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Role of Morphology in the Diagnosis of an Unsuspected Case of Chediak-Higashi Syndrome: A Case Report.
Cureus
December 2024
Department of Pathology, Ranga Raya Medical College, Kakinada, IND.
Chediak-Higashi syndrome (CHS) is a rare multisystem genetic disorder of childhood, caused by a defect in vesicular trafficking, which is an essential process for intracellular transport. This defect results in the formation of giant cytoplasmic granules in various cell types, including white blood cells, melanosomes, and Schwann cells. The presence of giant lysosomal granules in neutrophils and their precursors is a distinct and diagnostic feature of CHS, differentiating it from other childhood immunodeficiency disorders, such as Griscelli syndrome and Hermansky-Pudlak syndrome, which share common characteristics like albinism and increased susceptibility to fatal hemophagocytic lymphohistiocytosis.
View Article and Find Full Text PDFThe complexity of the interpretation of ELISA and RT-PCR results in the diagnosis of a reticuloendotheliosis virus infection: an extended case study.
Avian Pathol
December 2024
Royal GD, Deventer, the Netherlands.
Reticuloendotheliosis virus (REV) is a species of the genus that can cause neoplasia, immunosuppression, and runting-stunting syndrome. To show the clinical relevance of REV is complicated, and requires the demonstration of the virus, REV antibodies, the presence of typical gross and microscopic lesions, and the exclusion of other oncogenic agents in the case of the presence of tumours. Under field conditions, the first tests to be used might be a commercially available REV antibody ELISA or an RT-PCR to detect the REV genome.
View Article and Find Full Text PDFGiant Duodenal Brunneroma: Report of a Rare Case and Review of the Literature.
Am J Case Rep
December 2024
Department of Visceral Surgery, Hospital of the Canton of St. Gallen, St. Gallen, Switzerland.
BACKGROUND Brunneromas are among the rarest benign tumors of the upper gastrointestinal tract. They arise from the Brunner's glands and patients have a good prognosis if treated timely and radically. Because symptoms are rare, their diagnosis can be challenging, especially regarding the smaller ones.
View Article and Find Full Text PDFIntroduction: Jaundice is a state of disease in liver function often along with gastrointestinal (GI) complications primarily characterized by hyperbilirubinemia. Other tests regarding liver function are often used besides bilirubin as during any liver complications biomarkers such as alanine aminotransferase (ALT), serum glutamic pyruvic transaminase (SGPT), aspartate aminotransferase (AST), serum glutamic-oxaloacetic transaminase (SGOT), alkaline phosphatase (ALP), and many other biomarkers even total protein metabolism might get disrupted and get released in the blood. However, no comparison or association among those biomarkers was determined in a cohort.
View Article and Find Full Text PDFContribution of an Artificial Intelligence Tool in the Detection of Incidental Pulmonary Embolism on Oncology Assessment Scans.
Life (Basel)
October 2024
Division of International Patients Care, Gustave Roussy, 94805 Villejuif, France.
Introduction: The incidence of venous thromboembolism is estimated to be around 3% of cancer patients. However, a majority of incidental pulmonary embolism (iPE) can be overlooked by radiologists in asymptomatic patients, performing CT scans for disease surveillance, which may significantly impact the patient's health and management. Routine imaging in oncology is usually reviewed with delayed hours after the acquisition of images.
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