A5033730816- Neonatal Respiratory Health Research
- Genetic Syndromes and Imprinting
- Infant Development and Preterm Care
- Genomics and Rare Diseases
- Renal and related cancers
- Neonatal and Maternal Infections
- Kruppel-like factors research
- Body Composition Measurement Techniques
- Neonatal and fetal brain pathology
- Central Venous Catheters and Hemodialysis
- Infant Nutrition and Health
- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Vasculitis and related conditions
- Nosocomial Infections in ICU
- Bartonella species infections research
- Prenatal Screening and Diagnostics
- Muscle and Compartmental Disorders
- Eosinophilic Disorders and Syndromes
- Ocular Diseases and Behçet’s Syndrome
- Organ Transplantation Techniques and Outcomes
- Protein Tyrosine Phosphatases
- Hernia repair and management
- Vector-borne infectious diseases
- Systemic Lupus Erythematosus Research
Santa Lucía University General Hospital
2014-2023
Hospital Universitario Virgen de la Arrixaca
2009
The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on organization for individuals with PMS. We indicate that should consider domains, which can be done within framework International Classification Functioning, Disability Health (ICF). This assesses disability functioning as outcome individual's interactions other factors. different roles care, such...
Gómez-Santos, Elisabeth; Lloreda-García, Jose M.; Fernández-Fructuoso, R.; Martínez-Ferrández, Carmen; Leante-Castellanos, L.; Fuentes-Gutiérrez, Carmen Author Information
An evaluation is made of the impact a series five interventions on incidence hospital-related infections in level iii neonatal unit.Quasi-experimental, pre-post intervention study, which included preterm infants weighing 1,500g at birth or delivered <32 weeks gestation, admitted 12 months before and after measures were implemented (January 2014). The consisted of: optimising hand washing, following protocol for insertion handling central intravenous catheters, encouraging breastfeeding;...
Silver Russell syndrome (SRS) is a congenital disorder characterized by intrauterine growth retardation (IUGR), feeding difficulties and postnatal retardation. In small number of cases, PLAG1 variants have been described (OMIM #618907). haploinsufficiency decreases Insulin-like factor 2 expression produces syndrome-like phenotype. Here, we describe the phenotype molecular features 26 months girl with clinical SRS, de novo 2.1 Mb deletion encompassing reported in association suggestive SRS.
Lack of specific protocols for neonatal donation contributes to the rarity donors. In this study, we evaluate impact implementation a protocol in our NICU.In single-center conducted retrospective chart review deaths NICU from January 2013 2022. The study was divided into two periods: before and after protocol. referral rates potential donors OPO periods were compared using chi-square test. A p value < .05 considered statistically significant.Sixty-four infants reviewed. Seven (10.9%) met...
We report a new clinical manifestation of neonatal Behcet's disease. A newborn from mother with active disease during pregnancy, who develops vasomotor phenomena (Raynaud) oral ulcerations in the second day life. Neonatal mucocutaneous lesions have been reported previously few newborns pregnant women Behçet Although is very infrequent situation, mostly transient and favorable course, clinicians should be aware serious potential complications associated this entity.
Anemia fetal grave y encefalopatia epileptica neonatal causada por una nueva mutacion en el gen PNPO.
La masa grasa es mayor en lactantes pretérmino tardíos que nacidos a término al mes de vida y esto podría ser un factor riesgo adicional para el síndrome metabólico la adulta. Para evaluar composición corporal (CC) prematuros utilizamos análisis impedancia bioeléctrica buscamos determinar qué parámetro antropométrico está asociado con CC. Nuestra hipótesis peso longitud índice (IMG) normalizado por año vida. Realizamos estudio cohortes prospectivo 2 grupos: término. Los datos CC se midieron...
The fat mass (FM) is greater in late preterm than full term infants at 1 month post birth, which may be an additional risk factor for metabolic syndrome adulthood.To evaluate body composition (BC) using bioelectrical impedance analysis (BIA) to determine anthropometric parameters are associated with BC. Our hypothesis was that weight-for-length the length-normalized index (FMI) year of life.We carried out a prospective cohort study 2 groups: and infants. We obtained BC data by BIA....
Silver Russell syndrome (SRS) is a congenital disorder characterised by intrauterine growth retardation (IUGR), feeding difficulties and postnatal retardation. In small number of cases PLAG1 variants have been described (OMIM #618907). haploinsufficiency decreases IGF2 expression produces like phenotype. Here, we describe the phenotype molecular features 26 months girl with clinical SRS de novo 2.1 Mb deletion encompassing reported in association suggestive SRS. This manuscript has published...
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Silver Russell syndrome (SRS) is a congenital disorder characterised by intrauterine growth retardation (IUGR), feeding difficulties and postnatal retardation. In small number of cases PLAG1 variants have been described (OMIM #618907). haploinsufficiency decreases IGF2 expression produces like phenotype. Here, we describe the phenotype molecular features 26 months girl with clinical SRS de novo 2.1 Mb deletion encompassing reported in association suggestive SRS.