Clinical and molecular characterization of familial chylomicronemia in Saudi patients: a retrospective study.

Autor: Al-Ashwal A; Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., AlHelal M; Department of Pediatrics, Maternity and Children Hospital, AlAhsa, Saudi Arabia., AlSagheir A; Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Alfattani A; Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Ramzan K; Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Imtiaz F; Centre for Genomic Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia., Alhuthil R; Department of Pediatrics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Nov 14; Vol. 15, pp. 1439862. Date of Electronic Publication: 2024 Nov 14 (Print Publication: 2024).

Severe Lipemia Retinalis in an Infant with Autosomal Recessive Lipoprotein Lipase Deficiency.

Autor: Lo C; Department of Ophthalmology, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada; The Ottawa Hospital, University of Ottawa Eye Institute, Ottawa, Ontario, Canada., Liu V; Department of Ophthalmology, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada; The Ottawa Hospital, University of Ottawa Eye Institute, Ottawa, Ontario, Canada., O'Connor MD; Department of Ophthalmology, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada; The Ottawa Hospital, University of Ottawa Eye Institute, Ottawa, Ontario, Canada; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

Publikováno v: Ophthalmology [Ophthalmology] 2024 Oct; Vol. 131 (10), pp. 1224. Date of Electronic Publication: 2023 Nov 21.

Familial chylomicronemia: New perspectives.

Autor: Blanco Echevarría A; Servicio de Medicina Interna, Instituto de Investigación Biomédica, Hospital Universitario 12 de Octubre, Madrid, España., Ariza Corbo MJ; Departamento de Medicina y Dermatología, Laboratorio de Lípidos y Aterosclerosis, Centro de Investigaciones Médico Sanitarias (CIMES), Instituto de Investigación Biomédica de Málaga plataforma Bionand (IBIMA), Universidad de Málaga, Málaga, España., Muñiz-Grijalvo O; UCERV-UCAMI, Departamento de Medicina Interna, Hospital Universitario Virgen del Rocío, Sevilla, España., Díaz-Díaz JL; Unidad de Lípidos y Riesgo Cardiovascular, Servicio de Medicina Interna, Complejo Hospitalario Universitario de A Coruña, A Coruña, España. Electronic address: Jose.luis.diaz.diaz@sergas.es.

Publikováno v: Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis [Clin Investig Arterioscler] 2024 Dec; Vol. 36 Suppl 2, pp. S18-S24.

Long-term clinical outcomes and management of hypertriglyceridemia in children with Apo-CII deficiency.

Autor: Yoldas Celik M; Ege University, Medical Faculty, Department of Pediatric Metabolism and Nutrition, Izmir, Turkey. Electronic address: drmerveyoldas@yahoo.com., Canda E; Ege University, Medical Faculty, Department of Pediatric Metabolism and Nutrition, Izmir, Turkey., Yazici H; Ege University, Medical Faculty, Department of Pediatric Metabolism and Nutrition, Izmir, Turkey., Erdem F; Ege University, Medical Faculty, Department of Pediatric Metabolism and Nutrition, Izmir, Turkey., Yuksel Yanbolu A; Ege University, Medical Faculty, Department of Pediatric Metabolism and Nutrition, Izmir, Turkey., Atik Altinok Y; Ege University, Medical Faculty, Department of Pediatric Metabolism and Nutrition, Izmir, Turkey., Pariltay E; Ege University, Medical Faculty, Department of Medical Genetics, Izmir, Turkey., Akin H; Ege University, Medical Faculty, Department of Medical Genetics, Izmir, Turkey., Kalkan Ucar S; Ege University, Medical Faculty, Department of Pediatric Metabolism and Nutrition, Izmir, Turkey., Coker M; Ege University, Medical Faculty, Department of Pediatric Metabolism and Nutrition, Izmir, Turkey.

Publikováno v: Nutrition, metabolism, and cardiovascular diseases : NMCD [Nutr Metab Cardiovasc Dis] 2024 Jul; Vol. 34 (7), pp. 1798-1806. Date of Electronic Publication: 2024 Feb 17.

Olezarsen, Acute Pancreatitis, and Familial Chylomicronemia Syndrome.

Autor: Stroes ESG; From the Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, (E.S.G.S.); Ionis Pharmaceuticals, Carlsbad (V.J.A., E.K.-P., T.A.P., S.X., S.T.), and the Divisions of Endocrinology and Metabolism (J.L.W.) and Cardiovascular Medicine (S.T.), Department of Medicine, University of California, San Diego, La Jolla - both in California; the Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (R.A.H.); the Department of Translational and Precision Medicine, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome (M.A.); Baylor College of Medicine and the Texas Heart Institute, Houston (C.M.B.); the National Institute for Health Research and Wellcome Trust Clinical Research Facility, Manchester University Hospital NHS Foundation Trust, Manchester, United Kingdom (H.S.); and the Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York (H.N.G.)., Alexander VJ; From the Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, (E.S.G.S.); Ionis Pharmaceuticals, Carlsbad (V.J.A., E.K.-P., T.A.P., S.X., S.T.), and the Divisions of Endocrinology and Metabolism (J.L.W.) and Cardiovascular Medicine (S.T.), Department of Medicine, University of California, San Diego, La Jolla - both in California; the Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (R.A.H.); the Department of Translational and Precision Medicine, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome (M.A.); Baylor College of Medicine and the Texas Heart Institute, Houston (C.M.B.); the National Institute for Health Research and Wellcome Trust Clinical Research Facility, Manchester University Hospital NHS Foundation Trust, Manchester, United Kingdom (H.S.); and the Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York (H.N.G.)., Karwatowska-Prokopczuk E; From the Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, (E.S.G.S.); Ionis Pharmaceuticals, Carlsbad (V.J.A., E.K.-P., T.A.P., S.X., S.T.), and the Divisions of Endocrinology and Metabolism (J.L.W.) and Cardiovascular Medicine (S.T.), Department of Medicine, University of California, San Diego, La Jolla - both in California; the Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (R.A.H.); the Department of Translational and Precision Medicine, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome (M.A.); Baylor College of Medicine and the Texas Heart Institute, Houston (C.M.B.); the National Institute for Health Research and Wellcome Trust Clinical Research Facility, Manchester University Hospital NHS Foundation Trust, Manchester, United Kingdom (H.S.); and the Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York (H.N.G.)., Hegele RA; From the Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, (E.S.G.S.); Ionis Pharmaceuticals, Carlsbad (V.J.A., E.K.-P., T.A.P., S.X., S.T.), and the Divisions of Endocrinology and Metabolism (J.L.W.) and Cardiovascular Medicine (S.T.), Department of Medicine, University of California, San Diego, La Jolla - both in California; the Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (R.A.H.); the Department of Translational and Precision Medicine, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome (M.A.); Baylor College of Medicine and the Texas Heart Institute, Houston (C.M.B.); the National Institute for Health Research and Wellcome Trust Clinical Research Facility, Manchester University Hospital NHS Foundation Trust, Manchester, United Kingdom (H.S.); and the Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York (H.N.G.)., Arca M; From the Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, (E.S.G.S.); Ionis Pharmaceuticals, Carlsbad (V.J.A., E.K.-P., T.A.P., S.X., S.T.), and the Divisions of Endocrinology and Metabolism (J.L.W.) and Cardiovascular Medicine (S.T.), Department of Medicine, University of California, San Diego, La Jolla - both in California; the Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (R.A.H.); the Department of Translational and Precision Medicine, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome (M.A.); Baylor College of Medicine and the Texas Heart Institute, Houston (C.M.B.); the National Institute for Health Research and Wellcome Trust Clinical Research Facility, Manchester University Hospital NHS Foundation Trust, Manchester, United Kingdom (H.S.); and the Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York (H.N.G.)., Ballantyne CM; From the Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, (E.S.G.S.); Ionis Pharmaceuticals, Carlsbad (V.J.A., E.K.-P., T.A.P., S.X., S.T.), and the Divisions of Endocrinology and Metabolism (J.L.W.) and Cardiovascular Medicine (S.T.), Department of Medicine, University of California, San Diego, La Jolla - both in California; the Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (R.A.H.); the Department of Translational and Precision Medicine, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome (M.A.); Baylor College of Medicine and the Texas Heart Institute, Houston (C.M.B.); the National Institute for Health Research and Wellcome Trust Clinical Research Facility, Manchester University Hospital NHS Foundation Trust, Manchester, United Kingdom (H.S.); and the Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York (H.N.G.)., Soran H; From the Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, (E.S.G.S.); Ionis Pharmaceuticals, Carlsbad (V.J.A., E.K.-P., T.A.P., S.X., S.T.), and the Divisions of Endocrinology and Metabolism (J.L.W.) and Cardiovascular Medicine (S.T.), Department of Medicine, University of California, San Diego, La Jolla - both in California; the Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (R.A.H.); the Department of Translational and Precision Medicine, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome (M.A.); Baylor College of Medicine and the Texas Heart Institute, Houston (C.M.B.); the National Institute for Health Research and Wellcome Trust Clinical Research Facility, Manchester University Hospital NHS Foundation Trust, Manchester, United Kingdom (H.S.); and the Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York (H.N.G.)., Prohaska TA; From the Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, (E.S.G.S.); Ionis Pharmaceuticals, Carlsbad (V.J.A., E.K.-P., T.A.P., S.X., S.T.), and the Divisions of Endocrinology and Metabolism (J.L.W.) and Cardiovascular Medicine (S.T.), Department of Medicine, University of California, San Diego, La Jolla - both in California; the Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (R.A.H.); the Department of Translational and Precision Medicine, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome (M.A.); Baylor College of Medicine and the Texas Heart Institute, Houston (C.M.B.); the National Institute for Health Research and Wellcome Trust Clinical Research Facility, Manchester University Hospital NHS Foundation Trust, Manchester, United Kingdom (H.S.); and the Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York (H.N.G.)., Xia S; From the Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, (E.S.G.S.); Ionis Pharmaceuticals, Carlsbad (V.J.A., E.K.-P., T.A.P., S.X., S.T.), and the Divisions of Endocrinology and Metabolism (J.L.W.) and Cardiovascular Medicine (S.T.), Department of Medicine, University of California, San Diego, La Jolla - both in California; the Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (R.A.H.); the Department of Translational and Precision Medicine, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome (M.A.); Baylor College of Medicine and the Texas Heart Institute, Houston (C.M.B.); the National Institute for Health Research and Wellcome Trust Clinical Research Facility, Manchester University Hospital NHS Foundation Trust, Manchester, United Kingdom (H.S.); and the Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York (H.N.G.)., Ginsberg HN; From the Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, (E.S.G.S.); Ionis Pharmaceuticals, Carlsbad (V.J.A., E.K.-P., T.A.P., S.X., S.T.), and the Divisions of Endocrinology and Metabolism (J.L.W.) and Cardiovascular Medicine (S.T.), Department of Medicine, University of California, San Diego, La Jolla - both in California; the Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (R.A.H.); the Department of Translational and Precision Medicine, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome (M.A.); Baylor College of Medicine and the Texas Heart Institute, Houston (C.M.B.); the National Institute for Health Research and Wellcome Trust Clinical Research Facility, Manchester University Hospital NHS Foundation Trust, Manchester, United Kingdom (H.S.); and the Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York (H.N.G.)., Witztum JL; From the Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, (E.S.G.S.); Ionis Pharmaceuticals, Carlsbad (V.J.A., E.K.-P., T.A.P., S.X., S.T.), and the Divisions of Endocrinology and Metabolism (J.L.W.) and Cardiovascular Medicine (S.T.), Department of Medicine, University of California, San Diego, La Jolla - both in California; the Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (R.A.H.); the Department of Translational and Precision Medicine, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome (M.A.); Baylor College of Medicine and the Texas Heart Institute, Houston (C.M.B.); the National Institute for Health Research and Wellcome Trust Clinical Research Facility, Manchester University Hospital NHS Foundation Trust, Manchester, United Kingdom (H.S.); and the Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York (H.N.G.)., Tsimikas S; From the Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, (E.S.G.S.); Ionis Pharmaceuticals, Carlsbad (V.J.A., E.K.-P., T.A.P., S.X., S.T.), and the Divisions of Endocrinology and Metabolism (J.L.W.) and Cardiovascular Medicine (S.T.), Department of Medicine, University of California, San Diego, La Jolla - both in California; the Department of Medicine and Robarts Research Institute, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada (R.A.H.); the Department of Translational and Precision Medicine, Center for Rare Disorders of Lipid Metabolism, Sapienza University of Rome, Rome (M.A.); Baylor College of Medicine and the Texas Heart Institute, Houston (C.M.B.); the National Institute for Health Research and Wellcome Trust Clinical Research Facility, Manchester University Hospital NHS Foundation Trust, Manchester, United Kingdom (H.S.); and the Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York (H.N.G.).

Publikováno v: The New England journal of medicine [N Engl J Med] 2024 May 16; Vol. 390 (19), pp. 1781-1792. Date of Electronic Publication: 2024 Apr 07.