Differential diagnosis and comparison of diagnostic algorithms in children and adolescents with autoimmune encephalitis in Spain: a prospective cohort study and retrospective analysis.

Background: The usefulness of current diagnostic approaches in children with suspected autoimmune encephalitis is unknown. We aimed to assess the diagnosis of autoimmune encephalitis in clinical practice and to compare the performance of two international diagnostic algorithms (one intended for patients of any age [general], the other intended for paediatric patients), with particular emphasis on the evaluation of patients with probable antibody-negative autoimmune encephalitis because this diagnosis suggests that immunotherapy should be continued or escalated but is difficult to establish.

Methods: We did a prospective cohort study that included all patients (<18 years of age) with suspected autoimmune encephalitis recruited at 40 hospitals in Spain whose physicians provided clinical information every 6 months for 2 years or more.

Adult height in girls with idiopathic central precocious puberty treated with triptorelin.

Objective: Idiopathic central precocious puberty (CPP) precipitates epiphyseal fusion of growth plates in long bones, leading to reduced adult stature. Gonadotropin-releasing hormone analogues (GnRHa) are the treatment of choice for idiopathic CPP, but their benefit on height gain is unclear. We aimed to elucidate the effects of GnRHa treatment on adult height in girls with idiopathic CPP.

Nurses' knowledge of paediatric palliative care in a children's hospital.

Background: Effective training of health professionals is essential to end-of-life care.

Aims: To explore the level of knowledge on paediatric palliative care (PPC) of nurses in a children's monographic hospital.

Methods: Cross-sectional observational analytical study.

The Bronchodilator and Anti-Inflammatory Effect of Long-Acting Muscarinic Antagonists in Asthma: An EAACI Position Paper.

As cholinergic innervation is a major contributor to increased vagal tone and mucus secretion, inhaled long-acting muscarinic antagonists (LAMA) are a pillar for the treatment of chronic obstructive pulmonary disease and asthma. By blocking the muscarinic receptors expressed in the lung, LAMA improve lung function and reduce exacerbations in asthma patients who remained poorly controlled despite treatment with inhaled corticosteroids and long-acting β2 agonists. Asthma guidelines recommend LAMA as a third controller to be added on before the initiation of biologicals.

Sonographic Characterization of Red-Blue Neurofibromas in Patients With Neurofibromatosis Type 1: An Observational Prospective Study.

Objectives: Red-blue neurofibromas (RBNs), found in up to 29% of adult neurofibromatosis type 1 (NF1) patients, present as red-blue macules measuring 1-2 cm in diameter, primarily on the trunk. Despite their prevalence, RBNs often go unnoticed due to their subtle appearance. Ultrasound characterization serves as a diagnostic clue yet lacks comprehensive studies in both adult and pediatric populations.

Microspherophakia associated with congenital miosis: Coincidence or causality?

Congenital miosis and microspherophakia are rare congenital disorders of the anterior chamber that are associated with multiple other ophthalmological and systemic pathologies or disorders. Nevertheless, the association of both entities have not been described yet. We present the case of a 2-years-old patient without other relevant medical history that presented with high myopia secondary to microspherophakia and associated with congenital miosis.

Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.

Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.

Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.

Anatomo-Electro-Clinical Phenotypes in Children With Epilepsy and DYNC1H1 Mutations.

Background: Pathogenic variants in DYNC1H1, which encodes the cytoplasmic dynein 1 heavy chain 1, have been linked to a wide range of neurological syndromes.

Methods: We analyzed clinical data, video-electroencephalography, neuroimaging features, and genetic results in four patients with pathogenic variants in this gene.

Results: A comprehensive description of distinct neuroimaging and neurophysiological hallmarks that can aid in the recognition of these conditions is provided.

Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD study.

Background And Objective: Prevalence studies of acid sphingomyelinase deficiency (ASMD) are scarce and different in Spain. The objective of the present study was to determine the estimated prevalence of patients diagnosed with ASMD (types A/B and B) in Spain.

Material And Methods: PREVASMD was a descriptive, multicenter, and ecological study involving 21 physicians from different specialties (mainly Internal Medicine, Paediatrics and Hematology), of different autonomous communities, with experience in ASMD management.

Upadacitinib for Induction of Remission in Pediatric Ulcerative Colitis: An International Multi‑center Study.

Background And Aims: Data on upadacitinib therapy in children with ulcerative colitis (UC) or unclassified inflammatory bowel disease (IBD-U) are scarce. We aimed to evaluate the effectiveness and safety of upadacitinib as an induction therapy in pediatric UC or IBD-U.

Methods: In this multicenter retrospective study, children treated with upadacitinib for induction of remission of active UC or IBD-U from 30 centers worldwide were enrolled.

A prospective observational study on microbiological isolation in low-profile gastrostomy's feeding extension sets in children on long-term home enteral nutrition.

Background: Although reuse of enteral feeding equipment has been linked to risk of microbial contamination and risk of infection, there is a paucity of research in this area. Per the manufacturer's instructions low-profile gastrostomy feeding extension sets (LPG-FES) may be reusable for the same patient, but there are no recommendations on replacement intervals.

Methods: We conducted a prospective observational study to analyze and compare the contamination rate of LPG-FES after 15 (T1) and after 30 days (T2) of regular use.

Polymorphisms of the Vitamin D Binding Protein (VDBP) and Free Vitamin D in Patients with Cystic Fibrosis.

Objectives/background: Vitamin D-binding protein (VDBP) and free vitamin D are new markers that are being studied as a possible markers of vitamin D status. The main aim of our study was to analyze the VDBP genotype and quantify the levels of free vitamin D in a sample of cystic fibrosis (CF) patients.

Methods: We conducted a multicenter, cross-sectional, and prospective study including patients with CF and exocrine pancreatic insufficiency who were clinically stable.

Novel Fibroblast Growth Factor Receptor 3-Fatty Acid Synthase Gene Fusion in Recurrent Epithelioid Glioblastoma Linked to Aggressive Clinical Progression.

Glioblastoma (GBM) is the most common primary malignant brain tumor in adults, with a median overall survival (OS) of 15-18 months despite standard treatments. Approximately 8% of GBM cases exhibit genomic alterations in fibroblast growth factor receptors (FGFRs), particularly FGFR1 and FGFR3. Next-generation sequencing techniques have identified various FGFR3 fusions in GBM.

Automated insulin delivery systems in the treatment of diabetes: Benefits, challenges, and practical considerations in pediatric patients.

At present, the majority of patients with type 1 diabetes mellitus do not achieve the recommended glycemic control goals to reduce the risk of acute and chronic complications. Hybrid closed-loop systems or automated insulin infusion systems emerged as an opportunity to improve metabolic control, quality of life and reduce the psychosocial impact of type 1 diabetes. This article analyzes the evidence regarding their effectiveness and safety, the challenges they pose and best practices to optimize results when implemented in clinical practice.

Hypothalamic obesity: from basic mechanisms to clinical perspectives.

Despite the diverse nature of obesity, there is compelling genetic, clinical, and experimental evidence that endorses the important contribution of brain circuits to this condition. The hypothalamus contains major regulatory circuits for bodyweight homoeostasis, the deregulation of which can lead to obesity. Although functional perturbation of hypothalamic pathways could lie at the basis of common forms of obesity, the term hypothalamic obesity has been created to define those rare forms of severe obesity where a clear hypothalamic substrate can be identified, either of genetic or acquired origin.

The Multiple Facets of Cow's Milk Allergy.

Cow's milk allergy (CMA) is one of the most common food allergies in early childhood. CMA has varied presentations and multiple facets. A detailed clinical history is key for classification.