Publications by authors named "Estella J"

Article Synopsis
  • The study investigates the effectiveness of targeted next generation sequencing (NGS) for identifying chromosomal abnormalities in patients with myeloid neoplasms using plasma cell-free DNA (cfDNA) samples from 2821 patients.
  • Results showed that 54.5% of samples had mutations associated with neoplasms, with distinct rates of abnormalities observed in myeloid (59%) and lymphoid (41%) neoplasms, and a strong concordance between cfDNA NGS results and traditional bone marrow cytogenetic data.
  • The research concludes that liquid biopsy through targeted NGS is a reliable method for detecting chromosomal abnormalities, potentially offering an alternative to invasive bone marrow biopsies for monitoring
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Transcranial direct current stimulation is one of the non-invasive techniques whose main mechanism of action is based on its modulation of cortical excitability. The objective of this study is to analyze the variables (i.e, demographics, clinicals, stimulation parameters) that could influence into the responses during rehabilitation of the upper extremity in patients with stroke.

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Until very recently, we considered Virtual Reality as something that was very close, but it was still science fiction. However, today Virtual Reality is being integrated into many different areas of our lives, from videogames to different industrial use cases and, of course, it is starting to be used in medicine. There are two great general classifications for Virtual Reality.

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Patients with chronic lymphocytic leukemia (CLL) that develop resistance to Bruton tyrosine kinase (BTK) inhibitors are typically positive for mutations in BTK or phospholipase c gamma 2 (PLCγ2). We developed a high sensitivity (HS) assay utilizing wild-type blocking polymerase chain reaction achieved via bridged and locked nucleic acids. We used this high sensitivity assay in combination with Sanger sequencing and next generation sequencing (NGS) and tested cellular DNA and cell-free DNA (cfDNA) from patients with CLL treated with the BTK inhibitor, ibrutinib.

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Introduction: Detection of mutations in the myeloid differentiation primary response gene 88 (MYD88) has clinical implications on diagnosis and therapy, especially in patients with Waldenström's macroglobulinemia (WM) and IgM monoclonal gammopathy of unknown significance (IgM-MGUS). We describe a method that provides greatly increased sensitivity for detecting minority mutations in MYD88.

Methods: We used a locked nucleic acid oligonucleotide to block amplification of wild-type DNA during polymerase chain reaction (PCR).

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Introduction: Human parainfluenza virus type 3 (HPIV-3) causes significant morbimortality in immunocompromised patients. Outbreaks of severe pneumonitis have been previously described in this setting.

Materials And Methods: Retrospective observational study in children diagnosed with acute leukemia and a documented HPIV-3 infection in the context of a nosocomial outbreak occurred in a single center.

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Central venous catheter (CVC) removal is indicated when persistent catheter-related bloodstream infection (CRBSI) occurs. This is a retrospective study to analyze the use of linezolid as a salvage therapy for CRBSIs due to coagulase-negative Staphylococci in children diagnosed with acute leukemia. Seven treatment courses of linezolid were administrated to six patients with port-type-CRBSI after non-effective intravenous vancomycin or teicoplanin treatment.

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The use of intensive chemotherapy and central devices has improved patients survival, but it is associated with catheter-related blood-stream infections (CRBSI). An educational program was instituted for preventing CRBSI occurrence in acute leukemia pediatric patients having totally implanted central devices. The Centers of Disease Control and Prevention criteria were used as definition for CRBSI.

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Fiber-optic sensors are increasingly used for the determination of volatile organic compounds (VOCs) in air matrices. This paper provides experimental results on the sensitivity of a fiber-optic sensor that uses a film of a porous silica xerogel as the sensing element. This film was synthesized by the sol-gel process and affixed to the end of the optical fiber by the dip-coating technique.

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Background And Objectives: Acute lymphoblastic leukemia (ALL) is the most frequent cancer in childhood, with cure rates of 80-85%. In T-cell ALL (15% of ALL), prognostic factors are ill defined. We aimed to describe the event-free survival (EFS) and analyze clinical prognostic factors in a series of pediatric T-ALL of 4 consecutive clinical trials.

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Recent advances in treatment for childhood acute lymphoblastic leukaemia (ALL) have significantly increased outcome. High-dose methotrexate (MTX) is the most commonly used regimen during the consolidation period, but the optimal dose remains to be defined. We investigated the usefulness of the MTHFR genotype to increase the MTX dosage in the consolidation phase in 141 childhood ALL patients enrolled in the ALL/SHOP-2005 protocol.

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Philadelphia-chromosome acute lymphoblastic leukaemia (Ph+ ALL) is a subgroup of ALL with very high risk of treatment failure. We report here the results of the Sociedad Española de Hematología y Oncología Pediátricas (SEHOP/SHOP) in paediatric Ph+ ALL treated with intermediate-dose imatinib concurrent with intensive chemotherapy. The toxicities and outcome of these patients were compared with historical controls not receiving imatinib.

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Fanconi anemia is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. To investigate the origin, functional role, and clinical impact of FANCA mutations, we determined a FANCA mutational spectrum with 130 pathogenic alleles. Some of these mutations were further characterized for their distribution in populations, mode of emergence, or functional consequences at cellular and clinical level.

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Background: Fanconi anaemia (FA) is a rare syndrome characterized by bone marrow failure, malformations and cancer predisposition. Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing agents such as diepoxybutane (DEB) or mitomycin C (MMC) is the 'gold standard' test for the diagnosis of FA.

Objective: To study the variability, the diagnostic implications and the clinical impact of chromosome fragility in FA.

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Regulation of alternative splicing is controlled by pre-mRNA sequences (cis-elements) and trans-acting protein factors that bind them. The combinatorial interactions of multiple protein factors with the cis-elements surrounding a given alternative splicing event lead to an integrated splicing decision. The mechanism of multifactorial splicing regulation is poorly understood.

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This paper describes the fabrication and performance of a range of highly sensitive luminescence-based oxygen sensor films based on the fluorinated sol-gel precursor 3,3,3-trifluoropropyltrimethoxysilane (TFP-TMOS). The oxygen-sensitive ruthenium complex [Ruthenium(II)-tris(4,7-diphenyl-1,10-phenanthroline)] dichloride, [Ru(dpp)(3)](2+) was entrapped in a wide range of ORMOSILs (organically modified silicates) matrices composed of alkyl and TFP-TMOS sol-gel precursors in different relative ratios. The influence of TFP-TMOS on sensor sensitivity, humidity-sensitivity and long-term stability was investigated and performance was compared to that of similar but non-fluorinated films.

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Pandemic influenza A (2009-H1N1) usually results in mild clinical illness, but in some individuals it can be life-threatening. There are no reports of this disease among paediatric patients with acute lymphoblastic leukaemia (ALL). We report ten consecutive patients with ALL and pandemic influenza treated in a single institution.

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We studied a series of 68 subjects diagnosed with childhood acute myeloid leukemia (AML) using conventional cytogenetics and fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR) to analyze mutations in FLT3 and NPM1 genes, and/or array comparative genomic hybridization (CGH). Cytogenetic/FISH abnormalities were observed in 71% of subjects, FLT3-ITD mutations in 15%, and NPM1 mutations in 13%. The array CGH alterations (average 3.

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Previous clinical trials based on the genetic correction of purified CD34(+) cells with gamma-retroviral vectors have demonstrated clinical efficacy in different monogenic diseases, including X-linked severe combined immunodeficiency, adenosine deaminase deficient severe combined immunodeficiency and chronic granulomatous disease. Similar protocols, however, failed to engraft Fanconi anemia (FA) patients with genetically corrected cells. In this study, we first aimed to correlate the hematological status of 27 FA patients with CD34(+) cell values determined in their bone marrow (BM).

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Introduction: The first multi-centric protocol for childhood acute lymphoblastic leukaemia (ALL) treatment in Spain started in 1989 and was conducted by the Spanish Pediatric Hematology and Oncology Societies.

Materials And Methods: A total of 673 patients were included in two consecutive trials, SHOP-89 (1989-1993) and SHOP- 94 (1994-1998). Approximately 67% of the children diagnosed with ALL in Spain during this period were enrolled in these trials.

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