Spinal muscular atrophy (SMA) is a genetic neuromuscular disease resulting in global muscular weakness and, frequently, in respiratory failure and premature death. Gene-based therapies like Nusinersen are now available for patients with SMA. The aim of this review was to assess in “real world” studies, whether novel treatments would have a positive impact on the mechanical ventilatory support requirements of SMA patients, already initiated on ventilatory support prior to treatment administration. A literature search was performed in Pubmed using multiple combinations of MESH terms and the snowball procedure. A total of 14 publications were discussed in this review. Considering all patients included in the published studies who were on ventilatory support and were treated with Nusinersen, 13/172 (7.5%) had reduced needs for ventilatory support, 1/172 (0.6%) did not need ventilation post-treatment, and 122/172 (70.9%) were maintained on the same ventilator settings. Moreover, 2/41 (4.9%) children who were offered gene therapy had no need for further ventilatory support and 12/41 (29.2%) had reduced requirements. In conclusion, available evidence suggests that among children with SMA, who are on mechanical respiratory support either noninvasively or via tracheostomy at the time of gene-based treatment, only a few will be weaned off the ventilator or have reduced ventilator needs per 24 h. Children will usually require the same level of support as before treatment.

Myocarditis represents a potential complication of various infectious and noninfectious agents and a common diagnostic challenge for clinicians. Data regarding Campylobacter-associated myocarditis are limited. Here, a case of a 13-year-old female with Campylobacter jejuni gastroenteritis complicated by myocarditis is presented, followed by a literature review in order to retrieve information about Campylobacter-associated carditis in the pediatric population. A search on MEDLINE/PubMed yielded 7relevant cases in the last 20 years. Most of them (six/seven) were males and the mean age was 16.1 years. All patients presented with gastrointestinal symptoms followed in six/seven cases by chest pain within two to seven days. Campylobacter was isolated from stool cultures in six patients; abnormal electrocardiographic findings were detected in six; and abnormal echocardiographic findings in three of the cases. Five patients were treated with antibiotics. Full recovery was the clinical outcome in six patients, whereas one patient died. Concerning the nonspecific symptoms of patients with myocarditis, high clinical suspicion of this complication is necessary in cases where patients with a recent infection present with chest pain and elevated cardiac biomarkers.

Healthcare systems around the world have faced an unprecedented situation due to the COVID‐19 pandemic. This perspective focuses on the challenges faced by the country’s largest children’s hospital in Athens, and how it managed suspected paediatric cases.

Introduction: Respiratory failure, is a common source of morbidity and mortality of Spinal Muscular Atrophy 1 (SMA1) patients. Up until now there is few “real world” data regarding the effect of Onasemnogene abeparvovec (gene therapy) on the respiratory health of such patients. Aim of this study is to demonstrate if the possible effect is positive Materials and methods: We have retrospectively reviewed the records at Evelina London Children’s Hospital and identified 10 SMA1 patients, who have received gene therapy between May 2021 and August 2022 and were followed up, up to 12 months. Demographics, ventilator parameters, admissions, feeding mode and CHOP-INTEND scores were assessed Results: All patients had 2 SMN Copies. The median age at diagnosis was 4 m and at treatment 6.5 m. 5 had received previously Nusinersen. 4 presented acutely with respiratory failure without diagnostic sleep study prior to initiation of NIV. All of 4 spontaneous breathing at baseline patients, were started on NIV later. One showed reduction in the ventilation pressures, whereas two showed increase and all of the patients stayed on NIV during sleep for the whole FU period. 3 patients were able to change from alternative to oral feeds. All except one patient, improved CHOP-Intend scores Discussion: Our findings come in accordance with literature as most of the patients showed unchanged ventilatory needs, if already on NIV on time of treatment. None needed more than 16 hours/day or tracheostomy. Gene therapy9s positive effect on bulbar tone does not seem to correlate with respiratory support needs. Sleep studies are needed as a tool of objective assessment of respiratory function. More research is needed