenem in critically ill patients associated with improved pharmacokinetic/pharmacodynamic an…

2016

Objectives: We utilized the database of the Defining Antibiotic Levels in Intensive care unit patients (DALI) study to statistically compare the pharmacokinetic/pharmacodynamic and clinical outcomes between prolonged- infusion and intermittent-bolus dosing of piperacillin/tazobactam and meropenem in critically ill patients using inclusion criteria similar to those used in previous prospective studies. Methods: This was a post hoc analysis of a prospective, multicentre pharmacokinetic point-prevalence study (DALI), which recruited a large cohort of critically ill patients from 68 ICUs across 10 countries. Results: Of the 211 patients receiving piperacillin/tazobactam and meropenem in the DAL…

0301 basic medicineMalePenicillanic Acidintensive care unitlaw.inventionthienamycin derivative abdominal infection[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseaseslawcentral nervous system infectioncreatinine clearancePharmacology (medical)Infusions IntravenouProspective StudiesInfusions IntravenousProspective cohort studyTazobactam Drug CombinationAged; Anti-Bacterial Agents; Blood Chemical Analysis; Critical Illness; Female; Humans; Infusions Intravenous; Intensive Care Units; Male; Meropenem; Microbial Sensitivity Tests; Middle Aged; Penicillanic Acid; Piperacillin; Piperacillin Tazobactam Drug Combination; Prospective Studies; Thienamycins; Treatment Outcome; Pharmacology; Microbiology (medical); Pharmacology (medical); Infectious Diseasescritical illneMicrobial Sensitivity TestadultRespiratory infectionclinical trialMiddle Agedcontinuous infusionanalogs and derivativeIntensive care unit3. Good healthAnti-Bacterial Agentsantiinfective agentintravenous drug administrationIntensive Care Units[SDV.MP]Life Sciences [q-bio]/Microbiology and ParasitologyTreatment OutcomeInfectious DiseasesPiperacillin/tazobactammulticenter study (topic)SOFA scoreFemaletreatment outcome AgedIntravenousprospective studyHumanmedicine.drugsurvival rateMicrobiology (medical)medicine.medical_specialtyInfusionspost hoc analysirespiratory tract infectionCritical IllnessAged; Anti-Bacterial Agents; Blood Chemical Analysis; Critical Illness; Female; Humans; Infusions Intravenous; Intensive Care Units; Male; Microbial Sensitivity Tests; Middle Aged; Penicillanic Acid; Piperacillin; Prospective Studies; Thienamycins; Treatment Outcome; Pharmacology; Pharmacology (medical); Infectious Diseases030106 microbiologybloodstream infectionMicrobial Sensitivity Testsminimum inhibitory concentrationpiperacillin plus tazobactamMeropenemTazobactamArticle03 medical and health sciencescritically ill patientInternal medicineAnti-Bacterial AgentmedicineSequential Organ Failure Assessment ScoreHumansThienamycinsurvival timeblood analysiAgedPiperacillinPharmacologybusiness.industryBlood Chemical AnalysiMeropenemmajor clinical studySurgeryProspective Studiemulticenter studyPharmacology; Pharmacology (medical); Infectious Diseases[SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/PharmacologyThienamycinspiperacillin tazobactam drug combinationurinary tract infectionbusinessBlood Chemical AnalysisPiperacillin
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RAAS inhibitors are not associated with mortality in COVID-19 patients: Findings from an observational multicenter study in Italy and a meta-analysis…

2020

Abstract Objective The hypothesis that been set forward that use of Renin Angiotensin Aldosterone System (RAAS) inhibitors is associated with COVID−19 severity. We set-up a multicenter Italian collaboration (CORIST Project, ClinicalTrials.gov ID: NCT04318418 ) to retrospectively investigate the relationship between RAAS inhibitors and COVID−19 in-hospital mortality. We also carried out an updated meta-analysis on the relevant studies. Methods We analyzed 4069 unselected patients with laboratory-confirmed SARS-CoV-2 infection and hospitalized in 34 clinical centers in Italy from February 19, 2020 to May 23, 2020. The primary end-point in a time-to event analysis was in-hospital death, compar…

0301 basic medicineMalePhysiologyMiddle Aged Renin-Angiotensin SystemAngiotensin-Converting Enzyme Inhibitors030204 cardiovascular system & hematologyACE-I; ARB; COVID-19; angiotensin converting enzyme inhibitors; angiotensin receptor blockers; mortality; sartansSeverity of Illness IndexRenin-Angiotensin System0302 clinical medicineangiotensin converting enzyme inhibitorsRisk FactorsACE-I80 and overMedicineHospital MortalitySartanAged 80 and overIncidence (epidemiology)IncidenceHazard ratioAngiotensin Receptor AntagonistMiddle AgedsartansARBHospitalizationAntihypertensive AgentItalyMeta-analysisHypertensionSartansMolecular MedicineFemaleRisk assessmentHumanmedicine.medical_specialtyAngiotensin converting enzyme inhibitors; ACE-I; Angiotensin receptor blockers; ARB; Sartans; COVID-19; MortalityCoronavirus disease 2019 (COVID-19)Risk AssessmentArticleCOVID−1903 medical and health sciencesAngiotensin Receptor AntagonistsMeta-Analysis as TopicInternal medicineSeverity of illnessHumansAngiotensin receptor blockerMortalityAntihypertensive AgentsAgedPharmacologyACE-I; ARB; Angiotensin converting enzyme inhibitors; Angiotensin receptor blockers; COVID−19; Mortality; Sartans; Aged; Aged 80 and over; Angiotensin Receptor Antagonists; Angiotensin-Converting Enzyme Inhibitors; Antihypertensive Agents; COVID-19; Female; Hospitalization; Humans; Hypertension; Incidence; Italy; Male; Meta-Analysis as Topic; Middle Aged; Renin-Angiotensin System; Risk Assessment; Risk Factors; Severity of Illness Index; Hospital Mortalitybusiness.industryRisk FactorCOVID-19Angiotensin-Converting Enzyme InhibitorAngiotensin receptor blockersmortalityConfidence intervalangiotensin receptor blockersAngiotensin converting enzyme inhibitors030104 developmental biologyACE-I; ARB; COVID-19 angiotensin converting enzyme inhibitors angiotensin receptor blockers mortality sartansObservational studyAngiotensin converting enzyme inhibitorbusiness
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Fluid and total water intake in a senior mediterranean population at high cardiovascular risk: demographic and lifestyle determinants in the PREDIMED…

2019

Purpose: We aimed to evaluate associations between compliance with recommendations for total water intake (TWI) and total water intake from fluids (TWIF), and some socio-demographic and lifestyle factors of a senior Mediterranean population at high cardiovascular risk. Methods: Cross-sectional analysis with data of 1902 participants from the PREDIMED-Plus study. A validated 32-item Spanish fluid-intake questionnaire was used to assess beverage consumption and water intake. Multivariable logistic regression models were used to assess the odds ratio (OR) and the 95% confidence interval (CI) for complying with European Food Safety Agency recommendations for TWI and TWIF according to various so…

0301 basic medicineMaleRiskTotal water intake (TWI)Mediterranean dietPopulationHealth BehaviorDrinkingMedicine (miscellaneous)030209 endocrinology & metabolismLogistic regressionBeverages03 medical and health sciences0302 clinical medicineWho recommendationsSex FactorsEnvironmental healthMediterranean dietMedicineHumansWater intakeFluid intakeeducationGeriatric AssessmentLife StyleBeverages Fluid intake Mediterranean diet Total water intake (TWI)Agededucation.field_of_study030109 nutrition & dieteticsNutrition and Dieteticsbusiness.industryDrinking WaterOdds ratioMiddle AgedPredimedConfidence intervalSociological FactorsCross-Sectional StudiesCardiovascular DiseasesSpainFemalebusiness
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Dietary intake in population with metabolic syndrome: is the prevalence of inadequate intake influenced by geographical area? cross-sectional analysi…

2018

Inadequate diet influences chronic diseases such as cardiovascular disease (CVD), the leading cause of death in Spain. CVD figures vary from one geographical region to another

0301 basic medicineMaleSíndrome metabòlicacumplimiento del pacienteCross-sectional studyhumanosejercicio físicoOverweightDiet MediterraneanRecommended Dietary AllowancesgeografíaNutrientClinical trialsSurveys and QuestionnairesFood choicePrevalenceMedicineMicronutrientsmediana edadDietoteràpiaRandomized Controlled Trials as Topic2. Zero hungereducation.field_of_studyancianoNutrition and DieteticssobrepesoGeographydietaensayos clínicos controlados aleatorizados como asuntoprevalenciaPREDIMED-Plus studyMiddle AgedMetabolic syndrome3. Good healthestado nutricionalDietary Reference IntakePlace of residenceFemalemedicine.symptomevaluación nutricionalcantidad dietética recomendadageographical arealcsh:Nutrition. Foods and food supplynutrient adequacyPopulationNutritional Statuslcsh:TX341-641metabolic syndromeArticle03 medical and health sciencesEnvironmental healthHumansplace of residencecardiovascular diseasesObesityeducationobesidadExerciseAgedGeographical area030109 nutrition & dieteticsNutrient adequacybusiness.industryDietary intakeDiet therapymicronutrientesOverweightmedicine.diseaseObesityDietCross-Sectional StudiesNutrition AssessmentSpainPatient ComplianceMetabolic syndromebusinessdietary intakeFood ScienceAssaigs clínicsestudios transversales
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Hyperuricemia and Risk of Cardiovascular Outcomes: The Experience of the URRAH (Uric Acid Right for Heart Health) Project

2020

The latest European Guidelines of Arterial Hypertension have officially introduced uric acid evaluation among the cardiovascular risk factors that should be evaluated in order to stratify patient's risk. In fact, it has been extensively evaluated and demonstrated to be an independent predictor not only of all-cause and cardiovascular mortality, but also of myocardial infraction, stroke and heart failure. Despite the large number of studies on this topic, an important open question that still need to be answered is the identification of a cardiovascular uric acid cut-off value. The actual hyperuricemia cut-off (> 6 mg/dL in women and 7 mg/dL in men) is principally based on the saturation …

0301 basic medicineMaleTime FactorsDiseaseUric acid.chemistry.chemical_compound0302 clinical medicineRisk FactorsUric Acid Cardiovascular events epidemiologyEpidemiologyMulticenter Studies as TopicHyperuricemiaStrokeCardiovascular events; Cardiovascular mortality; Uric acid; URRAHMiddle AgedPrognosisObservational Studies as TopicItalyCardiovascular DiseasesResearch DesignFemaleCardiology and Cardiovascular MedicineAdultmedicine.medical_specialtyCardiovascular mortalityUric acid · Cardiovascular mortality · Cardiovascular events · URRAHContext (language use)Cardiovascular eventHyperuricemiaRisk AssessmentCardiovascular events03 medical and health sciencesURRAHcardiovascular events; cardiovascular mortality; urrah; uric acidPharmacotherapyInternal medicineInternal MedicinemedicineHumansAgedRetrospective Studiesbusiness.industrymedicine.disease030104 developmental biologychemistryHeart failureUric acidbusinessUric acid030217 neurology & neurosurgeryCardiovascular events; Cardiovascular mortality; Uric acid; URRAH; Adult; Aged; Biomarkers; Cardiovascular Diseases; Female; Humans; Hyperuricemia; Italy; Male; Middle Aged; Multicenter Studies as Topic; Observational Studies as Topic; Prognosis; Research Design; Retrospective Studies; Risk Assessment; Risk Factors; Time Factors; Uric AcidBiomarkers
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