Carcinoma of the parathyroid is a rare malignancy that can be cured surgically if the proper diagnosis and treatment is given initially. Arriving to the clinical suspicion of a malignancy preoperatively is by far the most important step for a good prognosis. Our goal is to review the correlation between clinical and final histopathological findings that can arouse the suspicion of such malignancy and their true predictive value in the diagnosis. All patients that underwent surgical removal of the parathyroid mass between March of 1992 and March of 2003 were reviewed retrospectively at Providence Hospital and Medical Centers. Among 168 patients who underwent parathyroid excision, 14 (8.3%) had hyperplasia of the parathyroid, 121 (72%) had benign adenoma, 25 (14.8%) had other benign lesions, and 8 (4.7%) patients had primary carcinoma of the parathyroid confirmed by pathology. Our mean serum calcium level was 11.57 mg/dL, which was lower than the mean level (12 mg/dL) for benign hyperparathyroidism. The mean tumor size was 2.18 cm, smaller than the proposed for malignant criteria, and none of the eight patients (0%) had any symptoms of hypercalcemia at the time of diagnosis. Seven of eight patients (87.5%) had frank signs of invasion together with other histological features, and two patients had associated papillary carcinoma of the thyroid. Five patients from our series did not meet clinical criteria for malignancy (tumor size > 3 cm, palpable mass, and serum calcium > 14 mg/dL), but had undisputable histological findings (high mitotic pattern, fibrous trabeculae, capsular invasion, vascular invasion, and nodular involvement). On the other hand, 17 patients with benign histology had tumors greater than 3 cm, and an additional 18 had palpable masses on physical examination. We believe that these patients need to be followed closely. The patients with diagnosis of parathyroid carcinoma, their kindred, and those with large adenomas may benefit from genetic screening for HRTP2 gene mutations in search of early detection of tumors suspicious for malignancy. This is based on the fact that we did not find correlation between the clinical presentation and the histological features in our patients with proven malignancy.
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J Clin Invest
January 2025
Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, United States of America.
Background: Myotonic dystrophy type 1 (DM1) is a multisystemic, CTG repeat expansion disorder characterized by a slow, progressive decline in skeletal muscle function. A biomarker correlating RNA mis-splicing, the core pathogenic disease mechanism, and muscle performance is crucial for assessing response to disease-modifying interventions. We evaluated the Myotonic Dystrophy Splice Index (SI), a composite RNA splicing biomarker incorporating 22 disease-specific events, as a potential biomarker of DM1 muscle weakness.
View Article and Find Full Text PDFJAMA Netw Open
January 2025
Division of Endocrinology and Metabolism, Department of Medicine, University of Calgary, Calgary, Alberta, Canada.
Importance: Using albumin-adjusted calcium is commonly recommended for for measuring calcium, but with little empirical evidence to support the practice.
Objective: To assess the correlation between total calcium measurements (with or without adjustment) vs the ionized calcium level as a reference standard.
Design, Setting, And Participants: This was a population-based cross-sectional study in the province of Alberta, Canada, including adults tested for serum total calcium and ionized calcium simultaneously between January 1, 2013, and October 31, 2019.
Clin Cancer Res
January 2025
The University of Texas MD Anderson Cancer Center, Houston, Texas, United States.
Purpose: Renal medullary carcinoma (RMC) is a highly aggressive malignancy defined by the loss of the SMARCB1 tumor suppressor. It mainly affects young individuals of African descent with sickle cell trait, and it is resistant to conventional therapies used for other renal cell carcinomas. This study aimed to identify potential biomarkers for early detection and disease monitoring of RMC.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
January 2025
Vitreous Retina Macula Consultants of New York, New York, United States.
Purpose: The purpose of this study was to develop ground-truth histology about contributors to variable fundus autofluorescence (FAF) signal and thus inform patient selection for treating geographic atrophy (GA) in age-related macular degeneration (AMD).
Methods: One woman with bilateral multifocal GA, foveal sparing, and thick choroids underwent 535 to 580 nm excitation FAF in 6 clinic visits (11 to 6 years before death). The left eye was preserved 5 hours after death.
Minerva Anestesiol
December 2024
Pain Management Center, Neurocenter of Southern Switzerland, EOC, Lugano, Switzerland -
Background: Surgical fear is present in many patients awaiting surgery. However, a validated Italian version of the Surgical Fear Questionnaire (SFQ) was not available yet. Therefore, the aim of this study was to translate the SFQ into Italian and to test its reliability and validity.
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