Nomogram establishment for short-term survival prediction in ICU patients with aplastic anemia based on the MIMIC-IV database
CONCLUSION: The nomogram model of the short-term survival rate of AA patients was built based on clinical characteristics, and early mechanical ventilation could help improve the short-term survival rate of patients.PMID:38625693 | DOI:10.1080/16078454.2024.2339778 (Source: Hematology)
Source: Hematology - April 16, 2024 Category: Hematology Authors: Yan Tu Jingcheng Zhang Mingzhe Zhao Fang He Source Type: research
Exploration of diagnosis and treatment plans for diffuse panbronchiolitis combined with familial aplastic anemia
Panminerva Med. 2024 Apr 16. doi: 10.23736/S0031-0808.24.05134-6. Online ahead of print.NO ABSTRACTPMID:38625044 | DOI:10.23736/S0031-0808.24.05134-6 (Source: Panminerva Medica)
Source: Panminerva Medica - April 16, 2024 Category: General Medicine Authors: Huiqin He Jiabin Qian Xin Lyu Source Type: research
Nomogram establishment for short-term survival prediction in ICU patients with aplastic anemia based on the MIMIC-IV database
CONCLUSION: The nomogram model of the short-term survival rate of AA patients was built based on clinical characteristics, and early mechanical ventilation could help improve the short-term survival rate of patients.PMID:38625693 | DOI:10.1080/16078454.2024.2339778 (Source: Hematology)
Source: Hematology - April 16, 2024 Category: Hematology Authors: Yan Tu Jingcheng Zhang Mingzhe Zhao Fang He Source Type: research
Exploration of diagnosis and treatment plans for diffuse panbronchiolitis combined with familial aplastic anemia
Panminerva Med. 2024 Apr 16. doi: 10.23736/S0031-0808.24.05134-6. Online ahead of print.NO ABSTRACTPMID:38625044 | DOI:10.23736/S0031-0808.24.05134-6 (Source: Panminerva Medica)
Source: Panminerva Medica - April 16, 2024 Category: General Medicine Authors: Huiqin He Jiabin Qian Xin Lyu Source Type: research
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print.ABSTRACTADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which ar...
Source: European Journal of Medical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Mio Matsumoto Momoko Oyake Tomoyo Itonaga Miwako Maeda Soichi Suenobu Daichi Sato Yoji Sasahara Hiroyuki Mishima Koh-Ichiro Yoshiura Kenji Ihara Source Type: research
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print.ABSTRACTADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which ar...
Source: European Journal of Medical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Mio Matsumoto Momoko Oyake Tomoyo Itonaga Miwako Maeda Soichi Suenobu Daichi Sato Yoji Sasahara Hiroyuki Mishima Koh-Ichiro Yoshiura Kenji Ihara Source Type: research
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print.ABSTRACTADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which ar...
Source: European Journal of Medical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Mio Matsumoto Momoko Oyake Tomoyo Itonaga Miwako Maeda Soichi Suenobu Daichi Sato Yoji Sasahara Hiroyuki Mishima Koh-Ichiro Yoshiura Kenji Ihara Source Type: research
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print.ABSTRACTADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which ar...
Source: European Journal of Medical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Mio Matsumoto Momoko Oyake Tomoyo Itonaga Miwako Maeda Soichi Suenobu Daichi Sato Yoji Sasahara Hiroyuki Mishima Koh-Ichiro Yoshiura Kenji Ihara Source Type: research
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print.ABSTRACTADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which ar...
Source: European Journal of Medical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Mio Matsumoto Momoko Oyake Tomoyo Itonaga Miwako Maeda Soichi Suenobu Daichi Sato Yoji Sasahara Hiroyuki Mishima Koh-Ichiro Yoshiura Kenji Ihara Source Type: research
Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood
Eur J Med Genet. 2024 Apr 15;69:104939. doi: 10.1016/j.ejmg.2024.104939. Online ahead of print.ABSTRACTADH5/ALDH2 deficiency is a rare inherited syndrome characterized by short stature, microcephaly, delayed mental development, and hematopoietic dysfunction and has recently been proposed as a disease paradigm. Acute and severe presentations include aplastic anemia, myelodysplastic syndrome, or leukemia, requiring bone marrow transplantation during childhood. Conversely, non-hematological manifestations may exhibit a prolonged and nonspecific clinical trajectory, with growth failure and developmental delay, most of which ar...
Source: European Journal of Medical Genetics - April 13, 2024 Category: Genetics & Stem Cells Authors: Mio Matsumoto Momoko Oyake Tomoyo Itonaga Miwako Maeda Soichi Suenobu Daichi Sato Yoji Sasahara Hiroyuki Mishima Koh-Ichiro Yoshiura Kenji Ihara Source Type: research
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
