Josep Perapoch

• Doctor of Medicine
• Head of Department at Hospital Universitari de Girona Dr. Josep Trueta

The phenotypic repercussion of ZDHHC15 haploinsufficiency is not well-known. This gene was initially suggested as a candidate for X-linked mental retardation, but such an association was later questioned. We studied a multiplex family with three members with autism spectrum disorder (ASD) by array CGH, karyotype, exome sequencing and X-chromosome i...

Professionals that work in neonatal units need to identify the strengths and weaknesses of the premature infant who is in the transition process from feeding through a gastric tube to oral feeding. The main aim of this study was to validate the Oral FEeding Assessment in premaTure INfants (OFEATINg) instrument. A psychometric validity and reliabili...

Este libro es una reflexión sobre la importancia de poner en primer plano las políticas de cuidados hacia la primera infancia, atendiendo de manera prioritaria sus necesidades evolutivas y ofreciéndole entornos cariñosos y sensibles, protectores frente a las situaciones de adversidad que dan lugar o agravan los problemas del desarrollo. Se expone...

GLYT1 encephalopathy is a form of glycine encephalopathy caused by disturbance of glycine transport. The phenotypic spectrum of the disease has not yet been completely described, as only four unrelated families with the disorder have been reported to date. Common features of affected patients include neonatal hypotonia, respiratory failure, encepha...

Aim: To assess, at national level, the implementation of eight principles for infant- and family-centred developmental care (IFCDC) in neonatal units. A European expert group established eight 'Principles of care' in 2018 that define neurodevelopmental and family-centred care. Methods: The implementation of each principle was assessed by a surve...

Objective: To evaluate the association between prematurity (by the gestational week [gw]) and ADHD during childhood. Method: Observational, matched cohort study using data from children born in a tertiary-level hospital (Hospital Universitari Vall d’Hebron, Catalonia, Spain) during 1995-2007 and data from the Information System for the Development...

NoaH is an eHealth platform which uses a smartphone app together with a Bluetooth LE pulse-oximeter to obtain the vital information of the premature baby.

A method for analyzing the influence of noise on newborns is proposed. The method consists of defining three different types of time interval (quiet, noisy and nursing) and, for each period, environmental noise levels, heart rate, mean arterial pressure and oxygen saturation is continuously measured. The statistical analysis of the influence of the...

Introduction: Intrauterine growth restriction (IUGR) and prematurity have been associated with increased perinatal morbidity and mortality and cardiovascular fetal programming. However, there are few studies on the impact of placenta-related IUGR on perinatal results and cardiovascular biomarkers of premature infants. Objectives: To determine th...

Objective: Intrauterine-growth restriction is associated with impaired neurodevelopment. However, studies on early childhood neurodevelopment of premature infants with placenta-related intrauterine-growth restriction (IUGR) are scarce and heterogeneous. We aimed to analyze the impact of placenta-related IUGR on preschool age neurodevelopment in pr...

Intrauterine growth restriction (IUGR) and prematurity have been associated with increased perinatal morbidity and mortality and cardiovascular fetal programming. However, there are few studies on the impact of placenta-related IUGR on perinatal results and cardiovascular biomarkers of premature infants.

Objectives: To evaluate the perinatal results of infants born between 23 and 25.6 weeks of gestation. Methods: Medical charts of all women giving birth prematurely (23–25.6 w) from January 2005 to December 2011 were retrospectively reviewed. Cases of malformed infants or deliveries elsewhere were excluded. Results: 198 infants were included. Chorio...

Background: The implementation of the Newborn Individualized Developmental Care and Assessment Program (NIDCAP) requires a significant effort from all professionals involved. Aim: To determine the necessary requirements and barriers perceived by health professionals in the implementation of the NIDCAP. Study design: A questionnaire covering re...

Background: The implementation of the Newborn Individualized Developmental Care and Assessment Program (NIDCAP) requires great effort. Few studies evaluating staff perception of NIDCAP exist, especially in Southern Europe, and these few studies usually have a low representation of the medical staff. Aims: Exploration of staff perception (neonato...

To evaluate the neurodevelopmental outcome at 12 months' corrected age in preterm infants with and without severe intrauterine growth restriction. This prospective follow-up study included 37 infants with severe intrauterine growth restriction and 36 appropriate-for-gestational-age infants born between 26 and 34 weeks. Neonatal and infant data were...

To determine the neonatal morbidity and mortality in triplets. Retrospective study of 189 triplets born between January'98 and December'04. Mean maternal age was 33 years. Of the pregnancies, 71.4 % were achieved using fertilization techniques, 84 % received antenatal steroids and 96.8 % of births were by caesarean section. The mean gestational age...

Objective To determine the neonatal morbidity and mortality in triplets. Method Retrospective study of 189 triplets born between January’ 98 and December’04. Results Mean maternal age was 33 years. Of the pregnancies, 71.4 % were achieved using fertilization techniques, 84% received antenatal steroids and 96.8 % of births were by caesarean sectio...

Standards for the design of a neonatology unit are reviewed. The process should begin with a planning team to outline the desired objectives to be achieved, followed by the intervention of a team of architects. Medical considerations, standards and recommendations, as well as architectural considerations (adequate privacy and intimacy, need for soc...

Standards for the design of a neonatology unit are reviewed. The process should begin with a planning team to outline the desired objectives to be achieved, followed by the intervention of a team of architects. Medical considerations, standards and recommendations, as well as architectural considerations (adequate privacy and intimacy, need for soc...

To compare the prevalence of transient periventricular echodensities (TPE), periventricular leukomalacia (PVL) and haemorrhagic brain lesions (HBL) in singleton intrauterine growth-restricted (IUGR) infants and in those appropriate for gestational age (AGA). Thirty-five IUGR and 35 AGA singleton infants born between 24- and 34-week gestational age...

Little is understood about the effects of prematurity on long-term cognitive functioning. No detailed studies have been carried out in a Spanish population to investigate the cognitive performance of adolescents who were born preterm. To utilise the Wechsler intelligence scales to examine the performance of a broad sample of adolescents who were bo...

Background. Modern obstetric and neonatal care have increased the survival of the extremely preterm neonates. As the limits of viability decrease, it is of paramount importance to have reliable data on long-term morbidity. Objectives. To study the outcome of fetal infants Methods. All surviving children of 24 and 25 weeks of gestational age (GA) di...

This study was undertaken to document pregnancy and infant outcome after cord coagulation with laser and/or bipolar as a technique for selective feticide in complicated monochorionic multiple pregnancies. Prospective follow-up study in 2 tertiary fetal medicine centers. Eighty cases were included in the study (73 twins, 7 triplets). The survival ra...

Background. Twin-to-twin transfusion syndrome (TTTS) occurs in 10% of monochorionic twin pregnancies, and it results from the presence of placental vascular anastomoses that lead to an umbalance of the normal inter-twin blood flow. One fetus becomes hypovolemic (donor twin) whereas the other becomes hypervolemic (recipient twin). The classical diag...

Developmental and family centered care (DC) is a framework that aims to enhance the neurodevelopment of the infant. Over the last few years Spanish neonatal units have been working toward introducing this type of care. To evaluate DC in Spanish neonatal units by assessing certain features of the care provided to very low birth weight infants and th...

Introduction Developmental and family centered care (DC) is a framework that aims to enhance the neurodevelopment of the infant. Over the last few years Spanish neonatal units have been working toward introducing this type of care. Objective To evaluate DC in Spanish neonatal units by assessing certain features of the care provided to very low bir...

Introduction: The developmental (DC) and family centered care is a framework for providing care that enhances the neurodevelopment of the infant. Over the past years Spanish neonatal units have been working towards introducing this type of care.Objective: Evaluation of DC in Spanish neonatal units through consideration of some aspects of the care p...

To assess the incidence of parenchymal lesions on early and late neonatal brain scans and its association with the presence or absence of intermittent absent or reversed end-diastolic umbilical artery flow velocity (A/REDV) in monochorionic twins complicated by selective intrauterine growth restriction (IUGR), as compared to dichorionic twins and m...

Objective The aim of this study was to evaluate the incidence, severity and outcome of retinopathy of prematurity (ROP) in neonates with birth weights of less than 1,501 g in our environment Methods A prospective study of infants with birth weights of less than 1,501 g was performed from January 1999 to June 2000. One hundred seventy-eight infants...

Objective To evaluate perinatal outcome in the first 50 cases of severe twin-twin transfusion syndrome (TTS) treated in Spain with fetoscopic laser coagulation of the placental anastomoses Patients and methods We performed a prospective study of 50 cases of severe TTS treated with laser therapy. The main outcome measures were perinatal outcome, ob...

The aim of this study was to evaluate the incidence, severity and outcome of retinopathy of prematurity (ROP) in neonates with birth weights of less than 1,501 g in our environment. A prospective study of infants with birth weights of less than 1,501 g was performed from January 1999 to June 2000. One hundred seventy-eight infants were enrolled in...

Background. It is difficult to predefine a minimal threshold for survival for very-low birth weight infants based solely on birth weight (> 500 g). Clinical Observation. We present the case of a newborn female of 26 weeks of gestational age and 390 g who was admitted to our neonatal unit for 5.5 months without developing significant sequelae. Follo...

Ultra-Levura (Upsamedica, Spain) is a yeast (Saccharomyces boulardii) widely used as a biotherapeutic agent. To date, few adverse effects have been reported, although fungemia with Saccharomyces cerevisiae can occur in weak and immunosuppressed patients. Reported here are two cases of fungemia with Saccharomyces cerevisiae. One patient had been tre...

Care of the normal term newborn should favor the process of adaptation itself to extrauterine life and the mother-child relationship as much as possible. The care used in these patients are fundamentally preventive. The preterm newborn requires much more specialized care, which is increasingly greater as their gestational age decreases. The moment...

We present 12 newborns with acute renal failure (ARF) of different etiologies that were treated with continuous arterio-venous hemofiltration (CAVH). Gestational age and birth weight ranged from 26-42 weeks and 700-4, 700 grams, respectively. The umbilical artery and vein were most frequently used as vascular accesses. Two types of filters were use...

The objective of this study is to present our preliminary experience with pulmonary hypertension inhaled nitric oxide therapy with two newborns presenting with transposition of the great arteries, as well as the usefulness of the Doppler in pulmonary hypertension diagnosis. Revision of the variations of the hypoxic parameters according to the thera...

Varicella infection before 20th week of gestation has been associated with a well-defined embryopathy. The incidence of the congenital varicella syndrome is unknown but it has been estimated at about 2%. In a prospective study carried out during a 18-month period, 19 patients were identified who had first-trimester varicella infection confirmed by...

We report the results of a prospective study in which the effectiveness of 70% alcohol (A), mercurochrome (M), a solution of alcohol and mercurochrome (AM) and 1% chlorhexidine (C) as umbilical antiseptics was tested on 311 normal newborn infants. Similar results were obtained by using A, M, or AM; however, when C was used umbilical colonization wa...