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Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype.
JCEM Case Rep
February 2025
University of Utah Health, Division of Endocrinology, Salt Lake City, UT 84108, USA.
Glucocorticoid resistance syndrome (GRS) is caused by inactivating pathogenic variants in the glucocorticoid receptor gene . Reduced glucocorticoid receptor signaling leads to decreased tissue sensitivity to cortisol and resultant biochemical hypercortisolism without the classic clinical features of Cushing syndrome. Patients variably present with signs and symptoms of mineralocorticoid and androgen excess from ACTH overstimulation of the adrenal cortex.
View Article and Find Full Text PDFMineralocorticoid Effects in Cushing's Disease: A Case Report.
Cureus
December 2024
Internal Medicine, Hospital Beatriz Ângelo, Unidade Local de Saúde de Loures/Odivelas, Loures, PRT.
Cushing's syndrome is a rare disease caused due to prolonged exposure to excess glucocorticoids. Although rare, diagnosing Cushing's syndrome is clinically significant as it allows tailored and timely management and significant reduction or even prevention of the comorbidities caused by cortisol excess. This report delineates the presentation of a 44-year-old female with refractory secondary hypertension and severe hypokalaemia, initially thought to be caused by hyperaldosteronism.
View Article and Find Full Text PDFBackground: Arterial hypertension and left ventricular hypertrophy and remodeling are independent cardiovascular risk factors in patients with Cushing's syndrome. Changes in the renin-angiotensin system and in the mineralocorticoid axis activity could be involved as potential mechanisms in their pathogenesis, in addition to cortisol excess.
Methods: In this ancillary study of our previous study prospectively investigating patients with ACTH-dependent Cushing's syndrome by cardiac magnetic resonance imaging (NCT02202902), 11 patients without any interfering medication were cross-sectionally compared to 20 control subjects matched for age, sex and body mass index.
Decoding Monogenic Hypertension: A Review of Rare Hypertension Disorders.
Am J Hypertens
January 2025
Department of Medicine, College of Medicine, Northeast Ohio Medical University, Rootstown, OH, USA.
Hypertension is a growing concern worldwide, with increasing prevalence rates in both children and adults. Most cases of hypertension are multifactorial, with various genetic, environmental, socioeconomic, and lifestyle influences. However, monogenic hypertension, a blanket term for a group of rare of hypertensive disorders, is caused by single-gene mutations that are typically inherited in an autosomal dominant fashion, and ultimately disrupt normal blood pressure regulation in the kidney or adrenal gland.
View Article and Find Full Text PDFFinerenone in Heart Failure-A Novel Therapeutic Approach.
Int J Mol Sci
December 2024
Department of Microgravity and Translational Regenerative Medicine, Otto von Guericke University, 39106 Magdeburg, Germany.
This review will discuss heart failure, introduce a new drug finerenone, and discuss clinical studies with a focus on its effects on heart failure. Heart failure is a condition or syndrome characterized by an impairment of the pumping ability of the heart, thus no longer keeping up with the demands of the body. There are several types of heart failure; among them are heart failure with reduced ejection fraction, with mildly reduced ejection fraction and with preserved ejection fraction.
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