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Tuberous sclerosis complex: one disorder, three generations and an assortment of radiological and clinical presentations.
BMJ Case Rep
January 2025
Medicine, Government Medical College Kota, Kota, Rajasthan, India.
This case report presents markedly different clinical and radiological manifestations of the same disease in a family over three consecutive generations with varying treatment strategies. The index case/proband primarily presented with gastrointestinal symptoms, including diarrhoea, bleeding per rectum and seizures. Further evaluation revealed bilateral renal angiomyolipoma and cerebral subependymal nodules, in conjunction with facial adenoma sebaceum, periungual fibromas and hypomelanotic ash-leaf macules.
View Article and Find Full Text PDF[Histomorphologically defined renal cell carcinomas 2025 : Current WHO classification and emerging future subtypes].
Pathologie (Heidelb)
January 2025
Institut für Pathologie, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Krankenhausstraße 8-10, 91054, Erlangen, Deutschland.
Background: The latest edition of the WHO classification of urinary and male genital tumours was published in 2022. The revision was based on the newest scientific literature. This article summarizes the updated recommendations regarding the classification of histomorphologically defined tumours.
View Article and Find Full Text PDFChapter 0: Introduction to the Consensus on Primary Hyperparathyroidism from the French Society of Endocrinology, French Association of Endocrine Surgery and French Society of Nuclear Medicine.
Ann Endocrinol (Paris)
January 2025
Department of Surgery (CVMC), Unit of Endocrine and Metabolic Surgery, University of Lorraine, CHU Nancy-Hospital Brabois Adultes, Nancy, France.
This consensus on primary hyperparathyroidism, drawn up under the aegises of the French Society of Endocrinology (SFE), French Association of Endocrine Surgery (AFCE) and French Society of Nuclear Medicine (SFMN), provides an update on positive, etiological and differential diagnosis and treatment in primary hyperparathyroidism. These recommendations take account of recent increase in the prevalence of primary hyperparathyroidism, due to 1. more systematic routine measurement of blood calcium and improved quality of parathyroid hormone assays, 2.
View Article and Find Full Text PDFMature Adrenal Ganglioneuroma With Lipomatous Content: A Radiological and Histopathological Diagnostic Challenge.
Cureus
December 2024
Clinical Imaging Department, Hamad Medical Corporation, Doha, QAT.
Adrenal incidentalomas are increasingly identified through advanced imaging, posing diagnostic challenges due to their varied benign and malignant nature. We present the case of a 29-year-old male who, during evaluation for left renal colic, was found to have a 5.5 cm heterogeneous right adrenal mass on non-contrast CT, initially suggestive of a myelolipoma.
View Article and Find Full Text PDFPostpartum Hellp Syndrome Associated With Posterior Reversible Encephalopathy Syndrome.
Eur J Case Rep Intern Med
December 2024
Critical Care, Intensive Care Unit, Centro Hospitalar Universitário de Santo António, Porto, Portugal.
Unlabelled: Haemolysis, elevated liver enzymes and low platelets (HELLP) syndrome is a poorly understood, life-threatening multisystemic condition related to pregnancy with a rapid onset, typically observed in patients with severe pre-eclampsia. Various mechanisms may lead to diffuse endothelial damage associated with HELLP and possible brain involvement. A comprehensive review of PubMed, Embase and Cochrane databases was conducted to examine the clinical, laboratory and radiological features associated with postpartum HELLP syndrome, particularly its potential association with posterior reversible encephalopathy syndrome (PRES).
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