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The urologic oncology patient who refuses blood transfusion can present unique challenges in perioperative blood management. Since blood loss and associated transfusion can be expected in many complex urologic oncology surgeries, a multidisciplinary approach may be required for optimal outcomes. Through collaboration with the hematologist, anesthesiologist, and urologist, various techniques can be employed in the perioperative phases to minimize blood loss and the need for transfusion. We review the risks and benefits of these techniques and offer recommendations specific to the urologic oncology patient., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Objective: Months after the declaration of the coronavirus disease of 2019 (COVID-19) national emergency, visits among children remained suppressed for unclear reasons, which we sought to understand by examining child visit rates., Methods: Using de-identified claims data for children <18 years old from OptumLabs® Data Warehouse, a large commercial claims database, we compared monthly primary care visit and vaccination rates from January-October 2020 to January-October 2018 and 2019. Visit rates were analyzed by visit reason and by the month after (eg, month +1) the COVID-19 public health emergency declaration using a series of child-level Poisson regression models., Results: There were 3.4, 3.4, and 3.1 million children in 2018, 2019, and 2020 cohorts, respectively. Compared to the same months in prior years, primary care visits in 2020 were 60% lower in month +1 (incidence rate ratio [IRR] 0.40, 99% confidence interval [CI] 0.40-0.40) and 17% lower in month +7 (IRR 0.83, 99% CI 0.83-0.83). Preventive visit rates were 53% lower in month +1 (IRR 0.47, 99% CI 0.47-0.47), but 8% higher than prior years in month +7 (IRR 1.08, 99% CI 1.08-1.08). Monthly rates of vaccine administration followed a similar pattern. Problem-focused visits remained 31% lower in month +7 (IRR 0.69, 99% CI 0.68-0.69), with notably fewer infection-related visits (acute respiratory tract infections IRR 0.37, 99% CI 0.36-0.37; gastroenteritis IRR 0.20, 99% CI 0.20-0.20)., Conclusion: Seven months after the COVID-19 emergency declaration, receipt of pediatric care remained suppressed due to fewer problem-focused visits, with notably fewer infection-related visits. By October 2020, rates of preventive visits and vaccination exceeded rates in prior years., (Copyright © 2021 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.)

X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the nuclear factor κB essential modulator (NEMO) protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and nonhematopoietic cells. Hematopoietic stem cell transplantation (HSCT) is potentially life-saving, but the small number of case reports available suggests it has been reserved for only the most severe cases. Here, we report the health status before HSCT, transplantation outcome, and clinical follow-up for a series of 29 patients from unrelated kindreds from 11 countries. Between them, these patients carry 23 different hypomorphic IKBKG mutations. HSCT was performed from HLA-identical related donors (n = 7), HLA-matched unrelated donors (n = 12), HLA-mismatched unrelated donors (n = 8), and HLA-haploidentical related donors (n = 2). Engraftment was documented in 24 patients, and graft-versus-host disease in 13 patients. Up to 7 patients died 0.2 to 12 months after HSCT. The global survival rate after HSCT among NEMO-deficient children was 74% at a median follow-up after HSCT of 57 months (range, 4-108 months). Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome. The underlying mutation does not appear to have any influence, as patients with the same mutation had different outcomes. Transplantation did not appear to cure colitis, possibly as a result of cell-intrinsic disorders of the epithelial barrier. Overall, HSCT can cure most clinical features of patients with a variety of IKBKG mutations.

The syndrome of monocytopenia, B-cell and NK-cell lymphopenia, and mycobacterial, fungal, and viral infections is associated with myelodysplasia, cytogenetic abnormalities, pulmonary alveolar proteinosis, and myeloid leukemias. Both autosomal dominant and sporadic cases occur. We identified 12 distinct mutations in GATA2 affecting 20 patients and relatives with this syndrome, including recurrent missense mutations affecting the zinc finger-2 domain (R398W and T354M), suggesting dominant interference of gene function. Four discrete insertion/deletion mutations leading to frame shifts and premature termination implicate haploinsufficiency as a possible mechanism of action as well. These mutations were found in hematopoietic and somatic tissues, and several were identified in families, indicating germline transmission. Thus, GATA2 joins RUNX1 and CEBPA not only as a familial leukemia gene but also as a cause of a complex congenital immunodeficiency that evolves over decades and combines predisposition to infection and myeloid malignancy.

We identified 18 patients with the distinct clinical phenotype of susceptibility to disseminated nontuberculous mycobacterial infections, viral infections, especially with human papillomaviruses, and fungal infections, primarily histoplasmosis, and molds. This syndrome typically had its onset in adulthood (age range, 7-60 years; mean, 31.1 years; median, 32 years) and was characterized by profound circulating monocytopenia (mean, 13.3 cells/microL; median, 14.5 cells/microL), B lymphocytopenia (mean, 9.4 cells/microL; median, 4 cells/microL), and NK lymphocytopenia (mean, 16 cells/microL; median, 5.5 cells/microL). T lymphocytes were variably affected. Despite these peripheral cytopenias, all patients had macrophages and plasma cells at sites of inflammation and normal immunoglobulin levels. Ten of these patients developed 1 or more of the following malignancies: 9 myelodysplasia/leukemia, 1 vulvar carcinoma and metastatic melanoma, 1 cervical carcinoma, 1 Bowen disease of the vulva, and 1 multiple Epstein-Barr virus(+) leiomyosarcoma. Five patients developed pulmonary alveolar proteinosis without mutations in the granulocyte-macrophage colony-stimulating factor receptor or anti-granulocyte-macrophage colony-stimulating factor autoantibodies. Among these 18 patients, 5 families had 2 generations affected, suggesting autosomal dominant transmission as well as sporadic cases. This novel clinical syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern.

This review summarizes the association of increased susceptibility to mycobacterial disease in patients with genetic defects affecting innate and adaptive immunity. The optimum function of CD4 T-cell and macrophage function is critically important for immunity against mycobacteria. Antibody, complement and neutrophil function is not required for effective anti-mycobacterial immunity.