A5033622485- Lysosomal Storage Disorders Research
- Acute Myeloid Leukemia Research
- Cellular transport and secretion
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Mast cells and histamine
- Sphingolipid Metabolism and Signaling
- Glycosylation and Glycoproteins Research
- Hematological disorders and diagnostics
- Hemoglobinopathies and Related Disorders
- Autoimmune and Inflammatory Disorders Research
- Carbohydrate Chemistry and Synthesis
- Monoclonal and Polyclonal Antibodies Research
- Biomedical Research and Pathophysiology
- Cell Adhesion Molecules Research
- Eosinophilic Disorders and Syndromes
- Trypanosoma species research and implications
- Lymphoma Diagnosis and Treatment
- Immune Cell Function and Interaction
- Erythrocyte Function and Pathophysiology
- Calcium signaling and nucleotide metabolism
- Pancreatitis Pathology and Treatment
- Multiple Myeloma Research and Treatments
- Blood groups and transfusion
- Research on Leishmaniasis Studies
- Iron Metabolism and Disorders
Hospital Universitario Ramón y Cajal
2016-2025
Universidad de Alcalá
1997-2025
Instituto Ramón y Cajal de Investigación Sanitaria
2018-2024
Instituto Cajal
2016-2023
Children's Hospital at Montefiore
2021
Albert Einstein College of Medicine
2021
Palmetto Hematology Oncology
2021
Comunidad de Madrid
2013-2016
Sofia University "St. Kliment Ohridski"
2015
Hospital Universitario Infanta Sofía
2013
Type 1 (non-neuronopathic) Gaucher disease was the first lysosomal storage disorder for which an effective enzyme replacement therapy developed and it has become a prototype treatments related orphan diseases. There are currently four treatment options available to patients with disease, nevertheless, almost 25% of do not gain timely access because delays in diagnosis after onset symptoms. Diagnosis by testing is unequivocal, but rarity nonspecific heterogeneous nature symptoms may impede...
PurposeThis trial aimed to assess the efficacy and safety of olipudase alfa enzyme replacement therapy for non–central nervous system manifestations acid sphingomyelinase deficiency (ASMD) in adults.MethodsA phase 2/3, 52 week, international, double-blind, placebo-controlled (ASCEND; NCT02004691/EudraCT 2015-000371-26) enrolled 36 adults with ASMD randomized 1:1 receive or placebo intravenously every 2 weeks intrapatient dose escalation 3 mg/kg. Primary endpoints were percent change from...
From 1987 to 1995, a retrospective case study was conducted at the Ramon y Cajal Hospital in Madrid, Spain, public teaching hospital with 1,100 beds, determine clinicoepidemiologic characteristics, survival, and prognostic factors of patients visceral leishmaniasis (VL) human immunodeficiency virus (HIV) infection. The prevalence VL HIV+ compared HIV- studied. Epidemiologic, clinical, parasitologic as well effects treatment, prognosis, survival 54 (90 episodes) were defined. Comparative...
The goal of the present paper was to define immunophenotype bone marrow mast cells (BMMC) from healthy controls and patients with hematologic malignancies (HM) based on use multiple stainings monoclonal antibodies analyzed by flow cytometry. Our results show that BMMC both groups individuals display a similar but heterogenous immunophenotype. overall numbers are higher in HM group ( p = 0.08). Three patterns antigen expression were detected: (1) markers constantly positive all cases (CD9,...
The immunophenotypic characteristics of both bone marrow (BM) and peripheral blood (PB) mast cells (MC), from a patient suffering an aggressive systemic cell disease (SMCD), were sequentially analyzed by flow cytometry using direct immunofluorescence. Analysis was carried out at diagnosis, during clinical response induced interferon alfa-2b/prednisone therapy, later relapse. Our results show that together with the CD117 IgE characteristic markers, diagnosis BM MC showed strong expression CD...
Secondary haemophagocytic lymphohistiocytosis (sHLH) is characterised by a hyper activation of immune system that leads to multiorgan failure. It suggested excessive response in patients with COVID-19 could mimic this syndrome. Some autopsy studies have revealed the presence haemophagocytosis images bone marrow, raising possibility, along HScore parameters, sHLH.Our objective ascertain existence sHLH some severe COVID-19.We report histological findings 16 COVID-19, focusing on obtained from...
Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of deficiency (ASMD). The ASCEND randomized placebo-controlled trial in adults with ASMD demonstrated reductions sphingomyelin storage, organomegaly, interstitial lung disease and impaired diffusion capacity the (DLCO), during first year olipudase treatment. In an ongoing open-label extension trial, individuals placebo group crossed over to alfa, those...
Bcl-2 protein plays a major role in the prevention of programmed cell death differentiating cells. In present study, expression cytoplasmic bcl-2 by human Bone Marrow Mast Cells (BMMC) from both normal and pathological bone marrow samples was examined. A total 35 subjects corresponding to 9 healthy volunteers, 8 cases adult indolent systemic mast disease (SMCD), 4 pediatric mastocytosis (PM), 11 hematological malignancies (HM), 2 reactive marrow, 1 case leukemia (MCL) were analyzed. The...
Introduction: The differential diagnosis of splenomegaly is a complex process that encompasses wide variety diseases. Moreover, it not always standardized and lacks definitive consensus on which tests should be performed in what order. Gaucher disease (GD) acid sphingomyelinase deficiency (ASMD) are lysosomal diseases (LD) present with splenomegaly, the requires high index suspicion specific biochemical genetic techniques. aim project for education (PREDIGA) was to conduct educational...
Lysosomal storage diseases (LSD) are inherited caused by mutations affecting genes encoding the function of lysosomal enzymes. Acid sphingomyelinase deficiency (ASMD) is an ultra-rare, progressive, and often fatal LSD with estimated prevalence 1-in-50,000-250,000 individuals. The PrevASMD study established ASMD in Spain at 35 patients. Almost all present asymptomatic interstitial lung disease (ILD), since >90 % patients chronic visceral have radiographic evidence ILD. This case series aims...
Two samples of buffy coat from the peripheral blood 25 human immunodeficiency virus-positive patients with proven visceral leishmaniasis, as determined a bone marrow aspirate (stain and culture), were cultured onto Schneider's Novy-McNeal-Nicolle media. Hemoculture positivity was 67%. The average growing time 10 days. This is an easy, noninvasive, sensitive technique.
We have analysed the quantitative expression of surface CD69 antigen on human mast cells (MC), from both normal and pathological bone marrow (BM) samples, using flow cytometry. Our major aim was to analyse whether is constitutively expressed by BMMC explore possible differences between controls patients suffering different conditions. The constitutive clearly demonstrated in BMMC; however, systemic cell disease (SMCD) showed significantly higher levels than healthy ( P < 0.001), chronic...
In this study the expression of 'classically' considered lymphoid-associated antigens (CD2, CD3, CD4, CD5, CD7, CD8, CD10, CD19, CD20, and CD22) was explored both in peripheral blood (PB) bone marrow (BM) mast cells (MC) a case systemic cell disease (SMCD) by means using multiple stainings direct immunofluorescence technique. CD2 CD22 were expressed PB BM MC, all remaining markers negative. Our results suggest that reactivity for MC would be aberrant.
The quantitative measurement of the expression both cytoplasmic and surface CD63 antigen by human mast cells from normal pathological bone marrow samples was studied use flow cytometry. Our major goal to analyze whether in vivo could be useful discriminate patients with mastocytosis other conditions. For that purpose, a total 65 subjects corresponding 12 healthy volunteers, 25 B-cell chronic lymphoproliferative disorders, 5 reactive samples, 4 myelodysplastic syndromes, 19 were analyzed. is...
SUMMARY Human MM is a haematologic disorder characterized by the accumulation of malignant plasma cells (PC), primarily in bone marrow (BM). Although these characteristically home to BM, recent years several groups have detected presence related B peripheral blood (PB) which could be implicated progression and spread disease. However, proportion origin clonotypic circulating still controversial. In this study, using triple-staining flow cytometric procedure whole lysis method, PB lineage...
Gaucher disease (GD) is an autosomal recessive disorder produced by mutations in the glucocerebrosidase gene (GBA), causing storage of glucosylceramide reticuloendothelial cells multiple organs. Traditionally, prediction phenotype based on genotype has been reported to be limited.We investigated correlation between enzymatic residual activity (ERA) and at diagnosis 45 GD Spanish patients (44 with type I 1 III GD). The involved two following previously expressed proteins: c.517A > C (T134P),...
Abstract Background The significance of discrepant findings between histology (BMB) and flow cytometry (FC) in bone marrow (BM) examination at diffuse large B‐cell lymphoma (DLBCL) diagnosis is uncertain. Methods We performed a 5‐year retrospective single‐center study patients diagnosed by DLBCL not otherwise specified ( n = 82), divided into three groups according to BM infiltration diagnosis: BMB−/FC− (75.6%), BMB+/FC+ (13.4%), BMB−/FC+ (11%). Results Median FC analysis the group was 0.8%...