Search results for "lobo"
showing 10 items of 83 documents
Globorotalia truncatulinoides in Central - Western Mediterranean Sea during the Little Ice Age
2020
Abstract Globorotalia truncatulinoides oscillations have been recorded from different marine sediment cores collected in the central and western Mediterranean Sea. The abundances of this species over the last 500 yrs. demonstrates its potential value as bio-indicator of particular oceanographic condition during the Maunder Minimum (MM) event of the Little Ice Age (LIA). The comparison between the G. truncatulinoides abundance patterns of the Balearic Basin, central and south Tyrrhenian Sea and central and eastern Sicily Channel allows to highlight a similar response of this species during the MM event in the central-western Mediterranean Sea. The ecological meanings of this species and its …
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus.
2021
International audience; Background: Recent years have witnessed a considerable increase in clinical trials of new investigational agents for Fabry disease (FD). Several trials investigating different agents are currently in progress; however, lack of standardisation results in challenges to interpretation and comparison. To facilitate the standardisation of investigational programs, we have developed a common framework for future clinical trials in FD.Methods and findings: A broad consensus regarding clinical outcomes and ways to measure them was obtained via the Delphi methodology. 35 FD clinical experts from 4 continents, representing 3389 FD patients, participated in 3 rounds of Delphi p…
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
2016
Item does not contain fulltext Verheij syndrome, also called 8q24.3 microdeletion syndrome, is a rare condition characterized by ante- and postnatal growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, developmental delay (DD), cardiac and renal defects and dysmorphic features. Recently, PUF60 (Poly-U Binding Splicing Factor 60 kDa), which encodes a component of the spliceosome, has been discussed as the best candidate gene for the Verheij syndrome phenotype, regarding the cardiac and short stature phenotype. To date, only one patient has been reported with a de novo variant in PUF60 that probably affects function (c.505C>T leading to p.(His169Tyr)) associated wi…
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
2019
Abstract Background Fabry disease is a rare, X-linked, lifelong progressive lysosomal storage disorder. Severely deficient α-galactosidase A activity in males is associated with the classic phenotype with early-onset, multisystem manifestations evolving to vital organ complications during adulthood. We assessed the ability of 2 low-dose agalsidase beta regimens to lower skin, plasma, and urine globotriaosylceramide (GL-3) levels, and influence clinical manifestations in male pediatric Fabry patients. Methods In this multicenter, open-label, parallel-group, phase 3b study, male patients aged 5–18 years were randomized to receive agalsidase beta at 0.5 mg/kg 2-weekly (n = 16) or 1.0 mg/kg 4-w…
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group
2017
Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infu…
Single nucleotide polymorphisms in A4GALT spur extra products of the human Gb3/CD77 synthase and underlie the P1PK blood group system.
2018
Contrary to the mainstream blood group systems, P1PK continues to puzzle and generate controversies over its molecular background. The P1PK system comprises three glycosphingolipid antigens: Pk, P1 and NOR, all synthesised by a glycosyltransferase called Gb3/CD77 synthase. The Pk antigen is present in most individuals, whereas P1 frequency is lesser and varies regionally, thus underlying two common phenotypes: P1, if the P1 antigen is present, and P2, when P1 is absent. Null and NOR phenotypes are extremely rare. To date, several single nucleotide polymorphisms (SNPs) have been proposed to predict the P1/P2 status, but it has not been clear how important they are in general and in relation …
Oxidative stress biomarkers in Fabry disease: is there a room for them?
2020
Abstract Background Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by deficient activity of the alpha-galactosidase A enzyme leading to progressive and multisystemic accumulation of globotriaosylceramide. Recent data point toward oxidative stress signalling which could play an important role in both pathophysiology and disease progression. Methods We have examined oxidative stress biomarkers [Advanced Oxidation Protein Products (AOPP), Ferric Reducing Antioxidant Power (FRAP), thiolic groups] in blood samples from 60 patients and 77 healthy controls. Results AOPP levels were higher in patients than in controls (p < 0.00001) and patients presented decreased levels of…
Mujer y representación política institucional en la Comunidad Valenciana. 1977-1995. Diputadas, ministras y cargos institucionales
2014
“Mujer y representación política institucional en la Comunidad Valenciana. 1977-1995. Diputadas, ministras y cargos institucionales” es la primera parte de un trabajo de documentación para un capítulo de “La democracia en la Comunidad Valenciana. Partidos, elites políticas, elecciones y programas políticos”. “Mujer, poder político y democracia paritaria”. Se recoge el papel de la mujer en la vida política de la Comunidad Valenciana en la democracia actual, desde 1977. Es documentación sin elaborar, pero que aporta datos de la presencia de la mujer en las instituciones, partidos y sindicatos. Cuando este completa será una parte de la investigación referida, y de la que ya hay dos publicacion…
Globorotalia truncatulinoides in the Mediterranean Basin during the Middle–Late Holocene: Bio-Chronological and Oceanographic Indicator
2022
The planktonic foraminiferal species Globorotalia truncatulinoides is widely used as a biostratigraphic proxy for the Quaternary in the Mediterranean region. High-resolution quantitative studies performed on sediment cores collected in the central and western Mediterranean Sea evidence a significant abundance of G. truncatulinoides during the Middle Holocene. The robust chronological frame allows us to date this bio-event to 4.8–4.4 ka Before Present (BP), very close to the base of the Meghalayan stage (4.2 ka BP). As a consequence, we propose that G. truncatulinoides can be considered a potential marker for the Middle–Late Holocene chronological subdivision. G. truncatulinoides is a deep-d…
Soluble-protein and antigenic heterogeneity in axenic Blastocystis hominis isolates: pathogenic implications.
1999
The protein profile and the antigenic cross-reactivity of 18 axenic isolates of Blastocystis hominis obtained from symptomatic patients with chronic diarrhea (14 isolates) showing no evidence of parasitic etiology and from patients with acute diarrhea attributable in 2 cases to Salmonella spp. were analyzed. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis of soluble proteins showed the existence of a common profile composed of 31 bands, with molecular weights ranging between 24 and >200 kDa, and minor differences in the proteins of 149, 118, 106, 50, 48, 47, and 30 kDa. These differences allowed us to classify the strains into three related patterns (I–III). In an indirect immunof…