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http://dx.doi.org/10.5847/wjem.j.1920-8642.2025.060 | DOI Listing |
Rev Med Interne
September 2025
Service d'hématologie biologique, CHU d'Amiens-Picardie, Amiens, France; HEMATIM UR4666, université Picardie Jules-Verne, Amiens, France.
The diagnosis of hemolysis is still based on straightforward biochemical parameters: haptoglobin (the most sensitive), lactate dehydrogenase (LDH), and unconjugated bilirubin. Anemia is not always present. Reticulocyte counts typically exceed 120×10/L, except in cases of associated vitamin deficiency or during the very early phase of acute hemolysis.
View Article and Find Full Text PDFCell Signal
September 2025
Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, No. 218 Jixi Road, Hefei 230022, Anhui, China; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), No. 81 Meishan Road, Hefei 230032, Anhui, China; Engin
Leber's hereditary optic neuropathy (LHON), a mitochondrial disorder marked by central vision loss, exhibits incomplete penetrance and male predominance. Since there are no adequate models for understanding the rapid vision loss associated with LHON, we generated induced pluripotent stem cells (iPSCs) from LHON patients carrying the pathogenic m.3635G > A mutation and differentiated them into retinal pigment epithelium (RPE) cells.
View Article and Find Full Text PDFNeuro Endocrinol Lett
September 2025
Department of Radiology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, China.
Background: Pheochromocytomas and paragangliomas (PPGLs) are rare catecholamine-secreting neuroendocrine tumors originating from the embryonic neural crest. Approximately 30% of PPGLs are hereditary and are frequently associated with genetic syndromes, including neurofibromatosis type 1 (NF1). Composite PPGLs, which include components of both PPGLs and related tumors such as ganglioneuromas, are extremely rare in NF1 patients.
View Article and Find Full Text PDFBrain
September 2025
Departamento de Fisiología, Facultad de Medicina, Universidad de Granada, 18016 Granada, Spain.
Primary coenzyme Q (CoQ) deficiency is a mitochondrial disorder with variable clinical presentation and limited response to standard CoQ10 supplementation. Recent studies suggest that 4-hydroxybenzoic acid (4-HBA), a biosynthetic precursor of CoQ, may serve as a substrate enhancement treatment in cases caused by pathogenic variants in COQ2, a gene encoding a key enzyme in CoQ biosynthesis. However, it remains unclear whether 4-HBA is required throughout life to maintain health, whether it offers advantages over CoQ10 treatment, and whether these findings are translatable to humans.
View Article and Find Full Text PDFClin Appl Thromb Hemost
September 2025
Pediatric Hematology Laboratory, Division of Hematology/Oncology, Department of Pediatrics, The Seventh Affiliated Hospital of Sun Yat-Sen University, Shenzhen, Guangdong, China.
Hemophilia, an X-linked monogenic disorder, arises from mutations in the or genes, which encode clotting factor VIII (FVIII) or clotting factor IX (FIX), respectively. As a prominent hereditary coagulation disorder, hemophilia is clinically manifested by spontaneous hemorrhagic episodes. Severe cases may progress to complications such as stroke and arthropathy, significantly compromising patients' quality of life.
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