Glecaprevir/Pibrentasvir (GLE/PIB) is an interferon-free direct-acting antiviral (DAA) regimen indicated for the treatment of chronic hepatitis C virus (HCV) infection. However, data on the pharmacokinetics and stability of crushed or split tablets are lacking, complicating administration in patients with dysphagia requiring percutaneous endoscopic gastrostomy (PEG). Additionally, no published studies have evaluated the safety and efficacy of DAAs in combination with Risdiplam, the first oral therapy developed for spinal muscular atrophy (SMA). We report a case of a 14-year-old dysphagic patient with SMA, receiving Risdiplam, who was successfully treated with crushed GLE/PIB administrated via PEG. The patient achieved a sustained virologic response (SVR) 12 weeks after the end of therapy, without significant adverse effects, and no drug interactions were observed during the course of treatment.

Group A Streptococcus causes pediatric infections from mild to severe forms. Since late 2022, invasive cases have increased in Europe, possibly due to reduced post-COVID-19 immunity, more respiratory virus circulation, and emergence of virulent strains. A retrospective, multicenter observational study was conducted in twelve Italian pediatric Hospitals, including patients under 18 years hospitalized with invasive or severe Group A Streptococcus infection. Data were anonymized and analyzed to identify factors associated with Pediatric Intensive Care Unit (PICU) admission and discharge with sequelae or death. Seventy-five children with invasive or severe Group A Streptococcus infection were included; the majority (69.3

BACKGROUND & AIMS:Glecaprevir/Pibrentasvir (GLE/PIB) has been approved by the European Medicine Agency (EMA) and by the US Food and Drug Administration (US-FDA) for the treatment of children and adolescents from 3 years of age with chronic hepatitis C virus (CHC) infection. The aim of this study was to confirm the real-world effectiveness and safety of GLE/PIB in children and adolescents (3 to < 18 years old) with CHC. METHODS:This prospective, multicentre study involved 11 Italian centres. Children and adolescents (from 3 to < 18 years of age) received a weight-based dose (up to 300/120 mg) of GLE/PIB once daily for 8 weeks. The effectiveness endpoint was sustained virological response 12 weeks after the end of treatment (SVR12). Safety was assessed by adverse events (AE) and clinical/laboratory data. RESULTS:Sixty-one patients (median age 12 years, interquartile range 5) were enrolled and treated between June 2020 and October 2023. Genotype distribution was as follows: 24/61 genotype 1 (39.4%), 13/61 genotype 2 (21.3%), 18/61 genotype 3 (29.5%) and 6/61 genotype 4 (9.8%). Sixty (98.4%) patients completed treatment and follow-up. SVR12 was obtained by 60/61 patients (98.4%). One patient died because of an oncological illness while on treatment. AE occurred in 13.1% of the patients, were mild and no patients prematurely stopped treatment. CONCLUSIONS:This study confirmed the real-life effectiveness and safety of the 8-week therapy with GLE/PIB for treatment of CHC in children and adolescents.

Background: Intravenous administration of zidovudine (ZDV) during labour is a key step for vertical HIV transmission (VT) prevention, but there is no evidence of benefit when maternal HIV-RNA at delivery is < 50 copies/mL. The aim of this study is evaluating the appropriateness of intrapartum ZDV use in Italy.Methods: Observational study including mother-infant pairs with perinatal HIV exposure during 2002-2019, enrolled in the Italian Register for HIV Infection in Children. Univariable and multivariable logistic regression were used to evaluate factors associated with VT.Results: A total of 3,861 infants, born from 3,791 pregnancies were included. The frequency of ZDV use was 79.9%, 92.1%, 93.7% and 92.8% when HIV-RNA was not available, >= 400 copies, between 50 and 399 copies, and < 50 copies/mL. Thirty-three out of 3861 (0.85%) infants were subsequently diagnosed with HIV, 25/3861 (0.6%) of them born to mothers receiving intrapartum ZDV, and 31 (93.9%) to mothers with HIV-RNA >= 50 copies/mL or not available. In women with HIV-RNA < 50 copies/mL, ART discontinuation during pregnancy was the strongest risk factor for VT (odds ratio, OR, 23.1, 95%CI 2.4-219.3), while a higher gestational age (OR 0.6, 95%CI 0.4-0.8) and PEP administration to the newborn (aOR 0.004, 95%CI < 0.0 0 01-0.4) were protective factors. Intrapartum ZDV administration did not influence the final outcome in this group.Conclusions: In ART era, more transmission events may occur in utero, limiting value of intrapartum ZDV, particularly for women with suppressed HIV-RNA load. More attention to the HIV-RNA testing of mothers before delivery may avoid unnecessary ZDV use. (c) 2022 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

In 2016, in order to identify adult patients with sepsis who are likely to have poor outcomes, the Third International Consensus Definitions Task Force introduced a new bedside index, called the quick Sepsis-related Organ Failure Assessment (qSOFA) score. However, these new criteria have not been validated in the pediatric population. In this study, we sought to assess the qSOFA score for children with sepsis, who are being treated outside the pediatric intensive care units. The qSOFA criteria were revised and applied to a study population of 89 pediatric patients with sepsis, admitted in a pediatric tertiary referral center from 2006 to 2016. The analysis of prognostic performance of qSOFA score for the prediction of severe sepsis showed a sensitivity of 46% (95% CI, 27–67%), a specificity of 74% (95% CI, 62–85%), a positive predictive value of 43% (95% CI, 34–52%), and a negative predictive value of 77% (95% CI, 71–82%). The area under ROC curve for qSOFA score ≥ 2 was 0.602 (95% CI 0.492–0.705).

BACKGROUND:The incidence of type 1 diabetes in childhood is increasing by 3 % per year, placing growing demands on healthcare professionals and medical expenditures. Aim of this study wars to assess the organization of care to children with diabetes in Italy.METHODS:During 2012 a structured questionnaire was sent to all of the members of Italian Society of Paediatric Endocrinology and Diabetology (ISPED). Questions examined organizational structure of Centers, personnel dedicated to the care of children with diabetes, number of subjects followed, local legal legislation supporting centres.RESULTS:A total of 68 centers taking care to 15,563 children and adolescents with diabetes under 18 years of age were identified with a prevalence of 1.4 per 1,000 people. A wide variation in the organizational background was also reported. Fourty-four centers were organized as outpatient departments, 17 as simple units, 5 as complex units and 2 as simple departmental structures. Most centers had a multidisciplinary team. Ten out of twenty Italian regions had introduced supportive regional legislation, but it was fully applied only in six of them.CONCLUSION:Great differences between regions were found in organizational structures, staffing levels and supportive legislation. The national legislation on diabetes was broadly implemented throughout the country regions. Further efforts are needed to improve standards and consistency of pediatric diabetes care in Italy.

Hypoparathyroidism and hypocalcemia are two of the most frequent clinical characteristics of 22q11-deletion syndrome (22q11DS). The aim of this study was to evaluate bone metabolism and density in a cohort of patients affected by 22q11DS.

Since 2005, the Pediatric Clinic of Maternal‐Infantile Sciences Institute in Ancona, in collaboration with the Lega del Filo d'Oro in Osimo, has been taking care of 35 patients with clinical and molecular diagnosis of CHARGE syndrome. Our investigation is the largest Italian cohort study of CHARGE patients. CHARGE syndrome is a multiple malformation syndrome involving ocular coloboma, heart defects, choanal atresia, retardation of growth and\or development, genital anomalies and\or urinary and ear abnormalities which leads to visual–auditory disabilities, cognitive impairment and behavioral abnormalities. Our purpose is to expand the knowledge of this syndrome by reviewing this group of affected patients in order to delineate in detail the natural history of the disease, and in particular to define the cognitive and motor profiles using an Italian questionnaire called “Progress Guide”. Our main results show that Italian CHARGE patients have more delayed development in their physical abilities or skills with respect to normal patients. In particular, the delay is statistically significant in regard to self‐care skills (worse toileting, better washing) and the communication skill (language). On the other hand, the expressive skills are still preserved. When patients are considered according to their age (≤3 years) and (>3 years), the older ones have more delayed development than the younger ones when compared with healthy individuals of the same age. © 2014 Wiley Periodicals, Inc.