Hospital Sant Joan de Déu Barcelona

Congenital Diaphragmatic Hernia Requiring ECMO: Current Evidence, Controversies, and Unresolved Questions

Background/Objectives: Congenital diaphragmatic hernia (CDH) requiring extracorporeal membrane oxygenation (ECMO) remains one of the most challenging conditions in neonatal critical care. Despite advances in prenatal assessment and neonatal management, substantial uncertainty per...

Pediatric Infectious Encephalitis in Spain

BACKGROUND: Pediatric infectious encephalitis remains a significant cause of neurologic morbidity. Prompt antiviral treatment is recommended in patients with suspected herpes simplex virus (HSV) encephalitis. This study aimed to describe the epidemiology and outcomes of infectiou...

Invasive Bacterial Infections Other Than Escherichia coli and Streptococcus agalactiae in Febrile Infants Younger Than 90 Days

BACKGROUND: Invasive bacterial infections (IBIs) in febrile infants ≤90 days are mostly caused by Escherichia coli and Streptococcus agalactiae. However, data on IBIs caused by other pathogens remain limited. METHODS: We conducted a multicenter retrospective study of febrile infa...

Assisted Reproductive Technology and Risk of Congenital Heart Defects in the Offspring: A Systematic Review and Meta‐Analysis

Background To date, >10 million children have been conceived via assisted reproductive technology (ART) globally. However, there are some concerns about potential adverse outcomes associated with ART‐conceived pregnancies, including the risk of congenital heart defects (CHDs). Th...

Interference by macro-B12: multicenter evaluation of polyethylene glycol precipitation and establishment of reference intervals using four different immunoassay methods

Abstract Objectives Macro-B12 interference is an underestimated cause of hypercobalaminemia that may lead to misleading clinical interpretations. The aims of this study were to evaluate the diagnostic performance of polyethylene glycol (PEG) precipitation for the detection of mac...

Digital solutions for tackling mental health in cancer patients and their families: The ALTHEA project

Despite advances in cancer treatment, the growing global cancer burden underscores the need for comprehensive and supportive care to address the needs of patients and their families. However, access to psycho-oncological support remains often limited across healthcare systems. Th...

Comparative analysis of maternal diet and its individual compounds in pregnancies with and without preeclampsia

Maternal diet during pregnancy may influence maternofoetal outcomes, including the occurrence of preeclampsia. The objective was to assess the association of maternal adherence to a Mediterranean diet pattern with preeclampsia, and the correlation with surrogate makers of the dis...

HIV-1 Drug Resistance in Mother–Infant Pairs in Southern Mozambique

This prospective nested cohort (EARTH) study evaluated drug resistance mutations and outcomes among 79 (31 with genetic results) early-treated Mozambican children living with HIV, followed for 50 months. Mortality reached 20.3%. Drug resistance mutations were detected in 58.1% of...

Efficacy and Safety of Risankizumab in Paediatric Patients With Psoriasis in the OptIMMize-1 Phase III Study.

BACKGROUND: Treatment options for paediatric patients with psoriasis are limited, and additional, more advanced therapies are needed. Risankizumab is an interleukin-23 inhibitor approved to treat moderate-to-severe psoriasis in adults. OBJECTIVES: To evaluate efficacy and safety...

Genome-wide analysis of social behaviour across social domains, reporters and developmental stages: a meta-regression approach

Abstract Social behaviour is a heritable trait linked to well-being and mental health, yet it varies across social context, including social domains, informants and development, which may shape its underlying genomic architecture. Here, we conducted a genome-wide meta-regression...

Advancing cancer care for adolescents and young adults: the role of the European Network of Expertise

Adolescents and young adults (AYAs, aged 15-39 years at cancer diagnosis) are recognized as a distinct patient group with specific clinical and psychosocial needs requiring tailored care. This article presents the Network of Expertise (NoE) on AYAs with cancer developed through t...

CNS distribution and preclinical activity of the PI3K/AKT inhibitors inavolisib and ipatasertib in pediatric-type diffuse high-grade gliomas

Abstract Purpose Pediatric-type diffuse high-grade gliomas (pHGG) are aggressive, largely incurable malignancies often characterized by PI3K/AKT pathway activation. This study investigated whether the PI3K inhibitor inavolisib and the AKT inhibitor ipatasertib could achieve thera...

Comparative analysis of blood inflammatory profile and intestinal microbiota in late-fetal growth restriction vs. normal pregnancy

To determine the association of blood inflammatory biomarkers and intestinal microbiota composition in women with late-onset fetal growth restriction. Fetal growth restriction (FGR) is a pathological condition in which fetus fails to achieve its genetically determined growth pote...

Clinical and Radiological Outcomes of Organising Pneumonia Secondary to COVID-19: A 2-Year Longitudinal Cohort Study

Background: Organising pneumonia secondary to COVID-19 (OP-COVID-19) is a recognised inflammatory complication of SARS-CoV-2 infection. We assessed the 2-year clinical, radiological, and functional evolution of patients hospitalised with OP-COVID-19 and identified factors indepen...

Accuracy of Virtual Surgical Planning in Le Fort III Distraction Osteogenesis: A 3-Dimensional Evaluation of Planned and Achieved Outcomes

BACKGROUND: Syndromic hypoplasia of the midface can be addressed by Le Fort III osteotomy. Three-dimensional planning tools and cutting guides have the potential to facilitate the design of Le Fort III osteotomy and distraction vectors, anticipate potential challenges, and mitiga...

Presence of Dolosigranulum pigrum in the nasopharynx and its relationship with respiratory health status in paediatric population

ABSTRACT Background Respiratory tract infections range from asymptomatic colonisation to an invasive disease. Recent studies suggest that nasopharyngeal microbiota may influence this variability. Emerging evidence points to Dolosigranulum pigrum, a nasopharyngeal commensal, as a...

Treating a Disorder Caused by an Overactive Enzyme: BCKD‐Kinase Deficiency

ABSTRACT Branched‐chain ketoacid dehydrogenase kinase (BCKDK) deficiency is a rare autosomal recessive disorder. Loss of this kinase leaves the branched‐chain α‐ketoacid dehydrogenase complex constitutively active, leading to depletion of branched‐chain amino acids (BCAAs) rather...

Clinical Variability and Genotype‐Driven Outcomes in CHRND ‐Related Congenital Myasthenic Syndrome

BACKGROUND: Congenital myasthenic syndromes (CMS) caused by pathogenic variants in CHRND, encoding the δ-subunit of the nicotinic acetylcholine receptor (AChR), are rare, and data on genotype-phenotype correlations and long-term outcomes are limited. METHODS: We performed a retro...

Protocol for a feasibility randomized controlled pilot trial evaluating a teacher program to support preschool children with autism and language delay

Abstract Background Early intervention in naturalistic settings is essential for supporting young children with difficulties within the autism spectrum. In recent decades, there has been an increasing inclusion of children with developmental problems in mainstream schools. Howeve...

Partial symptom remission in occupational pesticide-related parkinsonism: a case report

Parkinson’s disease (PD) is a progressive neurodegenerative disorder in which environmental exposures, particularly pesticides, are increasingly recognized as relevant risk factors. Chronic occupational pesticide exposure has been associated with increased PD risk, yet clinical i...