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Unlabelled: The deubiquitinating enzyme BAP1, the catalytic subunit of the PR-DUB complex, is implicated in several cancers, in the familial cancer syndrome BAP1 Tumor Predisposition Syndrome, and in the neurodevelopmental disorder Küry -Isidor syndrome. In there are numerous reports in the literature describing developmental patterning phenotypes for several chromatin regulators including the discovery of Polycomb itself, but corresponding adult morphological phenotypes caused by developmental dysregulation of ortholog ( ) are less well-described. We report here that knockdown of in the eye and wing produce concomitant chromatin dysregulation phenotypes.
View Article and Find Full Text PDFPediatric Meningeal Diseases: What Radiologists Need to Know.
Tomography
December 2024
Department of Radiology, Nemours Children's Health, 1600 Rockland Rd., Wilmington, DE 19803, USA.
Evaluating altered mental status and suspected meningeal disorders in children often begins with imaging, typically before a lumbar puncture. The challenge is that meningeal enhancement is a common finding across a range of pathologies, making diagnosis complex. This review proposes a categorization of meningeal diseases based on their predominant imaging characteristics.
View Article and Find Full Text PDFHorizontal partial laryngectomy for laryngeal neuroendocrine tumor: A case report.
Int J Surg Case Rep
November 2024
Department of Otolaryngology-Head and Neck Surgery, Jichi Medical University, School of Medicine, Shimotsuke 329-0498, Japan. Electronic address:
Introduction: Moderately differentiated neuroendocrine tumors of the larynx are rare malignant tumors that arise from the submucosa of the larynx, for which surgery is the first-line treatment.
Presentation Of Case: We report a case of moderately differentiated neuroendocrine tumor of the larynx, in which the patient, a 74-year-old man, experienced long-term palliation but an unfortunate outcome of death owing to metastasis. Laryngeal endoscopic examination revealed an elevated submucosal lesion on the laryngeal surface of the epiglottis.
Severe lupus nephritis in a young adult with PTEN hamartoma tumour syndrome.
BMJ Case Rep
September 2024
Department of Internal Medicine, Kantonsspital Graubünden, Chur, Graubünden, Switzerland
Article Synopsis
- * Mutations in this gene are linked to hamartoma tumor syndrome, leading to various disorders, including Bannayan-Riley-Ruvalcaba and Cowden syndromes.
- * A recent case study describes a man in his late 20s with a PTEN mutation, who developed lupus nephritis, indicating a possible connection between the mutation and immune system dysregulation.
Differentiating lung neuroendocrine neoplasms from tumor-like infection using CT in patients with ectopic ACTH syndrome.
Insights Imaging
August 2024
Department of Endocrinology, Key Laboratory of Endocrinology of National Health Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Article Synopsis
- Pulmonary neuroendocrine neoplasms (NENs) frequently cause ectopic adrenocorticotropic hormone syndrome (EAS), leading to complications such as lung infections that can appear similar to NENs on imaging.
- A study analyzed imaging data from 59 EAS patients, comparing 45 with NENs to 14 with tumor-like infections, revealing distinct clinical and imaging features that help differentiate between the two conditions.
- Results indicate that CT scans are instrumental for identifying and characterizing pulmonary lesions in EAS, aiding in timely diagnosis and treatment decisions.
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