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Pediatric pancreatic acinar cell carcinoma with a non-canonical BRAF-KMT2C fusion and a classic SND1-BRAF fusion: a case report and literature review.
BMC Pediatr
January 2025
Department of Pediatric, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
Background: Pediatric pancreatic acinar cell carcinoma (PACC) is an exceptionally rare and poorly understood malignancy with a challenging prognosis. Its clinical presentation is often atypical, and standardized treatment guidelines are currently unavailable. While genetic alterations in adult PACC have been studied to some extent, knowledge of genetic abnormalities in pediatric cases remains limited.
View Article and Find Full Text PDFCase Report: 18F-FDG PET/CT for FUO Due to Whipple Disease Infection.
Clin Nucl Med
January 2025
Nuclear Medicine, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
We present the case of a 60-year-old man admitted to the hospital presenting with high FUO (fever of unknown origin), strong headache, face erythematous-desquamative cutaneous lesions, long history of abdominal pain, and diffuse myalgia. He was also previously treated with immunosuppressants and currently managed with corticosteroids for a seronegative rheumatic disease. Given the immunocompromised state, an infective etiology was suspected.
View Article and Find Full Text PDFUnmasking Long QT Syndrome in a Serviceman: Effects of Hypoglycemia and a Flight Duty Medical Examination.
Mil Med
January 2025
Division of Endocrinology, Diabetes and Metabolism, University of California Davis Health, Sacramento, CA 95817, USA.
We report the case of a 29-year-old male soldier with a time in service above 10 years, found to have asymptomatic long QT syndrome (LQTS), a condition associated with increased risk of potentially fatal ventricular arrhythmias, during a flight physical. A review of his past medical history revealed a transient QT prolongation during an episode of hypoglycemia due to endogenous hyperinsulinism caused by an insulinoma, as an infantryman 7 years earlier; the resolution of the QT prolongation was spontaneous. He was evaluated and considered fit for duty by cardiology.
View Article and Find Full Text PDFCentral nervous system involvement in Whipple's disease: Report of a rare pathological entity and comparative review of treatment strategies and outcomes.
Radiol Case Rep
March 2025
Department of Infectious Diseases and Tropical Medicine, Faculty of Medicine, Al-Azhar University, Cairo, Egypt.
Whipple's disease, caused by the gram-positive actinomycete , is a rare chronic systemic illness with significant diagnostic and therapeutic challenges, particularly when the CNS is involved. This case report details a 46-year-old man presenting with a constellation of symptoms including fatigue, hypersomnia, weight loss, bifrontal headaches, abdominal pain, treatment-unresponsive diarrhea, and skin hyperpigmentation. Neurological examination revealed oculomasticatory myorhythmia, and imaging studies showed nodular enhancement of the hypothalamus and basal ganglia, along with retroperitoneal lymphadenopathy.
View Article and Find Full Text PDFInsulinoma With Ambiguous Biochemistry, Positive Ga-DOTA-Exendin-4 PET-CT, and Effective Endoscopic Ablation.
JCEM Case Rep
January 2025
Department of Endocrinology, Tan Tock Seng Hospital, Singapore 308433.
A 75-year-old female presented with fasting hypoglycemic episodes. A supervised fast ended at 72 hours fulfilling Whipple triad, with suppressed insulin and C-peptide levels, but discordantly suppressed serum β-hydroxybutyrate levels. After 21 months of recurring symptoms, a repeat fast ended at 48 hours with Whipple triad, suppressed serum β-hydroxybutyrate level, and borderline nonsuppressed C-peptide level, suggesting endogenous hyperinsulinism.
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