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Evaluation of endocrine changes and insulin release in patients with hereditary spherocytosis.
J Paediatr Child Health
December 2024
Department of Physiology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
Aim: To evaluate endocrinological changes and insulin secretion in patients with hereditary spherocytosis (HS).
Methods: The study included 30 patients with HS and 30 healthy control groups who were of similar age and gender. Routine tests, including hemogram, biochemical and hormonal tests were conducted on both patients with HS and the control group.
10-Year Risk of Gallstones in Congenital Red Blood Cell Disorder Patients: A Nationwide Cohort Study.
Am J Hematol
December 2024
Department of Hematology, Odense University Hospital, Odense, Denmark.
Chronic hemolysis potentially elevates the risk of gallstones in several types of congenital red blood cell (RBC) disorders. However, the magnitude of the risk is unknown. We investigate the risk of gallstone disease in congenital RBC disorder patients, compared with general population comparators.
View Article and Find Full Text PDFGallbladder preserving cholelithotomy in children with hereditary spherocytosis complicated by gallstones: a single-center retrospective study.
Front Pediatr
November 2024
Department of Pediatric Surgery, Anhui Provincial Children's Hospital, Hefei, China.
Background: Gallstones are among the most common complications of hereditary spherocytosis (HS). In previous treatments, gallbladder-preserving cholelithotomy (GPC) has remained a subject of significant debate due primarily to potential risks of stone recurrence. However, past studies have often overlooked the impact of specific disease conditions on GPC.
View Article and Find Full Text PDFIron overload in hereditary spherocytosis: Are genetic factors the cause?
Br J Haematol
December 2024
Department of Biological Haematology, Montpellier University Hospital, Montpellier, France.
Non-transfusional iron overload (IOL) in hereditary spherocytosis (HS) is poorly documented compared with other red blood cell disorders. We studied 13 HS adults with confirmed IOL to identify potential genetic factors. Using a next-generation sequencing panel of 46 genes related to HS, anaemia and iron metabolism, we found no association between IOL and the genes involved in HS nor the HFE:p.
View Article and Find Full Text PDFComplications of delayed diagnosis and challenges: successfully managed SPTB gene variant hereditary spherocytosis with hepatocellular jaundice-a case report.
J Med Case Rep
December 2024
Department of Radiology, Addis Ababa University College of Health Science, Addis Ababa, Ethiopia.
Background: Hereditary spherocytosis is a rare genetic disorder of the red blood cell membrane that is characterized by anemia, jaundice, and splenomegaly; however, in the absence of family history and with unusual clinical presentation, the diagnosis might not be made until later in life.
Case Presentation: Here, we present a challenging case of genetically proven hereditary spherocytosis that involves the SPTB gene in a 23-year-old female patient from Ethiopia who had repeated medical visits for episodic jaundice and hepatosplenomegaly, with unusual features of conjugated hyperbilirubinemia, pancytopenia, normal reticulocyte count, and lack of family history, where the delay in diagnosis led to several complications. The patient was successfully managed with simultaneous splenectomy and cholecystectomy.
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