L’Accademia delle idee : iniziativa dei giovani per i giovani. Contenitore di progetti innovativi?

L\u2019Accademia delle Idee \ue8 un\u2019iniziativa della Societ\ue0 Italiana di Nefrologia, dedicata ai giovani che lavorano in ambito nefrologico. La proposta \ue8 nata con l\u2019obiettivo di mettere in comunicazione i giovani nefrologi ed il mondo imprenditoriale e dare loro una possibilit\ue0 per valorizzare le Idee con immediata applicabilit\ue0 che nascono dall\u2019attivit\ue0 di ricerca clinica. Ha l\u2019obiettivo inoltre di creare una rete di conoscenza e collaborazione tra i giovani ricercatori della nefrologia italiana per facilitare l\u2019instaurarsi di rapporti di collaborazione e favorire la creazione di nuovi progetti e la pubblicazione di lavori di elevato impatto scientifico. Il presente articolo descriver\ue0 l\u2019evento svolto, mostrando punti forti e criticit\ue0 anche attraverso le impressioni dei partecipanti ed esporr\ue0 ambizioni e aspirazioni per il prossimo futuro

Use of Telemedicine Healthcare Systems in Children and Adolescents with Chronic Disease or in Transition Stages of Life: Consensus Document of the Italian Society of Telemedicine (SIT), of the Italian Society of Preventive and Social Pediatrics (SIPPS), of the Italian Society of Pediatric Primary Care (SICuPP), of the Italian Federation of Pediatric Doctors (FIMP) and of the Syndicate of Family Pediatrician Doctors (SIMPeF)

Telemedicine is considered an excellent tool to support the daily and traditional practice of the health profession, especially when referring to the care and management of chronic patients. In a panorama in which chronic pathologies with childhood onset are constantly increasing and the improvement of treatments has allowed survival for them into adulthood, telemedicine and remote assistance are today considered effective and convenient solutions both for the chronic patient, who thus receives personalized and timely assistance, and for the doctors, who reduce the need for direct intervention, hospitalizations and consequent management costs. This Consensus document, written by the main Italian Scientific Societies involved in the use of telemedicine in pediatrics, has the objectives to propose an organizational model based on the relationships between the actors who participate in the provision of a telemedicine service aimed at minors with chronic pathologies, identifying specific project links between the areas of telemedicine in the developmental age from the first 1000 days of life to the age adult. The future scenario will have to be able to integrate digital innovation in order to offer the best care to patients and citizens. It will have to be able to provide the involvement of patients from the very beginning of the design of any care pathway, increasing where possible the proximity of the health service to citizens

Inter-society consensus for the use of inhaled corticosteroids in infants, children and adolescents with airway diseases

Background: In 2019, a multidisciplinary panel of experts from eight Italian scientific paediatric societies developed a consensus document for the use of inhaled corticosteroids in the management and prevention of the most common paediatric airways disorders. The aim is to provide healthcare providers with a multidisciplinary document including indications useful in the clinical practice. The consensus document was intended to be addressed to paediatricians who work in the Paediatric Divisions, the Primary Care Services and the Emergency Departments, as well as to Residents or PhD students, paediatric nurses and specialists or consultants in paediatric pulmonology, allergy, infectious diseases, and ear, nose, and throat medicine. Methods: Clinical questions identifying Population, Intervention(s), Comparison and Outcome(s) were addressed by methodologists and a general agreement on the topics and the strength of the recommendations (according to the GRADE system) was obtained following the Delphi method. The literature selection included secondary sources such as evidence-based guidelines and systematic reviews and was integrated with primary studies subsequently published. Results: The expert panel provided a number of recommendations on the use of inhaled corticosteroids in preschool wheezing, bronchial asthma, allergic and non-allergic rhinitis, acute and chronic rhinosinusitis, adenoid hypertrophy, laryngitis and laryngospasm. Conclusions: We provided a multidisciplinary update on the current recommendations for the management and prevention of the most common paediatric airways disorders requiring inhaled corticosteroids, in order to share useful indications, identify gaps in knowledge and drive future research

High throughput sequencing in sporadic forms of steroid-resistant nephrotic syndrome in children frequently identifies heterogeneous genetic alterations that predict resistance to immunosuppressive treatments

In children, sporadic nephrotic syndrome can be related to a genetic cause, but to what extent genetic alterations associate with resistance to immunosuppression is unknown. In this study, we designed a custom array for next-generation sequencing analysis of 19 target genes, reported as possible causes of nephrotic syndrome, in a cohort of 31 children affected by sporadic steroid-resistant nephrotic syndrome and 38 patients who exhibited a similar but steroid-sensitive clinical phenotype. Patients who exhibited extrarenal symptoms, had a familial history of the disease or consanguinity, or had a congenital onset were excluded. We identified a genetic cause in 32.3% of the children with steroid-resistant disease but zero of 38 children with steroid-sensitive disease. Genetic alterations also associated with lack of response to immunosuppressive agents in children with steroid-resistant disease (0% of patients with alterations versus 57.9% of patients without alterations responded to immunosuppressive agents), whereas clinical features, age at onset, and pathologic findings were similar in steroid-resistant patients with and without alterations

Identification and characterization of a new candidate gene for steroid resistant nephrotic syndrome

Nephrotic syndrome (NS) is characterized by consistent proteinuria, oedema, hypoalbuminemia, and it can be classified as steroid-sensitive (about 90%) or steroid-resistant (SRNS-about 10%). To date, mutations in at least 15 genes have been found to cause SRNS and although mutations in NPHS1 or NPHS2 are frequent causes of children SNSR, mutations in other genes are very rare. In addition, multiple allelism and heterogeneity together with a phenotypic clinical overlap require an extensive mutational analysis effort to identify the molecular aetiology. To identify SRNS by molecular diagnosis has important clinical implication, as this would prevent unnecessary administration of corticosteroids and immunosuppressants. We performed targeting and whole-exome (re)sequencing in 25 probands with a diagnosis of a paediatric SNSR (including 25 subjects steroid-sensitive). Because mutations in several genes have been demonstrated to lead to familial or sporadic SNSR, we focused our attention on these genes and on those candidates potentially implicated in the pathogenesis of the disorder. We identified a putative new candidate gene that may allow to define a novel clinical entity in the field of genetic disorders (hyperactivation of this gene was described to cause NS in podocyte-specific transgenic mice). Definition of the causative role of these mutations would represent the first case of an defect leading to a disorder where SRNS is part of a more complex clinical syndrome including also immunologic alterations. The results of our work may lead to the identification of a new causative gene for SRNS and provide definition of a previously unidentified clinical syndrom