Морфология и трехмерные изображения рудника-пещеры Кан-и-Гут

Путём сравнительного анализа и компьютерной обработки данных чертежей и схем из разных источников впервые получена пространственная (3D) модель одного из самых сложных в морфологическом отношении подземелий смешанного типа – рудника-пещеры Кан-и-Гут (Кыргызстан). Описана методика перевода графических данных в цифровой формат. Найдены основные морфометрические параметры полости, представлены трехмерные изображения основных его отделов, обсуждается их морфология. В ряде полостей рудника-пещеры выявлены существенные изменения, произошедшие за последние 50 лет вследствие масштабных обрушений.Шляхом порівняльного аналізу і комп’ютерної обробки даних креслень і схем з різних джерел вперше отримана просторова (3d) модель одного з найскладніших в морфологічному відношенні підземель змішаного типа – копальні-печери Кан-і-Гут (Киргизстан). Описана методика переведення графічних даних в цифровий формат. Знайдені основні морфометричні параметри порожнини, представлені тривимірні зображення основних його відділів, обговорюється їх морфологія. У ряді порожнин копальні-печери виявлені істотні зміни, події за останніх 50 років унаслідок масштабних обвалень.Kan-i-Gut mined cave, located in Kyrgyzstan, is one of the most morphologically complex cavities of mixed genesis. For the first time, a 3D model was developed for this cave by comparative analyses and computer processing of cave maps and mine surveyor plan and profile, obtained from different sources. The methodology of transferring graphical data into digital format is described. Primary morphometric parameters of the mined cave are gathered, and 3D images of its main parts are presented. Essential morphological changes due to vast collapses during the last 50 years were discovered

First Successful Allogeneic Hematopoietic Stem Cell Transplantation for MKL1 Deficiency

Transplantation and immunomodulatio

Hematopoietic stem cell transplantation corrects the immunologic abnormalities associated with immunodeficiency-centromeric instability-facial dysmorphism syndrome.

Immunodeficiency-centromeric instability-facial dysmorphism syndrome, characterized by variable immunodeficiency, centromeric instability, and facial anomalies caused by epigenetic dysregulation resulting in hypomethylation, is caused in many patients by mutations in DNMT3B, a DNA methyltransferase gene; associated infections are a major cause of serious sequelae and death. Hematopoietic stem cell transplantation may improve the clinical course in immunodeficiency-centromeric instability-facial dysmorphism syndrome. We report 3 unrelated patients with persistent infections and intestinal complications who successfully underwent hematopoietic stem cell transplantation after nonmyeloablative or myeloablative conditioning regimens using HLA-matched donors. In all cases, donor chimerism led to resolution of intestinal complications and infections, growth improvement, and correction of the immunodeficiency

Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening.

Contains fulltext : 156888.pdf (publisher's version ) (Open Access)Severe combined immune deficiency (SCID) is a fatal primary immunodeficiency usually presenting in the first months of life with (opportunistic) infections, diarrhea, and failure to thrive. Hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) are curative treatment options. The objective of the study was to assess the morbidity, mortality, and diagnostic and therapeutic delay in children with SCID in the Netherlands in the last 15 years. These data may help to judge whether SCID should be considered to be included in our national neonatal screening program. In the period 1998-2013, 43 SCID patients were diagnosed in the Netherlands, 11 of whom were atypical SCID (presentation beyond the first year). The median interval between the first symptom and diagnosis was 2 months (range 0-1173 months). The total mortality was 42 %. In total, 32 patients were treated with HSCT of whom 8 were deceased. Nine patients died due to severe infectious complications before curative treatment could be initiated. CONCLUSION: Because of a high mortality of patients with SCID before HSCT could be initiated, only a national newborn screening program and pre-emptive HSCT or GT will be able to improve survival of these patients. "WHAT IS KNOWN": * SCID is a fatal disease if a curative hematopoietic stem cell transplantation cannot be performed in time. * Newborn screening for SCID enables early diagnosis in the asymptomatic phase. "WHAT IS NEW": * Nine out of 43 SCID patients in the Netherlands died due to severe infectious complications before curative treatment could be initiated. * Only newborn screening and pre-emptive curative therapy will improve survival of children with SCID in the Netherlands.1 september 201

Overview of 15 Years Severe Combined Immunodeficiency in The Netherlands: Towards Neonatal Blood Spot Screening

Transplantation and immunomodulatio

Overview of 15 Years Severe Combined Immunodeficiency in The Netherlands: Towards Neonatal Blood Spot Screening

Transplantation and immunomodulatio

Pharmacokinetics of Treosulfan in Pediatric Patients Undergoing Hematopoietic Stem Cell Transplantation

Transplantation and immunomodulatio

Decrease of Skin Infiltrating and Circulating CCR10+T Cells Coincides with Clinical Improvement after Topical Tacrolimus in Omenn Syndrome

Transplantation and immunomodulatio

THE ROLE OF GENETIC VARIANTS GSTA1 AND CYP39A1 AND ONTOGENESIS ON BUSULFAN CLEARANCE IN PEDIATRIC PATIENTS UNDERGOING HEMATOPOIETIC SCT

Transplantation and immunomodulatio

Methotrexate prophylaxis prevents severe aGvHD after HLA-identical sibling transplantation for pediatric ALL without compromising relapse risk

Transplantation and immunomodulatio