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Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
TLDR
GATA2 mutations are identified as the most common germline defect predisposing to pediatric MDS with a very high prevalence in adolescents with monosomy 7, and the high risk for progression to advanced disease must guide decision-making toward timely HSCT.
Immune reconstitution after haematopoietic cell transplantation in children: immunophenotype analysis with regard to factors affecting the speed of recovery
TLDR
The results demonstrated that T‐cell recovery was severely impaired in children after autologous HCT, and it should be emphasized that specific approaches to enhance immune reconstitution are necessary to control minimal residual disease and avoid the risk of infectious complications in the autOLOGous setting.
PCR diagnostics and monitoring of adenoviral infections in hematopoietic stem cell transplantation recipients
TLDR
Analysis of immune reconstitution showed a higher incidence of adenovirus infections during periods of low T-lymphocyte count, and a strong interaction between co-infections of AdV and BK polyomavirus in patients undergoing hematopoietic stem cell transplantations.
Higher CD34(+) and CD3(+) cell doses in the graft promote long-term survival, and have no impact on the incidence of severe acute or chronic graft-versus-host disease after in vivo T cell-depleted
TLDR
It is demonstrated for the first time in a pediatric cohort, that higher doses of transplanted CD34(+) and CD3(+) cells lead to an improved survival without an increased risk of severe GVHD.
Steroid-sparing effect of extracorporeal photopheresis in the therapy of graft-versus-host disease after allogeneic hematopoietic stem cell transplantation.
TLDR
The ECP therapy significantly reduced the rates of remissions with steroid discontinuation among cGVHD but not aGVHD patients, and Photopheresis was a safe, effective method to treat steroid-resistant cGV HD.
Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency
TLDR
Severe, likely late stage RNA loss without splicing disruption was found for other mutations and the synonymous mutations did not alter protein function or stability, which has broad implications for genetic counseling and pathogenic variant discovery in Mendelian disorders.
Hematuria due to adenoviral infection in bone marrow transplant recipients.
TLDR
The study confirmed the suggestion that non-AdV coinfections may worsen the course of AdV-HC and reported a retrospective study of 84 hematopoietic stem cell transplant recipients that evaluated the incidence and risk factors for Adv-induced HC.
Consolidation of first-line therapy with busulphan and melphalan, and autologous stem cell rescue in children with Ewing’s sarcoma
TLDR
The observation confirms that the consolidation of the first-line treatment with BU and melphalan improves the outcome in ES patients with HR features.
Impact of Disseminated Neuroblastoma Cells on the Identification of the Relapse-Seeding Clone
TLDR
The data support the hypothesis of a branched clonal evolution and a parallel progression of primary and metastatic tumor cells and suggest that searching for biomarkers to identify the relapse-seeding clone should involve diagnostic DTCs alongside the tumor tissue.
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