Background: Despite abundant literature on parathyroid scanning with technetium 99m-labeled cationic complexes, comprehensive clinical reports that unequivocally correlate scanning findings with the anatomy of parathyroid glands in extensive and homogeneous cohorts of patients are lacking.
Methods: We analyzed the records of patients with sporadic primary hyperparathyroidism who had had a preoperative scan with either 99mTc-labeled sestamibi or 99mTc-labeled tetrofosmin at our institution and who were cured after a bilateral surgical neck exploration procedure.
Results: In 261 patients, 710 normal and 347 abnormal glands (1494 +/- 2626 mg), including 15 glands within the mediastinum, were identified. Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of scanning were 82%, 98%, 91%, 94%, and 94%, respectively, in 197 patients with uniglandular disease and 53%, 98%, 98%, 60%, and 72%, respectively, in 64 patients with multiglandular disease. False-positive uptakes were encountered in 17 patients (7%), 3 false-positive uptakes being within the mediastinum. If the unilateral approach had been followed, guidance with preoperative scanning would have significantly increased the number of effective unilateral neck exploration procedures (164 patients (63%) vs 78 patients (30%); P < .001). One abnormal gland would also have been neglected in 28 patients (11%).
Conclusions: Preoperative scanning would limit neck exploration procedures in two thirds of patients with sporadic primary hyperparathyroidism but may also increase the risk of failure in the most challenging cases.
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http://dx.doi.org/10.1067/msy.2099.101579 | DOI Listing |
Clin Cancer Res
December 2024
Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Badalona, Barcelona, Spain.
Purpose: Malignant peripheral nerve sheath tumor (MPNST) is an aggressive soft tissue sarcoma that develops sporadically or in Neurofibromatosis type 1 patients. Its development is marked by the inactivation of specific tumor suppressor genes (TSGs): NF1, CDKN2A and SUZ12EED (Polycomb Repressor Complex 2). Each TSG loss can be targeted by particular drug inhibitors and we aimed to systematically combine these inhibitors, guided by TSG inactivation status, to test their precision medicine potential for MPNSTs.
View Article and Find Full Text PDFJAMA Neurol
December 2024
Department of Neurology, Medical University of Vienna, Vienna, Austria.
Importance: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, rapidly progressive and fatal neurodegenerative disease. Definite sCJD diagnosis can only be made post mortem, and little is known about the prodromal phase of the disease.
Objective: To compare drug prescription patterns before the clinical onset of sCJD between patients and matched controls for exploration of potential risk factors and to assess correlations between drug exposure and sCJD survival.
Background: Specific PSEN1 mutations cause early-onset AD but their effects on blood biomarker levels are unknown. We evaluated autopsy-confirmed individuals affected by six different PSEN1 mutations; two of known (L381V, C410Y) and three (A426P/E318G, M233L, and V261I) of unknown pathogenic status. The sixth patient had Autosomal Dominant AD (ADAD) not yet genotyped.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Memory and Aging Center, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Background: Diagnosing sporadic early-onset AD (EOAD, age-at-onset<65) is challenging: in the multi-center Longitudinal Early-onset Alzheimer's Disease Study, ∼25% of patients with clinically diagnosed EOAD are amyloid-PET-negative. Here we used FDG-PET to characterize the heterogeneity of hypometabolic profiles in these patients and better identify underlying etiologies.
Method: Seventy-four amyloid-PET-negative patients with clinical diagnosis of sporadic EOAD (MCI or mild dementia stage) underwent FDG-PET.
Alzheimers Dement
December 2024
Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Background: A rare reelin gene variant (RELN-COLBOS mutation) delayed dementia onset in almost 30 years in an autosomal dominant Alzheimer's disease (ADAD) carrier. This patient presented with high amyloid-β (Aβ) plaque load, but low tau accumulation, suggesting that this single-nucleotide polymorphism (SNP) in RELN conferred a resilience not only to cognitive decline but also to tauopathy in ADAD. However, whether RELN SNPs are also protective in sporadic Alzheimer's disease (AD) is yet to be determined.
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