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Major ABO Incompatibility in Non-Myeloablative Hematopoietic Stem Cell Transplant for Sickle Cell Disease-Not an Insurmountable Obstacle.
Pediatr Blood Cancer
January 2025
Blood and Marrow Transplant/Cellular Therapy Program, Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.
With advances in conditioning strategies and graft-versus-host disease (GvHD) prevention, hematopoietic stem cell transplantation (HSCT) is a safe, curative treatment option for pediatric patients with sickle cell disease (SCD). However, donor options have been limited in non-myeloablative matched sibling donor (MSD) setting by excluding recipients with major ABO blood group incompatible donors due to concern of the risk of significant complications such as pure red cell aplasia (PRCA). We present three cases of successful HSCT with major ABO incompatibility with their donors, and discuss strategies to safely expand the donor pool to include these donors.
View Article and Find Full Text PDFIdentification of the novel BRCA1 c.2463_2464delTA mutation in two high grade serous ovarian cancer sisters and potential dosage effects implications: a case report.
Mol Biol Rep
January 2025
Department of Clinical Pathology, San Giovanni Addolorata Hospital, Rome, Italy.
Background: Ovarian Cancer is one of the leading causes of cancer death among women worldwide and the therapeutic landscape to treat it is constantly evolving. One of the major points of decision for the treatment choice is the presence of some genomic alterations that could confer sensitivity to the new available therapies including inhibitors of poly (ADP-ribose) polymerase (PARPi) with BRCA1 and 2 genes playing the most important role.
Methods And Results: We performed the search for any somatic and/or germline alteration in patient's samples by next generation sequencing (NGS).
Mouse strain-specific responses along the gut-brain axis upon fecal microbiota transplantation from children with autism.
Gut Microbes
December 2025
Université Paris-Saclay, INRAE, AgroParisTech, Micalis Institute, Jouy-en-Josas, France.
Several factors are linked to the pathophysiology of autism spectrum disorders (ASD); however, the molecular mechanisms of the condition remain unknown. As intestinal problems and gut microbiota dysbiosis are associated with ASD development and severity, recent studies have focused on elucidating the microbiota-gut-brain axis' involvement. This study aims to explore mechanisms through which gut microbiota might influence ASD.
View Article and Find Full Text PDF[Mitoxantrone hydrochloride liposome combined with cytarabine for treating pediatric acute myeloid leukemia with RUNX1∷MTG16 fusion gene: a case report and literature review].
Zhonghua Xue Ye Xue Za Zhi
December 2024
Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences, State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Tianjin 300020, China Tianjin Institutes of Health Science, Tianjin 301600, China.
This case report presents a patient with pediatric acute myeloid leukemia (AML) with RUNX1∷MTG16, admitted to the Blood Disease Hospital of the Chinese Academy of Medical Sciences in October 2023. He was 13 years old, with a chief complaint of fatigue for 20 days. Bone marrow smear revealed 17.
View Article and Find Full Text PDFExtreme Phenotypic Variation in Siblings with Identical Homozygous Mutations Causing ADA2 Deficiency: A Case Series.
Turk J Haematol
January 2025
Hacettepe University, Faculty of Medicine, Department of Pediatric Hematology, Ankara, Türkiye.
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