Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.

Background and objectives: Glycerol phenylbutyrate (GPB) has demonstrated safety and efficacy in patients with urea cycle disorders (UCDs) by means of its clinical trial program, but there are limited data in clinical practice. In order to analyze the efficacy and safety of GPB in clinical practice, here we present a national Spanish experience after direct switching from another nitrogen scavenger to GPB. Methods: This observational, retrospective, multicenter study was performed in 48 UCD patients (age 11.

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.

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.

Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric Peruvian patients.

Background: A high frequency of primary central nervous system (CNS) sarcomas was observed in Peru. This article describes the clinical characteristics, biological characteristics, and outcome of 70 pediatric patients.

Methods: Data from 70 pediatric patients with primary CNS sarcomas diagnosed between January 2005 and June 2018 were analyzed.

Effect of Maternal and Fetal Characteristics in Feto-Placental Doppler and Impact of Using Adjusted Standards in the Definition of Fetal Growth Restriction at Term.

Introduction: This study aimed to determine the effect and clinical impact of physiological characteristics on the 95th/5th centile of the umbilical artery (UA) Doppler and the cerebroplacental ratio (CPR), at 36+ weeks.

Methods: From the multicenter randomized trial "Ratio37," we selected 4,505 low-risk pregnant women between June 2016 and January 2020. We registered physiological characteristics and the pulsatility indexes (PI) of the UA and middle cerebral artery (36-39 weeks).

Study of the Interaction between Executive Function and Adaptive Behavior at School in Girls with Fragile X Syndrome.

The aim of this research is to analyze the relationship between executive functions and adaptive behavior in girls with Fragile X syndrome (FXS) in the school setting. This study is part of a larger investigation conducted at the Hospital Parc Tauli in Sabadell. The sample consists of a total of 40 girls (26 with FXS and 14 control) aged 7-16 years, who were administered different neuropsychological tests (WISC-V, NEPSY-II, WCST, TOL) and questionnaires answered by teachers (ABAS-II, BRIEF 2, ADHD Rating Scale).

Pilot study of socio-emotional factors and adaptive behavior in young females with fragile X syndrome.

Girls with Fragile-X-Syndrome (FXS) present high levels of social anxiety, social avoidance, extreme shyness, tendency to social isolation, poor eye contact, learning difficulties, and depression. The aims of the present study, which is based on a group of young females with FXS are: 1) to analyze the possible associations between emotion recognition, theory of mind, and social anxiety, and adaptive behavior, and emotional state; 2) to study the relationship between intelligence quotient (IQ) and adaptive behavior; and 3) to assess whether social anxiety is more prevalent in girls with FXS. The study has 40 female participants aged between 7 and 16 years (26 positive full mutation FXS and 14 as a control group).

Surveillance for Enteroviruses Associated with Hand, Foot, and Mouth Disease, and Other Mucocutaneous Symptoms in Spain, 2006-2020.

Hand, foot, and mouth disease (HFMD) is a mild illness caused by enteroviruses (EV), although in some Asian countries, large outbreaks have been reported in the last 25 years, with a considerable incidence of neurological complications. This study describes epidemiological and clinical characteristics of EV infections involved in HFMD and other mucocutaneous symptoms from 2006 to 2020 in Spain. EV-positive samples from 368 patients were included.

Fragile X syndrome in young females: Influence of executive function on the neurocognitive profile and adaptive behavior.

Introduction: The aim of this study is to describe the relationship between executive function (EF) and performance in different areas of the neurocognitive profile in young girls with Fragile-X-Syndrome (FXS).

Method: A neuropsychological assessment was carried out to 40 female participants aged 7-16 years (26 FXS, 14 control group).

Results: Regarding intellectual ability, in the group of girls with FXS 3.

Language in young females with fragile X syndrome: Influence on the neurocognitive profile and adaptive behavior.

Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability. The objective of this research is to analyze the relationship between linguistic functions and performance of the following neuropsychological functions: executive, quantitative reasoning, social perception, behavior, social skills, and adaptive behavior. A neuropsychological and behavioral evaluations were carried out with a group of 26 girls with FXS, and 14 girls without FXS as a control group, using standardized tests.

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy.

Methyl-CpG-binding protein 2 (MeCP2) is an X-linked epigenetic modulator whose dosage is critical for neural development and function. Loss-of-function mutations in cause Rett Syndrome (RTT, OMIM #312750) while duplications in the Xq28 locus containing and Interleukin-1 receptor-associated kinase 1 () cause duplication syndrome (MDS, OMIM #300260). Both are rare neurodevelopmental disorders that share clinical symptoms, including intellectual disability, loss of speech, hand stereotypies, vasomotor deficits and seizures.

Cross-cultural adaptation of the sinus and nasal quality of life survey (SN-5) to Spanish.

Objective: There is a high prevalence for rhinitis with an increasing trend. However, there is a lack of specific quality of life pediatric questionnaires for sinonasal symptoms. The Sinus and Nasal Quality of Life Survey (SN-5) is the only validated instrument specifically designed with this objective.

Bullying Victimization in Young Females with Fragile-X-Syndrome.

The aim of this study is to investigate the risk associated with girls with fragile X syndrome (FXS) suffering bullying in the role of a victim and its effects on their adaptive behavior, socialization style, and emotional state. A neuropsychological assessment was carried out on a sample of 40 participants (26 FXS positive and 14 control group) using the following instruments: WISC-V, SENA, BAS-2, ABAS-II. The results show that the group of girls with FXS presented higher ratios of lack of social support and isolation from classmates.

Capillary malformation-arteriovenous malformation syndrome: a multicentre study.

Background: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a rare syndrome with characteristic skin lesions that are associated with fast-flow vascular malformations (FFVMs) in one-third of patients. Few case series have been described, and none in Spain.

Aim: To identify the prevalence of dermatological parameters, FFVMs and associated features in a large series of patients with CM-AVM.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.

Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long-term therapy of individuals with urea cycle disorders (UCDs), involve the risk of iatrogenic growth failure. Limited evidence-based studies hamper our knowledge on the long-term effects of the proposed medical management in individuals with UCDs. We studied the impact of medical management on growth and weight development in 307 individuals longitudinally followed by the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD).

Prescriptive Reference Standards of Third-Trimester Cerebroplacental Ratio and Its Physiological Determinants.

Objective: To construct valid reference standards reflecting optimal cerebroplacental ratio and to explore its physiological determinants.

Methods: A cohort of 391 low-risk pregnancies of singleton pregnancies of nonmalformed fetuses without maternal medical conditions and with normal perinatal outcomes was created. Doppler measurements of the middle cerebral artery and umbilical artery were performed at 24-42 weeks.

Blinatumomab and inotuzumab for B cell precursor acute lymphoblastic leukaemia in children: a retrospective study from the Leukemia Working Group of the Spanish Society of Pediatric Hematology and Oncology (SEHOP).

Blinatumomab and inotuzumab ozogamycin represent promising alternatives to conventional chemotherapy in acute lymphoblastic leukaemia (ALL). We analysed data from 29 children with ALL treated under compassionate use with blinatumomab, inotuzumab or both. The complete remission (CR) rate in a heavily pretreated population with overt relapse was 47·6%.

Update of the Spanish registry of haemoglobinopathies in children and adults.

Background And Objective: Patients with thalassaemia major (TM) and sickle cell disease (SCD) in Spain have been counted since the creation of the Spanish registry of haemoglobinopathies (REHem). The objective of this paper is to update the published data after the increase in cases due to the inclusion of adults and introduction of new-born screening in almost the whole country.

Material And Methods: An observational, descriptive, multicentre and ambispective study that included patients with haemoglobinopathies registered in the REHem, started in January 2014 and followed up annually.

Prediction of poor outcome in Clostridioides difficile infection: A multicentre external validation of the toxin B amplification cycle.

Classification of patients according to their risk of poor outcomes in Clostridioides difficile infection (CDI) would enable implementation of costly new treatment options in a subset of patients at higher risk of poor outcome. In a previous study, we found that low toxin B amplification cycle thresholds (C) were independently associated with poor outcome CDI. Our objective was to perform a multicentre external validation of a PCR-toxin B C as a marker of poor outcome CDI.