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[Next generation sequencing in pediatric bone marrow failure: a valuable tool for accurate diagnosis].
Andes Pediatr
October 2024
Facultad de Ciencias de la Salud, Universidad Icesi, Cali, Colombia.
Unlabelled: Inherited Bone Marrow Failure syndromes account for approximately 25% of cases of aplastic anemia in pediatric patients. Next-generation sequencing (NGS) technologies have allowed the diagnosis of an increasing number of hereditary causes of bone marrow failure.
Objective: To determine the diagnostic yield and clinical concordance of NGS in the diagnosis of a cohort of pediatric patients with bone marrow failure.
Metabolomics Analysis Using Chromatography-Mass Spectrometry to Investigate the Mechanism of Cyclosporine in the Treatment of Aplastic Anemia.
Rapid Commun Mass Spectrom
March 2025
Department of Pharmacy, The Affiliated Yixing Clinical School of Medical School of Yangzhou University, Yixing, China.
Objective: The aim of this study was to use metabolomics techniques to detect differential metabolites in the plasma of patients with aplastic anemia (AA). We explore important biomarkers and potential pathways in cyclosporine A (CsA) in the treatment of AA.
Methods: Plasma samples from five patients with AA before and after treatment and plasma samples from five healthy people were collected and analyzed by liquid chromatography-mass spectrometry and gas chromatography-mass spectrometry.
Successful Antibiotic Treatment of Phlegmonous Gastritis Following Allogeneic Hematopoietic Stem Cell Transplantation.
Intern Med
January 2025
Division of Hematology, Department of Medicine, Keio University School of Medicine, Japan.
Phlegmonous gastritis (PG) is a rare, life-threatening bacterial infection characterized by thickening of the gastric wall. We report a case of PG in a 17-year-old male following allogeneic hematopoietic stem cell transplantation for severe aplastic anemia. Seven months after transplantation, the patient presented with severe abdominal pain, fever, and significant gastric wall thickening on CT.
View Article and Find Full Text PDFAll-in-one gene therapy alternative for DBAS.
Cell Stem Cell
January 2025
Division of Hematopoietic Innovative Therapies, CIEMAT, Madrid, Spain; Instituto Nacional de Investigación Biomédica en Enfermedades Raras (CIBERER), Madrid, Spain; Advanced Therapies Unit, IIS-Fundación Jimenez Diaz (IIS-FJD, UAM), 28040 Madrid, Spain. Electronic address:
Diamond-Blackfan anemia syndrome is a ribosomopathy classified among the bone marrow failure syndromes. This disease exhibits significant heterogeneity, with up to 24 genetic variants identified to date. Voit et al.
View Article and Find Full Text PDFInvestigating the Relationship Between Anti-seizure Medications and Bleeding Disorders: A Comprehensive Review of the Current Literature.
Drugs Real World Outcomes
January 2025
Kabul University of Medical Sciences, Kabul, Afghanistan.
Anti-seizure medications (ASMs) are specific types of anticonvulsants used to treat epileptic seizures. However, several studies have shown an association between ASMs and an increased risk of hematological disorders, such as thrombocytopenia, aplastic anemia, and platelet function disorders leading to prolonged bleeding times. This review explores the existing literature on this topic, investigating a wide variety of ASMs, ranging from first-generation medications to newer ones.
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