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Dihydropyrimidine enzyme activity and its effect on chemotherapy toxicity: importance of genetic testing.
Cancer Chemother Pharmacol
January 2025
Markey Cancer Center, University of Kentucky, Lexington, KY, USA.
Purpose: Patients with partial or complete DPD deficiency have decreased capacity to degrade fluorouracil and are at risk of developing toxicity, which can be even life-threatening.
Case: A 43-year-old man with moderately differentiated rectal adenocarcinoma on capecitabine presented to the emergency department with complaints of nausea, vomiting, diarrhea, weakness, and lower abdominal pain for several days. Laboratory findings include grade 4 neutropenia (ANC 10) and thrombocytopenia (platelets 36,000).
[Clinical characteristics and genetic analysis of maturity-onset diabetes of the young type 2 diagnosed in childhood].
Zhongguo Dang Dai Er Ke Za Zhi
January 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology/Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan 430030, China.
Objectives: To study the clinical manifestations and genetic characteristics of children with maturity-onset diabetes of the young type 2 (MODY2), aiming to enhance the recognition of MODY2 in clinical practice.
Methods: A retrospective analysis was conducted on the clinical data of 13 children diagnosed with MODY2 at the Department of Pediatrics of Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology from August 2017 to July 2023.
Results: All 13 MODY2 children had a positive family history of diabetes and were found to have mild fasting hyperglycemia [(6.
Acalculous Cholecystitis as an Atypical Presentation of Viral Pericarditis: A Case Report.
Am J Case Rep
January 2025
Department of Surgery, Royal Melbourne Hospital, Parkville, Victoria, Australia.
BACKGROUND Acalculous cholecystitis is a rare form of gallbladder inflammation that occurs without the presence of gallstones. It primarily affects critically ill patients and warrants prompt treatment given its association with high mortality. Pericarditis, an inflammation of the pericardium, typically arises from viral infections but can also be secondary to rheumatological, malignant, or bacterial causes.
View Article and Find Full Text PDFOccult liver nodules: their detection and characterization with CEUS.
Abdom Radiol (NY)
January 2025
University of Calgary, Calgary, Canada.
Objectives: Contrast enhanced ultrasound (CEUS) now joins the ranks of CT and MRI for noninvasive diagnosis of hepatocellular carcinoma (HCC). CEUS LI-RADS provides greater than 95% specificity for diagnosis within LR-5. Unlike CT/MRI, CEUS is nodule based.
View Article and Find Full Text PDFSclerosing bone dysplasias: a pictorial essay.
Radiol Bras
January 2025
Universidade Federal de Juiz de Fora (UFJF), Juiz de Fora, MG, Brazil.
Sclerosing bone dysplasias encompass abnormalities in bone density, divided into hereditary and nonhereditary forms. Primarily diagnosed through radiography, they are often incidental findings. Among the hereditary forms, the following stand out: osteopetrosis, osteopoikilosis, multiple diaphyseal sclerosis (ribbing disease), osteopathia striata, and Camurati-Engelmann disease.
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