A5073099833- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- Epilepsy research and treatment
- Amino Acid Enzymes and Metabolism
- RNA modifications and cancer
- Diet and metabolism studies
- Coenzyme Q10 studies and effects
- Antimicrobial Resistance in Staphylococcus
- Lysosomal Storage Disorders Research
- Pneumonia and Respiratory Infections
- Clinical Nutrition and Gastroenterology
- Folate and B Vitamins Research
- Neonatal and fetal brain pathology
- Pharmacological Effects and Toxicity Studies
- Neuroscience and Neuropharmacology Research
- Neonatal Health and Biochemistry
- Sphingolipid Metabolism and Signaling
- Advanced battery technologies research
- Streptococcal Infections and Treatments
- Liver Disease Diagnosis and Treatment
- Glycogen Storage Diseases and Myoclonus
- Peripheral Neuropathies and Disorders
- PI3K/AKT/mTOR signaling in cancer
- Biomedical Research and Pathophysiology
- RNA Research and Splicing
Hospital Universitario 12 De Octubre
2016-2025
Centre for Biomedical Network Research on Rare Diseases
2021-2025
Instituto de Investigación de Enfermedades Raras
2019-2024
Research Institute Hospital 12 de Octubre
2016-2023
Centro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas
2022
Instituto de Salud Carlos III
2021
Bambino Gesù Children's Hospital
2016-2019
Istituti di Ricovero e Cura a Carattere Scientifico
2016-2017
Abstract We present the results of our experience in diagnosis inborn errors metabolism (IEM) since Expanded Newborn Screening was implemented Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines quantitated by mass spectrometry (MS)/MS. Newborns with alterations referred to clinical centers for follow‐up. Biochemical molecular genetic studies confirmation a disease performed. In period 2011 2019, 592 822 children screened: 902 them abnormal results. An...
Primary mitochondrial diseases (PMDs) are common inborn errors of energy metabolism, with an estimated prevalence one in 4300. These disorders typically affect tissues high requirements, including heart, muscle and brain. Epilepsy may be the presenting feature PMD, can difficult to treat often represents a poor prognostic feature. The aim this study was develop guidelines consensus recommendations on safe medication use seizure management epilepsy.
This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease enable diagnosis, thus providing the key treatment, optimized care outcomes.Retrospective clinical chart review a series patients diagnosed with CLN2 from 2005 2015 at single center in Italy. Clinical, MRI, EEG findings were reviewed.A total 14 included. For whole group, median (range) age onset was 3.0...
Background/Objectives: The present study updates the Spanish registry of patients with urea cycle disorders (UCD), originally established in 2013, to provide comprehensive epidemiological data and evaluate impact therapeutic strategies newborn screening (NBS) on clinical outcomes. Methods: This retrospective, multicenter focuses 255 UCD patients. It includes all living deceased cases up February 2024, analyzing demographic, clinical, biochemical variables. Results: incidence Spain over past...
Abstract Objective To delineate the full phenotypic spectrum of BCS1L‐ related disease, provide better understanding genotype–phenotype correlations and identify reliable prognostic disease markers. Methods We performed a retrospective multinational cohort study previously unpublished patients followed in 15 centres from 10 countries. Patients with confirmed biallelic pathogenic BCS1L variants were considered eligible. Clinical, laboratory, neuroimaging genetic data analysed. stratified into...
The aims of this study were to analyze the characteristics patients with acute liver failure (ALF) in our center and evaluate prognostic value Pediatric End-Stage Liver Disease (PELD) score calculated at admission.A retrospective analysis ALF younger than 15 years between 2005 2013 was performed. Information collected included age, sex, etiology ALF, laboratory tests, PELD score, stage encephalopathy, need for support devices such as MARS and/or transplant (LT) survival. A poor prognosis...
We present the results of our experience in diagnosis and follow up positive cases for propionic, methylmalonic acidemias cobalamin deficiencies (PA/MMA/MMAHC) since Expanded Newborn Screening was implemented Madrid Region.Dried blood samples were collected 48 h after birth. Amino acids acylcarnitines quantitated by MS/MS. Newborns with alterations referred to clinical centers follow-up. Biochemical molecular genetic studies confirmation a disease performed.In period 2011-2020, 588,793...
To analyze host and pathogen factors related to disease severity of community-acquired bone joint infections in children, a cohort pediatric patients was prospectively recruited from 13 centers 7 European countries. A total 85 children were included, 11 (13%) had severe infection. Panton-Valentine leukocidin-positive isolates 17%, 6% the methicillin-resistant Staphylococcus aureus. Multivariate analysis identified leukocidin presence (adjusted odds ratio, 12.6; P = 0.01) as only factor...
Background and objectives: Glycerol phenylbutyrate (GPB) has demonstrated safety efficacy in patients with urea cycle disorders (UCDs) by means of its clinical trial program, but there are limited data practice. In order to analyze the GPB practice, here we present a national Spanish experience after direct switching from another nitrogen scavenger GPB. Methods: This observational, retrospective, multicenter study was performed 48 UCD (age 11.7 ± 8.2 years) 13 centers nine regions. Clinical,...
Abstract Objective Status epilepticus (SE) is the most common neurologic emergency in childhood. This study aimed to report on a large cohort of pediatric patients with SE, applying International League Against Epilepsy (ILAE) Classification for SE identify prognostic factors. Methods We included 173 children treated at “Bambino Gesù” Children's Hospital Rome exceeding 30 minutes (mean age 4.43 ± 4.93 years old, median 2.28, interquartile range [IQR] 0.41‐7.32; follow‐up mean 4.9 3.4 years,...
Abstract Primary mitochondrial diseases (PMD) account for a group of approximately 400 different genetic disorders with diverse clinical presentations and pathomechanisms. Although each individual disorder is rare, collectively they represent one the largest groups in field inherited metabolic disorders. The complexity PMD results continued lack therapeutic options, necessitating predominantly symptomatic treatment approach affected patients. While subset responds exceptionally well to...
The frequency of mitochondrial diseases (MD) has been scarcely documented, and only a few studies have reported data in certain specific geographical areas. In this study, we arranged nationwide call Spain to obtain global estimate the number cases. A total 3274 cases from 49 Spanish provinces were by 39 centres. Excluding duplicated unsolved cases, 2761 patients harbouring pathogenic mutations 140 genes recruited between 1990 2020. 508 exhibited nuclear DNA (75% paediatric patients) 1105...
We report a detailed clinical examination in patient with primary coenzyme Q10 deficiency caused by biallelic mutations the PDSS1 gene who presented features of mitochondrial encephalopathy associated pulmonary hypertension, livedo reticularis and particularly, chronic distal phalangeal erythema. Laboratory testing showed elevated plasma lactate 3-methyl-glutaconic tricarboxylic aciduria. Supplementation high dose was not effective to control disease progression died at age 3 years old...