Publications by authors named "H Wachtel"
Introduction: Primary aldosteronism affects 20% of patients with resistant hypertension and may be due to unilateral or bilateral causes. Patients with a unilateral source of aldosterone secretion are potentially curable with adrenalectomy. Adrenal vein sampling (AVS) is the definitive test for subtype differentiation but may not be accessible outside tertiary centers.
View Article and Find Full Text PDFBackground: Metastasectomy is a useful adjunct in the management of metastatic cancer. Widespread adoption of novel targeted and immunotherapies has improved the survival profiles of multiple malignancies, which has potentially altered the role of metastasectomy. This study aimed to characterize trends in metastasectomy across five primary cancers eligible for these therapies.
View Article and Find Full Text PDFPurpose: Pathogenic germline variants (PGVs) in a subset of cancer predisposition genes (CPGs) are associated with adult-onset autosomal dominant (AD) cancer susceptibility and life-limiting autosomal recessive (AR) disease. Counseling in adult cancer genetics clinics regarding reproductive risk for PGV heterozygotes is limited.
Methods: Estimated heterozygote frequencies across ancestries were calculated for AD CPGs with AR risk (ATM, BRCA1, BRCA2, BRIP1, FH, NBN, MLH1, MSH2, MSH6, PMS2, RAD51C, SDHA, SDHB, and SDHD) from gnomADv.
Background: Delays in management of adrenocortical carcinoma (ACC) may lead to worse outcomes. We assessed for delays in ACC treatment according to sociodemographic factors.
Methods: We performed a retrospective cohort study of patients treated for ACC (2010-2019) utilizing the National Cancer Database.
Article Synopsis
- Primary aldosteronism is a condition marked by excessive aldosterone production due to adrenal gland lesions, primarily characterized by disrupted regulation of aldosterone synthase (CYP11B2).
- In a study of aldosterone-producing adenomas (APAs) without known mutations, researchers discovered specific mutations in the gene for mucolipin-3 (TRPML3) associated with increased calcium activity and aldosterone production.
- These findings suggest that mutations in TRPML3 may contribute to hormone excess in primary aldosteronism, highlighting the disease's underlying genetic factors and their impact on hypertension.