Wilson's disease is an inherited disorder of copper transport in the organism, transmitted in autosomal recessive fashion. It is caused by dysfunction in homologous copper-transporting adenosine triphosphatases. The main clinical symptoms are usually due to hepatic (42%) or/and neurologic (34%) involvement, which is the reason for the name hepatolenticular degeneration. Described in this report are four cases--the first three demonstrate an unusual form of manifestation of Wilson's disease in clinical practice--glucose-6-phosphate dehydrogenase deficiency hemolytic anemia. The fourth case concerns acute intravascular hemolysis that was provoked by the disease and presented without erythrocyte enzyme disturbances. Hemolytic anemia is a recognized but rare (10-15%) complication of the disease. Most often Coombs' negative acute intravascular hemolysis occurs as a consequence of oxidative damage to the erythrocytes by the higher copper concentration. A literature review with discussion of the possible mechanisms for the development of this phenomenon is done.
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Mediterr J Rheumatol
December 2024
First Department of Internal Medicine.
Introduction: Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease presenting with remission and flares. Relapses may be triggered by various factors, with infections being one of the most common. The following case is the first clostridium difficile infection (CDI)-induced SLE flare that resulted in involvement of organs not previously affected in patient's history before, such as lupus nephritis.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
Department of Intensive Care Medicine, Army Medical Center of PLA, No. 10 Changjiang Road, Yuzhong District, Chongqing, 400010, People's Republic of China.
Background: Pregnancy-associated atypical hemolytic uremic syndrome (aHUS) is a form of thrombotic microangiopathy (TMA) caused by uncontrolled activation of the complement system during pregnancy or the postpartum period. In the intensive care unit, aHUS must be differentiated from sepsis-related multiple organ dysfunction, thrombotic thrombocytopenic purpura (TTP), hemolysis, elevated liver enzymes, and low platelet (HELLP) syndrome. Early recognition of aHUS is critical for effective treatment and improved prognosis.
View Article and Find Full Text PDFBMC Med Imaging
January 2025
Department of Radiology, Shenzhen Children's Hospital, Shantou University Medical College, 7019 Yitian Road, Futian District, Shenzhen, 518038, China.
Background: Beta thalassemia major (β-TM) is a severe genetic anemia with considerable phenotypic heterogeneity. This study investigated whether genotype correlates with distinct myocardial iron overload patterns, assessed by cardiovascular magnetic resonance (CMR) T2* values.
Methods: CMR data for cardiac iron deposition evaluation, which recruited pediatric participants between January 2021 and December 2024, were analyzed with CVI42.
South Med J
February 2025
the Department of Public Health Sciences.
Objectives: Sickle cell disease (SCD), which disproportionately affects minorities, increases complications during pregnancy. Severe maternal mortality is increased in women with SCD, including morbidity related to the disease and other nondisease-related complications. It also can have devastating complications for fetuses, with increases in premature birth and low birth weight.
View Article and Find Full Text PDFHematology
December 2025
Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, People's Republic of China.
Objective: To evaluate the short-term efficacy and safety of eculizumab for the treatment of paroxysmal nocturnal hemoglobinuria (PNH) in China.
Method: Data were retrospectively collected from patients with PNH who received at least 3 months of full-dose eculizumab. Changes in clinical and laboratory indicators after 1, 3, and 6 months of eculizumab therapy and at the end of follow-up were documented.
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