2020
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy
Jones SA, McGovern M, Lidove O, Giugliani R, Mistry PK, Dionisi-Vici C, Munoz-Rojas MV, Nalysnyk L, Schecter AD, Wasserstein M. Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy. Molecular Genetics And Metabolism 2020, 131: 116-123. PMID: 32616389, DOI: 10.1016/j.ymgme.2020.06.008.Peer-Reviewed Original ResearchConceptsAcid sphingomyelinase deficiencyDisease burdenLipid profilePrevalent clinical featuresRespiratory-related complicationsAtherogenic lipid profileAbnormal lipid profileProgressive lung diseaseLung diffusion capacityEnzyme replacement therapyRare lysosomal storage disorderDiverse disease spectrumDegree of abnormalityNiemann-Pick diseaseLysosomal storage disorderLung functionClinical featuresClinical parametersReplacement therapyChronic formClinical burdenLung diseaseNeurovisceral diseaseSpleen volumeLiver fibrosis
2015
Deficient serum 25-hydroxyvitamin D is associated with an atherogenic lipid profile: The Very Large Database of Lipids (VLDL-3) study
Lupton JR, Faridi KF, Martin SS, Sharma S, Kulkarni K, Jones SR, Michos ED. Deficient serum 25-hydroxyvitamin D is associated with an atherogenic lipid profile: The Very Large Database of Lipids (VLDL-3) study. Journal Of Clinical Lipidology 2015, 10: 72-81.e1. PMID: 26892123, PMCID: PMC4762185, DOI: 10.1016/j.jacl.2015.09.006.Peer-Reviewed Original ResearchConceptsLow-density lipoprotein cholesterolIntermediate-density lipoprotein cholesterolAtherogenic lipid profileLipoprotein cholesterolRemnant lipoprotein cholesterolLipid profileLipid panelHigh-density lipoprotein cholesterolMultivariable-adjusted linear regressionVitamin D supplementationHigher total cholesterolSerum vitamin DCardiovascular disease riskLow serum HDLBlood urea nitrogenCross-sectional studyMultivariable linear regressionAdditional outcome measurementD supplementationGlycemic statusLow HDLHemoglobin A1cTotal cholesterolKidney functionSerum HDL
2014
Plasma Lipoprotein(a) Levels Are Associated with Mild Renal Impairment in Type 2 Diabetics Independent of Albuminuria
Lin J, Reilly MP, Terembula K, Wilson FP. Plasma Lipoprotein(a) Levels Are Associated with Mild Renal Impairment in Type 2 Diabetics Independent of Albuminuria. PLOS ONE 2014, 9: e114397. PMID: 25490096, PMCID: PMC4260843, DOI: 10.1371/journal.pone.0114397.Peer-Reviewed Original ResearchConceptsPenn Diabetes Heart StudyGFR impairmentT2DM patientsRisk factorsModifiable CV risk factorsSingle-center observational cohortAtherogenic lipid profileCV risk factorsMild renal impairmentIndependent risk factorNormal renal functionWorse kidney functionType 2 diabeticsCKD-EPI equationDiabetes Heart StudyCross-sectional analysisLogistic regression modelsClinical CVDMild CKDCV diseaseRenal impairmentObservational cohortRenal functionCV preventionDiabetic counterparts
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