0000000000517020

AUTHOR

Colin D. Johnson

showing 4 related works from this author

Psychometric properties of the updated EORTC module for assessing quality of life in patients with lung cancer (QLQ-LC29): an international, observat…

2020

Abstract: Background The European Organisation for Research and Treatment of Cancer (EORTC) Quality of Life Questionnaire-Lung Cancer 13 (QLQ-LC13) assesses quality of life (QOL) in patients with lung cancer and was the first EORTC module developed for use in international clinical trials. Since its publication in 1994, major treatment advances with possible effects on QOL have occurred. These changes called for an update of the module and its international psychometric validation. We aimed to investigate the scale structure and psychometric properties of the updated lung cancer module, QLQ-LC29, in patients with lung cancer. Methods This international, observational field study was done in…

Malemedicine.medical_specialtyPsychometricsPsychometrics10255 Clinic for Thoracic SurgeryQUESTIONNAIRE610 Medicine & health03 medical and health sciences0302 clinical medicineCronbach's alphaQuality of lifeCarcinoma Non-Small-Cell LungSurveys and QuestionnairesMedicine and Health SciencesmedicineHumans030212 general & internal medicineVALIDITYLung cancerAgedLanguagebusiness.industryQLQ-C30CancerMiddle Agedmedicine.diseaseSmall Cell Lung CarcinomaTRENDShumanitiesConfirmatory factor analysisClinical trialOncology030220 oncology & carcinogenesisQuality of LifePhysical therapyFemaleObservational study2730 OncologyHuman medicinebusinessCLINICAL-TRIALS
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Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score".

2018

Familial chylomicronaemia syndrome (FCS) is a rare, inherited disorder characterised by impaired clearance of triglyceride (TG)-rich lipoproteins from plasma, leading to severe hypertriglyceridaemia (HTG) and a markedly increased risk of acute pancreatitis. It is due to the lack of lipoprotein lipase (LPL) function, resulting from recessive loss of function mutations in the genes coding LPL or its modulators. A large overlap in the phenotype between FCS and multifactorial chylomicronaemia syndrome (MCS) contributes to the inconsistency in how patients are diagnosed and managed worldwide, whereas the incidence of acute hypertriglyceridaemic pancreatitis is more frequent in FCS. A panel of Eu…

[SDV]Life Sciences [q-bio]Diagnosis toolpopulation030204 cardiovascular system & hematologyburdenapoa50302 clinical medicineLoss of Function MutationRisk FactorsChylomicrons030212 general & internal medicineAge of OnsetHypolipidemic AgentsBIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Interna medicina.Lipoprotein lipaseplasma triglycerideshyperlipoproteinemiaPrognosis3. Good healthUp-RegulationPhenotypeAcute pancreatitislipids (amino acids peptides and proteins)Hyperlipoproteinemia Type IAcute pancreatitis ; Familial chylomicronaemia syndrome ; Major hypertriglyceridaemia ; Multifactorial chylomicronaemiaCardiology and Cardiovascular MedicineFamilial chylomicronaemia syndromeAlgorithmsacute-pancreatitismedicine.medical_specialtyConsensushypertriglyceridemiaetiologyAcute pancreatitis; Familial chylomicronaemia syndrome; Major hypertriglyceridaemia; Multifactorial chylomicronaemia/Decision Support TechniquesDiagnosis Differential03 medical and health sciencesAcute pancreatitis; Familial chylomicronaemia syndrome; Major hypertriglyceridaemia; Multifactorial chylomicronaemia; Cardiology and Cardiovascular MedicinePredictive Value of TestsInternal medicinemedicineHumansGenetic Predisposition to DiseaseAcute pancreatitiBIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Internal Medicine.GenotypingTriglyceridesPregnancyReceiver operating characteristicbusiness.industrysevereMultifactorial chylomicronaemiaReproducibility of Resultsmutationslipoprotein-lipase genemedicine.diseaseConfidence intervalAcute pancreatitisLipoprotein LipasePancreatitisCardiovascular System & CardiologyPancreatitisMajor hypertriglyceridaemiabusinessBiomarkersAtherosclerosis
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Issues Affecting Quality of Life and Disease Burden in Lipoprotein Lipase Deficiency (Lpld) - First Step Towards a Pro Measure in Lpld

2015

Objectives: LPLD is an ultra-orphan genetic lipid disorder (prevalence 1-2/million). It is associated with severe hypertriglyceridemia and an increased risk of acute pancreatitis. Other manifestations include eruptive xanthoma, fatigue, difficulty with concentrating and cardiopulmonary symptoms. Associated symptoms, complications and the fat-restricted diet affect Quality of Life (QOL). Currently no disease-specific measure exists to assess QOL and the burden of LPLD. As part of post approval commitments of alipogene tiparvovec, regulatory bodies requested the development of a reliable measure of QOL in LPLD. This study evaluates existing EORTC questionnaires QLQ-C30 and QLQ-PAN26, and a ne…

Quality of lifemedicine.medical_specialtySettore MED/09 - Medicina Internabusiness.industryHealth PolicyMeasure (physics)Public Health Environmental and Occupational Healthmedicine.diseaseLPLDLipoprotein lipase deficiencyQuality of life (healthcare)medicineIntensive care medicinebusinessDisease burden
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Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FC…

2018

Data presented in this article are supplementary material to our article entitled "Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recom mendations and proposal of an "FCS Score" (Moulin et al., 2018, in press). The data describe the genotypes of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicro naemia syndrome (MCS), from the validation and replication cohorts.

Settore MED/09 - Medicina InternadiagnosisMEDLINE030209 endocrinology & metabolism030204 cardiovascular system & hematologyBioinformaticslcsh:Computer applications to medicine. Medical informatics03 medical and health sciencesfamilial chylomicronaemia syndrome diagnostic score0302 clinical medicineDiagnòsticDiagnosisMalalties hereditàriesscoreMedicinelcsh:Science (General)Genetics Genomics and Molecular BiologyMultidisciplinarybusiness.industryfamilial chylomicronaemia syndrome (FCS) multifactorial chylomicronaemia syndrome (MCS) diagnosis scorefamilial chylomicronaemia syndrome (FCS)Rare diseaseslcsh:R858-859.7lipids (amino acids peptides and proteins)Malalties rareschylomicronaemia syndrome ; multifactorial chylomicronaemia syndromebusinessmultifactorial chylomicronaemia syndrome (MCS)Genetic diseaseslcsh:Q1-390Data in Brief
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