Search results for "homozygou"
showing 6 items of 26 documents
A novel therapeutic strategy to cure the Homozygous Familial Hypercholesterolemia with residual LDL receptor activity
2020
Long-term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia
2023
Introduction: Lomitapide is a microsomal triglyceride transfer protein inhibitor for patients with homozygous familial hypercholesterolaemia. Due to its mechanism of action, potential hepatic effects of lomitapide are of clinical interest. This study aimed to determine the long-term hepatic safety of lomitapide. Methods: Data were aggregated from the pivotal phase 3 and extension phase clinical trial with lomitapide (median 5.1 years; serum total bilirubin, transaminases, cytokeratin-18 [CK-18] and enhanced liver fibrosis [ELF] score, fat-soluble vitamins and essential fatty acids), 8-year data from the Lomitapide Observational Worldwide Evaluation Registry (LOWER) and real-world evidence f…
Anther culture in Citrus clementina: a way to regenerate tri-haploids
2005
Abstract. Regenerants from anther culture of Citrus clementina Hort. ex Tan. cvv. Nules, SRA 63, and Monreal were obtained in different experiments from 1994 to 2002. Genetic analysis of 37 such regenerants was carried out using 4 microsatellite markers that were heterozygous in the parental genotypes. The results showed that in all cases but one the regenerants carried only one or the other allele of the parental genotype, and were therefore homozygous and produced through a process of gametophytic embryogenesis. Ploidy analysis by flow cytometry of 94 regenerants showed that as many as 82% of them were tri-haploids, rather than haploids or doubled-haploids as expected, with other ploidy …
Molecular and cytological characterization of homozygous plants of Citrus clementina Hort. ex Tan., candidates to citrus genome sequencing. .
2010
Hipercolesterolemia familiar homocigota: adaptación a España del documento de posición del grupo de consenso sobre hipercolesterolemia familiar de la…
2015
Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening disease characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). The Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) has recently published a clinical guide to diagnose and manage HoFH (Eur Heart J. 2014;35:2146-57). Both the Spanish Society of Atherosclerosis (SEA) and Familial Hypercholesterolaemia Foundation (FHF) consider this European Consensus document of great value and utility. However, there are particularities in our country which advise to ha…
Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retr…
2021
Abstract Background Homozygous familial hypercholesterolemia (HoFH) is a rare life-threatening condition that represents a therapeutic challenge. The vast majority of HoFH patients fail to achieve LDL-C targets when treated with the standard protocol, which associates maximally tolerated dose of lipid-lowering medications with lipoprotein apheresis (LA). Lomitapide is an emerging therapy in HoFH, but its place in the treatment algorithm is disputed because a comparison of its long-term efficacy versus LA in reducing LDL-C burden is not available. We assessed changes in long-term LDL-C burden and goals achievement in two independent HoFH patients’ cohorts, one treated with lomitapide in Ita…