Publications by authors named "L Fishbein"
Importance: A subset of thyroid cancers develops in a setting of a known hereditary cancer-associated syndrome. Understanding the population prevalence of thyroid cancer-associated syndromes is important to guide germline genetic testing and clinical management.
Objective: To estimate the prevalence of the major thyroid cancer-associated syndromes in the United States using the All of Us Research Program (AoU) data.
Neurodegeneration is a seminal feature of many neurological disorders. Chronic traumatic encephalopathy (CTE) is caused by repetitive head impacts (RHI) and is characterized by sulcal tau pathology. However, quantitative assessments of regional neurodegeneration in CTE have not been described.
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- Alzheimer's disease is a leading form of dementia in older adults, and early detection is crucial for effective intervention since its effects can begin decades before symptoms show.
- The study utilized advanced machine learning techniques to create models predicting Alzheimer's status and onset age, analyzing a range of biological and medical data from UK Biobank, with significant emphasis on the importance of specific proteins.
- Notable findings include that GFAP and CXCL17 proteins are strong predictors of Alzheimer's, while genomics and proteomics provided the most valuable information in predicting disease status, although expanding the dataset with "AD-by-proxy" cases didn't enhance prediction accuracy.
Context: The natural history and malignant potential of cases classified as atypical adrenal masses (AAMs) are unknown.
Objective: To describe the radiological characteristics and clinical outcomes of AAMs.
Design And Participants: A multicenter retrospective study.
MEN2 phenotype in a family with germline heterozygous rare RET K666N variant.
Endocrinol Diabetes Metab Case Rep
July 2024
Article Synopsis
- MEN2 is a hereditary cancer syndrome linked to mutations in the RET proto-oncogene, with MEN2A being the most common form, involving risks for medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism.
- The specific RET variant K666N is rare, and most associated patients generally present with a mild form of medullary thyroid cancer; however, one case showed more severe symptoms including pheochromocytoma.
- A reported case involves a young proband who developed severe complications post-surgery, revealing a RET K666N variant alongside pheochromocytoma, medullary thyroid cancer, and primary hyperparathyroidism, indicating it may have low penetrance in MEN