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| http://dx.doi.org/10.3904/kjim.2015.30.5.730 | DOI Listing |
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Male Infertility associated with a Novel Mutation in Carney Complex.
Clin Med Insights Endocrinol Diabetes
October 2024
Department of Endocrinology, Acibadem Sistina Hospital, North Macedonia.
Article Synopsis
- - Carney Complex (CNC) is a rare genetic syndrome causing spotty skin pigmentation and multiple tumors, including heart tumors (myxomas) and specific testicular tumors, and is usually inherited in an autosomal dominant manner.
- - A 30-year-old male patient with CNC experienced severe infertility issues connected to both oligoasthenozoospermia and a rare testicular tumor (LCCSCT), along with recurring cardiac myxomas.
- - Molecular testing revealed a novel gene mutation that may lead to male infertility in CNC patients; highlighting the need for early diagnosis and management of infertility in affected males.
Novel mutation in Carney complex: a case report and literature review.
Front Endocrinol (Lausanne)
July 2024
Department of Medical Oncology, Zhangzhou Municipal Hospital, Zhangzhou Municipal Hospital Affiliated of Fujian Medical University, Zhangzhou, China.
Article Synopsis
- Carney complex is a rare genetic syndrome linked to mutations, and a new mutation was identified in a 23-year-old Chinese patient who has a family history of cardiac myxomas.
- The patient presented with symptoms like central obesity, high blood pressure, hyperpigmentation, and high cortisol levels, leading to a diagnosis of Cushing's syndrome.
- Surgical intervention was performed to remove adrenal and retroperitoneal tumors, resulting in improved health outcomes, including weight loss and reduced cortisol levels.
Dualistic Effects of PRKAR1A as a Potential Anticancer Target in Cancer Cells and Cancer-Derived Stem Cells.
Int J Mol Sci
March 2024
Department of Biomedical Laboratory Science, Konyang University, Daejeon 35365, Republic of Korea.
The integration of innovative medical technologies and interdisciplinary collaboration could improve the treatment of cancer, a globally prevalent and often deadly disease. Despite recent advancements, current cancer therapies fail to specifically address recurrence and target cancer stem cells (CSCs), which contribute to relapse. In this study, we utilized three types of cancer cells, from which three types of CSCs were further derived, to conduct a proteomic analysis.
View Article and Find Full Text PDFLipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
JCI Insight
February 2024
Metabolic Medicine Branch, National Human Genome Research Institute.
A distinct adipose tissue distribution pattern was observed in patients with methylmalonyl-CoA mutase deficiency, an inborn error of branched-chain amino acid (BCAA) metabolism, characterized by centripetal obesity with proximal upper and lower extremity fat deposition and paucity of visceral fat, that resembles familial multiple lipomatosis syndrome. To explore brown and white fat physiology in methylmalonic acidemia (MMA), body composition, adipokines, and inflammatory markers were assessed in 46 patients with MMA and 99 matched controls. Fibroblast growth factor 21 levels were associated with acyl-CoA accretion, aberrant methylmalonylation in adipose tissue, and an attenuated inflammatory cytokine profile.
View Article and Find Full Text PDFMolecular characterization of large cell calcifying sertoli cell tumors: A multi-institutional study of 6 benign and 2 malignant tumors.
Hum Pathol
February 2024
Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, USA.
Article Synopsis
- Large cell calcifying Sertoli cell tumors (LCCSCTs) are rare and mostly benign testicular tumors, but around 10-20% can be malignant, often associated with the Carney complex.
- The study analyzed eight LCCSCTs for new molecular changes beyond known PRKAR1A mutations; all tumors displayed PRKAR1A alterations, with additional mutations identified in one case with metastatic disease.
- While the tumors primarily occur sporadically, the findings suggest PRKAR1A mutations play a key role in LCCSCTs, with more research needed to determine if other mutations contribute to malignant progression.
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