Search results for "Genetic disease"
showing 4 items of 64 documents
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…
OXADIAZOLE DERIVATIVES FOR THE TREATMENT OF GENETIC DISEASES DUE TO NONSENSE MUTATIONS
2018
Are disclosed oxadiazole derivatives, their use as medicaments and in particular for the treatment of diseases associated with the presence of a nonsense mutation in the gene or a premature stop codon in the mRNA, pharmaceutical formulation comprising said oxadiazole derivatives and prodrug or mixture thereof and the methods for the preparation of said Oxadiazole derivatives.
Pycnodysostosis. A report of 3 clinical cases
2008
Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. It is a genetic disorder, usually diagnosed at an early age. However, the diagnosis is sometimes late, made as a result of bone fracture, given the severe bone fragility resulting from increased bone density. Oral and maxillofacial manifestations of this disease are very clear. The head is usually large, the nose beaked, the mandibular angle obtuse, and both maxilla and mandible hypoplastic. Dental abnormalities and impaction are observed, as well as alterations in eruption and frequent dental crowding. The differential diagnosis is established with osteopetrosis, cleidocranial dysplasia and idiopathic…
I nomi del male e i segni dell'eredità. Pensare, nominare e curare la malattia "genetica" dai Greci a noi
2019
Il volume indaga le radici storiche delle malattie che oggi definiamo genetiche e/o ereditarie, ponendo le premesse terminologiche e scientifiche che stanno a fondamento della riflessione moderna e contemporanea sulla malattia genetica, qui animata dal filo della continuità e della pur forte discontinuità con il pensiero antico. In tal senso, si presenta una retrospettiva storico-critica che, affondando le proprie radici nell’indagine lessicografica dei termini fondanti il pensiero embriogenetico moderno, interroga la validità storica ed epistemica di alcuni concetti e parole-chiave dell’era post-genomica, tra cui quello di causalità, o il rapporto tra natura e cultura, per toccare il nucle…