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Congenital Methemoglobinemia: A Cause of Polycythemia.
Indian J Pediatr
January 2025
Department of Clinical Hematology, SKIMS, Srinagar, Jammu and Kashmir, India.
Dyskinetic Movement Disorder in Congenital Methemoglobinemia Type II.
Mov Disord Clin Pract
November 2024
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Management of Congenital Methemoglobinemia in the Perioperative Setting: A Case Report and Review of Current Literature.
J Blood Med
August 2024
Department of Anesthesiology, Critical Care and Perioperative MedicineHamad Medical Corporation, Doha, Qatar.
Article Synopsis
- - Methemoglobinemia is a condition where hemoglobin is oxidized, preventing it from binding oxygen, leading to symptoms like cyanosis and potential heart failure; it can be congenital or acquired, with the congenital form being rare.
- - A case study of a 22-year-old man with congenital methemoglobinemia demonstrated the need for careful perioperative management during dental surgery, including avoiding certain anesthetics and ensuring appropriate oxygenation levels.
- - Effective management of congenital methemoglobinemia during surgery requires preoperative assessment, multidisciplinary care, avoidance of oxidizing agents, and strategies to maintain the patient's oxygenation and cardiovascular stability.
A novel stoploss mutation CYB5R3 c.906A>G(p.*302Trpext*42) involved in the pathogenesis of hereditary methemoglobinemia.
Clin Chim Acta
January 2025
Department of Traditional Chinese Medicine, Shengli Clinical Medical College of Fujian Medical University, Fujian Provincial Hospital, Fuzhou 350001, China; Department of Hematology, Fujian Provincial Hospital, Fuzhou 350001, China. Electronic address:
Recessive congenital methemoglobinemia (RCM) is a hereditary autosomal disorder with an extremely low incidence rate. Here, we report a case of methemoglobinemia type I in a patient with congenital persistent cyanosis. The condition was attributed to a novel compound heterozygous mutation in CYB5R3, characterized by elevated methemoglobin levels (13.
View Article and Find Full Text PDFUnmasking Congenital Methemoglobinemia: A Novel Mutation Discovered in an Adult with Symptomatic Polycythemia.
Turk J Haematol
December 2024
All India Institute of Medical Sciences, Department of Hematology, New Delhi, India
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