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Infant With Beckwith-Wiedemann Requiring Transplant for Hepatic Mesenchymal Hamartoma.
Pediatr Transplant
February 2025
Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.
Background: Liver transplantation for unresectable, benign hepatic lesions is rare. Hepatic mesenchymal hamartomas (HMH) are benign, cystic tumors that arise mostly in pediatric populations and can cause compressive symptoms. HMH is rarely associated with placental mesenchymal dysplasia (PMD) and Beckwith-Wiedemann syndrome (BWS).
View Article and Find Full Text PDFMetastatic renal cell carcinoma with fibromyomatous stroma associated with tuberous sclerosis or MTOR, TSC1/TSC2-Mutations: A Series of 4 cases and a review of the literature.
Hum Pathol
November 2024
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA. Electronic address:
Renal cell carcinoma with fibromyomatous stroma (RCCfms) are characterized by a constellation of morphologic findings that include elongated tubules lined by cells with clear to pale eosinophilic cytoplasm and intersecting bands of smooth muscle stroma. Consistent immunohistochemistry findings in RCCfms include diffuse positivity for carbonic anhydrase 9 and variable expression of keratin 7. Molecular profiling of such tumors show either pathogenic alterations of the ELOC (TCEB1) gene, or alterations of MTOR, TSC1, and TSC2.
View Article and Find Full Text PDFPrediction of epileptogenicity in patients with tuberous sclerosis complex using multimodal cerebral MRI.
Eur J Radiol
December 2024
Department of Neurology, Joint Research Institution of Altitude Health, West China Hospital, Sichuan University, Chengdu 610041, Sichuan, China; Pazhou Lab, Guangzhou 510330, China. Electronic address:
Objective: Epilepsy is the most common complication and cause of morbidity and mortality in tuberous sclerosis complex (TSC). Surgery is associated with an increased probability of achieving seizure-freedom. However, the preoperative noninvasive localisation of epileptogenic tubers remains challenging.
View Article and Find Full Text PDFBranch retinal vein occlusion and peripheral nonperfusion associated with astrocytic hamartoma of the optic nerve head in a patient with tuberous sclerosis.
Retin Cases Brief Rep
October 2024
Ophthalmology, Oregon Health & Science University, Portland, OR.
Article Synopsis
- The case reports on a patient with tuberous sclerosis complex (TSC) who developed branch retinal vein occlusion (BRVO) leading to retinal neovascularization (NV) and vitreous hemorrhage due to an astrocytic hamartoma (AH) located at the optic nerve head.
- The study utilized electronic health records and advanced imaging techniques like fundus photography, fluorescein angiography, and optical coherence tomography (OCT) to analyze the patient's condition and identify the contributing factors.
- The findings suggest that BRVO and its complications can pose serious risks to vision in patients with AH related to TSC, highlighting the usefulness of OCT in detecting and monitoring these retinal issues.
Quantitative evaluation of DNA damage repair dynamics to elucidate predictors of autism vs. cancer in individuals with germline PTEN variants.
PLoS Comput Biol
October 2024
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America.
Article Synopsis
- Individuals with germline variants in the PTEN gene experience PTEN hamartoma tumor syndrome (PHTS), which is linked to a higher risk of certain cancers and developmental issues, including autism spectrum disorder (ASD).
- Despite established prevalence statistics, predicting individual outcomes related to cancer versus ASD/DD in PHTS remains challenging due to the complex roles of PTEN.
- This study analyzed lymphoblastoid cell lines from PHTS patients, revealing that PTEN mutations affect DNA damage repair efficiency and that those with ASD/DD may have better repair rates compared to other patients, suggesting important links between genetic variants, DNA repair, and clinical phenotypes.
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