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Chapter 5: THE ROLE OF GENETICS IN PRIMARY HYPERPARATHYROIDISM.
Ann Endocrinol (Paris)
January 2025
Univ. Lille, Inserm, CHU Lille, U1286 - Infinite, F-59045 Lille Cedex, Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France. Electronic address:
Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or hyperparathyroidism-jaw tumor syndrome, while the remainder are cases of isolated familial primary hyperparathyroidism. Recognition of these genetic forms is important to ensure appropriate management according to the gene and type of variant involved, but screening for a genetic cause is not justified in all patients presenting primary hyperparathyroidism. The indications for genetic analysis have made it possible to propose a decision tree that takes into account whether the presentation is familial or sporadic, syndromic or isolated, patient age, and histopathological type of parathyroid lesion.
View Article and Find Full Text PDFChapter 8: MANAGEMENT OF AGGRESSIVE FORMS OF PRIMARY HPT: PARATHYROID CARCINOMA AND ATYPICAL PARATHYROID TUMOR.
Ann Endocrinol (Paris)
January 2025
Imaging Department, Nuclear Medicine Service, Gustave Roussy, Université Paris-Saclay, F-94805, Villejuif, France.
Parathyroid carcinoma is extremely rare, affecting 1% of cases of primary hyperparathyroidism. For this reason, management is poorly codified and requires expertise in specialized center. PC is genetically determined in a quarter to a third of cases, notably involving the CDC73 gene coding for parafibromin.
View Article and Find Full Text PDFChapter 0: Introduction to the Consensus on Primary Hyperparathyroidism from the French Society of Endocrinology, French Association of Endocrine Surgery and French Society of Nuclear Medicine.
Ann Endocrinol (Paris)
January 2025
Department of Surgery (CVMC), Unit of Endocrine and Metabolic Surgery, University of Lorraine, CHU Nancy-Hospital Brabois Adultes, Nancy, France.
This consensus on primary hyperparathyroidism, drawn up under the aegises of the French Society of Endocrinology (SFE), French Association of Endocrine Surgery (AFCE) and French Society of Nuclear Medicine (SFMN), provides an update on positive, etiological and differential diagnosis and treatment in primary hyperparathyroidism. These recommendations take account of recent increase in the prevalence of primary hyperparathyroidism, due to 1. more systematic routine measurement of blood calcium and improved quality of parathyroid hormone assays, 2.
View Article and Find Full Text PDFChapter 3: IMPACT OF PRIMARY HYPERPARATHYROIDISM.
Ann Endocrinol (Paris)
January 2025
Hospices Civils de Lyon, Groupement Hospitalier Est, Endocrinology Federation, Lyon, France.
At present, primary hyperparathyroidism is most often discovered in an asymptomatic patient, but can sometimes be revealed by a renal or bone complications. In all cases, a full work-up is recommended, with assessment of renal function (glomerular filtration rate), 24-hour calciuria, screening for risk factors for lithiasis, and renal and urinary tract imaging (ultrasound or CT scan) to look for stones or nephrocalcinosis. Bone densitometry, with measurements of the spine, femur and radius, is the recommended reference test for demineralization.
View Article and Find Full Text PDFDevelopment of the Whole Day Matters Toolkit for Primary Care: a consensus-building study to mobilize national public health guidelines in practice.
Health Promot Chronic Dis Prev Can
January 2025
School of Kinesiology and Health Studies, Queen's University, Kingston, Ontario, Canada.
Introduction: Strategic knowledge mobilization efforts are needed to enhance uptake and use of the Canadian 24-Hour Movement Guidelines (24HMG), which describe optimal amounts of physical activity, sedentary behaviour and sleep each day for overall health. The Whole Day Matters Toolkit for Primary Care is an evidence-informed resource to help primary care providers (PCPs) disseminate the 24HMGs. The purpose of this study was to describe gaining consensus on toolkit components through iterative revisions to improve its utility in preparation for the September 2022 launch, and to summarize early dissemination efforts.
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