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3.
AACE Clin Case Rep ; 9(1): 10-12, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36654999

RESUMO

Background/Objective: Multiple endocrine neoplasia type 1 (MEN1) syndrome results from genetic sequence variations of the tumor suppressor MEN1 gene, which codes for the protein menin. Individuals with MEN1 are prone to developing multiple tumors involving the endocrine and nonendocrine organs. MEN1 associated with liposarcomas has not been documented previously. We highlight a case of MEN1 presenting with a metastatic adrenal liposarcoma. Case Report: A 41-year-old Hispanic man with a history of nephrolithiasis and skin lesions presented to the emergency department with abdominal pain. He was found to have a right adrenal mass measuring 7.9 cm with extension into the liver and primary hyperparathyroidism. He had multiple paternal first-degree relatives with similar skin lesions, hypercalcemia, and tumors of the brain, thoracic cavity, abdomen, and thyroid. The mass was identified as a metastatic pleiomorphic adrenal liposarcoma on surgical pathology. Genetic testing revealed a germline pathogenic sequence variation of the MEN1 gene. Discussion: Liposarcomas are rare malignant tumors with an annual incidence of 2.5 cases per 1 million. Although lipoma formation is a commonly described manifestation of MEN1, liposarcomas have not been associated with MEN1 previously. A potential mechanism of this association is through the role of menin in inducing adipocyte differentiation via peroxisome proliferator-activated receptor-γ activation, a highly expressed protein in liposarcomas. Conclusion: Liposarcomas should be included in the differential of MEN1-related tumors.

4.
Endocr Pract ; 29(4): 229-234, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36539065

RESUMO

OBJECTIVE: To evaluate cardiovascular risk factors and prevalent coronary artery disease (CAD) using Coronary Artery Calcium (CAC) scoring in transgender and gender-diverse (TGD) individuals receiving gender-affirming hormone therapy (GAHT) and compare the CAC scores of TGD individuals with those of the general population. METHODS: TGD individuals aged ≥30 years, without known risk factors for cardiovascular disease (CVD), other than tobacco use and family history of CVD, on GAHT were recruited, and baseline information, including metabolic parameters, was collected. CAC scores were obtained and compared with those of a cisgender age-matched population. RESULTS: Of 25 transwomen recruited, 24 underwent CAC scans. Of them, 2 (8.3%) had a CAC score of >0 to 99 and 1 (4.1%) had a CAC score of ≥100. Of 22 transmen recruited, 16 underwent CAC scans. Of them, 26 (12.5%) had a CAC score of >0 to 99 and none had a CAC score of ≥100. Framingham Risk Scores were not correlated with the presence of CAC. CONCLUSION: The presence of CAC in this small cohort of TGD individuals on GAHT was similar to that in the cisgender age-matched population. CAC scoring is a means to assess the prevalence of CAD in TGD individuals and identify those in whom aggressive risk reduction is indicated.


Assuntos
Doenças Cardiovasculares , Doença da Artéria Coronariana , Pessoas Transgênero , Humanos , Cálcio/uso terapêutico , Doença da Artéria Coronariana/diagnóstico por imagem , Doença da Artéria Coronariana/epidemiologia , Doença da Artéria Coronariana/etiologia , Medição de Risco , Doenças Cardiovasculares/complicações , Fatores de Risco , Hormônios
6.
Cureus ; 14(7): e27235, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36039219

RESUMO

Despite the evidence that complicated rheumatic diseases are more prevalent and severe in ethnic minorities, rheumatology research is afflicted with inadequate patient representation. It is lacking in ethnic and socioeconomic diversity. The objective of this study is to identify barriers to enrollment in rheumatology research and propose possible solutions to overcome these barriers. In this study, 184 patients from two rheumatology clinics (Safety Net clinic, a university-based clinic) were surveyed for concerns regarding participation in clinical research. Patients were asked to rank their top five of eight concerns. Data were then stratified by self-reported ethnicity and clinic site to determine ranking differences in both groups. Fear of risks associated with clinical research was ranked as the primary barrier in all ethnicities. More non-Hispanic Whites (NHW) (24.4%) ranked work responsibilities as a primary barrier compared to Hispanics (10%). Fear of discovering a serious illness as a primary barrier was more frequent at the Safety Net clinic (25%) compared to the university-based clinic (6.3%) and ranked more frequently in the top five in Hispanics compared to NHW. Fears associated with research risks, work responsibilities, and fear of discovering a serious illness were the top-ranked barriers to enrollment in research among patients. However, differences in rankings between ethnicities and clinic sites were identified. This sheds light on the importance of health literacy and the responsibility of researchers in addressing gaps in communication while acknowledging potential cultural components that warrant further investigation.

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