Publications by authors named "Marseglia G"

Hypertrophic cardiomyopathy (HCM) is rare in childhood, but it is associated with significant morbidity and mortality. Genetic causes of HCM are mostly related to sarcomeric genes abnormalities; however, syndromic, metabolic, and mitochondrial disorders play an important role in its etiopathogenesis in pediatric patients. We here describe a new case of apparently isolated HCM due to mitochondrial assembly factor gene NDUFAF1 biallelic variants (c.

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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.

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Pidotimod is a synthetic dipeptide that exerts immunomodulatory activity, modifying innate and adaptive immunity. Pidotimod firstly acts on Toll-like receptors, then on antigen-presenting cells and other immunocompetent cells. Pidotimod also affects immunoglobulin production and their switching.

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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.

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Background: Asthma exacerbations in children pose a significant burden on healthcare systems and families. While traditional risk assessment tools exist, artificial intelligence (AI) offers the potential for enhanced prediction models.

Objective: This study aims to systematically evaluate and quantify the performance of machine learning (ML) algorithms in predicting the risk of hospitalisation and emergency department (ED) admission for acute asthma exacerbations in children.

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Sore throat represents one of the main causes of antibiotic overprescription in children. Its management is still a matter of debate, with countries considering streptococcal pharyngotonsillitis a benign and self-limiting condition and others advocating for its antibiotic treatment to prevent suppurative complications and acute rheumatic fever. Italian paediatricians frequently prescribe antibiotics on a clinical basis regardless of microbiological results.

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Background: Acute post-viral cough (APVC) is a disturbing complaint that may also affect the quality of life. As a result, APVC requires an adequate managing with antitussive medications. In this regard, levodropropizine is an effective and safe peripheral antitussive drug.

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Community-acquired pneumonia (CAP) is an acute infection of the lung parenchyma acquired outside the hospital or other healthcare settings, typically affecting previously healthy individuals. This intersociety consensus aims to provide evidence-based recommendations for the antibiotic treatment of mild to moderate CAP in previously healthy children in Italy.A systematic review was conducted to identify the most recent and relevant evidence.

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Article Synopsis
  • Allergic rhinitis (AR) is common among children, prompting the Italian Society of Pediatric Allergology and Immunology to survey pediatricians about their management practices for AR.
  • The survey included input from 864 primary care pediatricians, revealing that they collectively manage over 81,000 children with AR, with a majority adhering to ARIA guidelines.
  • Findings show that 42% of children have mild AR while 58% have moderate to severe cases, with intranasal corticosteroids being the most frequently prescribed medication, alongside oral antihistamines and nasal lavages.
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  • Severe asthma affects a small percentage of children, leading to frequent symptoms and hospitalizations, but global data on its prevalence is limited.
  • This study performs a systematic review and meta-analysis of existing research to provide insights into the prevalence and regional variations of severe asthma in children, sourcing data from studies published since 2003.
  • The meta-analysis found that the prevalence of severe asthma in European children aged 5-18 is around 3%, highlighting the need for future research to establish incidence rates, standardize definitions, and explore related health issues and treatment options.
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  • The study looked at how serious Human Adenovirus (HAdV) infections are compared to other viral illnesses in kids with breathing problems in Italy.
  • They found that kids with HAdV showed more inflammation but didn't have worse breathing issues than those with other viruses.
  • The research highlights the need to identify HAdV early to avoid giving unnecessary antibiotics, since many kids might get treated for bacterial infections when they really have a virus.
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  • Developmental and epileptic encephalopathies (DEE) are disorders that can be caused by new mutations in a specific gene, leading to different symptoms, from severe conditions to milder ones like autism.
  • A case study of a six-year-old boy showed he had a new mutation in that gene, but he did not develop epilepsy and had a normal brain scan over five years.
  • This case helps us understand that not everyone with mutations in this gene will have serious problems, which is important for doctors to know when diagnosing developmental delays.
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  • Vernal keratoconjunctivitis (VKC) is a long-lasting eye disease that can affect children's vision and often gets worse in certain seasons.
  • A group of expert doctors in Italy worked together to create guidelines for diagnosing and treating VKC to help doctors manage the disease better.
  • They recommend getting diagnosed quickly, using specific tools like the Bonini score, and using short treatments for better results when needed.
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Objective: Recurrent respiratory infections (RRIs) represent a demanding challenge in pediatricians' clinical practice. A previous Inter-Society Consensus defined criteria for identifying children with RRIs and assessed the available treatments, considering the evidence grade.

Materials And Methods: The present Delphi consensus proposed a series of statements concerning the practical use of Citomix, a multicomponent low-dose medication.

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Randomized controlled trials have demonstrated responses to clinical parameters, but a significant proportion of allergy patients in real-life settings would have been excluded from such studies. Therefore, real-world research is needed, and there is a growing body of information on allergen immunotherapy's long-term effectiveness and safety. Real-world evidence can be a valuable instrument to better understand the patient's journey and the effectiveness and safety of therapies.

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Background: Type 2 inflammation is the principal determinant of asthma in children, and it leads to the downstream activation of eosinophils (EOS), the production of immunoglobulin-E (IgE), and increased levels of fraction of exhaled nitric oxide (FeNO). Dupilumab received the approval for the treatment of uncontrolled severe Type 2 asthma in children.

Objective: The aim of this analysis was to calculate the Type 2 severe asthma paediatric population who would be eligible for treatment with dupilumab in Italy and characterize them by expected biomarker status.

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An unclassified primary antibody deficiency (unPAD) is a widely heterogeneous clinical entity, recently identified within the spectrum of Inborn Errors of Immunity (IEIs). Since unPAD has been traditionally considered as a mild condition, it has incorrectly received little attention, resulting in the paucity of extensive and comparable studies describing its natural history. To address the gaps in characterizing, understanding, and managing pediatric unPAD patients, the Italian Primary Immunodeficiency Network (IPINet) Ped-unPAD study has recently been launched.

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Pediatric asthma management is a compelling challenge for every pediatrician. Different aspects require attention and definition. The present Intersocietal Survey aimed to collect real-world experiences from a sample of Italian pediatricians.

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Acute post-viral cough is a common symptom, usually mild-moderate and self-resolving. However, acute cough may be particularly annoying, affecting sleep, and quality of life, also of the family. Thus, treatment is deemed necessary.

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Severe asthma (SA) is still a demanding challenge in clinical practice. Type 2 inflammation is the most common phenotype in children and adolescents with SA. As a result, anti-inflammatory drugs, mainly corticosteroids (CSs), represent the first choice to reduce type 2 inflammation.

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Objectives: Chest high-resolution computed tomography (HRCT) is conditionally recommended to rule out conditions that mimic or coexist with severe asthma in children. However, it may provide valuable insights into identifying structural airway changes in pediatric patients. This study aims to develop a machine learning-based chest HRCT image analysis model to aid pediatric pulmonologists in identifying features of severe asthma.

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Pidotimod (3-L-pyroglutamyl-L-thiaziolidine-4-carboxylic acid) is a synthetic dipeptide with immunomodulatory properties that is indicated for use in adults and children over 3 years of age with documented cell-mediated immunodepression during respiratory and urinary tract infections. Infections are associated with an immune response that helps fight pathogens. In this scenario, inflammatory events occur to improve the antimicrobial reaction.

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Fibroblast growth factors (FGFs) act as proangiogenic and mitogenic cytokines in several cancers, including multiple myeloma (MM). Indeed, corrupted FGF autocrine and paracrine secretion induces an aberrant activation of the FGF receptor (FGFR) signaling sustaining cancer cell spreading and resistance to pharmacological treatments. Thus, FGF traps may represent a promising anti-cancer strategy to hamper the ligand-dependent activation of the FGF/FGFR system.

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Anorexia nervosa (AN) is an eating disorder (ED) that has seen an increase in its incidence in the last thirty years. Compared to other psychosomatic disorders, ED can be responsible for many major medical complications, moreover, in addition to the various systemic impairments, patients with AN undergo morphological and physiological changes affecting the cerebral cortex. Through immunohistochemical studies on portions of postmortem human brain of people affected by AN and healthy individuals, and western blot studies on leucocytes of young patients and healthy controls, this study investigated the role in the afore-mentioned processes of altered redox state.

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