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http://dx.doi.org/10.1136/bcr-2016-218137 | DOI Listing |
J Pediatr Endocrinol Metab
January 2025
Division of Pediatric Neurology, Department of Pediatrics and Child Health, Erciyes University, Faculty of Medicine, Kayseri, Türkiye.
Objectives: Tangier disease (TD) is a rare autosomal recessive condition characterized by high-density lipoprotein (HDL) deficiency; involving symptoms of polyneuropathy, hyperplastic orange-yellow tonsils, vision disorder, and sudden cardiac death. The major clinical symptoms of TD may not all be co-present. This study evaluates patients diagnosed with TD in childhood to improve the possibility of early diagnosis of asymptomatic cases by reporting our patients' clinical characteristics in order to minimize delayed diagnosis and emphasize the importance of TD, easily detected by HDL measurement.
View Article and Find Full Text PDFWorld J Gastrointest Oncol
January 2025
Clinical Laboratory, Tongji Hospital of Tongji University, Shanghai 200000, China.
Background: Gastric cancer (GC) is a prevalent malignancy with a substantial health burden and high mortality rate, despite advances in prevention, early detection, and treatment. Compared with the global average, Asia, notably China, reports disproportionately high GC incidences. The disease often progresses asymptomatically in the early stages, leading to delayed diagnosis and compromised outcomes.
View Article and Find Full Text PDFRadiol Case Rep
March 2025
Urology Department CHU Ibn Sina, Mohamed V University Rabat, Morocco.
A 50-year-old patient with a prior history of chronic smoking presented to the emergency department with diffuse abdominal pain, primarily localized to the right hypochondrium and epigastric region, along with nausea, but without fever, vomiting, or urinary symptoms. Laboratory tests were largely unremarkable except for isolated hematuria and a mildly elevated CRP. Given the atypical clinical presentation, a 3-phase abdominal CT scan (without contrast, portal, and delayed phases) was conducted, revealing a horseshoe kidney with an obstructing 4 mm stone at the right ureteral meatus.
View Article and Find Full Text PDFEcancermedicalscience
October 2024
Department of Medical Oncology, Tata Memorial Hospital, Homi Bhabha National Institute, Mumbai 400012, India.
Spread of lung cancer to the leptomeninges is rare and difficult to treat. Standard therapy comprises CNS-penetrant targeted agents with or without intrathecal chemotherapy. We performed a retrospective analysis of 16 patients with advanced NSCLC and leptomeningeal disease treated with intrathecal pemetrexed 50 mg.
View Article and Find Full Text PDFEcancermedicalscience
November 2024
Department of Radiation Oncology, Government Medical College and Hospital, Chandigarh 160030, India.
Background: There is limited data from India on Ewing sarcoma (ES) patients. We analysed the demographic and clinical profile of ES patients, the systemic chemotherapy, local treatment and outcomes in patients with localised, metastatic and recurrent disease.
Methods: Data of ES patients reporting from 2010 to 2019 to a tertiary care referral centre in north India was evaluated.
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