Ежегодная конференция (Общее собрание) членов Ассоциации ЭБНИТ. Обзор работы

The annual Conference (General Meeting) of the members of the International Association of Users and Developers of Electronic Libraries and New Information Technologies (ELNIT) held within the framework of the Third World Professional Forum “The Book. Culture. Education. Innovations” - “Crimea-2017” (June 3-11, 2017, Sudak, Republic of Crimea, Russian Federation) is reviewed. The speeches delivered by ELNIT Association President and Executive Director are highlighted. The resolutions adopted by the Association Conference are quoted.Освещена работа Ежегодной конференции (Общего собрания) членов Международной ассоциации пользователей и разработчиков электронных библиотек и новых информационных технологий, прошедшей в дни работы Третьего международного профессионального форума «Книга. Культура. Образование. Инновации» - «Крым-2017» (3-11 июня 2017 г., Судак, Республика Крым, РФ). Кратко изложены выступления президента Ассоциации ЭБНИТ и её исполнительного директора. Приведены решения, принятые в ходе конференции Ассоциации

Ежегодная конференция Ассоциации ЭБНИТ. Обзор работы

The annual conference (general meeting) of the members of the International Association of Users and Developers of Electronic Libraries and New Information Technologies held during the Second World Professional Forum “The Book. Culture. Education. Innovations” (“Crimea-2016”) (June 4-12, 2016, Sudak, Republic of Cromea, Russian Federation) is reviewed. Reports by ELNIT President and Executive Director are summarized. Resolutions of the general meeting of ELNIT Association members are discussed.Освещена работа Ежегодной конференции (Общего собрания) членов Международной ассоциации пользователей и разработчиков электронных библиотек и новых информационных технологий, прошедшей в рамках Второго международного профессионального форума «Книга. Культура. Образование. Инновации» («Крым-2016») (4-12 июня 2016 г., г. Судак, Республика Крым). Кратко изложены выступления президента Ассоциации ЭБНИТ и её исполнительного директора. Представлены решения, принятые по итогам работы конференции Ассоциации

Prospective Study of a Cohort of Russian Nijmegen Breakage Syndrome Patients Demonstrating Predictive Value of Low Kappa-Deleting Recombination Excision Circle (KREC) Numbers and Beneficial Effect of Hematopoietic Stem Cell Transplantation (HSCT)

BackgroundNijmegen breakage syndrome (NBS) is a combined primary immunodeficiency with DNA repair defect, microcephaly, and other phenotypical features. It predominantly occurs in Slavic populations that have a high frequency of carriers with the causative NBN gene c.657_661del5 mutation. Due to the rarity of the disease in the rest of the world, studies of NBS patients are few. Here, we report a prospective study of a cohort of Russian NBS patients.Methods35 Russian NBS patients of ages 1–19 years, referred to our Center between years 2012 and 2016, were prospectively studied.ResultsDespite the fact that in 80% of the patients microcephaly was diagnosed at birth or shortly thereafter, the average delay of NBS diagnosis was 6.5 years. Though 80% of the patients had laboratory signs of immunodeficiency, only 51% of the patients experienced significant infections. Autoimmune complications including interstitial lymphocytic lung disease and skin granulomas were noted in 34%, malignancies—in 57% of the patients. T-cell excision circle (TREC)/kappa-deleting recombination excision circle (KREC) levels were low in the majority of patients studied. Lower KREC levels correlated with autoimmune and oncological complications. Fifteen patients underwent hematopoietic stem cell transplantation (HSCT), 10 of them were alive and well, with good graft function. Three patients in the HSCT group and five non-transplanted patients died; tumor progression being the main cause of death. The probability of the overall survival since NBS diagnosis was 0.76 in the HSCT group and 0.3 in the non-transplanted group.ConclusionBased on our findings of low TRECs in most NBS patients, independent of their age, TREC detection can be potentially useful for detection of NBS patients during neonatal screening. KREC concentration can be used as a prognostic marker of disease severity. HSCT is a viable treatment option in NBS and should be especially considered in patients with low KREC numbers early on, before development of life-threatening complications