A5010411679- Metabolism and Genetic Disorders
- Alcoholism and Thiamine Deficiency
- Amino Acid Enzymes and Metabolism
- Folate and B Vitamins Research
- Neurological and metabolic disorders
- Neurological diseases and metabolism
- Infectious Encephalopathies and Encephalitis
- Infant Nutrition and Health
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Genetics and Neurodevelopmental Disorders
- Celiac Disease Research and Management
- Microscopic Colitis
- Bacterial Infections and Vaccines
- Helicobacter pylori-related gastroenterology studies
- Diet and metabolism studies
- Neonatal Respiratory Health Research
- Neurological disorders and treatments
- RNA regulation and disease
- Magnesium in Health and Disease
- Nail Diseases and Treatments
- Glycogen Storage Diseases and Myoclonus
- Autoimmune Neurological Disorders and Treatments
- Heavy Metal Exposure and Toxicity
- Cancer Cells and Metastasis
Hospital Universitario La Paz
2023-2025
Hospital Sant Joan de Déu Barcelona
2015-2020
Instituto de Salud Carlos III
2013-2020
Centre for Biomedical Network Research on Rare Diseases
2013-2020
Institut de Recerca Sant Joan de Déu
2017-2020
Instituto de Investigación de Enfermedades Raras
2018-2019
Universitat de Barcelona
2008-2018
Sant Joan de Déu Research Foundation
2018
Institute for Research in Biomedicine
2015-2016
Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration thiamine and biotin has a dramatic immediate clinical effect. New biochemical markers are needed aid diagnosis timely therapeutic intervention. derivatives were analysed high performance liquid chromatography 106 whole blood 38 cerebrospinal fluid samples from paediatric controls, 16 patients with six whom harboured gene, 49 neurological disorders....
Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, high excretion organic acids that are specific thiamine‐dependent mitochondrial enzymes, mainly lactate, alpha‐ketoglutarate, branched chain keto‐acids. Undiagnosed untreated deficiencies often fatal or lead severe sequelae. Herein, we describe the clinical genetic characterization 79 patients inherited...
The SLC39A14, SLC30A10 and SLC39A8 are considered to be key genes involved in manganese (Mn) homeostasis humans. Mn levels plasma urine useful tools for early recognition of these disorders. We aimed explore further biomarkers deposition the central nervous system two siblings presenting with acute dystonia hypermanganesemia due mutations SLC39A14. These may help clinicians establish faster accurate diagnosis monitor disease progression after chelation therapy is administered. A customized...
Abstract The elevation of neopterin in cerebrospinal fluid (CSF) has been reported several neuroinflammatory disorders. However, it is not expected that alone can discriminate among different etiologies. We conducted an observational retrospective and case–control study to analyze the CSF biomarkers neopterin, total proteins, leukocytes a large cohort pediatric patients with samples from 277 subjects were included classified into four groups: Viral meningoencephalitis, bacterial meningitis,...
Celiac disease (CeD) is an autoimmune condition triggered by gluten in genetically predisposed individuals, affecting all ages. Intestinal permeability (IP) crucial the pathogenesis of CeD and it primarily governed tight junctions (TJs) that uphold intestinal barrier’s integrity. The protein zonulin plays a critical role modulating TJs having emerged as potential non-invasive biomarker to study IP. importance this lies providing evidence for usefulness tool IP both at baseline follow-up...
Aim To determine the prevalence of dopaminergic abnormalities in 1388 children with neurological disorders, and to analyse their clinical, neuroradiological, electrophysiological characteristics. Method We studied biogenic amines cerebrospinal fluid ( CSF ) samples from disorders (mean age 3y 10mo, SD 4y 5mo; 712 males, 676 females. Correlations among homovanillic acid HVA values other biochemical, parameters were analysed. Results Twenty‐one patients primary deficiencies identified. Of...
Rett Syndrome is a neurodevelopmental autism spectrum disorder caused by mutations in the gene coding for methyl CpG-binding protein (MeCP2). The disease characterized abnormal motor, respiratory, cognitive impairment, and autistic-like behaviors. No effective treatment of available. Mecp2 knockout mice have range physiological neurological abnormalities that resemble human syndrome can be used as model to interrogate new therapies. Herein, we show combined administration Levodopa...
Objective A high level of cerebrospinal fluid (CSF) neopterin is a marker central nervous system inflammatory-immune mediated processes. We aimed to assess data from 606 neuropediatric patients, describing the clinical and biochemical features those neurological disorders presenting CSF values above new cut-off value that was defined in our laboratory. Methods To establish value, we studied two groups patients: Group 1 comprised 68 patients with meningoencephalitis, 2 52 children confirmed...
The aim of this work was to establish the effect cis9,trans11 conjugated linoleic acid (CLA) isomer on mucosal immunity during early life in rats, a period when immunoglobulin production is poorly developed, as also case humans. CLA supplementation performed three periods: gestation, suckling, and infancy. immune status supplemented animals evaluated at two time points: end suckling (21-day-old rats) 1 week after weaning (28-day-old rats). Secretory IgA quantified intestinal washes from...
Cerebrospinal fluid (CSF) metabolomic investigations are a powerful tool for studying neurometabolic diseases. We aimed to assess the effect of CSF contamination with blood on concentrations selected biomarkers.CSF samples were spiked in duplicate increasing volumes whole under two conditions: (A) pooled fresh and frozen cause red cell (RBC) lysis; (B) centrifuged (the supernatant no RBCs was until moment analysis). amino acids, biogenic amines, pterins, vitamins analysed by HPLC coupled...
Patients with recessive dystrophic epidermolysis bullosa (RDEB) experience numerous complications, which are exacerbated by inflammatory dysregulation and infection. Understanding the immunological mechanisms is crucial for selecting medications that balance inflammation control immunocompetence. In this cross-sectional study, aiming to identify potential immunotherapeutic targets biomarkers, we delved into interrelationship between clinical severity systemic parameters in a representative...
Fortified human milk is the first choice for preterm infants. Although individualized fortification recommended, optimal method this population remains uncertain. We conducted a comparative study assessing growth effects of adjusted (AF) and targeted (TF) in extremely low birth weight (ELBW) This single-center, randomized, controlled clinical trial was at tertiary neonatal unit Spain. Eligible participants were premature infants with birthweight <1000g exclusively fed milk. A total 38...
Melatonin is synthesized from serotonin and it excreted as sulphatoxymelatonin in urine. We aim to evaluate urinary a biomarker of brain status cohort patients with mutations genes related biosynthesis. analized 65 healthy subjects 28 genetic defects. A total 18 were studied: 14 autosomal dominant recessive guanosine triphosphate cyclohydrolase-I deficiency; 3 sepiapterin reductase 1 aromatic L-amino acid decarboxylase deficiency. Further 11 studied after receiving serotoninergic treatment...