Publications by authors named "James M Welch"
Article Synopsis
- A 51-year-old woman with a history of primary hyperparathyroidism (PHPT) and osteoporosis was referred for hypercalcemia after experiencing a fall.
- She exhibited various symptoms including dysmorphic features and skin lesions, and lab tests confirmed PHPT with elevated parathyroid hormone (PTH) levels.
- Following surgery to remove a parathyroid lesion, her hormone levels normalized, and genetic testing identified a likely pathogenic variant associated with both PHPT and other developmental issues, suggesting genetic testing could benefit similar patients even without a family history.
Purpose: Patients with multiple endocrine neoplasia type 1 (MEN1) are predisposed to develop duodenopancreatic neuroendocrine tumors (dpNETs), and metastatic dpNET is the primary cause of disease-related mortality. Presently, there is a paucity of prognostic factors that can reliably identify patients with MEN1-related dpNETS who are at high risk of distant metastasis. In the current study, we aimed to establish novel circulating molecular protein signatures associated with disease progression.
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- Patients with MEN1 syndrome have mutations in the MEN1 gene, making them susceptible to various tumors, including rare thymic neuroendocrine tumors (NETs), which can be lethal.
- The study reviewed 294 MEN1 patients and found that 4.8% had thymic tumors, revealing that loss of heterozygosity (LOH) at the MEN1 gene locus contributes to these tumors' development.
- RNA sequencing indicated that thymic NETs have a distinct gene expression profile, with KSR2 being highly expressed, suggesting it could be a target for future therapies.
Context: Duodenopancreatic neuroendocrine tumors (dpNETs) frequently occur in patients with multiple endocrine neoplasia type 1 (MEN1), and metastatic dpNET is the primary cause of disease-related mortality. There is a need for biomarkers that can identify patients with MEN1-related dpNETs that are at high risk of developing distant metastasis. Polyamines have tumor-promoting roles in several cancer types.
View Article and Find Full Text PDFBackground: Smoking continues to be the leading preventable cause of death. Digital Interventions for Smoking Cessation (DISCs) are health communication programs accessible via the internet and smartphones and allow for greater reach and effectiveness of tobacco cessation programs. DISCs have led to increased 6-month cessation rates while also reaching vulnerable populations.
View Article and Find Full Text PDFA 77-year-old woman was diagnosed with pheochromocytoma followed by adrenalectomy at age 57. Hyperparathyroidism without osteoprosis was diagnosed at age 58. At age 75, Dual Energy X-ray Absoptiometry (DEXA) revealed osteoporosis and sestamibi scan showed a left parathyroid adenoma.
View Article and Find Full Text PDFContext: Germline gain-of-function variants in the transcription factor GCM2 were found in 18% of kindreds with familial isolated hyperparathyroidism (FIHP). These variants [c.1136T>A (p.
View Article and Find Full Text PDFPrimary hyperparathyroidism (PHPT) is a common endocrine disease characterized by parathyroid hormone excess and hypercalcemia and caused by hypersecreting parathyroid glands. Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), or as part of a syndrome, such as multiple endocrine neoplasia type 1 or hyperparathyroidism-jaw tumor syndrome. The specific genetic or other cause(s) of FIHP are unknown.
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