AI Article Synopsis

  • Multiple endocrine neoplasia type 1 is a genetic disorder that leads to tumor development in specific endocrine glands, notably the parathyroid, pituitary, and cells in the pancreas and intestines.
  • The case discussed features a patient experiencing symptoms like diarrhea, kidney stones, erectile dysfunction, and abdominal pain.
  • The text includes a thorough examination of the condition's causes, the biological mechanisms behind it, and the typical imaging results used for diagnosis.

Article Abstract

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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352705PMC
http://dx.doi.org/10.1016/j.radcr.2019.01.007DOI Listing

Publication Analysis

Top Keywords

multiple endocrine
8
endocrine neoplasia
8
neoplasia type
8
multimodality appearance
4
appearance multiple
4
type case
4
case report
4
report multiple
4
type rare
4
rare autosomal
4

Similar Publications

Burn-induced mitochondrial dysfunction in hepatocytes: The role of methylation-controlled J protein silencing.

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 PDF

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 PDF

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 PDF

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.

View Article and Find Full Text PDF

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.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!