/SF-1 Collaborates with Inhibin α and the Androgen Receptor.

Steroidogenic factor 1 (SF-1) is a nuclear receptor that regulates steroidogenesis and reproductive development. /SF-1 variants are associated with a broad spectrum of phenotypes across individuals with disorders of sex development (DSDs). Oligogenic inheritance has been suggested as an explanation.

[Protocol for the study and treatment of primary immune thrombocytopenia: PTI-2018].

Primary immune thrombocytopenia, formerly known as immune thrombocytopenic purpura, is a disease for which the clinical and therapeutic management has always been controversial. The ITP working group of the Spanish Society of Paediatric Haematology and Oncology has updated its guidelines for diagnosis and treatment of primary immune thrombocytopenia in children, based on current guidelines, bibliographic review, clinical assays, and member consensus. The main objective is to reduce clinical variability in diagnostic and therapeutic procedures, in order to obtain best clinical results with minimal adverse events and good quality of life.

Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.

Hunter syndrome or mucopolysaccharidosis type II (MPSII) is a progressive multisystem X-linked lysosomal storage disease caused by mutations in the IDS gene that shows a wide spectrum of clinical symptoms and severity. Idursulfase, a specific enzyme replacement therapy (ERT) for MPSII, has been available since 2007. ERT, along with symptomatic management of patients, is fundamental for improving patient prognosis and quality of life.

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.

MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the male Mamld1-knockout mouse has normal genitalia and reproduction. Our aim was to search for MAMLD1 variations in 108 46,XY patients with disordered sex development, and to test them functionally.

Clinical response to long term enzyme replacement treatment in children, adolescent and adult patients with Hunter syndrome.

Background And Objective: Since enzyme replacement treatment (ERT) with idursulfase is available for Hunter syndrome (HS; mucopolysaccharidosis type II), for the first time, disease progression can be limited and organ damage reduced or prevented.

Patients And Methods: We described retrospectively the clinical evolution of eight HS males, treated with ERT and followed in routine clinical practice in Hospital Infantil La Fe (Valencia, Spain).

Results: We studied three children, three adolescents and two adults.

[Recommendations for the prevention of poisoning].

Poisoning is the fifth leading cause of death from unintentional injury in the WHO European region, while Spain is in the group with a lower rate. Most involuntary poisonings occur in young children while they are at the home, due to unintentional ingestion of therapeutic drugs or household products. Of these, a large percentage is stored in non-original containers and/or within reach of children.

[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.

[Recommendations for the prevention of drowning].

Drowning is the second leading cause of non-intentional death in children under the age of 19 in Europe. Weather conditions in Spain allow an extended period of contact with water, therefore increasing the risk of drowning (due to the increased exposure), and constitutes the second leading cause of accidental death in children less than 14 years of age. In children younger than 5 years, drowning occurs mostly in pools belonging to private homes or communities, while in older children, drowning is often linked to aquatic recreational activities in lakes, sea, rivers and canals, and at times associated with alcohol consumption.

[Diagnosis and treatment of familial hypercholesterolemia in Spain: Consensus document].

Familial hypercholesterolemia (FH) is a common genetic disorder, clinically manifested since birth, and associated with very high levels of plasma LDL-cholesterol (LDL-c), xanthomas, and premature coronary heart disease. Its early detection and treatment reduces coronary morbidity and mortality. Despite effective treatment being available, FH is under-diagnosed and under-treated.

[Diagnosis and treatment of familial hypercholesterolemia in Spain: consensus document].

Familial hypercholesterolemia (FH) is a common genetic disorder, clinically manifested since birth, and associated with very high levels of plasma LDL-cholesterol (LDL-c), xanthomas, and premature coronary heart disease. Its early detection and treatment reduces coronary morbidity and mortality. Despite effective treatment being available, FH is under-diagnosed and under-treated.

[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.

Pharmacokinetics and 48-week safety and antiviral activity of fosamprenavir-containing regimens in HIV-infected 2- to 18-year-old children.

Background: Pharmacokinetics, safety and antiviral activity of twice-daily fosamprenavir with or without ritonavir were evaluated in 2- to 18-year-old protease inhibitor-naïve and -experienced HIV-1-infected children.

Methods: Serial pharmacokinetic samples were collected at week 2 and predose samples every 4-12 weeks. Safety and plasma HIV-1 RNA were monitored every 4-12 weeks.

Could clinical scores guide the surgical treatment of necrotizing enterocolitis?

Purpose: Test the diagnostic reliability of the score for neonatal acute physiology-perinatal extension-II (SNAPPE-II) and the metabolic derangement acuity score (MDAS) as predictors of surgery in patients with necrotizing enterocolitis (NEC).

Methods: The SNAPPE-II and the MDAS were applied to 99 patients with NEC. Both the scores were calculated at the moment of diagnosis (T(0)) and when surgical assessment was required (T(1)).

[Kingella kingae infections in the pediatric age].

Kingella kingae infections have aroused great interest in the last few years because of the increasing number of identified cases. Although considered an emerging pathogen, the increase in diagnosis of these infections can probably be explained by better knowledge of the bacteria, improved microbiological diagnostic techniques and greater awareness among clinicians. K.

[Protocol for the study and treatment of immune thrombocytopenic purpura (ITP). ITP-2010].

Primary immune thrombocytopenia (ITP), formerly known as immune thrombocytopenic purpura, is a disease in which clinical and therapeutic management has always been controversial. The ITP working group of the Spanish Society of Paediatric Haematology and Oncology has updated its guidelines for diagnosis and treatment of ITP in children based on current guidelines, literature review, clinical trials and member consensus. The primary objective was to lessen clinical variability in diagnostic and therapeutic procedures in order to obtain best clinical results with minimal adverse events and good quality of life.

[Evaluation of the SNAPPE-II and Metabolic Disorder Index as predictors of mortality in necrotizing enterocolitis].

Aim: Several scores have been proposed to predict the outcome of patients with Necrotizing Enterocolitis (NEC). We compare the SNAPPE-II (Score for Neonatal Acute Physiology-Perinatal Extension-II) and the Metabolic Derangement Index for the outcome of mortality in neonates with NEC.

Methods: 99 patients diagnosed of NEC were reviewed retrospectively.

[Nonpalpable testes: short, middle and long-term results with the use of an exclusively laparoscopic technique].

Non palpable testis (NPT) has an incidence of 20% and clinical relevance derived from the possibility of malignant degeneration, fertility disfunction. Recently the development of minimally invasive surgery (MIS) allowed more accurate diagnosis and has become a new therapeutic tool. We carried out a retrospective study that included all the patients who underwent laparoscopic orchidopexy between 1998 and 2008.

[Estimation of the risk of upper digestive tract bleeding in patients with portal cavernomatosis].

Purpose: The aim of this study is to find out the risk of upper gastrointestinal bleeding (UGB) after the diagnosis of portal cavernoma in children, and to investigate several potential risk factors.

Material And Methods: We analyzed retrospectively 13 cases of portal cavernoma and estimated the risk of UGB with the Kaplan-Meier survival analysis. We calculated the incidence rate of the sample and the number of haemorrhages per year for each patient individually.

[Immature ovarian tumour and dilated myocardiopathy].

Asymptomatic 2 month-old infant referred for evaluation of a hard abdominal mass on the left side. The ultrasound examination showed a solid-cystic tumour above the left kidney. The alpha-fetoprotein level was 2000ng/ml.

[Results of the use of laparoscopic anti-reflux procedure for the prevention of episodes of apnea, bradycardia and desaturation].

In 1986 the National Institutes of Health Consensus Developement Conference on Infantile Apnea and Home Monitoring defined the Apparent Life Threatening Events (ALTEs) as those frightening episodes for the observer which are determined by a combination of apnea (central or obstructive), changes in colour (cianosis, congestive pallor) and marked changes in muscular tone, asphyxia. Despite the fact that its cause still remains unknown, many centres relate ALTE with gastroesophageal reflux disease (GERD) and therefore recommend medical treatment of GERD to those patients with ALTE. However there are very few articles that proof the efficacy of surgical treatment in patients with ALTE and GERD.

Observational prospective study of viral infections in children undergoing allogeneic hematopoietic cell transplantation: a 3-year GETMON experience.

We studied surveillance, incidence and outcome of viral infections in children undergoing allogeneic hematopoietic cell transplantation (HCT) in the main pediatric transplant units in Spain. We prospectively collected data from first year post-HCT in every consecutive allogeneic HCT performed during 3 years (N = 215): first HCT = 188 and second HCT = 27; median age = 6.6 years (0.