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[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2025
Department of Pediatric Neurology, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Objective: To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously.
Methods: Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed.
Successful treatment of tumor lysis syndrome associated with hepatic artery infusion chemotherapy in a patient with hepatocellular carcinoma: a case report.
J Med Case Rep
December 2024
Liver Cancer Institute, National Clinical Research Center for Interventional Medicine, Zhongshan Hospital, Fudan University, 136 Yi Xue Yuan Road, Shanghai, 200032, People's Republic of China.
Background: Tumor lysis syndrome is a life-threatening complication in the treatment of cancer. However, it rarely occurs in solid tumors, especially in hepatocellular carcinoma.
Case Presentation: We present a 52-year-old male Asian patient with advanced hepatocellular carcinoma treated with hepatic artery infusion chemotherapy that resulted in tumor lysis syndrome.
Effectivity and safety profile of tenapanor, a sodium-hydrogen exchanger isoform 3 inhibitor, as an innovative treatment for hyperphosphatemia in chronic kidney disease: A systematic review of clinical studies.
Nefrologia (Engl Ed)
December 2024
Department of Medical Doctor Study Program, Faculty of Medicine, Hasanuddin University, Makassar City, South Sulawesi Province, Indonesia.
Background: Chronic kidney disease (CKD) is a major global health problem. Hyperphosphatemia is frequent in CKD and a reason for increased morbidity and mortality as it generates hyperparathyroidism, high fibroblast growth factor 23 (FGF23), and hypocalcemia. Available hyperphosphatemia therapies still have limitations, including risk of metal overload, cardiovascular calcification, and systemic adverse effects (AEs).
View Article and Find Full Text PDFIdiopathic hypoparathyroidism presenting as fatigue.
BMJ Case Rep
December 2024
Ophthalmology, LLH Hospital, Abu Dhabi, Abu Dhabi, UAE.
Fatigue is a common symptom encountered in clinical practice, often posing a diagnostic challenge due to its myriad underlying causes. A comprehensive clinical history can serve as a valuable guide in such diagnostic dilemmas. A man in his 30s presented with a history of intermittent fatigue.
View Article and Find Full Text PDFAn activating CaSR variant with biased signaling reveals a critical residue for Gα11 coupling.
J Bone Miner Res
December 2024
Institute of Metabolism and Systems Research (IMSR) and Centre for Diabetes, Endocrinology and Metabolism (CEDAM), University of Birmingham, Birmingham, B15 2TT, United Kingdom.
Autosomal dominant hypocalcemia (ADH) is due to enhanced calcium-dependent signaling caused by heterozygous gain-of-function (GOF) variants in the CASR gene (ADH1) or in the GNA11 gene, encoding Gα11 (ADH2). Both ADH1 and ADH2 are associated with hypocalcemia and normal or inappropriately low levels of circulating PTH. ADH1 patients typically manifest hypercalciuria, while ADH2 is associated with short stature in approximately 42% of cases.
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