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Unveiling a pathogenic gene variant in a Mexican family with Fanconi anemia through next‑generation sequencing.
Exp Ther Med
March 2025
Human Genetics Institute 'Dr Enrique Corona Rivera', Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco 44340, México.
Fanconi anemia (FA) is the most common hereditary bone marrow failure syndrome, with an incidence of 1 in 5,000,000. This disease is caused by an alteration in one of the 23 genes associated with the FA/BRCA DNA repair pathway, which is responsible for repairing interstrand bridges generated during homologous recombination. FA has been associated with a predisposition to other types of neoplasm.
View Article and Find Full Text PDFBone marrow metastasis of ovarian cancer: A two‑center retrospective study and literature review.
Mol Clin Oncol
March 2025
Department of Obstetrics and Gynecology, Faculty of Medicine, Oita University, Yufu, Oita 8795593, Japan.
Bone marrow metastasis (BMM) causes pancytopenia and disseminated intravascular coagulation (DIC), resulting in rapid mortality. The incidence of this disease is likely underestimated, with confirmed BMM occurring at approximately twice the rates expected clinically. The present study describes two detailed cases and includes a literature review of BMM caused by ovarian cancer.
View Article and Find Full Text PDFA non-conditioned bone marrow transplantation mouse model to study clonal hematopoiesis and myeloid malignancies.
Exp Hematol Oncol
January 2025
Department of Hematology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Clonal hematopoiesis of indeterminate potential (CHIP) is a condition where blood or bone marrow cells carry mutations associated with hematological malignancies. Individuals with CHIP have an increased risk of developing hematological malignancies, atherosclerotic cardiovascular disease, and all-cause mortality. Bone marrow transplantation (BMT) of cells carrying CHIP mutations into irradiated mice are useful procedures to investigate the dynamics of clonal expansion and potential therapeutic strategies, but myeloablative conditioning can induce confounding effects.
View Article and Find Full Text PDFAirway morphology, hyoid position, and serum inflammatory markers of obstructive sleep apnea in children treated with modified twin-block appliances.
BMC Oral Health
January 2025
The First Affiliated Hospital of Chongqing Medical University, No. 1 Youyi Road, Yuzhong District, Chongqing, 400016, P.R. China.
Objective: To investigate the effects of modified twin-block appliances (MTBA) on obstructive sleep apnea (OSA) and mandibular retrognathia and the changes in the upper airway, hyoid bone position, and hypoxia-related inflammatory marker levels in children with OSA.
Methods: This study included children with OSA and mandibular retrognathia and those with class I without mandibular retrognathia (n = 35 each). The experimental group comprised children with OSA and mandibular retrognathia managed using MTBA.
Denosumab usage in atypical cemento-osseous dysplasia involving the entire mandible: a case report.
BMC Oral Health
January 2025
Mackay Memorial Hospital, Taipei, Taiwan.
Background: Cemento-osseous dysplasia (COD) is the most common apical radiopaque lesion that develops in the tooth-bearing area. However, large, destructive lesions are rare. Herein, we report a case in which COD extended to bilateral condyles, affecting the entire mandible, and was managed with denosumab rather than surgical resection.
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