Search results for "gaucher"
showing 10 items of 31 documents
Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case.
2022
Gaucher disease is a disorder of lysosomes caused by a functional defect of the glucocerebrosidase enzyme. The disease is mainly due to mutations in the GBA1 gene, which determines the gradual storage of glucosylceramide substrate in the patient’s macrophages. In this paper, we describe the case of a 38-year-old man who clinically presented with hyperferritinemia, thrombocytopenia, leukopenia, anemia and mild splenomegaly; a diagnosis of hemochromatosis was made 10 years earlier. Re-evaluation of the clinical case led to a suspicion of Gaucher disease, which was confirmed by enzymatic analysis, which was found to be below the normal range, and genetic evaluation, which identified compound h…
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
2013
Background: Gaucher disease (GD) is the most common inherited lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1). GD is clinically heterogeneous and although the type of GBA1 mutation plays a role in determining the type of GD, it does not explain the clinical variability seen among patients. Cumulative evidence from recent studies suggests that GBA2 could play a role in the pathogenesis of GD and potentially interacts with GBA1. Methods: We used a framework of functional and genetic approaches in order to further characterize a potential role of GBA2 in GD. Glucosylceramide (GlcCer) levels in spleen, liver and brain…
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physici…
2017
Gaucher disease (GD) is a rare hereditary disorder caused by a deficiency of the lysosomal enzyme β-glucocerebrosidase. Diagnosis is challenging owing to a wide variability in clinical manifestations and severity of symptoms. Many patients may experience marked delays in obtaining a definitive diagnosis. The two surveys reported herein aimed to explore the patient journey to diagnosis of GD from the perspectives of Gaucher expert physicians and patients. Findings from the surveys revealed that many patients experienced diagnostic delays and misdiagnoses, with nearly 1 in 6 patients stating that they were not diagnosed with GD for 7years or more after first consulting a doctor. Physicians an…
Gaucher's disease: therapy by intravenous infusions of modified glucocerebrosidase
1993
Early access experience with VPRIV®: Recommendations for ‘core data’ collection
2011
16P How to translate what we learned from Gaucher’s disease into new treatments for brain tumours
2021
Evaluation of the effect of chance correlations on variable selection using Partial Least Squares -Discriminant Analysis
2013
Variable subset selection is often mandatory in high throughput metabolomics and proteomics. However, depending on the variable to sample ratio there is a significant susceptibility of variable selection towards chance correlations. The evaluation of the predictive capabilities of PLSDA models estimated by cross-validation after feature selection provides overly optimistic results if the selection is performed on the entire set and no external validation set is available. In this work, a simulation of the statistical null hypothesis is proposed to test whether the discrimination capability of a PLSDA model after variable selection estimated by cross-validation is statistically higher than t…
Gošē slimības skrīnings pacientiem ar splenomegāliju, hepatomegāliju un trombocitopēniju
2018
Ievads. Gošē slimība ir viena no visbiežāk sastopamajām lizosomālās uzkrāšanās slimībām. Tās manifestēšanās vecuma un klīniskās ainas dažādības dēļ ir apgrūtināta slimības laicīga diagnostika. Mērķtiecīga slimības diagnostika ļautu laicīgi atpazīt skartos indivīdus un uzsākt nepieciešamo ārstēšanu, izvairoties no komplikācijām. Mērķis. Skrīnēt pacientus ar splenomegāliju, hepatomegāliju un/vai trombocitopēniju lai atklātu Gošē slimību un noteiktu tās izplatību Latvijas populācijā. Metodes. Darba ietvaros tika veikts prospektīvs pētījums, kura laikā RAKUS stacionāra LIC nodaļās tika atlasīti 100 pacienti ar splenomegāliju, hepatomegāliju un/vai trombocitopēniju. Pacientu nodotajos sausā asin…
Monitorización e individualización posológica de glucocerebrosidasa en pacientes con enfermedad de Gaucher Tipo I
2018
La enfermedad de Gaucher tipo I (EG1) es una enfermedad de depósito lisosomal causada por una deficiencia de la enzima glucocerebrosidasa, cuyo tratamiento consiste en la reposición mediante la administración exógena de la enzima deficiente, denominada terapia enzimática sustitutiva(TES). Actualmente, existe una gran controversia y una elevada variabilidad en la dosificación de la TES y en los regímenes utilizados en la práctica clínica debido a la amplia variabilidad observada en la respuesta a la TES; además las modificaciones de dosis para objetivar respuesta al tratamiento se alargan entre 12-24 meses, en una terapia con un elevado impacto económico al sistema nacional de salud. Sin emb…
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A…
2006
Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann–Pick disease type A/B) and Niemann–Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children ≤ 10 years of age with visceral organomegaly (hepatomegaly, splenomegaly, or hepatosplenomegaly) in whom a storage disorder was suspected. We conducted a retrospective, cross-sectional, referral, single-centre study to assess diagnostic test properties in 106 individuals. Median chitotriosidase activity was 12 655 nmol/h per ml (interquartile range 4693–20982) in Gaucher disease (GD); 78…