BackBrowsing by Author "Astigarraga Aguirre, María Iciar"
Now showing items 1-19 of 19
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A Three-Protein Panel to Support the Diagnosis of Sepsis in Children
(MDPI, 2022-03-12)Sepsis is a syndrome without a standard validated diagnostic test. Early recognition is crucial. Serum proteome analysis in children with sepsis may identify new biomarkers. This study aimed to find suitable blood biomarkers ... -
Benefits of early aggressive immunomodulatory therapy (tocilizumab and methylprednisolone) in COVID-19: Single center cohort study of 685 patients
(Elsevier, 2021)Introduction: A growing evidence suggests that immune dysregulation and thrombotic phenomena are key features in the pathophysiology of COVID-19. Apart from antivirals and respiratory support, anticoagulants, corticoids ... -
Burkitt-like lymphoma with 11q aberration: a germinal center-derived lymphoma genetically unrelated to Burkitt lymphoma
(Ferrata Storti Foundation, 2019-08-31)Burkitt-like lymphoma with 11q aberration is characterized by pathological features and gene expression profile resembling those of Burkitt lymphoma but lacks the MYC rearrangement and carries an 11q-arm aberration with ... -
CircRNAome of Childhood Acute Lymphoblastic Leukemia: Deciphering Subtype-Specific Expression Profiles and Involvement in TCF3::PBX1 ALL
Gutiérrez Camino, Ángela
; ; ; ; ; ; ; ; ; López López, Elixabet ; ; ; ; ; ; ; (MDPI, 2024-01-25)
Childhood B-cell acute lymphoblastic leukemia (B-ALL) is a heterogeneous disease comprising multiple molecular subgroups with subtype-specific expression profiles. Recently, a new type of ncRNA, termed circular RNA (circRNA), ... -
Clinical management of the acute complications of sickle cell anemia: 11 years of experience in a tertiary hospital
(Elsevier, 2022-07)Sickle cell disease is an emerging anemia in Europe leading to high morbidity with severe acute complications requiring hospital admission and chronic consequences. The management of these patients is complex and needs ... -
Confirmation of involvement of new variants at CDKN2A/B in pediatric acute lymphoblastic leukemia susceptibility in the Spanish population
Gutiérrez Camino, Ángela; ; ; ; ; ; ; García-Orad Carles, África (Public Library Science, 2017-05-08)
The locus CDKN2A/B (9p21.3), which comprises the tumor suppressors genes CDKN2A and CDKN2B and the long noncoding RNA (lncRNA) known as ANRIL (or CDKN2B-AS), was associated with childhood acute lymphoblastic leukemia (ALL) ... -
Diverse mutations and structural variations contribute to Notch signaling deregulation in paediatric T-cell lymphoblastic lymphoma
; ; ; ; ; ; ; ; ; ; Gutiérrez Camino, Ángela; ; ; ; ; ; ; ; ; ; ; ; ; ; (Wiley, 2022-11)
Background T-cell lymphoblastic lymphoma (T-LBL) is an aggressive neoplasm closely related to T-cell acute lymphoblastic leukaemia (T-ALL). Despite their similarities, and contrary to T-ALL, studies on paediatric T-LBL are ... -
Identificación de un panel de marcadores proteicos en la fase inicial de la sepsis y su validación en una cohorte de pacientes pediátricos con sepsis grave.
(2019-04-08)La sepsis se define como una disfunción orgánica potencialmente mortal producida por una respuesta desregulada del huésped a la infección. En ella, la respuesta inmune iniciada por el patógeno invasor no va a permitir que ... -
Identification and Functional Analysis of a Novel CTNNB1 Mutation in Pediatric Medulloblastoma
(MDPI, 2022-01-14)Medulloblastoma is the primary malignant tumor of the Central Nervous System (CNS) most common in pediatrics. We present here, the histological, molecular, and functional analysis of a cohort of 88 pediatric medulloblastoma ... -
Identification of a panel of serum protein markers in early stage of sepsis and its validation in a cohort of patients
Garcia-Obregon, Susana; ; Seijas, Iratxe; Pilar-Orive, Javier; Borrego, Francisco; ; Boyano López, María Dolores; Astigarraga Aguirre, María Iciar (Elsevier, 2018-08)
Background: Sepsis is a life-threatening illness with a challenging diagnosis. Current serum biomarkers are not sensitive enough for diagnosis. With the aim of finding proteins associated with sepsis, serum protein profile ... -
Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing
(Nature, 2023-02)Genetic predisposition is an important risk factor for cancer in children and adolescents but detailed associations of individual genetic mutations to childhood cancer are still under intense investigation. Among pediatric ... -
Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience
(MDPI, 2021-11-09)Abstract Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years ... -
Involvement of SNPs in miR-3117 and miR-3689d2 in Childhood Acute Lymphoblastic Leukemia Risk
Gutiérrez Camino, Ángela; ; Dolzan, Vita; Jazbec, Janez; Carbone Bañeres, Ana; García de Andoin Barandiaran, Nagore; Sastre, Ana; Astigarraga Aguirre, María Iciar; Navajas Gutiérrez, Aurora; García-Orad Carles, África (Board, 2018-04-01)
Acute lymphoblastic leukemia (ALL) is the most common cancer in children. Numerous studies have shown that microRNAs (miRNAs) could play a role in this disease. Nowadays, more than 2500 miRNAs have been described, that ... -
Langerhans cell histiocytosis. Advances in pathogenesis and clinical practice.
(Elsevier, 2022-08)Langerhans cell histiocytosis (LCH) is a type of myeloid neoplasia that can affect different organs or tissues and exhibits substantial variability in its clinical presentation and biological behaviour, so it may mimic ... -
NMR-based newborn urine screening for optimized detection of inherited errors of metabolism
(Nature Publishing, 2019-09-10)Inborn errors of metabolism (IEMs) are rare diseases produced by the accumulation of abnormal amounts of metabolites, toxic to the newborn. When not detected on time, they can lead to irreversible physiological and ... -
Reiterative Infusions of MSCs Improve Pediatric Osteogenesis Imperfecta Eliciting a Pro-Osteogenic Paracrine Response: TERCELOI Clinical Trial
(John Wiley & Sons, 2021-01-13)Background Osteogenesis imperfecta (OI) is a rare genetic disease characterized by bone fragility, with a wide range in the severity of clinical manifestations. The majority of cases are due to mutations in the COL1A1 or ... -
Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial
(Wiley, 2021-01-12)Background Osteogenesis imperfecta (OI) is a rare genetic disease characterized by bone fragility, with a wide range in the severity of clinical manifestations. The majority of cases are due to mutations in the COL1A1 or ... -
Results of A Phase 1 study of the oncolytic adenovirus DNX-2401 with radiotherapy for newly diagnosed diffuse intrinsic pontine glioma (DIPG)
(Oxford University Press, 2021-06-01)Background A Phase 1, single center study is ongoing to evaluate the conditionally replicative oncolytic adenovirus, DNX-2401 (tasadenoturev), followed by radiotherapy (RT) in pediatric patients with newly diagnosed ... -
Variants in vincristine pharmacodynamic genes involved in neurotoxicity at induction phase in the therapy of pediatric acute lymphoblastic leukemia
; Gutiérrez Camino, Ángela; ; ; ; ; García-Orad Carles, África (Springer, 2019-02-06)
Vincristine is an important drug of acute lymphoblastic leukemia (ALL) treatment protocols that can cause neurotoxicity. Patients treated with LAL/SHOP protocols often suffer from vincristine-related neurotoxicity in early ...