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Background: Patients who experience cardiorespiratory events usually have to be moved to specialized centers to perform cardiorespiratory studies. To avoid the transfer of these patients to specialized centers, a network has been created based on an interchange system, where the recordings were uploaded in unspecialized centers (spokes) and downloaded by the Sleep Disorders Breathing (SDB) Center (hub) to be analyzed., Methods: The inter-hospital network was established in November 2008. Initially only 3 non-tertiary hospitals in the Tuscany Region joined the network. Currently, 12 Tuscany hospitals are included., Results: From November 2008 to December 2020, 625 recordings were collected belonging to 422 infants. No recurrent life-threatening episode or infant death occurred in the study population and none of the infants needed to be readmitted or be moved to a tertiary center, except infants who underwent home monitoring. The discharge diagnoses belong to the following categories: apnoea, respiratory problem of the newborn, syncope, gastroesophageal reflux, altered consciousness, transient loss of consciousness and cyanosis., Conclusions: This study shows that the inter-hospital network is an efficient system that allows accurate and safe management of infants at risk for apnoea, bradycardia, and hypoxemia to remain in unspecialized centers, avoiding unnecessary transfers of patients and over - hospitalizations., (© 2023. The Author(s).)

Congenital central hypoventilation syndrome (CCHS) is a rare neurological genetic disorder that affects sleep-related respiratory control. Currently, no drug therapy is available. In light of this, there is a need for lifelong ventilation support, at least during sleep, for these patients. The pathogenesis of several chronic diseases is influenced by oxidative stress. Thus, determining oxidative stress in CCHS may indicate further disorders in the course of this rare genetic disease. Liquid biopsies are widely used to assess circulating biomarkers of oxidative stress. In this study, ferric reducing ability of plasma, thiobarbituric acid-reactive substances, advanced oxidation protein products (AOPPs), and advanced glycation end-products were measured in the serum of CCHS patients to investigate the relationship between oxidative stress and CCHS and the significance of this balance in CCHS. Here, AOPPs were found to be the most relevant serum biomarker to monitor oxidative stress in CCHS patients. According to this communication, CCHS patients may suffer from other chronic pathophysiological processes because of the persistent levels of AOPPs.

Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system and in particular of the respiratory control during sleep. No drug therapy is, to date, available; therefore, the survival of these patients depends on lifelong ventilatory support during sleep. Reactive oxygen species (ROS)-induced oxidative stress is a recognized risk factor involved in the pathogenesis of several chronic diseases. Therefore, monitoring systemic oxidative stress could provide important insights into CCHS outcomes. Because ROS-induced oxidative products are excreted as stable metabolites in urine, we performed an HPLC-MS/MS analysis for the quantitative determination of the three main representative oxidative biomarkers (i.e., diY, MDA, and 8-OHdG) in the urine of CCHS patients. Higher levels of urinary MDA were found in CCHS patients compared with age-matched control subjects. The noteworthy finding is the identification of urinary MDA as relevant biomarker of systemic oxidative status in CCHS patients. This study is a concise and smart communication about the impact that oxidative stress has in CCHS, and suggests the monitoring of urinary MDA levels as a useful tool for the management of these patients.

Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of the autonomic nervous system (ANS), characterized by inadequate control of autonomic ventilation and global autonomic dysfunction. Heterozygous polyalanine repeat expansion mutations in exon 3 of the transcription factor Paired-like homeobox 2B (PHOX2B) gene occur in 90% of CCHS cases. In this study, we describe the generation and characterization of two human induced pluripotent stem cell (hiPSC) lines from female CCHS patients carrying a heterozygous + 5 alanine expansion mutation. The generated iPSC lines show a normal karyotype, express pluripotency markers and are able to differentiate into the three germ layers., (Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.)

Background: The Sudden Unexpected Infant Death Syndrome (SUID) is one of the leading causes of mortality in the first year of life. The aim of this work was the retrospective evaluation of the incidence of SUID and the effectiveness of the multiagency approach to this phenomenon in the Tuscany Region., Methods: Data were obtained from the regional registry of SUID cases in the period 2009-2019. The registry contains both sudden unexpected deaths in the first week of life (Sudden Unexpected Early Neonatal Deaths - SUEND), and those occurring after the first week up to 1 year of age (SUID)., Results: In this timeframe a total of 73 sudden unexpected deaths occurred in our region; 32 were Unexplained (i.e. Sudden Infant Death Syndrome - SIDS), 24 Explained, 10 Undetermined, and 7 SUEND. Autopsies were performed in 91% of cases, and in 95% of these by three groups of selected pathologists according to our protocol. We found a low incidence of SUID (0.21 ‰), and SIDS deaths accounted for 0.1‰ of live births (48% of cases) with a high prevalence of infants of non-Italian ethnicity (38% of cases). Bereaved families were able to receive psychological support from mental health professionals and have contact with the family association, Seeds for SIDS. Audits were organized when post-mortem examinations were not carried out or carried out incorrectly in procedural terms, and when the diagnosis was particularly uncertain., Conclusions: This paper first provides data on SUID mortality based on complete post-mortems in an Italian region. According to these findings we can state that our approach is effective both in terms of correctly performed autopsies and support for bereaved families. Future efforts are necessary to further reduce the incidence of SUID especially among non- Italian infants. An improvement action is also recommended for ensuring a more accurate and consistent picture of the circumstances of death. The final approval of the National Protocol for the management of SUID cases is therefore strongly advocated in order to improve surveillance in this specific field and abolish disparities among the Italian regions.

Five years after the first edition, we have revised and updated the guidelines, re-examining the queries and relative recommendations, expanding the issues addressed with the introduction of a new entity, recently proposed by the American Academy of Pediatrics: BRUE, an acronym for Brief Resolved Unexplained Events. In this manuscript we will use the term BRUE only to refer to mild, idiopathic cases rather than simply replace the acronym ALTE per se.In our guidelines the acronym ALTE is used for severe cases that are unexplainable after the first and second level examinations.Although the term ALTE can be used to describe the common symptoms at the onset, whenever the aetiology is ascertained, the final diagnosis may be better specified as seizures, gastroesophageal reflux, infection, arrhythmia, etc. Lastly, we have addressed the emerging problem of the so-called Sudden Unexpected Postnatal Collapse (SUPC), that might be considered as a severe ALTE occurring in the first week of life.

Italy was one of the first industrialized countries to introduce a program of universal vaccination against hepatitis B in 1991. Twenty years later we verified the impact of universal immunisation on the epidemiology of hepatitis B infection by analyzing the prevalence of specific viral markers (anti-HBs, anti-HBc and HBsAg). The ELISA tests were performed on residual blood samples collected by 0.05% of the resident population aged 1-50 years in Tuscany (Italy). About 63% of subjects aged < 30 years were anti-HBs positive compared to about 25% in older subjects, without differences between genders. About 22% of subjects over 40 years were anti-HBc-positive compared to 5% in the younger age groups. The number of HBsAg-positive subjects was almost 10 fold higher in the unvaccinated age groups than in the cohorts involved in the universal vaccination program. The results of our study show the persisting high anti-HBs reactivity in vaccinated cohorts, while HBV markers related to natural exposure or persistent infection remain remarkably higher in older age groups. This sero-epidemiological study supports with prevalence data the downward incidence trend of acute hepatitis B highlighted by epidemiological surveillance systems, and corroborates the forecast for elimination of hepatitis B in Italy in a few decades.

Background: As a part of the National Plan for Measles and Congenital Rubella Elimination, a catch-up campaign targeting children aged 7-14 years with Measles-Mumps-Rubella (MMR) vaccine was conducted during 2004-05 in Tuscany, Central Italy., Methods: To assess the profile of measles and rubella susceptibility, immunoglobulin G antibodies against measles (945 subjects) and rubella (1110 subjects) were detected using two commercial enzyme-linked immunosorbent assay tests in sera from a population aged 1-49 years., Results: Overall immunity towards measles increased in the last years, but the WHO-Euro recommended threshold of susceptibility for elimination was attained only in 2- to 4-year-olds. All fertile women up to 29 years had rates of susceptibility clearly higher than those required by WHO-Euro (5%) to eliminate congenital rubella. Despite the reduction of susceptibility among subjects targeted by the catch-up campaign, continuous efforts to increase immunization coverage are needed to eliminate measles and rubella circulation. Our results are predictive of a high chance of measles and rubella outbreaks because of the accumulation of susceptible individuals., Conclusion: Additional catch-up vaccination strategies targeting the adult population (particularly fertile women) are strongly needed to eliminate the risk of measles and congenital rubella syndrome for future generations.

After a long period of inadequate vaccination coverage, Italy implemented a National Elimination Plan for Measles and Congenital Rubella in 2003, in order to reach the objective by 2010, according to the goals of World Health Organization (WHO) in the European Region. Concerted efforts have been made in the last years in all Italian Regions, leading to substantial increase of coverage both at 24 months of age and in older children, also thanks to a special campaign addressed to school-age subjects. Measles and rubella are at historical lows, although several limited outbreaks occurred in 2006. However, such outbreaks gave the opportunity to show that lab surveillance of cases, identification of contacts and their rapid immunisation are feasible and able to stop further spread of infection. The re-introduction in 2005 of compulsory notification for congenital rubella and rubella during pregnancy has a key role in the evaluation of needs for women at fertile age and to address efforts of vaccination to risk groups, like immigrant women. Although further actions need to be pursued, the increase of vaccination coverage and the strong commitment of the Italian public health service in the Elimination Plan suggest that phase II of measles control is approaching and that final elimination of measles and congenital rubella can be reached in Italy.