Search results for "Imbalance"

showing 10 items of 68 documents

Imbalance between genomic gain and loss identifies high-risk neuroblastoma patients with worse outcomes

2021

Survival in high-risk neuroblastoma (HR-NB) patients remains poor despite multimodal treatment. We aimed to identify HR-NB patients with worse outcomes by analyzing the genomic instability derived from segmental chromosomal aberrations. We calculated 3 genomic instability indexes for primary tumor SNP array profiles from 127 HR-NB patients: (1) Copy number aberration burden (%gainslength+%losseslength), (2) copy number load (CNL) (%gainslength-%losseslength) and (3) net genomic load (NGL) (%gainsamount-%lossesamount). Tumors were classified according to positive or negative CNL and NGL genomic subtypes. The impact of the genomic instability indexes on overall survival (OS) was assessed with…

Male0301 basic medicineGenome instabilityOncologyCancer ResearchCopy number loadSNPa single nucleotide polymorphism arrayNeuroblastoma0302 clinical medicineHigh risk neuroblastomaSegmental chromosomal aberrationsHR high-riskCNA copy number aberrationTumor biologyCNL copy number loaddNGL decreased net genomic loadlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensPrognosisPrimary tumornCNL negative copy number loadGI genomic instabilityHomogeneous030220 oncology & carcinogenesisMNA MYCN-amplificationFemaleHR-NB high-risk neuroblastomaNB neuroblastomaSNP arrayOriginal articlemedicine.medical_specialtyDNA Copy Number VariationsiNGL increased net genomic loadpCNL positive copy number loadhetMNA heterogeneous MYCN-amplificationlcsh:RC254-282Polymorphism Single NucleotideGenomic InstabilityUHR ultra-high-riskOS overall survivalNet genomic load03 medical and health sciencesSCA segmental chromosomal aberrationInternal medicineNeuroblastomamedicineHumansNGL net genomic loadGenetic Predisposition to DiseaseGenomic imbalanceGenetic Association StudiesEFS event-free survivalProportional Hazards ModelsChromosome AberrationsPloidieshomMNA homogeneous MYCN-amplificationProportional hazards modelbusiness.industryGene AmplificationGenetic Variationmedicine.diseasePatient Outcome AssessmentCopy number aberration burden030104 developmental biologybusinessNeoplasia
researchProduct

Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disabilit…

2019

International audience; Purpose Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. It is a rare autosomal recessive condition characterized by hypotrichosis and intellectual disability (ID) or developmental delay (DD), frequently associated with early-onset epilepsy and other dermatological features. Methods Through a multicenter international collaborative study, we identified LSS pathogenic variants in APMR individu…

MaleDevelopmental DisabilitiesIntellectual disabilitycholesterol pathwayWhole Exome Sequencingchemistry.chemical_compoundMissense mutationAge of OnsetChildIntramolecular TransferasesGenetics (clinical)Exome sequencingGeneticsSanger sequencing0303 health sciencesbiologyLanosterol030305 genetics & heredityLSS3. Good healthPedigreeCholesterolPhenotypeintellectual disabilityChild PreschoolAllelic ImbalanceCongenital cataractssymbolsFemaleSqualeneearly-onset epileptic encephalopathy03 medical and health sciencessymbols.namesakeLanosterolCholesterol pathwayExome SequencingmedicineHumans030304 developmental biologyEpilepsyInfantAlopeciaalopeciamedicine.diseaseEarly-onset epileptic encephalopathychemistryMutationbiology.proteinHypotrichosis[SDV.AEN]Life Sciences [q-bio]/Food and Nutrition[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology[SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/DermatologyLanosterol synthase
researchProduct

Predictors of clinical events occurring during hospital stay among elderly patients admitted to medical wards in Italy.

2016

Abstract Background Clinical events occurring during hospital stay are independent predictors of prolonged hospitalization, in-hospital mortality and readmission among elderly patients admitted to medical wards. Purpose To identify predictors of intercurrent clinical events (ICE) during hospital stay among the main demographic, functional and clinical characteristics assessed at hospital admission in a multicenter sample of elderly inpatients in Italy. Methods This observational prospective cohort study was conducted in 66 internal and geriatric medicine hospital wards in 2010. It enrolled 1267 inpatients aged 65 years or older living at home before hospitalization. Multivariable Poisson re…

MalePediatricsmedicine.medical_specialtySettore MED/09 - Medicina InternaFevermedicine.medical_treatmentWater-Electrolyte ImbalanceRisk AssessmentUrinary catheterizationBody Temperature03 medical and health sciencessymbols.namesake0302 clinical medicineRisk FactorsInternal MedicinemedicineOdds RatioHumans030212 general & internal medicinePoisson regressionPoisson DistributionProspective StudiesProspective cohort studyAgedGeriatricsAged 80 and overbusiness.industry030503 health policy & servicesAnemiaArrhythmias CardiacProton Pump InhibitorsOdds ratioPneumoniamedicine.diseaseComorbidityHospitalizationItalyRelative riskEmergency medicineMultivariate AnalysisUrinary Tract InfectionssymbolsElderly Intercurrent clinical events Adverse events REPOSI HospitalizationObservational studyFemale0305 other medical sciencebusinessUrinary CatheterizationImmunosuppressive AgentsEuropean journal of internal medicine
researchProduct

Prognostic Impact of Hyponatremia and Hypernatremia in COVID-19 Pneumonia. A HOPE-COVID-19 (Health Outcome Predictive Evaluation for COVID-19) Regist…

2020

Dysnatremia is associated with increased mortality in patients with community-acquired pneumonia. SARS-COV2 (Severe-acute-respiratory syndrome caused by Coronavirus-type 2) pneumonia can be fatal. The aim of this study was to ascertain whether admittance dysnatremia is associated with mortality, sepsis, or intensive therapy (IT) in patients hospitalized with SARS-COV2 pneumonia. This is a retrospective study of the HOPE-COVID-19 registry, with data collected from January 1th through April 31th, 2020. We selected all hospitalized adult patients with RT-PCR-confirmed SARS-COV2 pneumonia and a registered admission serum sodium level (SNa). Patients were classified as hyponatremic (SNa <…

MalehyponatremiaEndocrinology Diabetes and Metabolism030204 cardiovascular system & hematologyGlobal Healthlcsh:Diseases of the endocrine glands. Clinical endocrinology:Health Care::Health Care Quality Access and Evaluation::Quality of Health Care::Health Care Evaluation Mechanisms::Outcome and Process Assessment (Health Care) [Medical Subject Headings]:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]sepsis0302 clinical medicineEndocrinology:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies::Retrospective Studies [Medical Subject Headings]HiponatremiaOutcome Assessment Health CareSARS-COV2Hospital MortalityRegistriesOriginal Research:Persons::Persons::Age Groups::Adult::Aged [Medical Subject Headings]:Health Care::Environment and Public Health::Public Health::Epidemiologic Methods::Data Collection::Registries [Medical Subject Headings]HypernatremiahypernatremiaMiddle AgedPrognosisVirusHospitalizationSurvival Rate:Analytical Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Patient Care::Hospitalization [Medical Subject Headings]HipernatremiaFemaleHyponatremiaHyponatremiamedicine.medical_specialty:Information Science::Information Science::Data Collection::Vital Statistics::Mortality::Survival Rate [Medical Subject Headings]Coronavirus disease 2019 (COVID-19)Infecciones por coronavirus:Check Tags::Male [Medical Subject Headings]030209 endocrinology & metabolismSepsis03 medical and health sciencesInternal medicineSepsis:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies::Longitudinal Studies::Follow-Up Studies [Medical Subject Headings]medicineHumans:Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Water-Electrolyte Imbalance::Hypernatremia [Medical Subject Headings]MortalitySurvival rateAgedRetrospective Studieslcsh:RC648-665business.industrySARS-CoV-2COVID-19Retrospective cohort study:Persons::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings]Aparato respiratoriomedicine.diseasemortality:Diseases::Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [Medical Subject Headings]Clinical trialbody regionsPneumonia:Check Tags::Female [Medical Subject Headings]:Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Water-Electrolyte Imbalance::Hyponatremia [Medical Subject Headings]Mortalidad:Analytical Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Prognosis [Medical Subject Headings]:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Mortality::Hospital Mortality [Medical Subject Headings]HypernatremiabusinessFollow-Up Studies
researchProduct

Cultural institutions as agents of urban and community regeneration in the (post-)pandemic city. The case of the «Laboratorio Zen Insieme» in Palermo

2022

Although all cities in the world have been affected by the COVID-19 pandemic, its impacts on the territories, yet to be understood, are unevenly distributed, revealing extremely varied imbalances depending on the places. However, it is clear that the virus and its variants have aggravated pre-existing socio-spatial inequalities, creating new ones and bringing attention back to those implications between space, planning, public health and citizenship that are at the origins of contemporary urbanism. In a reference framework in which the crisis is globalized but unequal and in the absence of a welfare system capable of responding to the urgencies of the most marginalized social contexts and g…

Olsen 2018Settore ICAR/21 - UrbanisticaSettore M-GGR/01 - GeografiaSacco and Blessi 2009). In the current (post-) pandemic context and through the lens of a southern European perspective the purpose of this article is to critically reflect about the role of culture as possible vehicle of urban and community regeneration. In particular we will focus on the activities of the no profit organization «Laboratorio Zen Insieme» in ZEN2 one of the last large popular and peripheral neighborhoods built in Palermo at the end of 80s in order to explore and understand how cultural practices work as agent of urban and social transformation capable of addressing emerging issues especially in the pandemic scenario we are experiencing. Thecasestudy has been conducted through analysis of documents participative observations (Honer and Hitzler 2015) and qualitative in-depth interviews with key actors involved in the conception organization and management of the activities carried out by Laboratorio Zen Insieme with representatives of local institutions and non-formal conversations with participants of the workshops heldin the neighborhood. The experience we narrate finds that cultural practices have re-conceptualized their design and functions as strategies of urban and community regeneration and at the same time have contributed to answer to emergent issues in developing proximity and local based strategies facing up to problems inherent civil rights educationalpoverty socio-spatial justice and have changed the image and identity of urban places they inhabit.In this sense the research provides a framework for development of strategies and legitimization for cultural practices and a point of discussionabouttheirrolein urban development.Although all cities in the world have been affected by the COVID-19 pandemic its impacts on the territories yet to be understood are unevenly distributed revealing extremely varied imbalances depending on the places. However it is clear that the virus and its variants have aggravated pre-existing socio-spatial inequalities creating new ones and bringing attention back to those implications between space planning public health and citizenship that are at the origins of contemporary urbanism. In a reference framework in which the crisis is globalized but unequal and in the absence of a welfare system capable of responding to the urgencies of the most marginalized social contexts and groups a response to the new social and individual needs has been offered by cultural institutions that play a role of territorial agency often independently or in the absence of political institutions. Far from the idea of entertainment and divertissement it is in fact increasingly clear how the practices of cultural innovation experimenting with various forms of action and participation can in some cases play a fundamental role in the processes of social cohesion and community building representing an antidote to the worsening of the phenomena of marginalization and socio-spatial inequalities within cities and territories (Colantonio and Dixon 2011
researchProduct

Role of Allelic Imbalance in Predicting Hepatocellular Carcinoma (HCC) Recurrence Risk After Liver Transplant.

2019

BACKGROUND One of the most controversial problems for liver transplantation in patients affected by hepatocellular carcinoma (HCC) remains the lack of an oncologic staging system to predict cancer recurrence after liver transplantation (LT). We analyzed allelic imbalance (AI) in 19 microsatellites, and assessed the post-LT HCC recurrence risk. MATERIAL AND METHODS Seventy-one patients were included; 18 had tumor recurrence within 5 years post-transplant. Molecular analysis was done in the primary HCC and peripheral blood samples: a total of 19 microsatellites was used to assess AI. Specific AI was evaluated when outside of range value between 0.66 and 1.5. Based on data in the literature, w…

OncologyMalemedicine.medical_specialtyCarcinoma Hepatocellularmedicine.medical_treatmentLiver transplantationAllelic ImbalanceCancer recurrenceRecurrence risk03 medical and health sciences0302 clinical medicineRisk FactorsInternal medicinemedicineHumansIn patientAgedRetrospective StudiesTransplantationOriginal Paperbusiness.industryLiver NeoplasmsGeneral MedicineMiddle Agedmedicine.diseasePrognosisPeripheral bloodMolecular analysisLiver TransplantationTreatment Outcome030220 oncology & carcinogenesisHepatocellular carcinomaAllelic Imbalance030211 gastroenterology & hepatologyFemaleNeoplasm Recurrence LocalbusinessAllelic Imbalance Carcinoma Hepatocellular Liver Transplantation Treatment Outcome Aged Carcinoma Hepatocellular Female Humans Liver Neoplasms Male Middle Aged Neoplasm Recurrence Local Prognosis Retrospective Studies Risk Factors Treatment Outcome Allelic Imbalance Liver TransplantationAnnals of transplantation
researchProduct

Effects of external imbalances on GDP recovery patterns

2021

Abstract A decade after the beginning of the Great Recession, flow external imbalances, measured by the current account (CA) have narrowed markedly. However, stock or net foreign assets (NFA) imbalances have kept increasing and have created challenges for future macroeconomic and financial stability. To date, early warning systems (scoreboards) have focused more on flow than on stock variables. To approach this problem, in this paper we analyze expansions using two complementary sets of indicators proposed by Harding and Pagan (2002) and Gadea et al. (2017) for the period 1950–2016. After controlling for a large set of explanatory variables, we find that the effect of CA imbalances is limit…

Organizational Behavior and Human Resource ManagementEconomics and EconometricsWarning systemrecoveriesNFAmedia_common.quotation_subject05 social sciencesMonetary economicsCurrent accountRecessionGreat recessionexternal imbalancesbusiness cycles0502 economics and businessBusiness cycleEconomicsNet foreign assets050207 economicsExplanatory powercurrent accountStock (geology)050205 econometrics media_common
researchProduct

The EU and global imbalances

2015

The EU’s Role in Fighting Global Imbalances looks at the role of the European Union in addressing some of the greatest challenges of our time: poverty, protectionism, climate change, and human trafficking. Contributions from ten leading scholars in the fields of economics, law, and political science provide in-depth analyses of three key dimensions of EU foreign policy, namely: the internal challenges facing the EU, as its 28 member countries struggle to coordinate their actions; the external challenges facing the EU on the global arena, in areas where global imbalances are particularly pervasive, and where measures taken by the Union can have an important impact; and the EU´s performance o…

PoliticsEconomic growthPovertyForeign policyPolitical economyPolitical sciencePublic policymedia_common.cataloged_instanceHuman traffickingGlobal imbalancesEuropean unionProtectionismmedia_common
researchProduct

Frequency dynamics of power systems with temporally distributed disturbances

2021

Abstract The frequency dynamics and stability of power systems is essentially affected by nature and characteristics of the disturbances occurring in the system. Conventionally, frequency transients are examined assuming a single disturbance applied at a given time. However, actual incidents in the power systems can be generally composed of a temporal sequence of events, and thus characterized by multiple power imbalances of different magnitudes and time offsets. The consideration of the effects of the temporal distribution of power imbalances is important for two main reasons: the impact on the frequency dynamics of the system in terms of frequency metrics such as minimum instantaneous fre…

Primary frequency controlRenewable Energy Sustainability and the EnvironmentComputer scienceWork (physics)Energy Engineering and Power TechnologyDistributed powerStability (probability)Instantaneous phasePower (physics)Settore ING-IND/33 - Sistemi Elettrici Per L'EnergiaElectric power systemControl and Systems EngineeringControl theorySystem splitTransient (oscillation)Electrical and Electronic EngineeringRepresentation (mathematics)Power imbalancePower system dynamicFrequency transientSustainable Energy, Grids and Networks
researchProduct

Long-term patterns of effort-reward imbalance and over-commitment: Investigating occupational well-being and recovery experiences as outcomes

2013

The aim of this study was, first, to identify long-term patterns of effort-reward imbalance (ERI) and over-commitment (OVC), and, second, to examine how occupational well-being (burnout, work engagement) and recovery experiences (psychological detachment, relaxation, mastery and control) differ in these patterns. The study was based on follow-up data with three measurement points (2006, 2008, 2010) collected from Finnish managers (N=298). Latent Profile Analysis resulted in five long-term ERI-OVC patterns: a high-risk pattern (high ERI, high OVC), found in 20% of the participants; a low-risk pattern (low ERI, low OVC), found in 24% of participants; a relatively low-risk pattern (low ERI, mo…

Psychological detachmentWork engagementEmployee engagementWell-beingOccupational stressBurnoutPsychologySocial psychologyta515Applied PsychologyDemographyTerm (time)Effort reward imbalanceWork & Stress
researchProduct