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We report a case of 2,8-dihydroxyadenine (DHA) urolithiasis in a 65-year-old male. He initially visited another institution because right hydronephrosis was revealed in a medical checkup. Computed tomography demonstrated radiolucent right renal stones. We performed percutaneous nephrolithotripsy and flexible transurethral lithotripsy and removed the stones successfully. An analysis of the stone fragments revealed 2,8-DHA urolithiasis. 2,8-DHA stones are relatively rare and caused by adenine phosphoribosyltransferase deficiency.
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http://dx.doi.org/10.14989/ActaUrolJap_67_9_419 | DOI Listing |
Ophthalmic Genet
March 2025
Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Introduction: In X-linked retinoschisis (XLRS), the RS1 pathogenic variant and the patient's age might be the most important determinants of the XLRS phenotype. In this case report, we present fraternal twins with the same RS1 pathogenic mutation who were examined at the same age yet exhibited significantly different phenotypes.
Methods: This is a retrospective case report.
Ann Ital Chir
March 2025
Breast Surgery Department, General Surgery Center, First Hospital of Jilin University, 130021 Changchun, Jilin, China.
Desmoid-type fibromatosis (DTF) is a rare and locally aggressive benign tumor affecting the breasts. It is characterized by infiltrative growth and local recurrence, though it cannot metastasize. We present the case of a woman in her early 20s diagnosed with a palpable mass within her right breast.
View Article and Find Full Text PDFAnn Ital Chir
March 2025
Department of Medical, Surgical, Neurologic, Metabolic and Ageing Sciences, Unit of Colorectal Surgery, University of Campania "Luigi Vanvitelli", 80138 Naples, Italy.
Aim: Acute myocardial infarction in pregnancy (pAMI) is a rare event that is often caused by non-classical factors rather than atherosclerosis. The management of such complications requires a multidisciplinary team, and it is important to bring together the specialties involved to ensure that these teams are coordinated and ready to respond. The management of pAMI poses unique challenges because it requires consideration of both maternal and fetal well-being.
View Article and Find Full Text PDFAnn Ital Chir
March 2025
The Fourth School of Clinical Medicine, Zhejiang Chinese Medical University, 310000 Hangzhou, Zhejiang, China; Department of Hepatobiliary and Pancreatic Surgery, The Second Affiliated Hospital, School of Medicine, Zhejiang University, 310000 Hangzhou, Zhejiang, China.
Aim: While most splenic ruptures manifest as immediate hemorrhage, a minority of patients experience delayed rupture, which occurs days to weeks after the initial trauma. Although there have been reports of delayed splenic rupture following trauma, the exact pathophysiology of this condition and the appropriate treatment remain contentious. This article aims to further discuss and summarize the diagnosis and treatment protocols for delayed traumatic rupture of the spleen through the collection and analysis of existing clinical data, combined with previous literature.
View Article and Find Full Text PDFAnn Ital Chir
March 2025
Department of Pediatric Dentistry and Preclinical Dentistry, Wroclaw Medical University, 50-425 Wroclaw, Poland.
The aim of this article was to present a two-step procedure for treating two large periapical lesions located near the maxillary sinus. The first lesion measuring 7.1 mm by 6.
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