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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 PDFDevelopment and Evaluation of an Automated Multimodal Mobile Detection of Oral Cancer (mDOC) Imaging System to Aid in Risk-based Management of Oral Mucosal Lesions.
Cancer Prev Res (Phila)
January 2025
Rice University, Houston, Texas, United States.
Oral cancer is a major global health problem. It is commonly diagnosed at an advanced stage although often preceded by clinically visible oral mucosal lesions, termed oral potentially malignant disorders associated with an increased risk for oral cancer development. There is an unmet clinical need for effective screening tools to assist front-line healthcare providers to determine which patients should be referred to an oral cancer specialist for evaluation.
View Article and Find Full Text PDFEctopic Thyrotropin-Secreting Tumor in the Nasopharynx Causing Central Hyperthyroidism.
JCEM Case Rep
January 2025
Section of Endocrinology and Investigative Medicine, Department of Metabolism, Digestion and Reproduction, Imperial College, London W12 ONN, UK.
We report a 31-year-old man with diarrhea and tachycardia. Diagnostic workup confirmed raised free thyroid hormones with unsuppressed thyroid stimulating hormone (TSH). Laboratory assay and medication interference were excluded.
View Article and Find Full Text PDFSexual Abuse as a Cause of Sexually Transmitted Infections (STI) and Human Immunodeficiency Virus (HIV) in a Bisexual Adolescent Indonesian: A Case Report.
HIV AIDS (Auckl)
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, Universitas Padjadjaran - Dr. Hasan Sadikin Hospital, Bandung, West Java, Indonesia.
Sexual abuse is any non-consensual sexual act or behavior using force, with significant concern in "men who have sex with men" (MSM), and younger individuals. The incidence of sexually transmitted infections (STI) is also prevalent in the cases of sexual abuse in this population, showing the need for comprehensive medical and psychological intervention. This study presents a case of a 15-year-old Indonesian MSM adolescent who experienced three forced sexual intercourse with a mid-thirties male friend 6 months before the consultation.
View Article and Find Full Text PDFUrogenital Manifestations in Mpox (Monkeypox) Infection: A Comprehensive Review of Epidemiology, Pathogenesis, and Therapeutic Approaches.
Infect Drug Resist
January 2025
Department of Urology, Institute of Urology, West China Hospital, Sichuan University, Chengdu, People's Republic of China.
Monkeypox (mpox), caused by mpox virus (MPXV) infection, reemerged in 2022 and still raises concerns globally. Abundant clinical data indicate that mpox is a sexually transmitted infection and that the urogenital system is the most frequently involved system in mpox, which deserves more attention. Penile lesions are the most common presentation, followed by urethritis.
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