Search results for "Family member"

showing 10 items of 28 documents

TNFSF14 (LIGHT) Exhibits Inflammatory Activities in Lung Fibroblasts Complementary to IL-13 and TGF-β

2018

The cytokine TNFSF14 [homologous to Lymphotoxin, exhibits Inducible expression and competes with HSV Glycoprotein D for binding to HVEM, a receptor expressed on T lymphocytes (LIGHT)] has been shown in mouse models to be important for development of lung tissue remodeling that is characteristic of asthma, idiopathic pulmonary fibrosis (IPF), and systemic sclerosis (SSc). However, its cellular targets are not fully delineated. In the present report, we show that LTβR and HVEM, the receptors for LIGHT, are constitutively expressed in primary human lung fibroblasts (HLFs). We asked whether LIGHT could promote inflammatory and remodeling-relevant activity in HLFs and how this was similar to, or…

0301 basic medicinelcsh:Immunologic diseases. AllergyTGF-βChemokineTumor Necrosis Factor Ligand Superfamily Member 14medicine.medical_treatmentImmunologyGene ExpressionInflammationProinflammatory cytokineCell Line03 medical and health sciences0302 clinical medicineTransforming Growth Factor betamedicineImmunology and AllergyHumansLungCells CulturedOriginal ResearchCell ProliferationInterleukin-13biologyChemistrylung fibroblastsasthmaFibroblasts3. Good healtha receptor expressed on T lymphocytes030104 developmental biologyCytokineLymphotoxinCXCL5030220 oncology & carcinogenesisIL-13Interleukin 13biology.proteinCancer researchCytokinesexhibits Inducible expression and competes with HSV Glycoprotein D for binding to HVEMmedicine.symptomhomologous to LymphotoxinInflammation Mediatorslcsh:RC581-607MyofibroblastBiomarkersFrontiers in Immunology
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Factors associated with poor adherence to MMR vaccination in parents who follow vaccination schedule.

2014

Due to median vaccination coverage far from elimination level, Italy is still an European country with high number of measles cases per million of people. In this study we explored potential socioeconomic, medical and demographic factors which could influence the propensity of family members for measles vaccination schedule. A cross-sectional study was performed through a questionnaire administered to the parents of children who received the first dose of MMR vaccine in two different vaccination centers in the Palermo area from November 2012 to May 2013. Overall, the role played by internet (OR 19.8 P = 0.001) and the large number of children in a family (OR 7.3 P ≤ 0.001) were the factors …

AdultMaleParentsPediatricsmedicine.medical_specialtyMeasles-Mumps-Rubella VaccineVaccination scheduleCross-sectional studyImmunologyMMR vaccineSettore MED/42 - Igiene Generale E ApplicataMeaslesMedication AdherencechildrenSurveys and QuestionnairesmedicineImmunology and AllergyHumansmeaslebirth orderSocioeconomic statusPharmacologypersonal decisionbusiness.industryVaccinationInfant NewbornInfantmedicine.diseaseVaccinationBirth orderCross-Sectional Studiesvaccination refuseSocioeconomic FactorsItalyfamily memberChild PreschoolFemaleinternetbusinessMeasles-Mumps-Rubella VaccineDemographyResearch PaperMeasles
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Criteria deemed important by the relatives for designating a reference person for patients hospitalized in ICU

2020

Abstract Purpose We investigated the criteria that patients' relatives deem important for choosing, among themselves, the person best qualified to interact with the caregiving staff. Methods Exploratory, observational, prospective, multicentre study between 1st March and 31st October 2018 in 2 intensive care units (ICUs). A 12-item questionnaire was completed anonymously by family members of patients hospitalized in the ICU 3 and 5 days after the patient's admission. Relatives were eligible if they understood French and if no surrogate had been appointed by the patient prior to ICU admission. More than one relative per patient could participate. Results In total, 87 relatives of 73 patients…

AdultMalemedicine.medical_specialtyCritical Care[SDV]Life Sciences [q-bio]Decision MakingEmotionsCritical Care and Intensive Care MedicineProxy (climate)law.invention03 medical and health sciences0302 clinical medicineClinical historylawSurveys and QuestionnairesIntensive careHumansMedicineFamilyProspective StudiesAgedbusiness.industry030208 emergency & critical care medicineMiddle AgedIntensive care unitIcu admissionHospitalizationIntensive Care UnitsFamily memberCaregivers030228 respiratory systemSpouseFamily medicineFemaleObservational studyFamily RelationsbusinessJournal of Critical Care
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Tif1γ regulates the TGF-β1 receptor and promotes physiological aging of hematopoietic stem cells.

2014

The hematopoietic system declines with age. Myeloid-biased differentiation and increased incidence of myeloid malignancies feature aging of hematopoietic stem cells (HSCs), but the mechanisms involved remain uncertain. Here, we report that 4-mo-old mice deleted for transcription intermediary factor 1γ (Tif1γ) in HSCs developed an accelerated aging phenotype. To reinforce this result, we also show that Tif1γ is down-regulated in HSCs during aging in 20-mo-old wild-type mice. We established that Tif1γ controls TGF-β1 receptor (Tgfbr1) turnover. Compared with young HSCs, Tif1γ(-/-) and old HSCs are more sensitive to TGF-β signaling. Importantly, we identified two populations of HSCs specifical…

AgingMyeloidReceptor Transforming Growth Factor-beta Type IReceptors Cell SurfaceCell SeparationBiologyProtein Serine-Threonine KinasesTransforming Growth Factor beta1MiceSignaling Lymphocytic Activation Molecule Family Member 1Antigens CDmedicineAnimalsMyeloid CellsRNA MessengerPolyubiquitinTranscription factorCellular SenescenceRegulation of gene expressionMultidisciplinaryUbiquitinationhemic and immune systemsBiological SciencesHematopoietic Stem CellsCell biologyHematopoiesisHaematopoiesismedicine.anatomical_structurePhysiological AgingPhenotypeGene Expression RegulationSignal transductionStem cellCell agingReceptors Transforming Growth Factor betaSignal TransductionTranscription FactorsProceedings of the National Academy of Sciences of the United States of America
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Concensus Rorschach interaction patterns of families with an asthmatic child

1987

This paper reports a study of interaction in families with a child suffering from bronchial asthma. Eighteen families, subdivided into two groups according to the severity of the child's illness, were given the Consensus Rorschach following Willi's procedure. Quantitative assessments of family members on cognitive-affective functioning and social interaction were obtained. Factor analysis of quantitative scores revealed diversified interactional strategies among family member groups. Families as wholes varied as to patterns of cross-generational alliances and/or domination of different family members and could be clustered into four interactional pattern groups. There was no correlation bet…

Clinical PsychologyFamily memberSocial PsychologyPsychologyPsychosomatic illnessSocial Sciences (miscellaneous)Social relationRorschach testDevelopmental psychologyJournal of Family Therapy
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A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report

2021

Abstract Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.). There are two main types of these disorders – hidrotic and hypohidrotic/anhidrotic ectodermal dysplasias. Hypohidrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome (OMIM: 305100 ) occurs in 1 out of 5000–10,000 births [19] and has an X-linked recessive inheritance pattern (X-linked hypohydrotic ectodermal dysplasia – XLHED) [2] . The main cause of XLHED is a broad range of pathogenic variants in the EDA gene (HGNC:3157, Xq12-13) which encodes the transmembrane protein ectodysplasin-A [4]…

Ectodermal dysplasiaMedicine (General)QH301-705.5Case ReportEctodermal dysplasiaBiologyEndocrinologyR5-920Recessive inheritanceGeneticsmedicineHypohidrotic ectodermal dysplasiaAlleleBiology (General)Molecular BiologyX-linked recessive inheritanceGenetic testingGeneticsmedicine.diagnostic_testPGT-MXLHEDmedicine.diseaseFamily memberChrist-Siemens-Touraine syndromeEctodysplasin AEDAX-linked recessive disorderMolecular Genetics and Metabolism Reports
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Genetic background in nonalcoholic fatty liver disease: A comprehensive review

2015

In the Western world, nonalcoholic fatty liver disease (NAFLD) is considered as one of the most significant liver diseases of the twenty-first century. Its development is certainly driven by environmental factors, but it is also regulated by genetic background. The role of heritability has been widely demonstrated by several epidemiological, familial, and twin studies and case series, and likely reflects the wide inter-individual and inter-ethnic genetic variability in systemic metabolism and wound healing response processes. Consistent with this idea, genome-wide association studies have clearly identified Patatin-like phosholipase domain-containing 3 gene variant I148M as a major player i…

Genetic MarkersCandidate geneGenome-wide association studieHeredityPatatin-like phospholipase domain-containing 3Genome-wide association studyDiseaseReviewBiologymedicine.disease_causeGeneticNon-alcoholic Fatty Liver DiseaseRisk FactorsHeredityNonalcoholic fatty liver diseasemedicineHumansNonalcoholic fatty liver diseaseGenetic Predisposition to DiseaseGenetic variabilityGenetic associationGeneticsFatty liverGastroenterologyGenetic VariationGeneral Medicinemedicine.diseaseCandidate gene studiePedigreePhenotypeNonalcoholic steatohepatitiTransmembrane 6 superfamily member 2Candidate gene studies; Genetics; Genome-wide association studies; Nonalcoholic fatty liver disease; Nonalcoholic steatohepatitis; Patatin-like phospholipase domain-containing 3; Transmembrane 6 superfamily member 2Genome-Wide Association Study
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Evidence against linkage of schizophrenia to chromosome 5q11-q13 markers in systematically ascertained families.

1992

Ten pedigrees systematically ascertained in Germany were tested for linkage to chromosome 5q11-q13. In order to replicate the previous report by Sherrington et al (1988), families with a bipolar family member were omitted from the lod score calculations, all diagnoses were based upon Research Diagnostic Criteria, and four different models of the affection status were calculated, including the model for which Sherrington et al calculated the highest lod scores. None of the families investigated showed a positive lod score. Using multipoint linkage analyses, we were able to exclude the region for which a positive linkage has been reported.

Linkage (software)GeneticsGenetic Markerscongenital hereditary and neonatal diseases and abnormalitiesGenetic LinkageResearch Diagnostic CriteriaPedigree chartmedicine.diseaseFamily memberChromosome (genetic algorithm)Psychotic DisordersSchizophreniamedicineSchizophreniaChromosomes Human Pair 5HumansFamilyLymphocytesLod ScorePsychologyBiological PsychiatryLod scoresLod scoreBiological psychiatry
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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Effectiveness of direct contact intervention with people with mental illness to reduce stigma in nursing students

2019

People with mental illnesses are at a higher risk than the general population of suffering from somatic diseases. However, they receive less attention from healthcare services. Some studies have indicated that this situation can be partially explained by the stigmatizing attitudes of health professionals, including nurses. With the objective to improve future nursing professionals’ attitudes towards people with mental illnesses, an intervention involving direct contact with people who had lived experience with mental illnesses was designed and its effectiveness was measured. It consisted of a single 90-min session involving a mental health professional, a person with a mental illness, and a…

MaleAttitude of Health PersonnelServicio de saludmedia_common.quotation_subjectPopulationPsychiatric NursingCompassionSalud mentalYoung Adult03 medical and health sciences0302 clinical medicineNursingSurveys and QuestionnairesHealth careHealth knowledgeMental illnessesmedicineHumansSíntomas sin explicación médicaeducationmedia_commonPracticeStereotypingeducation.field_of_study030504 nursingbusiness.industryMental DisordersLived experienceEducational interventionMental illnessmedicine.diseaseMental health030227 psychiatryStigmaFamily memberFeelingAttitudesEnfermeríaFemaleStudents NursingNursing studentsPshychiatric Mental HealthNurse-Patient Relations0305 other medical sciencebusinessPsychologyEnfermedad mental
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