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Last Updated: 03/06/2025
Longitudinal Assessment and Natural History Study of Children and Adults With MEN2A or MEN2B With or Without Medullary Thyroid Carcinoma
Background: - Medullary thyroid cancer (MTC) is a rare cancer of the thyroid gland. In children and adults, it is often part of a condition called Multiple Endocrine Neoplasia 2 (MEN2). MEN2 is usually caused by a genetic mutation, and it can cause a number of problems in addition to MTC. These problems include adrenal gland tumors, hormone changes, and problems with the bones and other organs. Not much is kn...
Bone and Muscle Health Following Sleeve Gastrectomy in Men, Premenopausal and Postmenopausal Women
Background: Bariatric surgery is gaining in popularity. While it's health benefits are undisputed, the older malabsorptive bariatric procedures (Roux-in-Y gastric bypass - RYGB and biliopancreatic diversion - BPD) are associated with an increased risk of fractures and falls as early as 3-5 years after surgery. Sleeve gastrectomy - SG is now the most performed bariatric procedure. Although SG does not cause ma...
Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients
Summary: Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs. Their clinical behavior is quite variable, encompassing both benign lesions and aggressive tumors that invade surrounding and/or distant structures. NENs may also cause serious morbidity due to hormone oversecretion. NENs are am...
Familial Investigations of Childhood Cancer Predisposition
Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...
Coordination of Rare Diseases at Sanford
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Engaging Men in Weight Loss With a Game-based mHealth and Neurotraining Program: A 2 x 2 Randomized Design
Summary: Men in the United States have an exceptionally high prevalence of overweight and obesity, i.e., 71.3%, and 42% of men are currently attempting weight loss. However, men are dramatically underrepresented in weight loss programs. Attempts to modestly adapt standard weight loss programs have seen only minimal success. Mobile applications (mHealth apps) have attractive features, but have low male enro...
Genetic Modifying Factors and Pheochromocytomas in Multiple Endocrine Neoplasia Type 2
Summary: Multiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome associated with activating mutations in the RET proto-oncogene, combining medullary thyroid cancer in approximately 100% of cases and pheochromocytoma in 10-80% of cases. While it is accepted that the RET mutation causes variable penetrance of pheochromocytoma in the MEN2A patient population, there is no pathophysiological explanation...
Last Updated: 03/06/2025