Search results for "LPL"

showing 10 items of 45 documents

The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency

2017

International audience; A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera (R)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in …

0301 basic medicinePediatricsPathologySettore MED/09 - Medicina Interna[SDV]Life Sciences [q-bio]Familial hypercholesterolemiaDisease030204 cardiovascular system & hematologyGeneTHERAPY0302 clinical medicineFamilialRisk FactorsHyperchylomicronemiaAlipogene tiparvovecRegistriesFAMILIAL HYPERCHOLESTEROLEMIAmedia_commonHypertriglyceridemiaPrognosis3. Good healthNatural historySystematic reviewPhenotypeDISEASESSAFETYHyperlipoproteinemia Type ICardiology and Cardiovascular Medicinemedicine.medical_specialtyAPHERESISRegistryFamilial chylomicronemia syndromeGENIALLLysosomal acid lipase deficiencyLipid Metabolism Inborn Errors03 medical and health sciencesLipoprotein lipase deficiencyRare DiseasesGene therapychylomicronemia syndromemedicinemedia_common.cataloged_instanceHumansGenetic Predisposition to DiseaseEuropean unionLipoprotein lipase deficiency (LPLD)business.industryALIPOGENE TIPARVOVEC AAV1-LPLS447Xmedicine.diseaseAlipogene tiparvovecLipoprotein Lipase030104 developmental biologyOrphan diseasebusiness
researchProduct

Effect of total sonicated Aggregatibacter actinomycetemcomitans fragments on gingival stem/progenitor cells

2018

Background Aggregatibacter-actinomycetemcomitans (A.actinomycetemcomitans) are strongly associated with localized-aggressive-periodontitis (LAgP). The study’s aim was to test for the first time the effect of total sonicated A.actinomycetemcomitans-bacterial-fragments on gingival mesenchymal stem/progenitor cells’ (G-MSCs) proliferation and regenerative gene expression in-vitro. Material and Methods G-MSCs were isolated, characterized, expanded and stimulated by total sonicated A.actinomycetemcomitans-bacterial-fragments (0 (negative-control), 15, 60, 120 and 240µg/ml; serovar-b; n=6/group). Cellular proliferation and NF-κβ (NFKB1), Alkaline Phosphatase (ALPL), Collagen-I (COL1A1), Collagen-…

0301 basic medicineTime FactorsGingivaGene ExpressionComplex MixturesAggregatibacter actinomycetemcomitans03 medical and health sciencesSonication0302 clinical medicineGene expressionHumansRegenerationOsteopontinProgenitor cellGeneral DentistryCells CulturedCell ProliferationOral Medicine and PathologybiologyChemistryResearchStem CellsMesenchymal stem cellAggregatibacter actinomycetemcomitansALPL030206 dentistrybiology.organism_classification:CIENCIAS MÉDICAS [UNESCO]Molecular biology030104 developmental biologyOtorhinolaryngologyUNESCO::CIENCIAS MÉDICASbiology.proteinAlkaline phosphataseSurgeryOsteonectinMedicina Oral, Patología Oral y Cirugía Bucal
researchProduct

Measuring stress in clinical and nonclinical subjects using a German adaptation of the Perceived Stress Scale

2020

ANTECEDENTES/OBJETIVO: El estrés se percibe de manera diferente entre los individuos, lo que podría ser particularmente cierto para los sujetos no clínicos y clínicos. Por esta razón, probamos una adaptación alemana de la Perceived Stress Scale de 10 ítems (PSS-10) para el ajuste del modelo y la invarianza de la medición en una gran muestra clínica y no clínica. MÉTODO: Realizamos (1) un análisis factorial confirmatorio múltiple (CFA) en 1.248 sujetos no clínicos y 575 pacientes ambulatorios, (2) invarianza de medición con CFA multigrupo, (3) correlaciones con constructos relevantes y (4) cálculos de la consistencia interna para la escala general y las subescalas Desvalidez y Autoeficacia. …

050103 clinical psychologyOriginal articlePerceived Stress Scale050109 social psychologyLearned helplessnessAdaptation (eye)Análisis FactorialGermanClinical subjectsStress (linguistics)0501 psychology and cognitive sciencesMeasurement invarianceInvarianzaInstrumental study.05 social sciencesInvariancePerceived Stress ScalePacientes ; Instrumental study ; Invariance ; Clinical subjects ; Invarianza ; Estudio instrumental ; Factor analyses ; Perceived Stress Scale ; Análisis FactorialMental healthlanguage.human_languageConfirmatory factor analysisClinical PsychologyEstudio instrumental.languageFactor analysesPacientesPsychologyClinical psychologyInternational Journal of Clinical and Health Psychology : IJCHP
researchProduct

Mothers’ and fathers’ well-being, parenting styles, and their children’s cognitive and behavioural strategies at primary school

1998

One-hundred and five 6- to 7-year-old children were given a test measuring their helplessness, failure expectations, task-irrelevant behaviour, lack of persistence and search for social support in a classroom setting in order to examine the impact of parental well-being and parenting styles on the children’s cognitive and behavioural strategies at school. Both parents were also asked to fill in scales measuring their depression, parenting stress and parenting styles. The results revealed that maternal depressive symptomatology was associated with their children’s use of maladaptive strategies, whereas paternal depression was not. Moreover, maternal authoritative parenting styles and authori…

4. Education05 social sciences050301 educationEducational psychologySocial environmentLearned helplessnessCognitionChild developmentEducationDevelopmental psychologySocial supportWell-beingDevelopmental and Educational PsychologyParenting styles0501 psychology and cognitive sciencesPsychology0503 education050104 developmental & child psychologyClinical psychologyEuropean Journal of Psychology of Education
researchProduct

The development of achievement strategies and academic skills during the first year of primary school

2002

Abstract The aim of the study was to investigate whether children's achievement strategies would predict the development of their reading and mathematical skills during the first school year, or whether it is rather these skills that predict the changes in their achievement strategies. One-hundred and five 6- to 7-year-old children were examined three times during their first year of primary school: in each measurement, their self-reported achievement strategies were assessed, and their reading and mathematical skills were rated by their classroom teacher. Their overall cognitive competence was also measured before entry into school. The results showed that the use of maladaptive achievemen…

4. Educationmedia_common.quotation_subjecteducation05 social sciencesPrimary education050301 educationLearned helplessnessAcademic achievementbehavioral disciplines and activitiesEducationSkills managementDevelopmental psychologyAcademic skillsReading (process)Mathematical skillDevelopmental and Educational Psychology0501 psychology and cognitive sciencesSelf-handicappingPsychology0503 education050104 developmental & child psychologymedia_commonLearning and Instruction
researchProduct

A longitudinal study of psychosocial distress in breast cancer: prevalence and risk factors.

2011

This longitudinal study was conducted among 102 women with non-metastasic breast cancer to identify the time evolution and prevalence of distress at specific times through diagnosis and treatment of disease: preliminary diagnosis, surgery, definitive diagnosis and chemotherapy. Additionally, the study aimed to examine the role of demographic, medical and psychosocial factors on distress. The results indicated that prevalence of distress was higher at initial diagnosis (25%) than the following time points (approximately 17%). The differences inter-individuals in the levels of distress were observed over the four assessments. No relation between distress and demographic and medical factors wa…

AdultCoping (psychology)medicine.medical_specialtyLongitudinal studyLearned helplessnessBreast NeoplasmsDiseaseRisk AssessmentSocial supportBreast cancerRisk FactorsSurveys and QuestionnairesmedicinePrevalenceHumansLongitudinal StudiesProspective StudiesPsychiatryApplied PsychologyAgedPublic Health Environmental and Occupational HealthGeneral MedicineGeneral ChemistryMiddle Agedmedicine.diseaseDistressSpainFemalePsychologyPsychosocialStress PsychologicalClinical psychologyPsychologyhealth
researchProduct

Albumin versus solvent/detergent-treated pooled plasma as replacement fluid for long-term plasma exchange therapy in a patient with primary hypertrig…

2015

Chylomicronemia syndrome is a metabolic condition characterized by severe fasting hypertrigliceridemia (≥ 1000 mg/dL) and other clinical features including chronic abdominal pain and recurrent acute pancreatitis. In patients with acute or recurrent pancreatitis, plasma exchange (PEx) is indicated for the treatment of acute disease and prevention of recurrence. The use of plasma instead of albumin as replacement fluid has been suggested for its putative ability to replace the deficient enzyme possibly leading to better clinical improvement.A 40-year-old man with chylomicronemia syndrome due to a newly identified loss-of-function mutation in the lipoprotein lipase (LPL) gene (IVS2, c.250-1G/C…

AdultHypertriglyceridemiaMaleSettore MED/09 - Medicina InternaPancreatitisAlbuminsplasma exchangeDetergentsHumansPlasmapheresisLPLtriglycerides
researchProduct

Don't stress, it's under control: Neural correlates of stressor controllability in humans

2021

Abstract Animal research has repeatedly shown that control is a key variable in the brain's stress response. Uncontrollable stress triggers a release of monoamines, impairing prefrontal functions while enhancing subcortical circuits. Conversely, control over an adverse event involves prefrontally mediated downregulation of monoamine nuclei and is considered protective. However, it remains unclear to what extent these findings translate to humans. During functional magnetic resonance imaging, we subjected participants to controllable and uncontrollable aversive but non-painful electric stimuli, as well as to a control condition without aversive stimulation. In each trial, a symbol signalled …

AdultMaleCognitive NeuroscienceVentromedial prefrontal cortexPrefrontal CortexNeurosciences. Biological psychiatry. NeuropsychiatryStimulationLearned helplessnessContext (language use)Learned helplessnessHelplessness LearnedImage Processing Computer-AssistedmedicineHumansNeural correlates of consciousnessmedicine.diagnostic_testStressorTranslational researchMagnetic Resonance ImagingElectric Stimulationmedicine.anatomical_structureNeurologyFMRIFemaleVentromedial prefrontal cortexPsychologyFunctional magnetic resonance imagingNeuroscienceInsulaStress PsychologicalRC321-571NeuroImage
researchProduct

Reliability and validity study of the Finnish version of the Chronic Pain Acceptance Questionnaire (CPAQ).

2012

Acceptance has been discovered to be successful in improving quality of life when adjusting to chronic pain. Instead of avoiding and controlling the pain, the goal is to confront the pain and to live a value directed life. Thus far, there has not been an instrument in Finnish to assess the acceptance of chronic pain. This study aimed at translating the Chronic Pain Acceptance Questionnaire-(CPAQ)-into Finnish and assessing its reliability and validity.Eighty-one persons with different types of chronic pain responded to the CPAQ, the Beck Depression Inventory (BDI), RAND-36 and questions of sociodemographic and pain-related variables.The responders' ages varied from 16 to 83 years (mean = 48…

AdultMalemedicine.medical_specialtyAdolescentPsychometricsIntraclass correlationCultureAnxietySeverity of Illness IndexSocial supportYoung AdultQuality of lifeHelplessness LearnedSurveys and QuestionnairesSeverity of illnessAdaptation PsychologicalMedicineHumansYoung adultta515Reliability (statistics)Finlandta316AgedPain MeasurementAged 80 and overPsychiatric Status Rating Scalesbusiness.industryDepressionRehabilitationChronic painBeck Depression InventoryReproducibility of ResultsSocial Supportta3141Middle AgedTranslatingmedicine.diseaseSocioeconomic FactorsPhysical therapyQuality of LifeFemaleChronic PainbusinessAttitude to HealthDisability and rehabilitation
researchProduct

SELPLG Gene Polymorphisms in Relation to Plasma SELPLG Levels and Coronary Artery Disease

2003

P-selectin and P-selectin glycoprotein ligand (SELPLG, selectin P ligand) constitute a receptor/ligand complex that is likely to be involved in the development of atherosclerosis and its complications. While the genetic variability of P-selectin has already been investigated in depth, that of the SELPLG gene has not yet been extensively explored. The coding and regulatory sequences of the SELPLG were screened and nine polymorphisms were identified. The identified polymorphisms were genotyped in the AtheroGene study, a case-control study of coronary artery disease (CAD). Haplotype analysis revealed that two polymorphisms of SELPLG, the M62I and the VNTR, independently influenced plasma SELPL…

AdultMalemedicine.medical_specialtyP-selectinEnzyme-Linked Immunosorbent AssayCoronary Artery DiseaseBiologyLigandsPolymerase Chain ReactionCoronary artery diseaseGene FrequencySELPLG GeneInternal medicineGeneticsmedicineHumansGenetic variabilityReceptorGenePolymorphism Single-Stranded ConformationalTriglyceridesGenetics (clinical)GeneticsMembrane GlycoproteinsPolymorphism GeneticHaplotypemedicine.diseaseP-SelectinCholesterolEndocrinologyHaplotypesRegulatory sequenceFemaleAnnals of Human Genetics
researchProduct