Donor-type bone marrow aplasia following hematopoietic stem cell transplantation in a child with a novel < em > SAMD9L < /em > variant
We report a case of a previously healthy, 3-year-old boy with no dysmorphology, who presented with severe aplastic anemia and a novel variant in the SAMD9L gene. His father, elder brother and sister who harbored the same variant were completely healthy. In the absence of a matched unrelated donor, he underwent a stem cell transplant from his sister, a 10/10 match. Almost 2 years later he developed donor type aplasia and succumbed to an invasive fungal infection after a failed haplograft from his mother. This case highlights the pathogenicity of this previously undescribed germline variation of uncertain significance in the...
Source: Hematology - April 10, 2024 Category: Hematology Authors: Manujasri Wimalachandra Ruwangi Dissanayake Revathi Raj Austin Kulasekeraraj Sujith Samarasinghe Lallindra Gooneratne Source Type: research
Addition of ruxolitinib to standard graft-versus-host disease prophylaxis for allogeneic stem cell transplantation in aplastic anemia patients
Bone Marrow Transplant. 2024 Apr 5. doi: 10.1038/s41409-024-02266-7. Online ahead of print.ABSTRACTAllogeneic hematopoietic stem cell transplantation (allo-HSCT) offers rapid hematopoietic and immune reconstitution for aplastic anemia (AA). As a non-malignant disorder, attenuation of GVHD remains a clinical priority in AA patients. Our study sought to investigate the safety and efficacy of the prophylactic use of ruxolitinib in allogeneic HSCT. A total of 35 AA patients were retrospectively consecutively treated with allo-HSCT whereby ruxolitinib was added to the standard GVHD prophylaxis regimen (rux group). The addition ...
Source: Cancer Control - April 5, 2024 Category: Cancer & Oncology Authors: Xiaoyu Zhang Xiaoli Zhao Shulian Chen Mengze Hao Lining Zhang Ming Gong Yuanyuan Shi Jialin Wei Ping Zhang Sizhou Feng Yi He Erlie Jiang Mingzhe Han Source Type: research
Addition of ruxolitinib to standard graft-versus-host disease prophylaxis for allogeneic stem cell transplantation in aplastic anemia patients
Bone Marrow Transplantation, Published online: 05 April 2024; doi:10.1038/s41409-024-02266-7Addition of ruxolitinib to standard graft-versus-host disease prophylaxis for allogeneic stem cell transplantation in aplastic anemia patients (Source: Bone Marrow Transplantation)
Source: Bone Marrow Transplantation - April 5, 2024 Category: Hematology Authors: Xiaoyu Zhang Xiaoli Zhao Shulian Chen Mengze Hao Lining Zhang Ming Gong Yuanyuan Shi Jialin Wei Ping Zhang Sizhou Feng Yi He Erlie Jiang Mingzhe Han Source Type: research
Quality of life after immune suppressive therapy in aplastic anemia
In conclusion, patients with AA continue to experience psycholo gical and physical effects despite successful IST. (Source: Annals of Hematology)
Source: Annals of Hematology - April 5, 2024 Category: Hematology Source Type: research
Efficacy and safety of immunosuppressive therapy combined with eltrombopag for severe aplastic anemia: a systematic review and meta-analysis
ConclusionEPAG added to IST enables patients to achieve earlier and faster hematologic responses with a higher rate of complete response. Although it had no effect on overall EFSR, it improved OSR and did not increase the incidence of clonal evolution and other adverse events. (Source: Systematic Reviews)
Source: Systematic Reviews - April 4, 2024 Category: International Medicine & Public Health Source Type: research
A retrospective study of ovarian tissue cryopreservation in female patients with hematological diseases for fertility preservation
ConclusionsOvarian tissue cryopreservation has a promising future in fertility protection in patients with hematological diseases. However, patients with hematological malignancies often have received gonadotoxic therapy before OTC, which may be accompanied by myelosuppression while patients with non-malignant hematological diseases often present with severe hemocytopenia. So perioperative complete blood count of patients should be paid attention to. There was no significant difference in the WBC count and hemoglobin concentration in patients with hematological diseases before and after OTC surgery, and the platelet count ...
Source: Archives of Gynecology and Obstetrics - April 4, 2024 Category: OBGYN Source Type: research
Successful Treatment of Severe Aplastic Anemia with Hematopoietic Stem Cell Transplantation in the Setting of Active Mucormycosis
AbstractSevere aplastic anemia (SAA) is a life-threatening hematological disease characterized by the suppression of the bone marrow. Patients with SAA are predisposed to recurrent bacterial infections and invasive fungal infections (IFI) due to profound and persistent neutropenia. Mucorales are the second most common cause of IFI encountered in SAA. Here we present a pediatric case of SAA with active mucormycosis infection of the paranasal sinuses. In the first step, surgical debridement was performed and combined antifungal therapy (liposomal amphotericin B, posaconazole, caspofungin) was started. Due to severe neutropen...
Source: Indian Journal of Otolaryngology and Head and Neck Surgery - April 4, 2024 Category: ENT & OMF Source Type: research
A retrospective study of ovarian tissue cryopreservation in female patients with hematological diseases for fertility preservation
ConclusionsOvarian tissue cryopreservation has a promising future in fertility protection in patients with hematological diseases. However, patients with hematological malignancies often have received gonadotoxic therapy before OTC, which may be accompanied by myelosuppression while patients with non-malignant hematological diseases often present with severe hemocytopenia. So perioperative complete blood count of patients should be paid attention to. There was no significant difference in the WBC count and hemoglobin concentration in patients with hematological diseases before and after OTC surgery, and the platelet count ...
Source: Archives of Gynecology and Obstetrics - April 4, 2024 Category: OBGYN Source Type: research
Pancytopenia with aplastic anemia in systemic lupus erythematosus: case series and literature review
We report two cases of SLE patients who presented with pancytopenia, with bone marrow biopsy confirmed AA. One case was treated with cyclophosphamide but unfortunately succumbed to Acute Respiratory Distress Syndrome (ARDS), while the other case was managed with rituximab with a good response. Interestingly, both patients were on azathioprine before the diagnosis of AA. A comprehensive search for reported cases of AA in PubMed, Scopus, and the Directory of Open Access Journals databases was performed to enhance the understanding of the diagnostic and management challenges associated with AA in SLE, facilitating ongoing exp...
Source: Rheumatology International - April 2, 2024 Category: Rheumatology Source Type: research
Safety and efficacy of eltrombopag in patients with aplastic anemia: a systematic review and meta-analysis of randomized controlled trials
CONCLUSION: Compared to immunosuppressive therapy alone, eltrombopag combined with immunosuppressive therapy showed significant improvements in 6-month CR and 6-month OR. However, it also resulted in increased pigment deposition and abnormal liver function in terms of safety.PMID:38553907 | DOI:10.1080/16078454.2024.2335419 (Source: Hematology)
Source: Hematology - March 30, 2024 Category: Hematology Authors: Huaipeng Guo Cangchun Liu Lei Kang Cong Liu Ying Liu Source Type: research
Retracted: Bone Marrow Plasma Cytokine Signature Profiles in Severe Aplastic Anemia
Biomed Res Int. 2024 Mar 20;2024:9753242. doi: 10.1155/2024/9753242. eCollection 2024.ABSTRACT[This retracts the article DOI: 10.1155/2020/8789275.].PMID:38550182 | PMC:PMC10973222 | DOI:10.1155/2024/9753242 (Source: Biomed Res)
Source: Biomed Res - March 29, 2024 Category: Research Authors: BioMed Research International Source Type: research
