Search results for "lobo"
showing 10 items of 83 documents
Quantification of the Fabry marker lysoGb3 in human plasma by tandem mass spectrometry
2011
Morbus Fabry is a hereditary metabolic disorder with low prevalence and late clinical manifestation. A defect in the α-galactosidase gene leads to lysosomal accumulation of the glycolipid globotriaosylceramide (Gb3). Gb3 may be used for monitoring of enzyme replacement therapy (ERT), but diagnostic sensitivity is limited. Recently, globotriaosylsphingosine (lysoGb3) was introduced as a promising new marker with significantly better sensitivity. For Fabry diagnosis, clinical studies and possible therapy monitoring, we established a fast and reliable LC-MS/MS assay for quantification of lysoGb3 in human plasma. Protein precipitation and glycolipid extraction from EDTA plasma was performed usi…
De novo mutation in a male patient with Fabry disease: a case report
2014
Abstract Background Fabry disease is an X-linked inherited metabolic condition where the deficit of the α-galactosidase A enzyme, encoded by the GLA gene, leads to glycosphingolipid storage, mainly globotriaosylceramide. To date, more than 600 mutations have been identified in human GLA gene that are responsible for FD, including missense and nonsense mutations, small and large deletions. Such mutations are usually inherited, and cases of de novo onset occur rarely. Case presentation In this article we report an interesting case of a 44-year-old male patient suffering from a severe form of Fabry disease, with negative family history. The patient showed signs such as cornea verticillata, ang…
Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS).
2019
Fabry's disease (FD) is an X-linked lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A) leading to intracellular accumulation of globotriaosylceramide (Gb3). Patients with amenable mutations can be treated with migalastat, a recently approved oral pharmacologic chaperone to increase endogenous alpha-Gal A activity. We assessed safety along with cardiovascular, renal, and patient-reported outcomes and disease biomarkers in a prospective observational multicenter study after 12 months of migalastat treatment under real-world conditions. Fifty-nine (28 females) patients (34 (57.6%) pretreated with enzyme replacement therapy) w…
Fabry disease: overall effects of agalsidase alfa treatment
2004
Background Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A. Progressive accumulation of the substrate globotriaosylceramide in cells throughout the body leads to major organ failure and premature death. The Fabry Outcome Survey (FOS) is a European outcomes database which was established to collect data on the natural history of this little-known disease and to monitor the long-term efficacy and safety of enzyme replacement therapy (ERT) with agalsidase alfa. This paper presents the first analysis of the FOS database on the effects of ERT on renal function, heart size, pain and quality of life. Design The effects of 1 and 2 y…
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
2013
Globotriaosylceramide concentrations were assessed as potential predictors of change from baseline after 12 months by estimated glomerular filtration rate and left-ventricular mass index using pooled data from three randomized, placebo-controlled agalsidase alfa trials and open-label extensions of patients with Fabry disease.Males (aged 18 years or older) with Fabry disease received agalsidase alfa (0.2 mg/kg every other week for 12 months). A backward-elimination approach evaluated potential predictors (baseline estimated glomerular filtration rate and left-ventricular mass index; age at first dose; baseline and change from baseline at 12 months of globotriaosylceramide (urine, plasma); ur…
Successful pregnancy and childbirth after intracytoplasmic sperm injection with calcium ionophore oocyte activation in a globozoospermic patient
2007
Objective To check the effectiveness of intracytoplasmic sperm injection (ICSI) combined with assisted oocyte activation (AOA) in a globozoospermic patient. Design Case report. Setting Instituto Valenciano de Infertilidad, Valencia, Spain. Patient(s) A patient with globozoospermia. Intervention(s) ICSI was administered in 14 oocytes. ICSI combined with AOA, in which a small amount of calcium was injected followed by calcium ionophore exposure, was done in 9 oocytes. Main Outcome Measure(s) Fertilization rate and embryo quality was assessed in both groups. Result(s) Chemical activation increased fertilization rate (55.6% vs. 35.7%) and the number of embryos with less multinucleation on day 2…
Distribution, floristic structure and habitat requirements of the riparian forest community Populetum talassicae ass. nova in the Central Pamir-Alai …
2013
This paper discusses the floristic structure, distribution and habitat requirements of a new forest syntaxon, <em>Populetum talassicae </em>ass. nova. The potential range of the <em>Populetum talassicae </em>association comprises the central Pamir-Alai and Tian-Shan Mountains in Middle Asia. The biotope of this community comprises high mountain river valleys and shore zones of mountain lakes situ- ated at elevations between 2200 and 2750 m. Phytocoenoses of the <em>Populetum talassicae </em>association are characterized by a clear predominance in the tree layer of a characteristic species of the association ‒ <em>Populus talassica</em>. Shrubs…
Anderson-Fabry Disease: A Multiorgan Disease
2013
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency of the enzyme α-galactosidase A . FD causes glycolipids, such as globotriaosylceramide (Gb3), to accumulate in the vascular endothelium of several organs (fig.2), including the skin, kidneys, nervous system, and heart, thereby triggering inflammation and fibrosis . These processes generally result in organ dysfunction, which is usually the first clinical evidence of FD. Patients with classic FD have various symptoms, eg, acroparesthesias, hypohidrosis, angiokeratomas, corneal opacities, cerebrovascular lesions, cardiac disorders, andrenal dysfunction.However, evolving knowledge about the natural course o…
Study of the biochemical composition and physico-chemistry of a protein-based food model of Parkia biglobosa
2022
In West Africa, the seed of the cowpea (Parkia biglobosa) is used in traditional pharmacopoeia and especially in human food as a condiment. This legume is very rich in proteins and lipids and remains a poorly exploited source of protein. Our thesis focuses on the valorization of Néré seeds for the development of new protein-rich products of plant origin as an alternative to the use of soybean as a basic ingredient. The objectives were : (i)biochemical and physicochemical characterization of protein isolates from Néré seed flour according to the extraction process, (ii) selection of proteolytic lactic acid bacteria capable of fermenting Néré juice, reducing anti-nutritional factors in order …
Keys to world Charipinae (Hymenoptera, Cynipoidea, Figitidae)
2019
Eight genera of Charipinae are defined, keyed out, and illustrated. Keys for all charipine species within each valid genus, includingAlloxysta,Apocharips,Dilyta,Phaenoglyphis, andThoreauana, are presented, except forDilapothor,Lobopterocharips, andLytoxysta, which are monotypic. Figures are provided to show the diagnostic morphological features as used in the keys.