Association between the p.Thr1406Asn polymorphism of the carbamoyl-phosphate synthetase 1 gene and necrotizing enterocolitis: A prospective multicenter study.

The p.Thr1406Asn (rs1047891) polymorphism of the carbamoyl-phosphate synthetase 1 (CPS1) gene has been linked to functional consequences affecting the downstream availability of the nitric oxide precursor L-arginine. L-arginine concentrations are decreased in preterm infants with necrotizing enterocolitis (NEC).

[Neonatal intestinal obstruction due to cecal duplication].

Introduction: Cecal duplications are rare, representing 0.4% of all gastrointestinal duplications, with few cases reported in the literature.

Clinical Case: A 48 hours-old newborn presented with bilious vomiting and abdominal distension; the ultrasound revealed a cystic mass in the right abdomen; ileocolic resection was performed with end to end anastomosis.

[Clinical guidelines for infantile-onset Pompe disease].

Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.

Cost-minimization analysis in the treatment of spasticity in children with cerebral palsy with botulinum toxin type A: an observational, longitudinal, retrospective study.

Objective: Cost-minimization analysis of onabotulinumtoxinA and abobotulinumtoxinA, taking into account the real dose administered to children with spasticity associated with dynamic equinus foot deformity due to cerebral palsy.

Method: A single centre, observational, longitudinal, and retrospective study which included spastic paediatric patients aged 2-to-18-years and treated with onabotulinumtoxinA or abobotulinumtoxinA from December 1995 to October 2012, in the Paediatric Neurology Unit of a first-level Spanish hospital. A longitudinal analysis of spasticity severity was made to confirm the similar efficacy of both treatments.

[Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data].

Introduction: Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care.

Aim: To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement.

A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.

Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disease characterized by skeletal dysplasia, focal segmental glomerulosclerosis, renal failure and immunodeficiency. In this work, we report the molecular studies undertaken in a severely affected SIOD patient that died at six years old due to nephropathy. The patient was screened for mutations using a targeted skeletal dysplasias panel.

The radiologist's role in child abuse: imaging protocol and differential diagnosis.

Child abuse or nonaccidental trauma is a major problem worldwide; in Spain, there are about 12,000 victims per year. The detection of specific lesions or findings that are incongruent with the reported mechanism of trauma mean that radiologists are often the physician responsible for sounding the alarm in cases of abuse. The triad consisting of subdural hematoma, metaphyseal fracture, and posterior rib fractures is very characteristic of the battered child syndrome.

Do knowledge of uterine artery resistance in the second trimester and targeted surveillance improve maternal and perinatal outcome? UTOPIA study: a randomized controlled trial.

Objectives: To ascertain whether screening for pre-eclampsia (PE) and intrauterine growth restriction (IUGR) by uterine artery (UtA) Doppler in the second trimester of pregnancy and targeted surveillance improve maternal and perinatal outcomes in an unselected population.

Methods: This was a multicenter randomized open-label controlled trial. At the routine second-trimester anomaly scan, women were assigned randomly to UtA Doppler or non-Doppler groups.

[VITAMIN D AND CHRONIC LUNG COLONIZATION IN PEDIATRIC AND YOUNG ADULTS CYSTIC FIBROSIS PATIENTS].

Introduction And Objectives: evaluate vitamin D status and its association with chronic lung colonisation in Cystic Fibrosis patients.

Material And Methods: descriptive cross-sectional multicenter study. From November 2012 to April 2014, at 12 national hospitals, 377 patients with Cystic Fibrosis were included.

Breast milk supplementation and preterm infant development after hospital discharge: a randomized clinical trial.

Objectives: To assess the effect of maternal breast milk supplementation on the development of exclusively breast-fed very low birth weight preterm infants at 12 months of corrected age.

Methods: A randomized clinical trial with 53 infants followed-up after discharge from the neonatal unit until a corrected gestational age of 12 months. Newborns in the intervention group were breastfed exclusively with maternal milk and received 2g of a multinutrient supplement (Pré-Nan(®), Nestlé, Vevey, Switzerland) added to expressed breast milk twice a day until a corrected age of 4-6 months.

Cervical pessary placement for prevention of preterm birth in unselected twin pregnancies: a randomized controlled trial.

Background: Preterm birth is the leading cause of neonatal death and handicap in survivors. Although twins are found in 1.5% of pregnancies they account for about 25% of preterm births.

Considerable variations in growth hormone policy and prescription in paediatric end-stage renal disease across European countries-a report from the ESPN/ERA-EDTA registry.

Background: Growth retardation in paediatric end-stage renal disease (ESRD) has a serious impact on adult life. It is potentially treatable with recombinant growth hormone (rGH). In this study, we aimed to quantify the variation in rGH policies and actual provided care in these patients across Europe.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Background: The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific.

Aims/methods: To improve the knowledge about OAD and UCD the E-IMD consortium established a web-based patient registry.

Results: We registered 795 patients with OAD (n = 452) and UCD (n = 343), with ornithine transcarbamylase (OTC) deficiency (n = 196), glutaric aciduria type 1 (GA1; n = 150) and methylmalonic aciduria (MMA; n = 149) being the most frequent diseases.

Plasma levels of dimethylarginines in preterm very low birth weight neonates: its relation with perinatal factors and short-term outcome.

Endogenously produced inhibitors of nitric oxide (NO) synthase, in particular asymmetric dimethylarginine (ADMA), are currently considered of importance in various disease states characterized by reduced NO availability. We investigated the association between plasma levels of ADMA, symmetric dimethylarginine (SDMA), L-arginine, and citrulline and perinatal factors and outcome in 130 preterm (gestational age ≤ 30 weeks) very low birth weight (VLBW, < 1500 g) infants. Plasma samples were collected 6-12 h after birth.

[Quantitative analysis of nutrient intake in children under 3 years old. ALSALMA study].

Objective: The objective of the study was to analyze the nutritional patterns of children under three years of age and to compare the results against the recommendations for energy and nutrient intake.

Patients And Methods: In this cross-sectional epidemiological study, parents completed a dietary diary on their food intake of their children on 4 non-consecutive days. The percentage of children with mean intakes below the recommendations for each age and nutrient was analyzed using the "Estimated Average Requirement (EAR) cut-point method.

Cardiac preload responsiveness in children with cardiovascular dysfunction or dilated cardiomyopathy: a multicenter observational study.

Objectives: To characterize cardiac preload responsiveness in pediatric patients with cardiovascular dysfunction and dilated cardiomyopathy using global end-diastolic volume index, stroke volume index, cardiac index, and extravascular lung water index.

Design: Prospective multicenter observational study.

Setting: Medical/surgical PICUs of seven Spanish University Medical Centers.

Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults.

Background: Cysteamine has improved survival and prognosis in cystinosis. Increasing numbers of patients reach adulthood and face new challenges such as compliance that wanes over time. The aim of this study was to evaluate adherence to cysteamine treatment in a group of cystinotic patients in Spain in an attempt to identify potential therapy pitfalls and improve the overall care of affected individuals.

Renal replacement therapy for rare diseases affecting the kidney: an analysis of the ERA-EDTA Registry.

Background: In recent years, increased efforts have been undertaken to address the needs of patients with rare diseases by international initiatives and consortia devoted to rare disease research and management. However, information on the overall prevalence of rare diseases within the end-stage renal disease (ESRD) population is limited. The aims of this study were (i) to identify those rare diseases within the ERA-EDTA Registry for which renal replacement therapy (RRT) is being provided and (ii) to determine the prevalence and incidence of RRT for ESRD due to rare diseases, both overall and separately for children and adults.

Twin pregnancy among women with pregestational type 1 or type 2 diabetes mellitus.

Objective: To assess the impact of twin versus singleton pregnancy on obstetric and perinatal outcomes among women with pregestational diabetes mellitus (DM).

Methods: Multicenter retrospective cohort study of women with pregestational DM and twin or singleton pregnancy, conducted in Spain during 2005-2010. Each group included 63 women (type 1 DM, n=39; type 2 DM, n=24).

Morbidity and mortality among very-low-birth-weight infants born to mothers with clinical chorioamnionitis.

Background: Controversy exists about the relationship between maternal inflammation and the development of different morbidities and mortality in the newborn. We aimed to establish the incidence of clinical chorioamnionitis in our Neonatal Intensive Care Unit and its relation to morbidity and mortality among very-low-birth-weight infants.

Methods: This was an observational study of a cohort of very-low-birth-weight neonates admitted to our Neonatal Intensive Care Unit, between January 2008 and December 2012.

[Erythropoietin as a protective factor in rat CNS cells receiving radiotherapy -an in vitro study].

Aim: To investigate the effect of erythropoietin in cultured rat cerebral cortex cells receiving radiotherapy.

Materials And Methods: Cerebral cortex was taken from 17-day-old Wistar rat embryos and placed in culture. At 72 hours, the cultures were divided into two groups, one receiving 30 pM erythropoietin alpha and the other was the control group.

[Evaluation of diet and nutrient intake in children under three years old. ALSALMA pilot study].

Objective: The present study evaluates energy and nutrient intake in Spanish children under three years of age, and compares the results with the current recommendations in order to identify possible inadequate nutrient intake.

Patients And Methods: A cross-sectional pilot study. The mothers completed a diet diary for four non-consecutive days, recording the products and amounts consumed by their children.

[New population curves in spanish extremely preterm neonates].

Introduction: Most anthropometric reference data for extremely preterm infants used in Spain are outdated and based on non-Spanish populations, or are derived from small hospital-based samples that failed to include neonates of borderline viability.

Objectives: To develop gender-specific, population-based curves for birth weight, length, and head circumference in extremely preterm Caucasian infants, using a large contemporary sample size of Spanish singletons.

Patients And Methods: Anthropometric data from neonates ≤ 28 weeks of gestational age were collected between January 2002 and December 2010 using the Spanish database SEN1500.