UNASSIGNED: Bone marrow transplantation (BMT) saves lives in Omenn syndrome, a severe immunodeficiency disorder. Timely genetic diagnosis and matched donor BMT are crucial. Emphasis on newborn screening and multidisciplinary care improves outcomes for infants with inherited disorders. Prompt intervention and comprehensive management are vital for a successful transplant outcome.
UNASSIGNED: Omenn syndrome represents a severe variant of combined immunodeficiency characterized by disregulated immune responses and susceptibility to recurrent infections. We present the case of a 3-month-old female infant initially presenting with upper respiratory infection symptoms and a diffuse rash, unresponsive to local treatment. At 4 months of age, the patient underwent allogeneic bone marrow transplantation (BMT) utilizing stem cells from a fully matched sibling donor. Pre-transplant conditioning included antimicrobial prophylaxis and supportive therapies. Following BMT, the patient received immunosuppressive medications to prevent graft rejection and graft-versus-host disease. Clinical monitoring post-transplant showed timely neutrophil and platelet engraftment, with subsequent follow-up demonstrating stable clinical parameters and negative cytomegalovirus status. The case highlights the importance of timely diagnosis and treatment in managing severe immunodeficiency disorders, demonstrating the potential for successful outcomes with appropriate timely interventions. Regular monitoring and follow-up appointments were crucial in ensuring the success of the treatment. This case also emphasizes the significance of multidisciplinary care and genetic testing in identifying and managing rare immunodeficiency disorders. The successful outcome in this case provides hope for improved treatment options and better patient outcomes in the future.

Aim: To assess the efficacy of a bioregenerative scaffold derived from bone marrow aspirate, cancellous bone autograft, platelet-rich plasma and autologous fibrin in treating supracondylar femur nonunions. Methods & materials: Three patients with nonunions following multiple surgical failures underwent bone stabilization and the application of a novel bioregenerative scaffold. x-rays and subjective scales were collected before surgery and at 6, 12 and 24 months post-surgery. Results: All nonunions exhibited healing with sufficient callus formation, as confirmed radiologically. After 6 months, all patients resumed full weight-bearing walking without pain. Statistical analysis showed improvements in all scales compared with pre-surgical values. Conclusion: This method presents itself as an option for treating supracondylar femur nonunions following multiple surgical failures.
What is this summary about? The objective of this case series study was to evaluate the effectiveness of a new biological autologous scaffold, comprised of stem and blood cells along with blood derivatives, in treating challenging cases of supracondylar femur nonunions.What were the results? Three participants underwent the application of this surgical method and were monitored for a period of 2 years. The therapy was well tolerated and deemed safe. Notably, all three patients experienced significant reductions in pain and improvements in functionality. Within a few months, they were able to walk with full weightbearing without pain, and clear indications of progressing toward bone union were evident by the 6 months.What do the results mean? This study demonstrates that the surgical application of autologous blood, cancellous bone and bone marrow, following the described concept and method, is an effective, safe and enduring treatment for femur nonunions. It markedly diminishes pain, enhances leg function and yields statistically significant improvements in quality of life.

Virus-specific T cells (VST) from partially-HLA matched donors have been effective for treatment of refractory viral infections in immunocompromised patients in prior studies with a good safety profile, but rare adverse events have been described. Here we describe a unique and severe adverse event of VST therapy in an infant with severe combined immunodeficiency, who receives, as part of a clinical trial (NCT03475212), third party VSTs for treating cytomegalovirus viremia following bone marrow transplantation. At one-month post-VST infusion, rejection of graft and reversal of chimerism is observed, as is an expansion of T cells exclusively from the VST donor. Single-cell gene expression and T cell receptor profiling demonstrate a narrow repertoire of predominantly activated CD4+ T cells in the recipient at the time of rejection, with the repertoire overlapping more with that of peripheral blood from VST donor than the infused VST product. This case thus demonstrates a rare but serious side effect of VST therapy.

Chronic myeloid leukemia is a myeloproliferative neoplasm characterized by the presence of the Philadelphia chromosome and the consequent BCR::ABL1 oncoprotein. In the era before the introduction of tyrosine kinase inhibitors (TKIs), the only potentially curative treatment was allogeneic hematopoietic stem cell transplantation (HSCT). Here, we present the case of a patient affected by CML who experienced a relapse 20 years after allogeneic HSCT. Following relapse, the patient was treated with imatinib and bosutinib, resulting in a deep molecular response and successfully discontinued treatment. Additional analysis including whole-exome sequencing and RNA sequencing provided some insights on the molecular mechanisms of the relapse: the identification of the fusion transcript KANSL1::ARL17A (KANSARL), a cancer predisposition fusion gene, could justify a condition of genomic instability which may be associated with the onset and/or probably the late relapse of his CML.

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UNASSIGNED: The incidence of bladder cancer following transplantation is high; however, no previous studies have reported the development of bladder cancer following bone marrow and bilateral lung transplantations.
UNASSIGNED: A 42-year-old man who was followed for bilateral lung transplantation due to chronic graft-versus-host disease following bone marrow transplantation complained of gross hematuria. Transurethral resection of the bladder tumor was performed for cT1N0M0 bladder cancer. On the following night, he experienced severe respiratory failure and was intubated. He was discharged on postoperative day 32 with the introduction of home oxygen therapy. The pathological diagnosis was invasive urothelial carcinoma, high-grade, pT1, with urothelial carcinoma in situ. Further treatment could not be performed because of his poor performance status and immunosuppressive state.
UNASSIGNED: Vigorous screening for bladder cancer coexisting with other malignancies should be performed for transplant recipients for the early diagnosis and prompt treatment of a relatively aggressive bladder cancer.

UNASSIGNED: This study reports cases of systemic-onset juvenile idiopathic arthritis (sJIA) who underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT) at our center and reviews published outcomes of allo-HSCT in sJIA.
UNASSIGNED: We present a case report of two patients with sJIA who underwent allo-HSCT at a tertiary pediatric hospital. Each patient\'s disease course and allo-HSCT protocol/outcome are described. Outcomes of published cases of allo-HSCT in sJIA were compared to our experience.
UNASSIGNED: Two patients with sJIA had allo-HSCT. Both failed multiple lines of disease-modifying anti-rheumatic drugs and experienced severe disease/treatment-related complications. Despite post-HSCT complications, both recovered without sequelae. Five years post-HSCT, patient 1 is in complete remission (CR) and is off medications. Patient 2 was in CR until 11 months post-HSCT after which he developed three disease flares. At 4 years post-HSCT he is currently in CR on Adalimumab monotherapy. Engraftment was excellent with a donor chimerism of 100% for patient 1 and 93% for patient 2. In the literature, the outcome of allo-HSCT is reported in 13 sJIA patients. When merging those with our 2 patients, 1/15 patients died and 13/14 achieved CR, of which 12 are off medications (median [range] follow-up: 2.2 [0.2-7.0] years). Extended follow-up data on 11 of the 13 reported sJIA patients showed that an additional 3 patients flared at 3, 4, and 10 years post-HSCT.
UNASSIGNED: We report two patients with severe/refractory sJIA who underwent successful allo-HSCT and achieved CR. Allo-HSCT is a potential curative option for severe/refractory sJIA. It should be considered only after failure of conventional sJIA treatments and when an HLA-matched donor is available in order to lower transplant-related mortality. The outcomes of reported sJIA patients who received allo-HSCT are encouraging but long-term follow-up data are needed to better characterized the risk-benefit ratio of this procedure.

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Genital graft-versus-host disease (GVHD) after hematopoietic stem cell transplantation (HSCT) is an underdiagnosed manifestation of chronic GVHD. Few articles have been published in pediatric populations, and there are no established guidelines for the management of this condition in children. This study aims to provide a systematic literature review of the published studies and cases of genital (vulvovaginal) GVHD in girls and adolescents post HSCT, with a focus on the time of diagnosis and clinical manifestations. The authors searched for English-language articles published after 1990, which included full patient details. Thirty-two cases of female patients under 20 years of age were identified. The median time of diagnosis was 381 days (IQR: 226-730 days), and 83% of patients developed Grade 3 vulvovaginal GVHD. Based on these observations, an early pediatric gynecologic examination of these patients, soon within the first year after HSCT, could be suggested for early diagnosis, treatment initiation and prevention of long-term complications.

The present report describes a case of Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ALL) with pericardial invasion following bone marrow transplantation. The patient exhibited recurrent pericardial effusion accompanied by wheezing symptoms. Despite undergoing multiple pericardial punctures and drainage procedures, pericardial injections, and systemic treatment, the patient continued to experience recurrent pericardial effusion. Ultimately, the patient underwent whole-heart radiotherapy, resulting in complete resolution of the pericardial effusion. After a follow-up period of 10 months, the pericardial effusion remained well-controlled, and there were no significant impairments in cardiac function. In conclusion, radiotherapy may be considered as a viable treatment option for refractory leukemia cases presenting with pericardial effusion.