Publications by authors named "Marchisio P"

Background/objectives: Recurrent acute otitis media (rAOM) is a common disease in childhood, but its impact on the vestibular system remains poorly understood. The present study aimed to evaluate the long-term effects of rAOM on balance and vestibular function in pediatric patients.

Methods: A total of 55 children, aged 8 years (25 males and 30 females), with a documented history of rAOM, no AOM episodes in the past year, and no previous ear surgery were assessed.

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Munchausen syndrome by proxy is extremely difficult to diagnose. A case is presented of a 17-month-old girl who repeatedly sustained cold burns caused by a spray deodorant and inflicted by her mother. A comprehensive medical investigation, including blood assessments, skin biopsies and imaging were inconclusive.

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Background: Receiving communication of positivity for metabolic diseases at Expanded Newborn Screening can be extremely stressful for parents, both in case of false positive and true positive cases. However, little is known about the predictors of distress and differential impact on mothers and fathers.

Methods: In this longitudinal study, 169 fathers and 171 mothers referred to one of the Italian metabolic centres for communication of positivity completed a survey including General Health Questionnaire-12, Emotion Thermometers (measuring stress, anxiety, depression, anger and need for help), Impact of Event Scale-Revised, Multidimensional Scale of Perceived Social Support and Emotion Regulation Questionnaire.

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: The pathogenetic role of 15q11.2 Copy Number Variations (CNVs) remains contentious in the scientific community, as microdeletions and microduplications in this region are linked to neurodevelopmental disorders with variable expressivity. This study aims to explore the diagnostic utility of Exome Sequencing (ES) in a cohort of pediatric patients with 15q11.

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  • The combination of paracetamol and ibuprofen is effective for treating mild-to-moderate acute pain in children, particularly for conditions like headaches, earaches, and post-operative pain.
  • A survey of pediatricians showed strong support for the fixed-dose combination, emphasizing its superiority over single-drug therapies and its tolerability among children.
  • Future research is needed to explore its potential benefits for chronic and inflammatory pain conditions in pediatric patients.
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  • Silver-Russell Syndrome (SRS) is a rare condition that causes babies to grow slower and have unique facial features, with about 1 in 30,000 to 100,000 births affected.
  • This study looked at four patients who seemed to have SRS but actually had a different syndrome after genetic testing, showing that SRS can be confused with other conditions.
  • It's important to carefully check all symptoms and do proper tests to make sure patients get the right treatment and support they need.
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Unlabelled: Guidelines advocate that the symptomatic management of fever should prioritize alleviating the child's discomfort. We investigated the definition and assessment of discomfort in febrile children within the scientific pediatric literature. A systematic review was conducted in accordance with PRISMA 2020 guidelines and preregistered on the Prospero database (CRD42023471590).

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  • This study investigates three chromatinopathies (Wiedemann-Steiner, Kleefstra, Coffin-Siris syndromes) known for similar symptoms like intellectual disability and growth issues, to explore their potential metabolic connections.
  • Eleven patients participated in the study, where researchers conducted physical exams and assessed resting energy expenditure, finding no significant differences between these conditions and healthy controls.
  • The findings highlight the importance of epigenetic factors in growth and neurodevelopment, suggesting that certain clinical features should be monitored in these syndromes, while emphasizing the need for further research into energy metabolism.
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  • - Antimicrobial resistance (AMR) is a major health concern mainly due to the incorrect use of antibiotics for non-bacterial illnesses, prompting the study of pediatricians' prescription habits in Lombardy.
  • - A survey of 253 pediatricians revealed that while many recognize the importance of a national AMR strategy, half view AMR as rare in children, with diagnostic uncertainty being a key factor influencing their antibiotic prescriptions.
  • - The study concluded that the challenge in accurately diagnosing infections is the primary factor affecting antibiotic use, overshadowing influences such as parental pressure and legal fears.
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  • - Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder that involves intellectual disabilities, unique facial features, and unusually large thumbs and toes, with most cases linked to specific genetic variants.
  • - The syndrome is considered a chromatinopathy due to the mutations affecting genes involved in epigenomic regulation, making it difficult to diagnose based solely on phenotype due to its varied presentation.
  • - A case study of a patient with a rare form of RTS highlights the issue of potential underdiagnosis for milder cases, suggesting that combining phenotype-based diagnostics with advanced genetic sequencing techniques may improve detection rates.
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Background: Every year in Italy, influenza affects about 4 million people. Almost 5% of them are hospitalised. During peak illness, enormous pressure is placed on healthcare and economic systems.

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Group A Streptococcus (GAS) presents a significant global health burden due to its diverse clinical manifestations ranging from mild infections to life-threatening invasive diseases. While historically stable, the incidence of GAS infections declined during the COVID-19 pandemic but resurged following the relaxation of preventive measures. Despite general responsiveness to β-lactam antibiotics, there remains an urgent need for a GAS vaccine due to its substantial global disease burden, particularly in low-resource settings.

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  • Histone deacetylases (HDACs) are crucial for modifying histones, influencing gene expression and chromatin structure, with Class I HDACs being widely expressed and involved in protein complexes.
  • A study identified a novel mutation in the HDAC2 gene in a patient with Rubinstein-Taybi syndrome (RSTS), who initially tested negative for known RSTS mutations, suggesting a connection between this mutation and chromatinopathies.
  • Investigations revealed that the HDAC2 mutation caused improper localization in the nucleus, altered protein levels, and distinct patterns of gene expression, highlighting HDAC2's potential role in chromatin-related disorders.
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Objective: To assess the prevalence of otitis media with effusion (OME) among children who attended a tertiary level audiologic center 2 and 3 years after the COVID-19 lockdown, and to determine the impact of temporary interruption of day care center attendance on chronic OME.

Study Design: Retrospective study.

Setting: Tertiary level referral audiologic center.

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Background: Recurrent Upper Respiratory Tract Infections (R-URTIs) pose a significant challenge in pediatric healthcare, affecting both children and their families. This study aimed to investigate the prevalence, risk factors, and clinical implications of R-URTI in children aged 0-5 years.

Methods: This observational study involved a sample of 483 children aged 0-5 years, focusing on establishing a practical and dynamic definition of R-URTI.

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This multicenter study in Italian hospitals highlights the epidemiologic disruptions in the circulation of the 5 main respiratory viruses from 2019 to 2023. Our data reveal a resurgence of respiratory syncytial virus and influenza during the 2022-2023 winter season, with an earlier peak in cases for both viruses, emphasizing the importance of timely monitoring.

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Background: Diagnosis of acute otitis media (AOM) in children can be challenging, given that symptoms are often non-specific or absent, and that the direct observation of the tympanic membrane in its entirety through otoscopy can sometimes be difficult. The aim of this study is to assess the diagnostic concordance in detection of AOM episodes between primary care paediatricians and physicians especially trained in paediatric otoscopy, and to characterize the most misleading elements in diagnostic failure.

Methods: Consecutive clinical charts of children regularly followed for recurrent AOM (RAOM, i.

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Bronchiolitis is a common cause of hospitalization in infants. The long-lasting impact of hygiene and social behavior changes during the pandemic on this disease is debated. We investigated the prevalence of hospitalized cases, clinical severity, and underlying risk factors before and during pandemic.

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AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only GRIA3 is X-chromosomal. Increasing numbers of GRIA3 missense variants are reported in patients with neurodevelopmental disorders (NDD), but only a few have been examined functionally.

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Background: The present study aimed to assess the prevalence and characteristics of hearing loss (HL) among preschoolers with speech-language delay who had passed the universal newborn hearing screening (UNHS).

Methods: This retrospective study included children aged 2-6 years with isolated speech-language delay who were referred to a third-level audiological center for a comprehensive audiological assessment, including otomicroscopy, tympanometry, and click-evoked auditory brainstem responses.

Results: A total of 375 speech-language delayed children (285 male and 90 female) were assessed.

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Objectives: To identify and synthesize key research advances from the literature published between 2019 and 2023 on the advances in preventative measures, and medical and surgical treatment of uncomplicated otitis media (OM) including the impact of the COVID-19 pandemic on OM management.

Data Sources: Medline (PubMed), Embase, and the Cochrane Library.

Review Methods: All relevant original articles published in English between June 2019 and February 2023 were identified.

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We report the case of a 12-year-old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile-onset hearing loss. The CATSHL (CAmptodactyly - Tall stature - Scoliosis - Hearing Loss syndrome) syndrome was suspected, and molecular analysis revealed a hitherto unreported, monoallelic variant c.1861C>T (p.

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Unlabelled: Chronic adenoiditis (CA) is generally sustained by some infectious foci mainly located within the nasopharynx or in the deep adenoidal pads and it is characterized by a complex interplay between bacterial species. The aim of this study was to assess the efficacy and safety of the topical nasal administration of a probiotic compound based on S. salivarius 24SMB and S.

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