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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.

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Chapter 2: PRIMARY HYPERPARATHYROIDISM: DIAGNOSIS.

Ann Endocrinol (Paris)

January 2025

University of Brest, CHU Brest, UMR1304 GETBO, 29200 Brest, France; Endocrinology and Diabetology Department, CHU Brest, 29200 Brest, France.

Primary hyperparathyroidism is now predominantly an asymptomatic pathology, as blood calcium assay has become systematic. Diagnosis therefore requires screening for target organ damage when this is not already indicative of primary hyperparathyroidism.Classical clinical manifestations include bone, kidney and muscle signs, and are characterized by reversibility after parathyroid surgery.

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Osteoporosis increases fracture risk and reduces quality of life in menopausal women. Although physical activity, such as walking and bone joint exercise, is known to help maintain bone health, its effectiveness needs further examination. The aim of this study was to analyze the effects of physical activity, in particular walking and bone joint exercise, on enhancing bone remodeling in menopausal women.

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Objective: Extant imaging methods used for the proper identification of the parathyroid glands to prevent post-operative hypothyroidism associated with the resection of differentiated thyroid cancer (DTC) are limited by factors such as low specificity, high cost, and technical complexity. This study, therefore, sought to investigate the efficacy of the immunocolloidal gold strip method combined with nanocarbon negative imaging tracing technology for parathyroid gland imaging during radical resection of DTC in elderly patients.

Methods: A total of 100 elderly patients with DTC were enrolled and randomly divided into two groups: the control group and the observation group.

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Key Interaction Changes Determine the Activation Process of Human Parathyroid Hormone Type 1 Receptor.

J Am Chem Soc

January 2025

Warshel Institute for Computational Biology, School of Life and Health Sciences, School of Medicine, The Chinese University of Hong Kong (Shenzhen), Shenzhen 518172, China.

The parathyroid hormone type 1 receptor (PTH1R) plays a crucial role in modulating various physiological functions and is considered an effective therapeutic target for osteoporosis. However, a lack of detailed molecular and energetic information about PTH1R limits our comprehensive understanding of its activation process. In this study, we performed computational simulations to explore key events in the activation process, such as conformational changes in PTH1R, Gs protein coupling, and the release of guanosine diphosphate (GDP).

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