Objectives The number of innate immune system disorders classified as systemic autoinflammatory diseases (SAID) has increased in recent years. More than 70% of patients with clinical manifestations of SAID did not receive a molecular diagnosis, thus being classed as so-called undifferentiated or undefined SAID (uSAID). The aim of the present study was to evaluate a next-generation sequencing (NGS)-based clinically oriented protocol in patients with uSAID. Methods We designed a NGS panel that included 41 genes clustered in seven subpanels. Patients with uSAID were classified into different groups according to their clinical features and sequenced for the coding portions of the 41 genes. Results Fifty patients were enrolled in the study. Thirty-four patients (72%) displayed recurrent fevers not consistent with a PFAPA phenotype. Sixteen patients displayed a chronic inflammatory disease course. A total of 100 gene variants were found (mean 2 per patient; range 0–6), a quarter of which affected suspected genes. Mutations with a definitive diagnostic impact were detected in two patients. Patients with genetically negative recurrent fevers displayed a prevalent gastrointestinal, skin and articular involvement. Patients responded to steroids on demands (94%) and colchicine, with a response rate of 78%. Conclusion Even with a low molecular diagnostic rate, a NGS-based approach is able to provide a final diagnosis in a proportion of uSAID patients with evident cost-effectiveness. It also allows the identification of a subgroup of genetically negative patients with recurrent fever responding to steroid on demand and colchicine.

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Background: The interest in donation after cardiocirculatory death (DCD) donors for lung transplantation (LT) has been recently rekindled due to lung allograft shortage. Clinical outcomes following DCD have proved satisfactory. The aim of this systematic review is to provide a thorough analysis of published experience regarding outcomes of LT after controlled DCD compared with donation after brain death (DBD) donors. Methods: We performed a literature search in Cochrane Database of Systematic Reviews, PubMed and Web of Science using the items "lung transplantation" AND "donation after circulatory death" on November 1, 2018. The full text of relevant articles was evaluated by two authors independently. Quality assessment was performed using the NIH protocol for case-control and case series studies. A pooled Odds ratio (OR) and mean differences with inverse variance weighting using DerSimonian-Laird random effect models were computed to account for between-trial variance (τ2). Results: Of the 508 articles identified with our search, 9 regarding controlled donation after cardiac death (cDCD) were included in the systematic review, including 2973 patients (403 who received graft from DCD and 2570 who had DBD). Both 1-year survival and 2 and 3-grade primary graft dysfunction (PGD) were balanced between the two cohorts (OR = 1.00 and 1.03 respectively); OR for airway complications was 2.07 against cDCD. We also report an OR = 0.57 for chronic lung allograft dysfunction (CLAD) and an OR = 0.57 for 5-year survival against cDCD. Conclusions: Our meta-analysis shows no significant difference between recipients after cDCD or DBD regarding 1-year survival, PGD and 1-year freedom from CLAD. Airway complications and long-term survival were both related with transplantation after cDCD, but these statistical associations need further research.

Lung cancer is one of the leading causes of cancer-related mortality around the world. A prompt diagnosis and accurate staging are of the essence in order to establish the appropriate treatment plan. Mediastinal lymph nodes involvement is the most important parameter to define the therapeutic path, and particularly to decide whether a patient can be offered a potentially curative surgery. Endobronchial ultrasound-transbronchial needle aspiration (EBUS-TBNA), together with oesophageal ultrasound (EUS), has a pivotal role in the diagnosis and staging of lung cancer. These procedures have excellent diagnostic performances, can be performed without requiring general anaesthesia, and are far less invasive than mediastinoscopy and video-assisted thoracic surgery (VATS). Moreover, EBUS-TBNA allows to biopsy intrapulmonary lymph nodes. Different studies have been investigated the diagnostic accuracy of EBUS-TBNA for the diagnosis and staging of lung cancer, with always good but heterogeneous results. In some studies, EBUS-TBNA has shown to yield adequate samples for molecular testing and immunocytochemistry too. Rapid on site cytologic evaluation (ROSE) can be used to assess the adequacy of samples during the endoscopic procedure. The aim of this review article is to describe the current evidence on the diagnostic accuracy of EBUS-TBNA for the diagnosis of lung cancer. We also reported our centre’s experience and the results of 456 EBUS-TBNA performed between April 2016 and March 2020.