Search results for "Milia"
showing 10 items of 1060 documents
Efficacy and safety of lomitapide in familial chylomicronaemia syndrome
2022
Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder, resulting in elevated triglycerides (TGs), abdominal pain and pancreatitis. Treatment options are limited. Lomitapide, a microsomal triglyceride transfer protein inhibitor, is approved for the treatment of homozygous familial hypercholesterolaemia. Whether its therapeutic use may be extended to FCS remains unknown. The aim of this study was to evaluate the efficacy and safety of lomitapide in adult patients with FCS.The open-label, single-arm 'LOCHNES' study of lomitapide in FCS enrolled patients18 years with genetically confirmed FCS, elevated fasting TG ≥ 750 mg/dL and history of pancreatitis. Patients were a…
Six novel mutations of the LDL receptor gene in FH kindred of Sicilian and Paraguayan descent
2006
Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by mutations in the gene coding for the low density lipoprotein receptor (LDL-R). It is characterized by a high concentration of low density lipoprotein (LDL), which frequently gives rise to premature coronary artery disease. We studied the probands of five FH Sicilian families with 'definite' FH and one proband of Paraguayan descent with homozygous FH who has been treated with an effective living-donor liver transplantation. In order to seek the molecular defect in these six families, we used direct sequencing to define the molecular defects of the LDL-R gene responsible for the disease. We described three…
Familial adenomatosis polyposis-related desmoid tumours treated with low-dose chemotherapy: Results from an international, multi-institutional, retro…
2019
[Introduction] Desmoid tumour (DT) is a locally aggressive fibroblastic proliferative disease representing the most common extraintestinal manifestation of familial adenomatosis polyposis (FAP). As data on the activity of chemotherapy in these patients are limited, we examined the outcomes of patients treated with low-dose methotrexate (MTX)+vinca alkaloids (vinorelbine or vinblastine).
Plasma non-cholesterol sterols in primary hypobetalipoproteinemia
2011
Primary hypobetalipoproteinemia (pHBL) is characterized by plasma cholesterol levels ApoB48, and FHBL harbouring as yet unknown molecular defects. Not linked FHBL kindred are not homogeneous in terms of plasma NCS levels. NCS cannot replace genetic HBL analysis.
Adultescenti e giovani adulti. Aspetti educativi della famiglia “lunga”
2019
The essay starts as a reflection about the changes of the transition to adulthood in contemporary life, it is a presentation focusing on the issue of identity construction in relation to the structural variables that condition the lifestyle of the young adult and their relationship with the family of origin. The adult’s task is a generative task aimed to increase and develop the next generation; therefore, we speak about a task that delineates itself as essentially educational. However, the discussion allows to see an education requirement/emergency that is not only young people but also adults; there is a priority to educate the adult society to take and rewrite their generative role.
A combined electrophysiological and morphological examination of episodic memory decline in amnestic mild cognitive impairment.
2013
Early stages of Alzheimer’s disease (AD) are characterized by neuropathological changes within the medial temporal lobe cortex (MTLC), which lead to characteristic impairments in episodic memory, i.e., amnestic mild cognitive impairment (aMCI). Here, we tested the neural correlates of this memory impairment using event-related potentials (ERPs) and voxel-based morphometry. Twenty-four participants were instructed to encode lists of words and were tested in a yes/no recognition memory task. The dual-process model of recognition memory dissociates between acontextual familiarity and recollection of contextual details. The early frontal ERP old/new-effect, which is thought to represent a neura…
Les aides aux étudiants en France
1977
International audience
Mujer, poder político y democracia paritaria. “Mujer y representación política institucional en la Comunidad Valenciana. 1977-1995. 2 parte.
2014
Mujer, poder político y democracia paritaria. “Mujer y representación política institucional en la Comunidad Valenciana. 1977-1995. 2 parte. En esta segunda parte se recogen las mujeres que han formado parte de la Administración Local (alcaldesas, diputadas provinciales y FVMP), en los sindicatos, asi como en otras instituciones: Consell Valencià de Cultura, Consejo de Radiotelevisión Valenciana, Sindicatura de Agravios, Academia Valenciana de la Lengua, universidades, direcciones de partidos políticos, y otras organizaciones de la Comunidad Valenciana. “Mujer y representación política institucional en la Comunidad Valenciana. 1977-1995. Diputadas, ministras y cargos institucionales” es la …