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10-Year Risk of Gallstones in Congenital Red Blood Cell Disorder Patients: A Nationwide Cohort Study.
Am J Hematol
February 2025
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 PDFTrypsin in pancreatitis: The culprit, a mediator, or epiphenomenon?
World J Gastroenterol
November 2024
Department of Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90073, United States.
Pancreatitis is a common, life-threatening inflammatory disease of the exocrine pancreas. Its pathogenesis remains obscure, and no specific or effective treatment is available. Gallstones and alcohol excess are major etiologies of pancreatitis; in a small portion of patients the disease is hereditary.
View Article and Find Full Text PDFIdentification of novel variants in hereditary spherocytosis patients by whole-exome sequencing.
Clin Chim Acta
January 2025
State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China; Tianjin Institutes of Health Science, Tianjin, China. Electronic address:
Article Synopsis
- Hereditary spherocytosis (HS) is an inherited form of hemolytic anemia caused by defects in erythrocyte membrane proteins, leading to symptoms like spherocytes in blood, anemia, enlarged spleen, jaundice, and gallstones.
- Genetic testing has become essential for diagnosing HS, with pathogenic variations found in five specific genes (ANK1, SPTA1, SPTB, SLC4A1, EPB42).
- In a study of 41 patients, various pathogenic mutations were identified, with significant differences in platelet and LDH levels between patients with different gene mutations, particularly lower levels in those with SPTB and SLC4A1 mutations compared to ANK1
[Recurrent hemolysis and iron overload of unclear origin].
Inn Med (Heidelb)
October 2024
Medizinische Klinik und Poliklinik 3 für Hämatologie und Onkologie, Tagesklinik Campus Innenstadt, Ludwig-Maximilians-Universität München, Ziemssenstr. 1, 80336, München, Deutschland.
The case of a 33-year-old male with recurrent icterus and hemolysis since childhood that was long mistaken for Gilbert disease is presented. Subsequently, the patient also developed splenomegaly and gallstones together with iron overload. Genetic testing revealed the diagnosis of hereditary xerocytosis, which is an erythrocyte membrane disorder causing recurrent hemolysis.
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