A5054323862- Genetic Syndromes and Imprinting
- Neonatal Respiratory Health Research
- Epigenetics and DNA Methylation
- Prenatal Screening and Diagnostics
- Infant Nutrition and Health
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Neonatal Health and Biochemistry
- Diabetes Management and Research
- Pregnancy and preeclampsia studies
- Birth, Development, and Health
- Antifungal resistance and susceptibility
- Pneumocystis jirovecii pneumonia detection and treatment
- HIV/AIDS oral health manifestations
- Child Nutrition and Water Access
- Breastfeeding Practices and Influences
- RNA modifications and cancer
- Pancreatic function and diabetes
- Fungal Infections and Studies
- Nail Diseases and Treatments
- Hemoglobinopathies and Related Disorders
- Gestational Diabetes Research and Management
- Clinical Nutrition and Gastroenterology
- Preterm Birth and Chorioamnionitis
- Platelet Disorders and Treatments
- Oral and gingival health research
Norfolk and Norwich University Hospital
2023-2025
Norfolk and Norwich University Hospitals NHS Foundation Trust
2024-2025
Institut de Recerca Sant Joan de Déu
2018-2024
Hospital Sant Joan de Déu Barcelona
2013-2023
Universitat de Barcelona
2008-2023
Red de Investigación en Actividades Preventivas y Promoción de la Salud
2020
University College London
2015
Sant Joan de Déu Research Foundation
2014
University Hospital Complex Of Vigo
2011-2013
RELX Group (Netherlands)
2010
Human aging cannot be fully understood in terms of the constrained genetic setting. Epigenetic drift is an alternative means explaining age-associated alterations. To address this issue, we performed whole-genome bisulfite sequencing (WGBS) newborn and centenarian genomes. The DNA had a lower methylation content reduced correlation status neighboring cytosine--phosphate--guanine (CpGs) throughout genome comparison with more homogeneously methylated DNA. hypomethylated CpGs observed compared...
Differential methylation between the two alleles of a gene has been observed in imprinted regions, where one allele occurs on parent-of-origin basis, inactive X-chromosome females, and at those loci whose is driven by genetic variants. We have extensively characterized substantial range normal human tissues, reciprocal genome-wide uniparental disomies, hydatidiform moles, using combination whole-genome bisulfite sequencing high-density microarrays. This approach allowed us to define profiles...
Studies involving adults and children being treated in intensive care units indicate that insulin therapy glucose control may influence survival. Hyperglycemia very-low-birth-weight infants is also associated with morbidity mortality. This international randomized, controlled trial aimed to determine whether early replacement reduced hyperglycemia affected outcomes such neonates.
Thousands of regions in gametes have opposing methylation profiles that are largely resolved during the post-fertilization epigenetic reprogramming. However some specific sequences associated with imprinted loci survive this demethylation process. Here we present data describing fate germline-derived humans. With exception a few known paternally methylated germline differentially (DMRs) domains, demonstrate sperm-derived is reprogrammed by blastocyst stage development. In contrast large...
Familial recurrent hydatidiform mole (RHM) is a maternal-effect autosomal recessive disorder usually associated with mutations of the NLRP7 gene. It characterized by HM excessive trophoblastic proliferation, which mimics appearance androgenetic molar conceptuses despite their diploid biparental constitution. has been proposed that phenotypes both types are aberrant genomic imprinting. However no systematic analyses for imprinting defects have reported. Here, we present genome-wide...
Hyperglycaemia and hypoglycaemia are common in preterm infants have been associated with increased risk of mortality morbidity. Interventions to reduce these exposures particularly challenging due the infrequent measurement blood glucose concentrations, potential causing more harm instead improving outcomes for infants. Continuous monitoring (CGM) is widely used adults children diabetes improve control, but has not approved use neonates. The REACT trial aimed evaluate efficacy safety CGM...
Abstract Hypoxic‐ischemic encephalopathy (HIE) resulting from perinatal asphyxia presents a substantial risk of mortality and long‐term sequelae in neonates. Therapeutic hypothermia (TH) improves both short‐ outcomes near‐term/term neonates with moderate to severe HIE. While TH often require polypharmacy, the impact covariates on pharmacokinetics pharmacodynamics is only partially described quantified. In this pooled, multicenter retrospective study, longitudinal trends human serum albumin...
Genomic imprinting is the parent-of-origin-specific allelic transcriptional silencing observed in mammals, which governed by DNA methylation established gametes and maintained throughout development. The frequency extent of epimutations associated with nine reported syndromes varies because it evident that aberrant preimplantation maintenance imprinted differentially methylated regions (DMRs) may affect multiple loci. Using a custom Illumina GoldenGate array targeting 27 DMRs, we profiled 65...
Genomic imprinting is the epigenetic process that results in monoallelic expression of genes depending on parental origin. These are known to be critical for placental development and fetal growth mammals. Aberrant profiles at imprinted loci, such as DNA methylation defects, surprisingly rare pregnancies with compromised growth, while variations transcriptional output from expressed alleles more commonly reported complicated intrauterine restriction (IUGR). To determine if PLAGL1 HYMAI, two...
<h3>Objective</h3> Recent studies have highlighted the need for improved methods of monitoring glucose control in intensive care to reduce hyperglycaemia, without increasing risk hypoglycaemia. Continuous is increasingly used children with diabetes, but there are little data regarding its use preterm infant, particularly at extremes levels and over prolonged periods. This study aimed assess accuracy continuous sensor (CGMS) across profile, determine whether was any deterioration a 7 day...
<i>Objectives:</i> To evaluate the feasibility and efficacy of a continuous glucose monitoring system (CGMS) in population infants very low birth weight (VLBW). <i>Study Design:</i> Infants weighing ≤1,500 g ≤32 weeks gestation were recruited within 24 h delivery. A subcutaneous sensor connected to CGMS was inserted maintained for 7 days or until dysfunction. Therapeutic management followed usual standard protocols. <i>Results:</i> 38 patients (21 male)...
For the past three decades, assisted reproductive technologies (ART) have revolutionized infertility treatments. The use of ART is thought to be safe. However, early investigations suggested that children born as a result had higher risk diseases with epigenetic etiologies, including imprinting disorders caused by lack maternal methylation at control elements. In addition, large epidemiology studies highlighted an increased obstetric complications, severe intrauterine growth restriction...
Cancer is as much an epigenetic disease a genetic one; however, the interplay between these two processes unclear. Recently, it has been shown that large proportion of DNA methylation variability can be explained by allele-specific (ASM), either at classical imprinted loci or those regulated underlying variants. During recent screen for differentially methylated regions, we identified genomic interval overlapping non-coding nc886 RNA (previously known vtRNA2-1) atypical ASM shows variable...
Genome-wide studies have begun to link subtle variations in both allelic DNA methylation and parent-of-origin genetic effects with early development. Numerous reports highlighted that the placenta plays a critical role coordinating fetal growth, many key functions regulated by genomic imprinting. With recent description of wide-spread polymorphic placenta-specific imprinting, molecular mechanisms leading this curious epigenetic phenomenon is unknown, as their involvement pregnancies...
Human milk contains non-nutritional factors that promote intestinal maturation and protect against infectious inflammatory conditions. In the Neonatal Intensive Care Unit (NICU) setting, donor (DM) is recommended when availability of own mother’s (OMM) not enough. Our aim was to compare incidence necrotizing enterocolitis (NEC) late-onset sepsis (LOS) in very preterm infants (VPI) after introduction DM. Growth breastfeeding rates were examined as secondary outcomes. Single center,...
To analyze different methods to assess postnatal growth in a cohort of very premature infants (VPI) clinical setting and identify potential early markers failure.Study determinants VPI (≤32 weeks) during hospital stay. Nutritional intakes evolution were recorded. Growth velocity (GV: g/kg/day), extrauterine restriction (%) (EUGR: weight < 10th centile, z-score -1.28) failure (PGF: fall > 1.34) at 36 weeks postmenstrual age (PMA) calculated. Associations between or nutritional variables...
Objectives While the target of growth very preterm infants (VPIs) during Neonatal Intensive care unit (NICU) admission is still controversial, most accepted objective that they should follow their intrauterine trajectory in terms and body composition (BC). BC difficult to measure clinical daily routine but proxies like ratios skinfolds have been used. Prenatal postnatal factors can influence VPIs NICU. Design, setting patients We conducted a case-control study, including born before 32 weeks...
Abstract Genomic imprinting is the parent-of-origin dependent monoallelic expression of genes often associated with regions germline-derived DNA methylation that are maintained as differentially methylated (gDMRs) in somatic tissues. This form epigenetic regulation highly conserved mammals and thought to have co-evolved placentation. Tissue-specific gDMRs been identified human placenta, suggesting species-specific on unorthodox establishment or maintenance may be more widespread than...