Publications by authors named "Salvatore De Masi"

Unlabelled: Reference values for tissue Doppler imaging (TDI) parameters in neonates remain limited and are not consistently defined across gestational ages or postnatal periods. We conducted a systematic review and meta-analysis to define normal ranges for TDI-derived myocardial performance indices in healthy term and preterm newborns, stratified by gestational age (GA) and day of life (DOL). We searched MEDLINE, EMBASE, and CENTRAL up to April 2024 for observational studies reporting TDI measures in neonates grouped by GA (< 32, 32-36, ≥ 37 weeks) and DOL (≤ 7, > 7).

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Objectives: Blau syndrome (BS) is a rare autoinflammatory disease caused by gain of function variants in NOD2. Uveitis is one of the triad features with arthritis and dermatitis. Management of uveitis is challenging, and uncontrolled uveitis may lead to blindness.

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Background And Aims: In clinical practice, the reduction of portocaval pressure gradient (PCPG) following TIPS does not always meet the recommendation of current guidance. We evaluated the impact of different degrees of PCPG reduction, measured at the end of an elective TIPS, on ascites control, recurrence of portal hypertension-related bleeding (PHRB), and survival.

Approach And Results: Patients with cirrhosis receiving TIPS for refractory ascites (RA) or for the secondary prophylaxis of PHRB were consecutively enrolled.

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Introduction: In childhood, growth hormone (GH) deficiency (GHD) diagnosis is based on auxological assessment and biochemical provocative tests, whose reliability remains disputed. Recently, several papers have been published on standardising the duration of some tests. The aim of our study was to analyse the possible length reduction of the L-DOPA provocative test.

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Article Synopsis
  • The study investigates treatment options for children with chronic non-infectious uveitis (cNIU) who don't respond to the initial anti-TNF therapy, focusing on whether to switch to another anti-TNF or another biologic.
  • A systematic review and meta-analysis was done, analyzing data from January 2000 to August 2023, with 23 articles covering 150 children, to evaluate treatment efficacy based on intraocular inflammation improvement.
  • Results indicate that both tocilizumab and infliximab show a higher response rate compared to other treatments, suggesting these might be better options for managing cNIU after the first anti-TNF fails.
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  • The study aimed to assess the impact of COVID-19 on vaccinated patients undergoing haemodialysis by analyzing hospitalization rates and ICU admissions across different vaccine dosage periods.
  • Out of 1,096 infected dialysis patients, 7.5% were hospitalized, with significant risk factors being age over 60 and pre-existing lung disease; notably, ICU admissions dropped by 86% after receiving a third vaccine dose.
  • The findings indicate that despite increased infection rates due to a virus variant, the severity of COVID-19 infections was lower for vaccinated patients, but dialysis patients remained more vulnerable to hospitalizations compared to the general population.
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  • The study aimed to determine specific cut-off levels for basal LH and ultrasound parameters indicating HPG axis activation for diagnosing Central Precocious Puberty (CPP) in girls.
  • It involved 248 girls suspected of precocious puberty, who were divided into three groups and underwent a GnRH stimulation test while their hormonal levels and ultrasound parameters were measured.
  • The findings indicated that a basal LH level of ≥0.14 mIU/mL was the most predictive for diagnosing CPP, while uterine length and LH/FSH ratios also provided useful diagnostic information but with varying degrees of sensitivity and specificity.
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Background: The aim of this study was to evaluate the efficacy and safety of COVID-19 vaccines in patients undergoing haemodialysis in Italy compared to the general population.

Methods: In this cohort study, 118 dialysis centres from 18 Italian Regions participated. Individuals older than 16 years on dialysis treatment for at least 3 months, who provided informed consent were included.

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Objectives: We describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools and framework of the integrative platform, the main characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality.

Methods: Standardized data of enrolled pediatric and adult patients were collected in 24 Italian expert centers and regularly updated at least on a yearly basis.

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We aimed to investigate the significance of optical coherence tomography (SD-OCT) in managing pediatric optic pathway gliomas (OPGs) in children younger than 5 years of age. A retrospective monocentric study was conducted. SD-OCT scans were obtained using the handheld iVue system to assess peripapillary retinal nerve fibre layer (pRNFL) thickness at three time points: baseline (OCT1), end of treatment (OCT2), and at last follow-up (OCT3).

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Background: Temporal lobe epilepsy (TLE) surgery is associated with the best seizure outcome in adults, although its long-term results remain suboptimal. Retrospective pediatric studies suggest better figures whose determinants are poorly understood.

Objective: To conduct a systematic review and meta-analysis of studies on the efficacy of TLE surgery in children (age younger than 18 years) and adults.

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Background: Stiripentol is an antiseizure medication with multiple potential mechanisms of action, indicated as adjunctive therapy in people with Dravet syndrome, whose seizures are not adequately controlled with clobazam and valproate. However, there are scattered data on its efficacy in other epilepsy aetiologies and types. We previously reported our single-centre experience on the efficacy of adjunctive stiripentol treatment in a cohort of 132 patients with different types of refractory epilepsies.

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Importance: Neonatal early-onset sepsis (EOS) is a severe disease, particularly in preterm infants. Timely diagnosis can be challenging owing to unspecific presentation and questionable performance of the common markers of infection. Presepsin was recently proven to be a promising biomarker for the diagnosis of EOS.

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Background: The aim of the present study was to investigate outcomes of anti-TNF-alpha (ATA) withdrawal in selected pediatric patients with inflammatory bowel disease who achieved clinical remission and mucosal and histological healing (MH and HH).

Methods: A retrospective analysis was performed on children and adolescents affected by Crohn disease (CD) and ulcerative colitis (UC) who were followed up at 2 tertiary referral centers from 2008 through 2018. The main outcome measure was clinical relapse rates after ATA withdrawal.

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Introduction: The aim of the work was to update the "Guidelines for the Management of Severe Traumatic Brain Injury" published in 2012, to reflect the new available evidence, and develop the Italian national guideline for the management of severe pediatric head injuries to reduce variation in practice and ensure optimal care to patients.

Evidence Acquisition: MEDLINE and EMBASE were searched from January 2009 to October 2017. Inclusion criteria were English language, pediatric populations (0-18 years) or mixed populations (pediatric/adult) with available age subgroup analyses.

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Autoimmune disorders currently affect 5%-8% of the global population, characterized by an aberrant chronic inflammatory response to self-antigens. The aim of this study was to systematically review the current available evidence investigating the impact of systemic autoimmune diseases and associated immunosuppressive treatment on fertility parameters of adult men. Clinical trials, observational studies, and case reports written in English and reporting semen analysis, evaluation of seminal oxidative stress, and/or sperm DNA fragmentation in patients affected by psoriasis and psoriatic arthritis, celiac disease, inflammatory bowel diseases, systemic lupus erythematosus, ankylosing spondylitis, hidradenitis suppurativa, uveitis, dermatomyositis, and rheumatoid arthritis were collected by searching on PubMed, EMBASE, OVID, Scopus, and Cochrane Library databases, with no limit of time.

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Article Synopsis
  • - The study assessed mucosal healing (MH) and histological healing (HH) outcomes in pediatric patients with inflammatory bowel disease (IBD) treated with anti-TNF-alpha agents at two centers.
  • - Out of 170 patients, only 41% of those with Crohn's disease (CD) and 53.6% with ulcerative colitis (UC) achieved MH, while 33.3% of CD and 39.3% of UC patients achieved HH, indicating lower rates than previous studies.
  • - Factors like achieving remission at the end of treatment were linked to higher MH and HH rates, while treatment with adalimumab showed lower rates of these healing outcomes, highlighting variability in patient responses
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Background: The emergence of SARS-CoV-2 pandemic has upset health systems around the world and caused immeasurable losses and costs. Until a vaccine will become available, the recommended prevention measures remain physical distancing and enhanced hygiene.

Methods And Findings: The proteic structure external to the virus is the main target that may eventually lead to reduce or block its replication in the upper airways.

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Background: The timing of puberty in girls is occurring at an increasingly early age. While a positive family history is recognised as a predisposing factor for early or precocious puberty, the role of environmental factors is not fully understood.

Aims Of The Study: To make a retrospective evaluation of the incidence of newly diagnosed central precocious puberty (CPP) and the rate of pubertal progression in previously diagnosed patients during and after the Italian lockdown for COVID-19, comparing data with corresponding data from the previous 5 years.

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Background: Variability in presentation of children with coronavirus disease 2019 (COVID-19) is a challenge in emergency departments (EDs) in terms of early recognition, which has an effect on disease control and prevention. We describe a cohort of 170 children with COVID-19 and differences with the published cohorts.

Methods: Retrospective chart reviews on children (0-18 years) evaluated in 17 Italian pediatric EDs.

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Background: The effect of direct-acting anti-virals (DAAs) in children and adolescents with chronic hepatitis C virus (HCV) infection is difficult to determine, since few, aged between 3 and 18 years, have been enrolled in clinical trials, and some data come from observational studies.

Aim: To summarise the evidence on efficacy and safety of DAAs in children and adolescents with chronic HCV infection.

Methods: We performed a systematic review and meta-analysis of prospective studies on the efficacy and safety of DAAs in subjects <18 years of age.

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Protocadherin-19 (PCDH19) is a calcium dependent cell-adhesion molecule involved in neuronal circuit formation with prevalent expression in the limbic structures. PCDH19-gene mutations cause a developmental encephalopathy with prominent infantile onset focal seizures, variably associated with intellectual disability and autistic features. Diagnostic neuroimaging is usually unrevealing.

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Background: In Italy, as in many European countries, Pediatric Emergency Medicine is not formally recognized as a pediatric subspecialty, hindering nation-wide adoption of standards of care, especially in the field of procedural sedation and analgesia (PSA) in the Emergency Department (ED). For this reason PSA in Italy is mostly neglected or performed very heterogeneously and by different providers, with no reference standard. We aimed to describe the procedures and results of the first multidisciplinary and multi-professional Consensus Conference in Italy on safe and effective pediatric PSA in Italian EDs.

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