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Uncovering Deletion/Insertion Mutations in Veno-Occlusive Disease with Immunodeficiency Syndrome in An Iranian Family: A Case Report.
Cell J
October 2024
Department of Genetics, Faculty of Advanced Science and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.
Article Synopsis
- - Veno-occlusive disease with immunodeficiency (VODI) syndrome is a rare genetic disorder with immune system issues and high mortality, linked to mutations on chromosome 2q37.1, particularly concerning tuberculosis.
- - A case study of a three-year-old girl with suspected immunodeficiency utilized whole-exome sequencing (WES) to find and confirm pathogenic mutations, revealing a novel deletion-insertion mutation affecting the SP110 protein.
- - This research aims to improve the diagnosis of VODI syndrome by identifying various mutations in the SP110 gene, which could lead to targeted therapies and better treatment options.
Pulmonary Capillary Hemangiomatosis as a Rare Underlying Cause of Primary Pulmonary Hypertension: A Case Report in an Adolescent.
Iran J Med Sci
June 2024
Shaheed Rajaie Cardiovascular Medical and Research Center, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
Despite its rarity, pulmonary capillary hemangiomatosis (PCH) presents a significant diagnostic challenge. Due to its similarity to other pulmonary vascular diseases, such as pulmonary veno-occlusive disease, it is characterized by abnormal pulmonary capillary proliferation, which is a rare cause of primary pulmonary hypertension. This case was the first reported instance of PCH in Shahid Rajaee Heart Hospital in Tehran, Iran, in 2023, which was confirmed by genetic testing.
View Article and Find Full Text PDFPediatric Allogeneic Hematopoietic Stem Cell Transplantation Including Matched Sibling and Alternate Donor Transplants - Adaptations and Outcomes From a Tertiary Care Government Institute in India.
Indian Pediatr
June 2024
Division of Pediatric Oncology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Objective: To report the outcomes of pediatric patients who underwent allogeneic hematopoietic stem cell transplant (HSCT) in single rooms without high-efficiency particulate air (HEPA) filters, laminar air flow or positive pressure at our centre and discuss the adaptations of a high-volume government centre.
Methods: Data of the first 20 children who underwent allogeneic HSCT between May 2019 and July 2023 in adaptive settings were reviewed retrospectively. All patients were managed in in single rooms without HEPA filters, positive pressure or laminar air flow.
Functional validation of EIF2AK4 (GCN2) missense variants associated with pulmonary arterial hypertension.
Hum Mol Genet
August 2024
Cambridge Institute for Medical Research (CIMR), University of Cambridge, Keith Peters Building, Biomedical Campus, Hills Rd, Cambridge CB2 0XY, United Kingdom.
Article Synopsis
- Pulmonary arterial hypertension (PAH) is linked to genetic factors, particularly mutations in the EIF2AK4 gene, which can lead to rare subtypes like pulmonary veno-occlusive disease and pulmonary capillary haemangiomatosis.
- Some EIF2AK4 variants found in classical PAH patients have uncertain significance, prompting a need for further study to understand their impact on the disease.
- Researchers applied both computational and experimental methods to assess sixteen EIF2AK4 variants, discovering that many did not impair kinase function and classifying dysfunctional variants into groups that could potentially be targeted for treatment with specific inhibitors.
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