Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the gene. codes for a structural protein that plays a central role in the formation of the postsynaptic terminals and the maintenance of synaptic structures.

Ventilator-associated events in children: A multicentre prospective cohort study.

Background: The Centres for Disease Control and Prevention (CDC) broadened the focus of surveillance from ventilator-associated pneumonia to ventilator-associated event (VAE) for quality purposes. No paediatric definition of VAE (PaedVAE) has been accurately validated. We aimed to analyse the incidence and impact on patient outcomes resulting from the application of the adult and two paediatric VAE (PaedVAE) criteria.

Epidemiology, prevention and control of pertussis in Spain: New vaccination strategies for lifelong protection.

Pertussis is a highly contagious, vaccine-preventable respiratory tract infection, with high morbidity and mortality and a particularly severe effect on newborns and infants under 2 months. The first pertussis vaccines were introduced in the 1940s. Since 1980, however, the incidence of cases has risen despite the extensive vaccination programmes and antibiotic adjuvant treatments available.

Rituximab as Second-Line Treatment in Anti-NMDAR Encephalitis after Herpes Simplex Encephalitis in Children.

The long-term response of two infants with anti-N-methyl-D-aspartate receptor (anti-NMDAR) post herpes simplex encephalitis treated with rituximab is reported here. Rituximab may improve the course of the disease and should be considered early as second-line treatment. Data on the long-term effect of rituximab in B cell depletion and immunoglobulins levels in infants are needed.

Effects of prenatal exposure to maternal COVID-19 and perinatal care on neonatal outcome: results from the INTERCOVID Multinational Cohort Study.

Background: The effect of COVID-19 in pregnancy on maternal outcomes and its association with preeclampsia and gestational diabetes mellitus have been reported; however, a detailed understanding of the effects of maternal positivity, delivery mode, and perinatal practices on fetal and neonatal outcomes is urgently needed.

Objective: To evaluate the impact of COVID-19 on fetal and neonatal outcomes and the role of mode of delivery, breastfeeding, and early neonatal care practices on the risk of mother-to-child transmission.

Study Design: In this cohort study that took place from March 2020 to March 2021, involving 43 institutions in 18 countries, 2 unmatched, consecutive, unexposed women were concomitantly enrolled immediately after each infected woman was identified, at any stage of pregnancy or delivery, and at the same level of care to minimize bias.

Exploring the relationship between midwives' work environment, women's safety culture, and intent to stay.

Background: The shortage of midwives is a concern for healthcare systems as it compromises the quality maternity care. Various studies argue that a favorable work environment increases nurses' job satisfaction and intention to continue working at their current workplace.

Aim: To analyze the work environment and its relationship with women's clinical safety culture and midwives' intention to stay in their current job and the midwifery profession.

Juvenile Hemochromatosis due to a Homozygous Variant in the Gene.

Hemochromatosis type 2 or juvenile hemochromatosis has an early onset of severe iron overload resulting in organ manifestation such as liver fibrosis, cirrhosis, cardiomyopathy, arthropathy, hypogonadism, diabetes, osteopathic medicine, and thyroid abnormality, before age of 30. Juvenile hemochromatosis type 2a and 2b is an autosomal recessive disease caused by pathogenic variants in and genes, respectively. We report a child with hepatic iron overload and family history of hemochromatosis.

Vascular Disorders of Pregnancy Increase Susceptibility to Neonatal Pulmonary Hypertension in High-Altitude Populations.

Background: Preeclampsia and fetal growth restriction increase cardiopulmonary disease risk for affected offspring and occur more frequently at high-altitude (≥2500 m). Retrospective studies indicate that birth to a preeclampsia woman at high altitude increases the risk of pulmonary hypertension (PH) in later life. This prospective study asked whether preeclampsia with or without fetal growth restriction exaggerated fetal hypoxia and impaired angiogenesis in the fetal lung, leading to neonatal cardiopulmonary circulation abnormalities and neonatal or infantile PH.

Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center.

Background And Aims: Hereditary anemia (HA) encloses a wide group of rare inherited disorders with clinical and hematologic overlaps that complicate diagnosis.

Materials And Methods: A 48-gene panel was developed to diagnose HA by Next Generation Sequencing (NGS) in a large cohort of 165 patients from 160 unrelated families.

Results: Patients were divided in: A) patients who had a suspicion of a specific type of HA (n = 109), and B) patients who had a suspicion of HA but with no clear type (n = 56).

Neuroblastoma in Spain: Linking the national clinical database and epidemiological registries - A study by the Joint Action on Rare Cancers.

Purpose: Linkage between clinical databases and population-based cancer registries may serve to evaluate European Reference Networks' (ERNs) activity, by monitoring the proportion of patients benefiting from these and their impact on survival at a population level. To test this, a study targeting neuroblastoma (Nb) was conducted in Spain by the European Joint Action on Rare Cancers.

Material And Methods: Subjects: Nb cases, incident 1999-2017, aged < 15 years.

[Linear morphea in saber coup: about a case].

Linear morphea in coup de sabre is a dermatological entity characterized by progressive, sclerosing inflammation of the skin tissue in the frontal region and on the scalp. Headache and seizures are two of the most frequent extracutaneous symptoms and they are caused by the growth of the lesion towards underlying structures. An early diagnosis is important to stop cranial progression and try to avoid secondary complications, mainly neurological.

Venous thromboembolism in pediatric patients with acute lymphoblastic leukemia under chemotherapy treatment. Risk factors and usefulness of thromboprophylaxis. Results of LAL-SEHOP-PETHEMA-2013.

Introduction: Symptomatic venous thromboembolism (VTE) is diagnosed in 3%-14% of patients during pediatric acute lymphoblastic leukemia (ALL) therapy. There are well-known risk factors, but the role of others as inherited thrombophilia is still controversial. Prophylaxis with low molecular weight heparin (LMWH) has been described, but its use is not globally accepted.

Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).

Introduction: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a biallelic mutation of the SMN1 gene, located on the long arm of chromosome 5, and predominantly affects the motor neurons of the anterior horn of the spinal cord, causing progressive muscle weakness and atrophy. The development of disease-modifying treatments is significantly changing the natural history of SMA, but uncertainty remains about which patients can benefit from these treatments and how that benefit should be measured.

Methodology: A group of experts specialised in neurology, neuropediatrics, and rehabilitation and representatives of the Spanish association of patients with SMA followed the Delphi method to reach a consensus on 5 issues related to the use of these new treatments: general aspects, treatment objectives, outcome assessment tools, requirements of the treating centres, and regulation of their use.

Early high amino-acid intake is associated with hypophosphatemia in preterm infants.

Objective: To estimate the incidence of hypophosphatemia in preterm infants according to parenteral nutrition received and to evaluate associated risk factors.

Design: A prospective multicenter cohort study included 111 patients ≤ 1250 g (7 NICUs of the NEOCOSUR Network). Two groups were compared according to the amino-acid supply in the first 48 h: aggressive parenteral group ≥ 3 g/kg/day and standard parenteral group: <2.

Spanish National Registry of Paediatric Coeliac Disease: Changes in the Clinical Presentation in the 21st Century.

Objectives: Over the last several decades, there has been a tendency towards a predominance of less symptomatic forms of coeliac disease (CD) and an increase in the patient age at diagnosis. This study aimed to assess the clinical presentation and diagnostic process of paediatric CD in Spain.

Methods: A nationwide prospective, observational, multicentre registry of new paediatric CD cases was conducted from January 2011 to June 2017.

Analysis of complications in intraventricular neuroendoscopy in children: proposal for a standardization system.

Although intraventricular neuroendoscopy is considered a minimally invasive technique with good results, there is nevertheless a risk of developing certain complications. As no agreement apparently exists concerning the classification of these complications, we aim to propose a form of classification based on the results of our series, comparing them with recent publications. We undertook a retrospective study of 170 children who underwent intraventricular neuroendoscopy between 2003 and September 2020 at our center.

Evaluating stability of attenuated Sabin and two novel type 2 oral poliovirus vaccines in children.

Novel oral poliovirus vaccine type 2 (nOPV2) is being developed to reduce the rare occurrence of disease and outbreaks associated with the genetic instability of the Sabin vaccine strains. Children aged 1 to 5 years were enrolled in two related clinical studies to assess safety, immunogenicity, shedding rates and properties of the shed virus following vaccination with nOPV2 (two candidates) versus traditional Sabin OPV type 2 (mOPV2). The anticipated pattern of reversion and increased virulence was observed for shed Sabin-2 virus, as assessed using a mouse model of poliovirus neurovirulence.

Prenatal therapy with magnesium sulphate and intestinal obstruction due to meconium in preterm newborns.

Introduction: Magnesium sulphate (MgSO) therapy has shown to be useful as a neurological protector in the preterm newborn below 32 weeks of gestation. The most documented adverse effect is cardiorespiratory failure, whereas its relationship with meconium obstruction is controversial. The main objective of this study was to analyse the possible association between prenatal MgSO therapy and meconium obstruction.

Clinical Efficacy and Safety of Fanhdi, a Plasma-Derived VWF/Factor VIII Concentrate, in von Willebrand Disease in Spain: A Retrospective Study.

Objective: To evaluate the efficacy and safety of a plasma-derived factor VIII concentrate containing von Willebrand Factor (pdVWF/FVIII) in standard clinical practice in von Willebrand Disease (VWD) patients.

Methods: A retrospective, multicentric, observational study of VWD patients treated with Fanhdi, a pdVWF/FVIII concentrate, from January 2011 to December 2017 was conducted at 14 centers in Spain. Efficacy and safety were evaluated for acute bleeding episodes, for prevention of bleeding in surgeries, and for secondary long-term prophylaxis.

Prediction of Insulin Resistance Based on Anthropometric and Clinical Variables in Children with Overweight or Obesity at a Tertiary Center in Northeast Mexico.

This study provides a clinical model to identify children with insulin resistance (IR) in health care units where laboratory tests are not readily available. A retrospective study of Mexican children aged 2-16 years at an obesity (OB) clinic. A receiver operating characteristic (ROC) curve was used to assess the accuracy of the proposed model consisting of clinical parameters and to establish the cutoff value for the variables (439 children).

[Guidelines for diagnosis and follow-up of children and adolescents with portal hypertension].

Portal hypertension is a complex syndrome caused by increased resistance to the splachnic venous flow at the portal vein level, with a hyperdynamic systemic circulation characterized by peripheral vasodilation and high cardiac output. Portal flow can be obstructed at prehepatic (¨normal liver¨), intrahepatic (as in cirrhosis), or post-hepatic level (as in Budd-Chiari syndrome). In pediatric patients, prehepatic and intrahepatic causes are almost equally distributed (nearly 50% each).

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Background And Objectives: Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the clinical utility of singleton whole-exome sequencing and whole-genome sequencing (sWES-WGS) interpreted with a phenotype- and interactome-driven prioritization algorithm to diagnose GWMD while identifying novel phenotypes and candidate genes.

Characterization of Mutations Causing CYP21A2 Deficiency in Brazilian and Portuguese Populations.

Deficiency of 21-hydroxylase enzyme (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects in cortisol biosynthesis. Computational prediction and functional studies are often the only way to classify variants to understand the links to disease-causing effects. Here we investigated the pathogenicity of uncharacterized variants in the CYP21A2 gene reported in Brazilian and Portuguese populations.