A5008282209- Iron Metabolism and Disorders
- Telomeres, Telomerase, and Senescence
- Hemoglobinopathies and Related Disorders
- COVID-19 and healthcare impacts
- Neonatal Health and Biochemistry
- RNA regulation and disease
- Immune Cell Function and Interaction
- Cell death mechanisms and regulation
- Mitochondrial Function and Pathology
- Immunodeficiency and Autoimmune Disorders
- Respiratory Support and Mechanisms
- RNA Interference and Gene Delivery
- Respiratory and Cough-Related Research
- Acute Myeloid Leukemia Research
- Pediatric health and respiratory diseases
- Metabolism and Genetic Disorders
- Infant Health and Development
- MicroRNA in disease regulation
- COVID-19 Clinical Research Studies
- Mesenchymal stem cell research
- RNA modifications and cancer
- Childhood Cancer Survivors' Quality of Life
- Autophagy in Disease and Therapy
Hospital Universitario Miguel Servet
2015-2023
Telomeres are nucleoprotein structures present at the terminal region of chromosomes. Mutations in genes coding for proteins involved telomere maintenance causative a number disorders known as telomeropathies. The genetic origin these diseases is heterogeneous and has not been determined significant proportion patients. This article describes characterization cohort Telomere length was by Southern blot quantitative PCR. Nucleotide variants were analyzed either high-resolution melting...
Abstract Purpose Whilst immunotherapy is an appealing option as it could reduce the burden of recurrent pediatric respiratory tract infections (RTI), there limited evidence on its effectiveness and more research was requested in order to better understand this therapeutic modality. Methods We performed a prospective cohort study involving 57 subjects assess safety 3-month regimen either typified or patient-specific bacterial lysates have reducing number RTIs children aged 0 11 years with...
GATA2 deficiency is a rare disorder of haematopoiesis, lymphatics and immunity caused by spontaneous or autosomal dominant mutations in the gene. Clinical manifestations range from neutropenia, lymphedema, deafness, to severe viral mycobacterial infections, bone marrow failure acute myeloid leukaemia. Patients also present with monocytopenia, dendritic cell, B- NK-cell deficiency. We studied T-cell compartments four deficient patients assess if changes these lymphocyte populations could be...
Dyskeratosis congenita (DC) is a multisystem and ultra-rare hereditary disease characterized by somatic involvement, bone marrow failure, predisposition to cancer. The main objective of this study describe the natural history DC through cohort patients diagnosed in childhood followed up for long period time.Multicenter, retrospective, longitudinal conducted 24 years since being (between 1998 2020).Fourteen were with between ages 3 17 (median, 8.5 years). They all had hematologic...
Pearson syndrome is a rare multisystem disease caused by single large-scale mitochondrial DNA deletions (SLSMDs). The presents early in infancy and mainly characterised refractory sideroblastic anaemia. Prognosis poor treatment supportive, thus the development of new models for study therapy strategies essential. In this work, we report three different cell carrying an SLMSD: fibroblasts, transmitochondrial cybrids induced pluripotent stem cells (iPSCs). All studied exhibited aberrant...
Screening of haemoglobinopathies is indicated for the detection sickle cell anaemia; thus, neonates can benefit from early and adequate treatment that prevents neurological damage, reduces morbidity mortality associated with disease. These types programmes sometimes lead to unexpected findings. We present a new haemoglobin (Hb) variant (Hb Miguel Servet) detected by newborn screening. During neonatal screening cation-exchange high-performance liquid chromatography (CE-HPLC) newborn, an Hb...
Introduction: Since the beginning of SARS-CoV-2 pandemic, it has been widely recognized that children and adolescents seem to have milder clinical courses as compared adult counterparts. However, there is concern vulnerable collectives including pediatric patients treated for cancer or under immunosuppression may be at higher risk.Aim Methods: We retrospectively collected Spanish COVID-19 cases in with solid hematological malignancies, non-malignant chronic hematologic conditions , post...