Hematopoietic cell transplantation for telomere biology diseases: A retrospective single-center cohort study.

BACKGROUND: Telomere biology diseases (TBD) result from defective telomere maintenance, leading to bone marrow failure. The only curative treatment for aplastic anemia related to TBD is a hematopoietic cell transplant (HCT). Although reduced-intensity conditioning (RIC) regimens decrease transplant-related mortality, non-hematological phenotypes represent a major challenge and are associated with poor long-term follow-up outcomes. OBJECTIVE: To describe the outcome of TBD patients transplanted for marrow failure. STUDY DESIGN: This is a retrospective, single-center study describing the outcomes of 32 consecutive transplants on 29 patients between 1993 and 2019. RESULTS: The median age at transplantation was 14 years (range, 3-30 years). Most patients received a RIC regimen (n = 28) and bone marrow (BM) from an unrelated donor (n = 16). Four patients received a haploidentical transplant. Chimerism was available for 27 patients with a median time to neutrophil recovery of 20 days (13-36 days). Primary graft failure occurred in one patient, whereas second graft failure occurred in two. Acute GVHD grade II-IV and moderate to severe chronic GVHD occurred in 22% of patients at risk. Fourteen patients were alive after HCT at the last follow-up (median, 6 years; 1.4-19 years). The 5-year overall survival was better after matched sibling donor (MSD) transplantation compared to other hematopoietic stem cell sources (88.9% vs. 47.7%; p = .05; CI = 95%). Overall, 15 patients died after HCT, most of them (n = 11) after the first year of transplant, due to non-hematological disease progression or complication of chronic GVHD. CONCLUSIONS: Hematopoietic cell transplantation is a potentially curative treatment option for TBD, nonetheless the poor outcome reflects the progression of non-hematologic disease manifestations, which should be considered when transplantation is indicated.

Lower nappe aeration in smooth channels: experimental data and numerical simulation

Bed aerators designed to increase air void ratio are used to prevent cavitation and related damages in spillways. Air entrained in spillway discharges also increases the dissolved oxygen concentration of the water, which can be important for the downstream fishery. This study considers results from a systematic series of measurements along the jet formed by a bed aerator, involving concentration profiles, pressure profiles, velocity fields and corresponding air discharges. The experimental results are, then, compared, with results of computational fluid dynamics (CFD) simulations with the aim of predicting the air discharge numerically. Comparisons with jet lengths and the air entrainment coefficients from the literature are also made. It is shown that numerical predictive tools furnish air discharges comparable to measured values. However, if more detailed predictions are desired, verification experiments are still necessary.

Aeradores de fundo projetados para aumentar a concentração de ar são utilizados para previnir a cavitação e danos dela derivados em vertedouros. O oxigênio contido na água também é um parâmetro relevante para garantir alta qualidade das águas a jusante do vertedouro, com reflexos na qualidade ambiental. Equações e critérios de projeto existentes ainda são considerados aproximados, mostrando a necessidade de mais estudos para elucidar os mecanismos que governam o carreamento de ar. Este trabalho apresenta resultados de uma série sistemática de medidas de concentração de ar ao longo da superfície inferior do jato de um aerador de fundo, juntamente com medidas pertinentes de descargas de ar e campos de velocidade da água. Foram feitas comparações com resultados da literatura, considerando perfis de concentração ao longo do jato do aerador até a região de jusante. As medições sob condições controladas forneceram informações necessárias para testar resultados numéricos de aeração obtidos em simulações desses escoamentos, utilizando mecânica dos fluidos computacional (CFD). Mostra-se que ferramentas numéricas preditivas fornecem vazões de ar comparáveis aos valores medidos. Também é concluído que, se detalhes são necessários, experimentos são ainda úteis.