Quality performance measures for small capsule endoscopy: Are the ESGE quality standards met?

Background and study aims The European Society of Gastrointestinal Endoscopy (ESGE) recently issued a quality performance measures document for small bowel capsule endoscopy (SBCE). The aim of this nationwide survey was to explore SBCE practice with ESGE quality measures as a benchmark. Patients and methods A dedicated per-center semiquantitative questionnaire based on ESGE performance measures for SBCE was created by a group of SBCE experts. One-hundred-eighty-one centers were invited to participate and were asked to calculate performance measures for SBCE performed in 2018. Data were compared with 10 ESGE quality standards for both key and minor performance measures. Results Ninety-one centers (50.3 %) participated in the data collection. Overall in the last 5 years (2014–2018), 26,615 SBCEs were performed, 5917 of which were done in 2018. Eighty percent or more of the participating centers reached the minimum standard established by the ESGE Small Bowel Working Group (ESBWG) for four performance measures (indications for SBCE, complete small bowel evaluation, diagnostic yield and retention rate). Conversely, compliance with six minimum standards established by ESBWG concerning adequate bowel preparation, patient selection, timing of SBCE in overt bleeding, appropriate reporting, reading protocols and referral to device-assisted enteroscopy was met by only 15.5%, 10.9%, 31.1%, 67.7%, 53.4%, and 32.2% of centers, respectively. Conclusions The present survey shows significant variability across SBCE centers; only four (4/10: 40 %) SBCE procedural minimum standards were met by a relevant proportion of the centers ( ≥ 80 %). Our data should help in identifying target areas for quality improvement programs in SBCE

Hematopoietic cell transplantation in severe combined immunodeficiency : The SCETIDE 2006-2014 European cohort

Publisher Copyright: © 2021 The AuthorsBackground: Hematopoietic stem cell transplantation (HSCT) represents a curative treatment for patients with severe combined immunodeficiency (SCID), a group of monogenic immune disorders with an otherwise fatal outcome. Objective: We performed a comprehensive multicenter analysis of genotype-specific HSCT outcome, including detailed analysis of immune reconstitution (IR) and the predictive value for clinical outcome. Methods: HSCT outcome was studied in 338 patients with genetically confirmed SCID who underwent transplantation in 2006-2014 and who were registered in the SCETIDE registry. In a representative subgroup of 152 patients, data on IR and long-term clinical outcome were analyzed. Results: Two-year OS was similar with matched family and unrelated donors and better than mismatched donor HSCT (P 0.5 × 10e3/μL at +1 year were identified as independent predictors of favorable clinical and immunologic outcome. Conclusion: Recent advances in HSCT in SCID patients have resulted in improved OS and EFS in all genotypes and donor types. To achieve a favorable long-term outcome, treatment strategies should aim for optimal naive CD4 T lymphocyte regeneration.Peer reviewe

Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review

Hemophagocytic inflammatory syndrome (HIS) is a rare form of secondary hemophagocytic lymphohistiocytosis caused by an impaired equilibrium between natural killer and cytotoxic T-cell activity, evolving in hypercytokinemia and multiorgan failure. In the context of inborn errors of immunity, HIS occurrence has been reported in severe combined immunodeficiency (SCID) patients, including two cases of adenosine deaminase deficient-SCID (ADA-SCID). Here we describe two additional pediatric cases of ADA-SCID patients who developed HIS. In the first case, HIS was triggered by infectious complications while the patient was on enzyme replacement therapy; the patient was treated with high-dose corticosteroids and intravenous immunoglobulins with HIS remission. However, the patient required HLA-identical sibling donor hematopoietic stem cell transplantation (HSCT) for a definitive cure of ADA-SCID, without HIS relapse up to 13 years after HSCT. The second patient presented HIS 2 years after hematopoietic stem cell gene therapy (GT), secondarily to Varicella-Zoster vaccination and despite CD4+ and CD8+ lymphocytes’ reconstitution in line with other ADA SCID patients treated with GT. The child responded to trilinear immunosuppressive therapy (corticosteroids, Cyclosporine A, Anakinra). We observed the persistence of gene-corrected cells up to 5 years post-GT, without HIS relapse. These new cases of children with HIS, together with those reported in the literature, support the hypothesis that a major dysregulation in the immune system can occur in ADA-SCID patients. Our cases show that early identification of the disease is imperative and that a variable degree of immunosuppression could be an effective treatment while allogeneic HSCT is required only in cases of refractoriness. A deeper knowledge of immunologic patterns contributing to HIS pathogenesis in ADA-SCID patients is desirable, to identify new targeted treatments and ensure patients’ long-term recovery

Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency

6noPURPOSE: Complete signal transducer and activator of transcription 1 (STAT1) deficiency is a rare autosomal recessive condition characterized by impairment of intracellular signaling from both type I and type II interferons (IFN). Affected patients are prone to early severe mycobacterial and viral infections, which usually result in death before 18 months of age. We previously reported a patient affected by complete STAT1 deficiency who underwent hematopoietic stem cell transplantation (HSCT). Here, we describe the transplantation procedures and long-term outcomes. METHODS: The patient, who had suffered multiple life-threatening mycobacterial and viral infections in the first years of life, underwent HSCT at 4 years of age from a partially matched (HLA compatibility 8/10) unrelated donor after a myeloablative conditioning regimen consisting of busulfan, cyclophosphamide, and anti-thymocyte globulin. RESULTS: Hematological reconstitution was detected at d+15, with full donor engraftment demonstrated by molecular analysis of leukocytes. Several complications occurred in the post-transplantation phase, including acute graft versus host disease, posterior reversible encephalopathy, thrombotic thrombocytopenic purpura, bilateral keratoconjunctivitis with complete loss of vision, and chronic lower limb lymphedema. Analysis of STAT1 in CD3+ cells at 90 and 120 days after HSCT by flow cytometry showed normal STAT1 phosphorylation levels in response to IFN-α. CONCLUSIONS: Notably, no severe infections occurred after discharge (day + 90) during a 9-year follow-up, suggesting that normal response to IFNs in hematopoietic cells is sufficient to provide protection in humans.partially_openembargoed_20180901Naviglio, Samuele; Soncini, Elena; Vairo, Donatella; Lanfranchi, Arnalda; Badolato, Raffaele; Porta, FulvioNaviglio, Samuele; Soncini, Elena; Vairo, Donatella; Lanfranchi, Arnalda; Badolato, Raffaele; Porta, Fulvi