About
72
Publications
25,648
Reads
How we measure 'reads'
A 'read' is counted each time someone views a publication summary (such as the title, abstract, and list of authors), clicks on a figure, or views or downloads the full-text. Learn more
1,676
Citations
Citations since 2017
Introduction
Skills and Expertise
Publications
Publications (72)
Sphingosine-1-phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is an autosomal recessive multi-system disorder, which mainly incorporates steroid-resistant nephrotic syndrome and primary adrenal insufficiency. Further variable endocrine manifestations are described. We aimed to comprehensively annotate the endocrinopathies associated with pat...
La implicación de las familias de forma activa en el proceso de alfabetización tiene importantes repercusiones en la formación lectora de los niños: generar contextos ricos en material impreso y en experiencias relacionadas con la lectura y la escritura favorece el aprendizaje de la lengua escrita y hace que la enseñanza formal sea más sencilla. En...
With a view to understanding and reflecting upon the form that initial literacy practices take, this paper seeks to analyse how seven teachers in early childhood education in Spain introduce the teaching of reading and writing. A multiple-case study has been conducted; the data were gathered by video-recording the sessions (a total of 105 hours). T...
Two pediatric patients with different causes of hyperparathyroidism are reported. First patient is a 13-year-old male with severe hypercalcemia due to left upper parathyroid gland adenoma. After successful surgery, calcium and phosphate levels normalized, but parathormone levels remained elevated. Further studies revealed a second adenoma in the ri...
Introduction
Pubertal growth pattern differs according to age at pubertal growth spurt onset which occurs over a five years period (girls: 8–13 years, boys: 10–15 years). The need for more than one pubertal reference pattern has been proposed. We aimed to obtain five 1-year-age-interval pubertal patterns.
Subjects and methods
Longitudinal (6 years...
Introduction
Body mass index-for age (BMI) and tri-ponderal mass index-for-age (TMI) values of healthy non-underweight, non-obese millennial children have not been reported until now. We aimed to obtain these values.
Subjects and methods
Longitudinal growth study (1995–2017) of 1,453 healthy non-underweight, non-obese millennial children, from bir...
Introduction:
Pubertal growth pattern differs according to age at pubertal growth spurt onset which occurs over a five years period (girls: 8-13 years, boys: 10-15 years). The need for more than one pubertal reference pattern has been proposed. We aimed to obtain five 1-year-age-interval pubertal patterns.
Subjects and methods:
Longitudinal (6 y...
Introduction:
Body mass index-for age (BMI) and tri-ponderal mass index-for-age (TMI) values of healthy non-underweight, non-obese millennial children have not been reported until now. We aimed to obtain these values.
Subjects and methods:
Longitudinal growth study (1995-2017) of 1,453 healthy non-underweight, non-obese millennial children, from...
Planning is one of the professional tasks teachers have to carry out before their direct action in the classrooms. This planning is closely interrelated to the way teachers teach. The question about how and why teachers reach their decisions in their pre-class planning is a classical one in the research into curricular design and development. The a...
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this arti...
Microcephaly with simplified gyration, epilepsy and permanent neonatal diabetes syndrome (MEDS) is a recently described, autosomal recessive-inherited syndrome. We report the case of an infant presenting with lethargy at age five weeks and clinical findings of persistent hyperglycaemia and microcephaly with simplified gyration, suggestive of MEDS....
Aims:
To assess metabolic control in a paediatric T1D population in Spain and analyse the rate of severe acute decompensations and chronic complications.
Methods:
Data from patients treated at eight paediatric diabetes units with experienced diabetes teams between June and December 2014 were analysed in an observational prospective study. Variab...
HNF4A gene mutations have been reported in cases of transient and persistent hyperinsulinaemic hypoglycaemia of infancy (HHI), particularly in families with adulthood diabetes. The case of a patient with HHI, liver impairment and renal tubulopathy due to a mutation in HNF4A is reported.
Learning points
Urine specimen study in cases of HHI with dia...
Primary adrenal insufficiency is life threatening and can present alone or in combination with other comorbidities. Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1). SGPL1 executes the final decisive step of the sph...
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this arti...
El trabajo describe las actividades que se desarrollan en un programa para promocio- nar la lectura con niños de entre 9 meses y 7 años,ysuposiblecontribuciónparacrearcondiciones que podrían facilitar el proceso de alfabetización posterior. Partiendo de diversos trabajos desarrollados en torno al concepto de alfabetización emergente, se analizan se...
Introduction: Hyperinsulinism (HI) is the most frequent cause of sustained neonatal hypoglycemia; it can be transient (secondary) or persistent (congenital). We describe four cases of neonatal HI seen in a neonatal unit over a seven-year period. Clinical observation: Three of the four cases were transient or secondary, and the other was persistent....
This article analyses, on the one hand, the program activities designed, to promote reading with children whose ages are comprised between nine months to seven years; and, on the other, the possible contribution of the program for creating appropriate conditions to the future literacy learning of the children. Based on different works about the ide...
Este trabajo presenta un estudio sobre la relación que existe entre las prácticas declaradas por los docentes y el conocimiento teórico acumulado sobre la enseñanza de la lectura. Para ello diseñamos un instrumento de análisis en torno a una serie de categorías que reflejan los principales enfoques teóricos sobre cómo se aprende a leer y escribir....
Growth hormone (GH) deficiency manifests differently according to the individual's developmental stage. During the paediatric period, one of the most prominent clinical features is chronic skeletal growth retardation. Clinical signs also depend on the cause (genetic, acquired or idiopathic), deficiency intensity and whether GH is the only pituitary...
Background:
GH release after stimuli classifies short children as severe idiopathic isolated GH deficiency (IIGHD), mild IIGHD, dissociated GH release (DGHR) and normal GH release (NGHR) and anthropometric birth data as adequate for gestational age (AGA) or small for gestational age (SGA). GH release after stimuli classifies AGA patients as IIGHD...
Knowing precisely how teachers use Internet resources in their classroom practice is essential when seeking to explain what aspects support the real incorporation of information and communication technologies (ICT) in teaching, and in determining the mechanisms underlying the use of these resources in direct teaching situations.This article examine...
Molecular causes of isolated severe growth hormone deficiency (ISGHD) in several genes have been established. The aim of this study was to analyse the contribution of growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to GH deficiency in a series of prepubertal ISGHD patients and to normal adult height.
A systematic GHRHR gen...
The 65-kD isoform of glutamic acid decarboxylase (GAD65) is a major autoantigen in type 1 diabetes. We hypothesized that alum-formulated GAD65 (GAD-alum) can preserve beta-cell function in patients with recent-onset type 1 diabetes.
We studied 334 patients, 10 to 20 years of age, with type 1 diabetes, fasting C-peptide levels of more than 0.3 ng pe...
La introducción de las tecnologías de la información y la comunicación (TIC) en los centros escolaresha generado bastantes expectativas en torno a la transformación que pueda operarse en la enseñanza del currículo. Este trabajo estudia cómo los profesores de enseñanza secundaria están incorporando a sus prácticas algunas de estas tecnologías, en co...
One hundred and forty-six index patients with 46,XY DSD in whom gonads were confirmed as testes were consecutively studied for a molecular diagnosis during the period 2002-2010. AR gene was analysed in all patients as the first candidate gene, yielding a mutation in 42.5% of cases and SRD5A2 gene was analysed as the second candidate gene, resulting...
Steroidogenic acute regulatory protein (StAR) is crucial for transport of cholesterol to mitochondria where biosynthesis of steroids is initiated. Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH).
StAR gene mutations causing partial loss of function manifest atypical and may be mistaken as familial glucocorticoid deficiency...
FSH-secreting pituitary adenomas are extremely rare in children and are seldom associated with clinical manifestations of high serum gonadotrophin levels. Thus, most patients have a late presentation, usually as macroadenomas.
Two different clinical forms of presentation of FSH-secreting pituitary adenomas are reported: one in a 12-year-old boy wit...
The paper presents a study on the relationship between teachers' self-reported teaching practices and their theoretical knowledge on literacy instruction. For this purpose, we designed an instrument for analysing categories covering the main theoretical approaches to literacy. We interviewed early childhood and first stage primary education teacher...
The paper presents a study on the relationship between teachers' self-reported teaching practices and their theoretical knowledge on literacy instruction. For this purpose, we designed an instrument for analysing categories covering the main theoretical approaches to literacy. We interviewed early childhood and first stage primary education teacher...
Mutations in melanocortin receptor 2 (MC2R) and its related melanocortin receptor accessory protein (MRAP) cause familial glucocorticoid deficiency. We identified a novel MC2R mutation, K289fs. This unique mutation in the C terminus of MC2R is located in the intracellular part of the protein for which the exact function is unknown.
A 6-wk-old boy p...
In prepubertal short children with idiopathic growth retardation, growth hormone (GH) peak after GH release stimuli classifies patients as growth hormone- deficient (GHD) or non-GHD. This study compared a 2-year growth response to GH therapy in 318 prepubertal short children. Methods: Patients were classified as: severe GHD (GH peaks <5 ng/ml after...
A rare case of glycogen storage disease type III with unusually absent ketone body production during hypoglycemia is presented. A 10-month-old boy presented with asymptomatic hepatomegaly. GOT/GPT 2555/1160 IU/L, CK 302 IU/L, triglycerides 1223 mg/dL, cholesterol 702 mg/dL and uric acid 7.9 mg/dL. After a 9-hour fast, glucose was 27 mg/dL and adequ...
Retinol-binding protein 4 (RBP4) is known to be involved in obesity-associated insulin resistance. Aims: To study the relationships between the degree of adiposity, insulin resistance indices, plasma lipids, inflammatory parameters, glucose intolerance (GI) status and plasma RBP4 levels in obese children and adolescents.
Prospective study comprisin...
Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to milder degrees of undervirilization (partial form or PAIS) or men with only infertility (mild form or MAIS)....
Age at pubertal growth spurt (PGS) onset varies and is sex-dependent. We present anthropometric pubertal growth data for five 1-year interval age maturity groups: very early, early, intermediate, late and very late.
Longitudinal growth study of 458 healthy children (223 boys, 235 girls). Ages at PGS onset and at adult height attainment, total puber...
A prospective study was conducted to evaluate low-density lipoprotein-cholesterol (LDL-C) lowering efficacy and tolerability of ezetimibe as monotherapy in children and adolescents with polygenic hypercholesterolemia (PH) or familial hypercholesterolemia (FH).
Children with PH (n=6) or FH (n=11) aged 5-15 years were consecutively enrolled to receiv...
"Niñ@s en movimiento" is an interventional programme (11 weekly sessions of 90 minutes' duration) designed to modify psychological aspects and nutritional and life style habits in obese children aged 6-12 and in their families.
Eighty-one obese children (46 girls, 35 boys), 6-12 years of age were included. Body mass index (BMI), Mediterranean diet...
Background and objective
«Niñ@s en movimiento» is an interventional programme (11 weekly sessions of 90 minutes’s duration) designed to modify psychological aspects and nutritional and life style habits in obese children aged 6-12 and in their families.
Patients and method
Eighty-one obese children (46 girls, 35 boys), 6-12 years of age were inclu...
The study we carried out deals with how teachers express their practical knowledge. The main objective was to classify how it is expressed, so that we can see its components, its limits, and how close it is to theoretical knowledge, understanding as such that which is based on research and aimed at explaining phenomena by looking for regular featur...
To report the long-term follow-up of three nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene.
Oral glucose tolerance test (OGTT) and venous 24-h glucose-insulin profile were performed yearly from adolescence.
Patient 1 (now aged 31 years) developed insulin-dependent diabetes at...
Background and objective
In both sexes, postnatal growth differs among subjects due to differences in age at which pubertal growth begins. However, little is known on the influence of this fact on normal adult height distribution. Our aim was to compare adult height reached in the 5 maturing groups, according to age at pubertal onset.
Subjects and...
Obesity is the most frequent nutritional disorder in infancy and adolescence. The rise in its prevalence and severity have highlighted its numerous and significant associated comorbidities. Despite the knowledge acquired in recent years on weight control and the advent of new hormones, the treatment of obesity remains one of the most difficult prob...
In both sexes, postnatal growth differs among subjects due to differences in age at which pubertal growth begins. However, little is known on the influence of this fact on normal adult height distribution. Our aim was to compare adult height reached in the 5 maturing groups, according to age at pubertal onset.
Two-hundred and thirty healthy subject...
To assess thyroid function in 76 sick preterm infants 30-36 weeks gestational age.
Measurement of serum TSH, T4, T3, free T4 and rT3 in the mother and cord at delivery, and in the infant at 1 and 24 hours, 1 and 3 weeks, 2, 4, 6 and 12 months of postnatal age. These values were compared with those of 75 healthy age-matched controls. Gestational age...
Consensus is lacking as to whether the exon 3-deleted (d3)/full-length (fl) GH receptor (GHR) polymorphism is associated with responsiveness to GH therapy.
Our objective was to evaluate, in short, prepubertal, appropriate-for-gestational age (AGA) patients, 2-yr growth response to GH therapy (31.7+/-3.5 microg/kg.d) according to exon 3-deleted/full...
In short small-for-gestational-age (SGA) patients, the exon 3-deleted(d3)/full-length (fl)-GHR polymorphism was associated with responsiveness to GH therapy (30-48 microg/kg.d); however, these results were not confirmed for higher GH doses (56-66 microg/kg.d). We hypothesized that higher doses would mask the lower dose differences.
Our objective wa...
Assessment of thyroid function in preterm neonates (PTN) 27-29 weeks of gestational age.
80 PTN, gestational age 27 weeks in 24, 28 weeks in 28, and 29 weeks in 28. Neonates were classified as healthy (n=17) or sick (n=63). Measurement of serum TSH, free T4, T4, T3 and rT3 in the mother and in the cord at the time of delivery, and in the infant at...
GH1 gene presents a complex map of single nucleotide polymorphisms (SNPs) in the entire promoter, coding and noncoding regions. The aim of the study was to establish the complete map of GH1 gene SNPs in our control normal population and to analyse its association with adult height.
A systematic GH1 gene analysis was designed in a control population...
A polymorphism in the human GH receptor gene (d3/fl-GHR) resulting in genomic deletion of exon 3 has been associated with the degree of height increase in response to GH therapy.
The objective of the study was to evaluate the frequencies of d3/fl-GHR polymorphism genotypes in control and short small-for-gestational-age (SGA) populations.
An adult c...
The d3/fl-GH receptor (d3/fl-GHR, exon 3-deleted/full-length GHR) has recently been associated with responsiveness to GH therapy.
The objective of the study was to evaluate whether the d3/fl-GHR genotypes influence the intensity of spontaneous and/or GH therapy-stimulated growth in small-for-gestational-age (SGA) patients.
This was a 2-yr prospecti...
Maximum bone mass accretion in the fetal skeleton is acquired during the third trimester of gestation, and may be compromised in premature newborns.
To ascertain the incidence and evolution of osteopenia, a longitudinal study was performed to evaluate areal bone mineral density (aBMD) in the lumbar spine in premature newborns followed during the fi...
Thyroid function was evaluated in 75 healthy preterm infants, 30-35 weeks of gestational age. Serum thyrotropin (TSH), thyroxine (T(4)), triiodothyronine (T(3)), free T(4) (immunochemoluminescence) and reverse triiodothyronine (rT(3)) (radioimmunoassay) were measured in the mother and in the cord at delivery and in the preterm infants at 1 hour, 24...
Gestational age and neonatal anthropometric parameters are currently used to evaluate fetal growth and are predictive factors of perinatal and postnatal morbidity and mortality. We performed a retrospective analysis of neonatal anthropometric parameters (weight, vertex-heel length and head circumference) in 1,470 live preterm neonates born between...
Familial central diabetes insipidus is a progressive, hereditary disease with onset in early childhood. Five year old twin sisters were referred for study of primary enuresis and polydipsia-polyuria syndrome. Their father has central diabetes insipidus. The sisters were initially diagnosed of primary polydipsia after responding normally to two liqu...
Postoperative pain is undertreated. Lamotrigine, a new antiepileptic drug, has analgesic properties in its antisodium and antiglutamatergic effects. It may prevent postoperative pain. This pilot study assessed lamotrigine effects on postoperative pain.
This was a double-blind, randomized, placebo-controlled pilot study of 30 patients submitted to t...
