Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family

Peer reviewe

Matched unrelated donor transplantation versus haploidentical transplantation with post-transplant cyclophosphamide in children with acute myeloid leukemia: a PDWP-EBMT study

In children with acute myeloid leukemia (AML) who lack an HLA identical sibling, the donor can be replaced with an HLA matched unrelated donor (MUD) or a haploidentical donor (haplo). We compared outcomes of patients <18 years with AML in first and second complete remission (CR1 & CR2) undergoing a hematopoietic stem cell transplantation (HCT) either with a MUD with anti-thymocyte globuline (ATG) (n=420) or a haplo HCT with PT-CY (n=96) after a myeloablative conditioning regimen (MAC) between 2011 and 2021, reported to EBMT. A matched pair analysis was performed to adjust for differences among groups. The final analysis was performed on 253 MUD and 95 haplo-HCTs. In the matched cohort, median age at HCT was 11.2 and 10 years and median year of HCT was 2017 and 2018, in MUD and haplo- HCT recipients, respectively. The risk of grade III-IV aGvHD was significantly higher in the haplo group (HR=2.33, 95%CI1.18-4.58, p=0.03). No significant differences were found in 2 years overall survival (OS; 78.4%vs71.5%; HR 1.39, 0.84-2.31, p=0.19), leukemia-free-survival (LFS; 72.7%vs69.5%; HR1.22, 0.76-1.95, p=0.41), CI of relapse (RI; 19.3%vs19.5%; HR=1.14, 0.62-2.08, p=0.68) non-relapse-mortality (NRM; 8%vs11%; HR=1.39, 0.66-2.93, p=0.39) and graft versus host free-relapse free survival (GRFS; 60.7%vs54.5%, HR=1.38, 0.95-2.02, p=0.09) after MUD and haplo-HCT respectively. Our study suggests that haplo-HCT with PT-CY is a suitable option to transplant children with AML lacking a matched related donor

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal dominant mutations in PIK3CD (APDS1) or PIK3R1 (APDS2), is a heterogeneous primary immunodeficiency. While initial cohort-descriptions summarized the spectrum of clinical and immunological manifestations, questions about long-term disease evolution and response to therapy remain. The prospective European Society for Immunodeficiencies (ESID)-APDS registry aims to characterize the disease course, identify outcome predictors, and evaluate treatment responses. So far, 77 patients have been recruited (51 APDS1, 26 APDS2). Analysis of disease evolution in the first 68 patients pinpoints the early occurrence of recurrent respiratory infections followed by chronic lymphoproliferation, gastrointestinal manifestations, and cytopenias. Although most manifestations occur by age 15, adult-onset and asymptomatic courses were documented. Bronchiectasis was observed in 24/40 APDS1 patients who received a CT-scan compared with 4/15 APDS2 patients. By age 20, half of the patients had received at least one immunosuppressant, but 2–3 lines of immunosuppressive therapy were not unusual before age 10. Response to rapamycin was rated by physician visual analog scale as good in 10, moderate in 9, and poor in 7. Lymphoproliferation showed the best response (8 complete, 11 partial, 6 no remission), while bowel inflammation (3 complete, 3 partial, 9 no remission) and cytopenia (3 complete, 2 partial, 9 no remission) responded less well. Hence, non-lymphoproliferative manifestations should be a key target for novel therapies. This report from the ESID-APDS registry provides comprehensive baseline documentation for a growing cohort that will be followed prospectively to establish prognostic factors and identify patients for treatment studies

Efficient method of eliminating accidental damage of sewer tunnel

The article is devoted to the development of technological and organizational solutions for elimination of local emergency damage to sewage tunnel collectors. In the article, conditions of operation and constructions of the sewage tunnel collector destroyed by corrosion are investigated on Grekovska street in Kharkiv, Ukraine; the methods of production of repair and restoration works are analyzed in this article; technological and organizational solutions have been developed for the liquidation of emergency damage to sewage tunnel collectors, taking into account technical, organizational and economic indicators. Thus, when comparing recovery options by different methods, it is noted that the proposed technology is more economically feasible in view of the relatively low cost of the material for this solutions. At the same time, the duration of the work by the proposed method of extrusion by introducing a secondary lining with anticorrosive properties will be reduced by 30%

Efficient method of eliminating accidental damage of sewer tunnel

The article is devoted to the development of technological and organizational solutions for elimination of local emergency damage to sewage tunnel collectors. In the article, conditions of operation and constructions of the sewage tunnel collector destroyed by corrosion are investigated on Grekovska street in Kharkiv, Ukraine; the methods of production of repair and restoration works are analyzed in this article; technological and organizational solutions have been developed for the liquidation of emergency damage to sewage tunnel collectors, taking into account technical, organizational and economic indicators. Thus, when comparing recovery options by different methods, it is noted that the proposed technology is more economically feasible in view of the relatively low cost of the material for this solutions. At the same time, the duration of the work by the proposed method of extrusion by introducing a secondary lining with anticorrosive properties will be reduced by 30%

Biologization of grape growing technologies to obtain safe and high-quality products

Viticulture is impossible without the use of chemical plant protection agents. Their use follows to ecological destabilization of ampelocenoses and constitutes real danger to human health. Last years there is a tendency to biologize the protection technologies that the relevance of studies of the influence of biopreparations on the quality of graps and wines. The article presents the results studies of fungicide action of the preparations Biocomposite-correct and Biocomposite-protect. Their high anti-mycotic activity (97-100%) against Trichothecium roseum and Botrytis cinerea has been established. The high efficiency in the control of grey rot on grapes cultivar Merlot showed a two-fold application of the Biocomposite-protect– the damage to grapes decreased by 2 times in comparison with the control and amounted to 0.3%. Using of biofungicides did not affect the of mush/must fermentation. The test wines were distinguished by a higher (by 13-28%) concentration of phenolic substances. The use of Biocomposite-protect followed to an increase of anthocyanins concentration (by 1.5 times) and the total dry extract (by 12%) in wines; decrease – of titratable acids; Biocomposite-correct – decrease the total dry extract (by 10%). Using of biological preparations for grape protection did not influence the organoleptic quality of wines