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[Autologous Stem-Cell Transplantation without Transfusion Support in Jehovah's Witness Patients. A case series].
Rev Med Chil
June 2024
Servicio de Medicina física y Rehabilitación, Hospital del Salvador, Santiago, Chile.
Article Synopsis
- Autologous Stem-Cell Transplantation (ASTC) is effective for treating certain blood cancers but can cause severe side effects due to intense chemotherapy.
- The study presents a protocol for performing ASTC without transfusions, catering to patients who decline blood products, such as Jehovah's Witnesses (JW).
- In a small trial with four patients (two with multiple myeloma and two with lymphomas), no serious complications occurred, and all patients remained alive and well at the time of reporting, showcasing the viability of the transfusion-free approach.
Non-HFE Hemochromatosis in the Context of β-Thalassemia Trait: A Case Study on Iron Overload Dysregulation.
Cureus
November 2024
Internal Medicine, Creighton University School of Medicine, St. Joseph's Hospital and Medical Center, Phoenix, USA.
Thalassemia and hemochromatosis are two distinct conditions that involve dysregulation of iron metabolism, though their origin, clinical presentations, and treatments differ. This case represents a patient with incidentally discovered microcytic anemia due to β-thalassemia trait and non- hemochromatosis. It discusses the potential synergistic effect of these two diseases on iron overload and highlights the need for further testing to determine hereditary versus secondary causes of hemochromatosis.
View Article and Find Full Text PDFA Distinctive Type of Mosaic Variegated Aneuploidy: Case Report and Review of the Literature.
Am J Med Genet A
February 2025
Genetica Umana e Medica, Dipartimento di Medicina e Chirurgia, Università dell'Insubria, Varese, Italy.
Article Synopsis
- Mosaic variegated aneuploidy (MVA) is a rare genetic disorder characterized by aneuploidies, mainly involving multiple chromosomes, leading to a variety of health issues like growth delay and congenital abnormalities.
- A case study of a patient revealed a unique form of MVA with specific trisomies (mainly involving chromosomes 18 and 19) that caused intermittent mild neutropenia without severe symptoms over more than 20 years.
- Genetic testing for known mutations related to MVA, as well as whole exome analysis, failed to identify any causative mutations, highlighting the complexity and uniqueness of this patient's condition.
How We Treat Hemolytic Anemia Due to Pyruvate Kinase Deficiency.
Hematol Rep
August 2024
Department of Hematology and Oncology, Maroone Cancer Center, Cleveland Clinic Florida, Weston, FL 33331, USA.
Article Synopsis
- Pyruvate kinase (PK) deficiency is an inherited condition causing chronic hemolytic anemia, with symptoms like fatigue, jaundice, and gallstones, typically managed with transfusions and other supportive therapies.
- Mitapivat is a newly approved oral medication that activates RBC PK enzymes and has shown positive results in some patients by improving hemoglobin levels and reducing transfusion needs, though not all respond to it.
- The response to mitapivat varies based on individual genetic factors, suggesting that both clinical symptoms and genetic background should be considered before starting treatment.
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia.
Am J Hum Genet
July 2024
Division of Psychological Medicine and Clinical Neurosciences, UK Dementia Research Institute, School of Medicine, Cardiff University, Cardiff, UK. Electronic address:
Article Synopsis
- * A study analyzed 4,685 sporadic FTD cases and found significant genetic variants at the MAPT and APOE loci that increase the risk for the disease, indicating potential genetic overlap with other neurodegenerative diseases.
- * The genetic risk factors appear to vary by population, with MAPT and APOE associations predominantly found in Central/Nordic and Mediterranean Europeans, suggesting a need for further research into these population-specific features for better understanding of sporadic FTD.
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