Complex profile of multiple hepatobiliary and gastrointestinal complications after hematopoietic stem cell transplantation in a child with Nijmegen breakage syndrome.

Patients with Nijmegen breakage syndrome (NBS) can develop life-threatening immunodeficiency, which should be treated with hematopoietic stem cell transplantation (HSCT). We report the case of a 14-year-old girl with NBS who due to an increasing number of severe complications was referred for HSCT from a matched unrelated donor. After reduced-intensity conditioning and transplantation of peripheral blood hematopoietic cells, during the early post-transplant period (days 0-30), the girl suffered from severe mucositis, fever episodes, mild acute renal injury and facial vasculitis.

The Successful Sequential Use of Plerixafor and Eltrombopag For Hematopoietic Cell Transplantation in a Child With High-risk Neuroblastoma.

High-dose chemotherapy with autologous hematopoietic stem cell transplantation improves event-free survival in patients with high-risk neuroblastoma. However, in heavily pretreated patients, poor marrow function can be an obstacle in the successful proceeding of therapy. Priming with plerixafor plus filgrastim is an option for effective mobilization and collection of stem cells.

X-linked TLR7 gene polymorphisms are associated with diverse immunological conditions but not with discoid lupus erythematosus in Polish patients.

Introduction: Toll-like receptor 7 (TLR7) is an important molecule involved in the development of autoimmunity and the response to different pathogens. Several polymorphisms within the gene were previously found to be associated with systemic lupus erythematosus (SLE). However, none of those studies investigated the promoter flanking variants rs1634318 and rs1616583.

Massively parallel targeted resequencing reveals novel genetic variants associated with aspergillosis in paediatric patients with haematological malignancies.

This study aimed to find novel genetic variants of susceptibility to aspąergillosis in paediatric patients with haematological malignancies. Complete sequences of fifteen genes of human innate immunity (CCL2, CCR2, CD209, CLEC6A, CLEC7A and ten TLR genes) were studied in 40 patients diagnosed with haematological disorders (20 unaffected and 20 affected by aspergillosis). All samples were sequenced with MiSeq (Illumina) and 454 (Roche Diagnostics) technologies.

RNA isolation from bloodstains collected on FTA cards - application in clinical and forensic genetics.

Aim of the study: In recent years, RNA analysis has been increasingly used in clinical and forensic genetics. Nevertheless, a major limitation of RNA-based applications is very low RNA stability in biological material, due to the RNAse activity. This highlights the need for improving the methods of RNA collection and storage.

Palifermin in children undergoing autologous stem cell transplantation: a matched-pair analysis.

Background: Keratinocyte growth factor (palifermin) is used for prevention of mucositis in adults following autologous and allogeneic hematopoietic stem cell transplantation (HSCT). It is known that palifermin decreases length of initial hospital stay, mean number of days of total parenteral nutrition (TPN) and the use of opioids for pain control in oral mucositis in adults. There are limited data evaluating palifermin use in children following autologous HSCT.

Intrathecal therapy with rituximab in central nervous system involvement of post-transplant lymphoproliferative disorder.

Post-transplant lymphoproliferative disorder (PTLD) caused by Epstein-Barr virus (EBV) is a severe complication in high-risk allogeneic hematopoietic stem cell transplant (HSCT) recipients. Central nervous system (CNS) involvement of PTLD is a very rare event in patients with HSCT. As no established standard therapy in CNS-EBV-PTLD is available, the aim of this study was analysis of the safety and efficacy of intrathecal rituximab therapy in a group of eight children and adolescents with CNS-EBV-PTLD.

Pneumatosis cystoides interstitialis: A complication of graft-versus-host disease. A report of two cases.

Background: Pneumatosis cystoides intestinalis (PCI) is a rare disorder characterized by the presence of multiple gas collections in the subserosal or submucosal intestinal wall of the large or small intestine. We report two cases of PCI in the course of chronic graft-versus-host disease.

Case Report: A 5-year-old girl was treated for acute lymphoblastic leukemia.

[Skin biopsy in diagnosis of chronic graft-versus-host disease in patients after allogeneic haematopoietic stem cell transplantation: pathologist's point of view on quantitative scoring system].

Background: Pathology diagnosis of chronic graft-versus-host-disease (GVHD) after allogeneic haematopoietic stem cell transplantation (allo-HSCT) is an important issue in clinical follow-up, in spite of frequent difficulties in interpretation., related to dynamic changes occurring in the skin during the disease, as well as to sequelae of basic disease and immunosuppressive therapy. Recently presented Consensus NIH (National Health Institute, Bethesda, USA) of histopathologic (HP) analysis is still complex and intrinsically divergent, thus clinically difficult to implement.

[Efficacy and toxicity of intravenous busulfan-based conditioning treatment before hAematopoietic stem cell transplantation in children: preliminary report].

Background: An intravenous form of busulfan has been developed to replace oral busulfan in conditioning treatment prior to haematopoietic stem cell transplantation (HSCT).

Aim: Retrospective evaluation of the efficacy and safety of iv busulfan in paediatric patients.

Methods: A total number of 33 patients entered the study: 11 patients received intravenous Bu-based conditioning before HSCT (group A; 3 allo, 8 auto); 22 patients received oral Bu-based conditioning (group B; 5 allo, 17 auto).

[G-CSF - primed bone marrow as a stem-cell source for allogeneic bone marrow transplantation in children].

Background: Cell dose is one of the most important factors contributing to transplant success. Collection of G-CSF-stimulated haematopoietic stem cells from peripheral blood in adults belongs to standard procedures in transplantology. The data on collection of G-CSF-stimulated bone marrow, both in adults and children, are lacking.

[Cancer among adolescents 15-19 years of age. Own experience].

Background: Adolescents aged 15-19 years are variably included in analyses of childhood cancer. They should be considered separately because tumours that occur in adolescents differ from those in younger children.

Aim: To describe the distribution of tumour types and treatment results in this group of patients treated in the Department of Pediatric Oncology at The Children's Memorial Health Institute.