Neuroblastoma Occurring in Nijmegen Breakage Syndrome.

Nijmegen breakage syndrome (NBS) is a rare primary immunodeficiency disease due to a pathogenic variant in the NBN gene causing impaired DNA repair and increased predisposition for lymphoid malignancy. By contrast, solid tumors have been rarely reported. Neuroblastoma (NB) is a rare childhood solid tumor, associated with the worse outcome if MYCN oncogene is amplified.

- a large-scale dataset of 3D medical shapes for computer vision.

Objectives: The shape is commonly used to describe the objects. State-of-the-art algorithms in medical imaging are predominantly diverging from computer vision, where voxel grids, meshes, point clouds, and implicit surface models are used. This is seen from the growing popularity of ShapeNet (51,300 models) and Princeton ModelNet (127,915 models).

Persistence, severity and reactivity thresholds in fish allergic patients sensitized to parvalbumin.

Background: Fish allergy affects children and adults worldwide and there are transient and persistent phenotypes.

Objective: We aimed to analyze persistence, severity and reactivity thresholds in challenge-confirmed fish allergic patients sensitized to parvalbumin.

Methods: Patients 12-65 years-old reporting immediate reactions to fish, with fish skin prick test ≥5 mm and IgE to cod and carp β-parvalbumins ≥0.

Exercise-induced bronchoconstriction in children: Delphi study and consensus document about definition and epidemiology, diagnostic work-up, treatment, and follow-up.

Background: Exercise-induced bronchoconstriction (EIB) is common in children with asthma but can be present also in children without asthma, especially athletes. Differential diagnosis includes several conditions such as exercise-induced laryngeal obstruction (EILO), cardiac disease, or physical deconditioning. Detailed medical history, clinical examination and specific tests are mandatory to exclude alternative diagnoses.

Adaptation/Validity-reliability Evaluation of Menstruel Bleeding Questionnaire to Turkish Adolescent Girls.

Objective: The Menstrual Bleeding Questionnaire(MBQ) is a scale developed to identify women with heavy menstrual bleeding(HMB) and to assess its impact on quality of life. The aim of our study was to evaluate the validity and reliability of the Turkish adaptation of this scale for the adolescent age group.

Material-method: MBQ was translated into Turkish and adapted to adolescent age.

Hymenoptera venom allergy in children.

From a taxonomic point of view, Hymenoptera are subclassified into families: Apidae, including honeybees (Apis mellifera) and bumblebees (Bombus), and Vespidae, which, in turn, are divided into the subfamilies of Vespinae (wasps, including hornets, vespules, dolichovespules) and Polistinae (paper wasp). Hypersensitivity to Hymenoptera venom can be linked to immunological (IgE-mediated or non-IgE-mediated) and non-immunological mechanisms. Reactions are classified into local reactions, large local reactions, systemic reactions, toxic reactions, and unusual reactions.

Insights into pubertal development: a narrative review on the role of epigenetics.

Purpose: Puberty is a key phase of growth and development, characterized by psychophysical transformations. It is driven by a combination of genetic, hormonal, and environmental variables. Epigenetic mechanisms, including histone post-translational modifications and chromatin remodeling, microRNAs, and DNA methylation, play important roles in orchestrating the developmental processes.

The carbonyl nucleobase adduct MAde is a potent antigen for adaptive polyclonal MR1-restricted T cells.

The major histocompatibility complex (MHC) class I-related molecule MHC-class-I-related protein 1 (MR1) presents metabolites to distinct MR1-restricted T cell subsets, including mucosal-associated invariant T (MAIT) and MR1T cells. However, self-reactive MR1T cells and the nature of recognized antigens remain underexplored. Here, we report a cell endogenous carbonyl adduct of adenine (8-(9H-purin-6-yl)-2-oxa-8-azabicyclo[3.

Quality of life and social characteristics of young adults in chronic hemodialysis with pediatric-onset renal disease.

Introduction. Health-related quality of life (HRQL) and its social consequences have not been evaluated in adults who started renal replacement therapy (RRT) in childhood/adolescence and are currently on hemodialysis. Population and methods.

Telemedicine for Managing Type 1 Diabetes in Children and Adolescents Before and After the COVID-19 Pandemic.

The COVID-19 pandemic has catalyzed the rapid expansion of telemedicine for managing chronic conditions such as type 1 diabetes (T1D) in children and adolescents. This narrative review aims to explore the role of telemedicine in pediatric T1D management by comparing its use before and after the pandemic. We conducted a comprehensive literature review covering studies published between 2000 and 2024, focusing on telemedicine applications in pediatric T1D care.

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.

Factors influencing the acceptability of automated insulin delivery systems in youths with type 1 diabetes and their parents.

Aims: New technology has been reported as a factor driving people to choose an automatic insulin delivery system (AIDs) and to sustain its acceptance. We aimed to explore the role of continuous glucose monitoring (CGM) technology (instant scanning vs. real-time) and insulin treatment modality to determine the future acceptance of AIDs among T1D individuals.

Epidemiology of asthma across the ages.

In the last three decades, the overall prevalence of asthma appears to be plateauing, although large geographical and socioeconomic variation is evident. Overall, asthma prevalence slightly decreased in most age groups, except for school-aged children. Of note, asthma mortality steadily decreased, potentially highlighting improved asthma management strategies.

Differences between echocardiography and cardiac nuclear magnetic resonance parameters in children with bicuspid aortic valve-related aortopathy.

Objectives: The bicuspid aortic valve (BAV) is the most common congenital heart defect. Patients with BAV frequently develop aortopathy, which depends on the dysfunction and morphotype of the BAV.

Aim: The aim of our study was to compare the echocardiography and cardiac magnetic resonance (CMR) findings in BAV patients, and to define the risks of BAV dysfunction and aortopathy.

"Higher renal net acid, but not higher phosphate excretion during growth associates with lower adult circulating uromodulin".

Objective: Uromodulin is the most abundant urinary protein in healthy subjects which under physiological conditions protects against kidney stone formation. Acid-base imbalances, especially states with acidic urine, increase the risk for uric acid and oxalate stones, but lower it for phosphate-containing stones. Whether habitual high acid loads and high dietary phosphorus intake (P-In) themselves may influence plasma uromodulin concentrations in the long-term is not known.

SPISE INDEX (Single point insulin sensitivity estimator): indicator of insulin resistance in children and adolescents with overweight and obesity.

Background: Insulin resistance in children and adolescents with obesity is linked to increased risk of type 2 diabetes mellitus and cardiovascular disease. The SPISE index, based on values of fasting triglycerides (mg/dL), HDL cholesterol (mg/dL), and BMI (kg/m2), shows promise in predicting insulin resistance in children.

Methods: This study aimed to identify a SPISE cut-off for detecting insulin resistance and evaluate its relationship with pubertal development, anthropometrics, and glycometabolic profile in 232 children and adolescents, 105 males and 127 females (median age 13.

Duration of food protein-induced allergic proctocolitis (FPIAP) and the role of intestinal microbiota.

Background: Food protein-induced allergic proctocolitis (FPIAP) is the leading cause of rectal bleeding in infants. Tolerance is presumed to develop until the first year of age, although natural history studies are scarce, making the determination of the ideal duration for any intervention, challenging. Intestinal microbiota (IM) is crucial in food allergy development; however, data for FPIAP remain limited.

Ultrasound-guided management of tuberculosis-related pleural effusion in a pediatric patient: A case report and literature review.

Tuberculosis (TB) remains a significant global health challenge, particularly within pediatric populations. This article reports the case of a 7-year-old female patient admitted with massive fibrinous pleural effusion secondary to TB, highlighting the key role of ultrasound in disease monitoring and therapeutic guidance. The patient presented with fever, cough, and abdominal pain.

Real-world assessment of reinfection with SARS-CoV-2: Implications for vaccines.

Background: There have been over 670 million confirmed cases of SARS-CoV-2 infection globally, resulting in over 6.87 million deaths. With approximately 0.

Long-term safety and effectiveness of a somatropin biosimilar (Omnitrope) in children requiring growth hormone therapy: analysis of final data of Italian patients enrolled in the PATRO children study.

Purpose: Omnitrope (a somatropin biosimilar), used to treat growth disturbances, is considered to have a good safety profile in children. Here, we present the analysis of final data of the Italian cohort of the PAtients TReated with Omnitrope (PATRO) Children study.

Methods: This multicenter, open-label, longitudinal, post-marketing surveillance study enrolled eligible children during 2010-2018.

Allergic rhinitis management: a Delphi Consensus promoted by the Italian Society of Pediatric Allergy and Immunology (SIAIP).

Allergic rhinitis (AR) is the most frequent IgE-mediated disease, mainly in children and adolescents. Management of AR in the pediatric age may be heterogeneous, and the available guidelines do not adequately consider this issue. As a result, the Italian Society of Pediatric Allergy and Immunology (SIAIP) promoted a Delphi Consensus to define and evaluate the most relevant aspects of AR management in the pediatric setting in Italy.

Gut microbiota markers in early childhood are linked to farm living, pets in household and allergy.

Background: Children growing up on farms or with pets have a lower risk of developing allergy, which may be linked to their gut microbiota development during infancy.

Methods: Children from the FARMFLORA birth cohort (N = 65), of whom 28 (43%) lived on a dairy farm and 40 (62%) had pets, provided fecal samples at intervals from 3 days to 18 months of age. Gut microbiota composition was characterized using quantitative microbial culture of various typical anaerobic and facultatively anaerobic bacteria, with colonization rate and population counts of bacterial groups determined at the genus or species level.