80 results match your criteria: "Bambino Gesu' Children Hospital (IRCCS)[Affiliation]"

Background/objectives: In Italy, the prevalence of celiac disease (CeD) among children exceeds 1.5% and has steadily increased with a linear trend over the past 25 years. The clinical presentation is heterogenous and a change in onset symptoms has been described in recent years.

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Non-Invasive Ventilation Failure in Pediatric ICU: A Machine Learning Driven Prediction.

Diagnostics (Basel)

December 2024

Unit of Biostatistics, Epidemiology and Public Health, Department of Cardiac, Thoracic, and Vascular Sciences and Public Health, University of Padova, Via Loredan 18, 35131 Padova, Italy.

: Non-invasive ventilation (NIV) has emerged as a possible first-step treatment to avoid invasive intubation in pediatric intensive care units (PICUs) due to its advantages in reducing intubation-associated risks. However, the timely identification of NIV failure is crucial to prevent adverse outcomes. This study aims to identify predictors of first-attempt NIV failure in PICU patients by testing various machine learning techniques and comparing their predictive abilities.

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Objectives: To unravel the still unexplored HBV-replicative kinetics in anti-HBc-positive/HBsAg-negative people-with-HIV (PWH) suspending tenofovir disoproxil-fumarate/tenofovir-alafenamide (TDF/TAF).

Methods: A total of 101 anti-HBc-positive/HBsAg-negative PWH switching to TDF/TAF-sparing therapy were included. Serum HBV-DNA and HBV-RNA were quantified by droplet-digital-PCR at switching (T0), within 12 months (T1) and 12-24 months postswitch (T2).

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Hemophagocytic Lymphohistiocytosis (HLH)/Macrophage Activation Syndrome (MAS) in children with inflammatory bowel disease (IBD) has been reported only anecdotally. This study aimed at describing the clinical features and outcomes of children diagnosed with both IBD and HLH/MAS. Data on IBD and HLH/MAS characteristics, biochemical, microbiological and genetic assessments, treatments, and outcomes were collected from the Italian Pediatric IBD Registry and presented using descriptive statistics.

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Article Synopsis
  • * A study analyzing over 54,000 respiratory samples from January 2022 to June 2023 found adenovirus in 6.6% of acute respiratory infections, with a median patient age of 3 years, and a significant portion of cases included co-infections with other viruses, especially rhinovirus.
  • * Genotyping revealed six different adenovirus genotypes circulating in Italy, with type B3 being the most prevalent.
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Rabson-Mendenhall syndrome (RMS), a rare disorder characterized by severe insulin resistance due to biallelic loss-of-function variants of the insulin receptor gene (INSR), presents therapeutic challenges (OMIM: 262190). This case study explores the efficacy of adjunctive therapy with sodium-glucose cotransporter 2 inhibitors (SGLT2is) in the management of RMS in an 11-year-old male patient with compound heterozygous pathogenic variants of INSR. Despite initial efforts to regulate glycemia with insulin therapy followed by metformin treatment, achieving stable glycemic control presented a critical challenge, characterized by persistent hyperinsulinism and variable fluctuations in glucose levels.

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Objectives: Genomic surveillance of Klebsiella pneumoniae carbapenemase-producing Klebsiella pneumoniae (KPC-Kp) is crucial for virulence, drug-resistance monitoring, and outbreak containment.

Methods: Genomic analysis on 87 KPC-Kp strains isolated from 3 Northern Italy hospitals in 2019-2021 was performed by whole genome sequencing (WGS), to characterize resistome, virulome, and mobilome, and to assess potential associations with phenotype resistance and clinical presentation. Maximum Likelihood and Minimum Spanning Trees were used to determine strain correlations and identify potential transmission clusters.

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In pediatric patients, the choice of the venous access device currently relies upon the operator's experience and preference and on the local availability of specific resources and technologies. Though, considering the limited options for venous access in children if compared to adults, such clinical choice has a great critical relevance and should preferably be based on the best available evidence. Though some algorithms have been published over the last 5 years, none of them seems fully satisfactory and useful in clinical practice.

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Aim: To develop a trigger tool for parents and lay caregivers of children with medical complexity (CMC) at home and to validate its content.

Design: This was a multi-method study, using qualitative data, a Delphi method and a concept mapping approach.

Methods: A three-round electronic Delphi was performed from December 2021 to April 2022 with a panel of 23 expert parents and 30 healthcare providers, supplemented by a preliminary qualitative exploration of children's signs of deterioration and three consensus meetings to develop the PArents' Trigger Tool for Children with Medical Complexity (PAT-CMC).

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Clinical and economic burden of respiratory syncytial virus in children aged 0-5 years in Italy.

Ital J Pediatr

March 2024

CliCon Società Benefit S.r.l., Health, Economics & Outcomes Research, Via Murri 9, Bologna, 40137, Italy.

Background: Respiratory syncytial virus (RSV) is among the leading causes of hospitalization due to lower respiratory tract infections (LRTIs) in children younger than 5 years worldwide and the second cause of infant death after malaria. RSV infection occurs in almost all the infants before the second year of life with variable clinical severity, often requiring medical assistance. This analysis investigated patients aged 0-5 years with RSV infection focusing on epidemiology, clinical features, and economic burden of RSV-associated hospitalizations in a setting of Italian real clinical practice.

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Familial childhood onset, slowly progressive myopathy plus cardiomyopathy expands the phenotype related to variants in the TTN gene.

Neuromuscul Disord

April 2024

Dept of Neuroscience, Section of Neurology, Catholic University of Sacred Heart, Rome, Italy; Neurology Unit, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS ,Rome, Italy. Electronic address:

This report describes a novel TTN -related phenotype in two brothers, both affected by a childhood onset, very slowly progressive myopathy with cores, associated with dilated cardiomyopathy only in their late disease stages. Clinical exome sequencing documented in both siblings the heterozygous c.2089A>T and c.

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Purpose: Several surgical options are available for treating hypothalamic hamartoma-related epilepsy but their respective efficacy and safety profiles are poorly defined.

Methods: A literature search identified English-language articles reporting series of patients (minimum 3 patients with a follow-up ≥12 months) operated on by either microsurgery, endoscopic surgery, radiosurgery, radiofrequency thermocoagulation or laser interstitial thermal therapy for hypothalamic hamartoma-related epilepsy. The unit of analysis was each selected study.

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Human Parechovirus is a common cause of infection occurring especially during the first years of life. It may present with a broad spectrum of manifestations, ranging from a pauci-symptomatic infection to a sepsis-like or central nervous system disease. Aim of this study is to explore the knowledge on Parechovirus meningitis.

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An overview of SARS-CoV-2 variants circulating in the 2020-2022 period in Lombardy.

Diagn Microbiol Infect Dis

December 2023

Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy; Microbiology and Virology Department, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.

Since the beginning of the pandemic, SARS-CoV-2 has shown genetic variability. All the variants that have sustained pandemic waves have shown several mutations, especially in the Spike protein that could affect viral pathogenesis. A total of 15,729 respiratory samples, collected between December 2020 and August 2022, have been included in this study.

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Detection of subgenomic (sg) SARS-CoV-2 RNAs are frequently used as a correlate of viral infectiousness, but few data about correlation between sg load and viable virus are available. Here, we defined concordance between culture isolation and E and N sgRNA quantification by ddPCR assays in 51 nasopharyngeal swabs collected from SARS-CoV-2 positive hospitalized patients. Among the 51 samples, 14 were SARS-CoV-2 culture-positive and 37 were negative.

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The ketogenic diet is known to be a possible adjuvant treatment in several medical conditions, such as in patients with severe or drug-resistant forms of epilepsy. Its use has recently been increasing among adolescents and young adults due to its supposed weight-loss effect, mediated by lipolysis and lowered insulin levels. However, there are still no precise indications on the possible use of ketogenic diets in pediatric age for weight loss.

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Gut and airway microbiota dysbiosis and their role in COVID-19 and long-COVID.

Front Immunol

March 2023

Infectious Diseases Unit, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

The gut microbiota plays a crucial role in human health and disease. Gut dysbiosis is known to be associated with increased susceptibility to respiratory diseases and modifications in the immune response and homeostasis of the lungs (the so-called gut-lung axis). Furthermore, recent studies have highlighted the possible role of dysbiosis in neurological disturbances, introducing the notion of the "gut-brain axis.

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Article Synopsis
  • STAT6 is a key transcription factor involved in allergic inflammation, and researchers identified 16 patients from 10 families across three continents with severe allergic conditions related to its dysfunction.
  • These patients exhibited various symptoms like early-onset immune issues, treatment-resistant skin conditions, asthma, and food allergies, all linked to rare mutations in the STAT6 gene that lead to a gain-of-function phenotype.
  • The study suggests that these mutations cause a novel autosomal dominant allergic disorder and highlights the successful use of the anti-IL-4Rα antibody, dupilumab, as a precision treatment for managing symptoms and improving immune responses.
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Objectives: A new device is available for neonates needing extracorporeal renal replacement therapy. We reviewed the use of this device (in continuous venovenous hemofiltration [CVVH] mode) in term or preterm neonates affected by multiple organ dysfunction syndrome (MODS) with fluid overload.

Design: Case series.

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Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects many organs. The diagnosis of this condition is primarily clinical and it can be confirmed by molecular analysis of the genes known to cause this disease, although about 30% of CdLS patients are without a genetic diagnosis. Here we report clinical and genetic findings of a patient with CdLS type 4, a syndrome of which the clinical features of only 30 patients have been previously described in the literature.

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Background: Carbapenem resistant (cr-Kp) causes serious infections associated with a high mortality rate. The clinical efficacy of ceftazidime/avibactam (CZA), meropenem/vaborbactam (M/V), and imipenem/relebactam (I/R) against cr-Kp is challenged by the emergence of resistant strains, making the investigation and monitoring of the main resistance mechanisms crucial. In this study, we reported the genome characterization of a strain isolated from a critically ill patient and characterized by a multidrug resistant (MDR) profile, including resistance to CZA, M/V, and I/R.

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Aims: To assess influenza viruses (IVs) circulation and to evaluate A(H3N2) molecular evolution during the 2021-2022 season in Italy.

Materials And Methods: 12,393 respiratory specimens (nasopharyngeal swabs or broncho-alveolar lavages) collected from in/outpatients with influenza illness in the period spanning from January 1, 2022 (week 2022-01) to May 31, 2022 (week 2022-22) were analysed to identify IV genome and were molecularly characterized by 12 laboratories throughout Italy. A(H3N2) evolution was studied by conducting an in-depth phylogenetic analysis of the hemagglutinin (HA) gene sequences.

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