Multiple endocrine neoplasia type 1 is a rare autosomal dominant disorder classically characterized by a predisposition to tumors of the parathyroid glands, anterior pituitary, and enteropancreatic endocrine cells. We present the clinical details of a patient with diarrhea, nephrolithiasis, erectile dysfunction, and new onset abdominal pain, as well as a discussion of the etiology, pathophysiology, and classical imaging findings of this condition.
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http://dx.doi.org/10.1016/j.radcr.2019.01.007 | DOI Listing |
J Trauma Acute Care Surg
January 2025
From the Division of Gastrointestinal, Trauma, and Endocrine Surgery, Department of Surgery (A.P., K.M.M., A.C.Q., E.J.K., J.-P.I.), Division of Burn Research (E.J.K.), and Division of Alcohol Research (E.J.K.), Department of Immunology and Microbiology, University of Colorado, Aurora, Colorado.
Background: Burn injuries trigger a systemic hyperinflammatory response, leading to multiple organ dysfunction, including significant hepatic damage. The liver plays a crucial role in regulating immune responses and metabolism after burn injuries, making it critical to develop strategies to mitigate hepatic impairment. This study investigates the role of methylation-controlled J protein (MCJ), an inner mitochondrial protein that represses complex I in burn-induced oxidative stress and mitochondrial dysfunction, using an in vitro Alpha Mouse Liver 12 cell model.
View Article and Find Full Text PDFRev Med Chil
June 2024
Departamento de endocrinología, Hospital Clínico San Borja Arriarán, Santiago, Chile.
Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disease with an estimated prevalence of 2 per 100,000. This disease is caused by a mutation in the tumor suppressor gene MEN1, which is located on chromosome 11 and codifies the menin protein. It is characterized by a predisposition of parathyroids, enteropancreatic, and anterior pituitary tumors, affecting the quality of life and lifespan of those who have the disease.
View Article and Find Full Text PDFCureus
December 2024
Clinical Genetics, Aster Malabar Institute of Medical Sciences, Kozhikode, IND.
Neonatal hypoglycemia (NH) is a common abnormality in newborns, posing significant morbidity risks. Prompt diagnosis and treatment are vital to mitigate brain damage and enhance outcomes. Congenital hyperinsulinemia (CHI) is a leading cause of recurrent hypoglycemia in infants, often stemming from genetic mutations such as in the gene, manifesting as hyperinsulinism-hyperammonemia syndrome (HI/HA).
View Article and Find Full Text PDFCancer Diagn Progn
January 2025
Department of Breast and Endocrine Surgery, Mitsui Memorial Hospital, Tokyo, Japan.
Background/aim: Elderly patients with early-stage breast cancer have potentially been underrepresented in clinical trials. Thus, treatment strategies for a minority of elderly patients with hormone receptor (HR)-negative breast cancer may be inadequately informed.
Patients And Methods: We retrospectively reviewed 126 patients with HR-negative breast cancer aged ≥65 years.
BMJ Case Rep
January 2025
Endocrinology, Government Medical College Thiruvananthapuram, Thiruvananthapuram, Kerala, India.
We describe the case of a girl in her middle childhood who presented with signs of heterosexual precocious puberty in the form of axillary and pubic hair growth, acne and clitoromegaly. Investigations showed elevated androgens and autonomous cortisol excess, suggesting an adrenal source. CT imaging confirmed a left adrenal mass and multiple colonic polyps.
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