Old and new genes in primary aldosteronism

Publication date: Available online 22 January 2020Source: Best Practice &Research Clinical Endocrinology &MetabolismAuthor(s): Sheerazed Boulkroun, Fabio Luiz Fernandes-Rosa, Maria-Christina ZennaroAbstractPrimary aldosteronism (PA) is the most common form of secondary hypertension affecting 5% to 10% of patients with arterial hypertension. In PA, high blood pressure is associated with high aldosterone and low renin levels, and often hypokalemia. In a majority of cases, autonomous aldosterone production by the adrenal gland is caused by an aldosterone producing adenoma (APA) or bilateral adrenal hyperplasia (BAH). During the last ten years, a better knowledge of the pathophysiology of PA came from the discovery of somatic and germline mutations in different genes in both sporadic and familial forms of the disease. Those genes code for ion channel and pumps, as well as proteins involved in adrenal cortex development and function. Targeted next generation sequencing following immunohistochemistry guided detection of aldosterone synthase expression allows detection of somatic mutations in up to 90% of APA, while whole exome sequencing has discovered the genetic causes of four different familial forms of PA. The identification, in BAH, of somatic mutations in aldosterone producing cell clusters open new perspectives in our understanding of the bilateral form of the disease and the development of new therapeutic approaches.
Source: Best Practice and Research Clinical Endocrinology and Metabolism - Category: Endocrinology Source Type: research

Related Links:

Authors: Boivin JM, Risse J, Laurière E, Burnier M Abstract Purpose: Worldwide, hypertension awareness remains largely insufficient. This is particularly true in some population subgroups with a low socioeconomic status or in young adults who have limited interactions with healthcare systems. Performing Blood Pressure (BP) screening in non-conventional settings, such as in barbershops, has been suggested by a number of American authors. Whether this approach is feasible in Europe or in North Africa has not been evaluated, however. We, therefore, undertook a study to assess the value of BP screening at hairdr...
Source: Blood Pressure - Category: Hematology Tags: Blood Press Source Type: research
Authors: Augstburger E, Héron E, Abanou A, Habas C, Baudouin C, Labbe A Abstract Ischemic optic neuropathies are among the leading causes of severe visual acuity loss in people over 50 years of age. They constitute a set of various entities that are clinically, etiologically and therapeutically different. Anatomically, it is necessary to distinguish anterior and posterior forms. From an etiological point of view, the diagnosis of the arteritic form due to giant cell arteritis requires emergent management to prevent blindness and even death in the absence of prompt corticosteroid treatment. When this diagnosi...
Source: Journal Francais d Ophtalmologie - Category: Opthalmology Tags: J Fr Ophtalmol Source Type: research
Publication date: Available online 15 February 2020Source: Clinica Chimica ActaAuthor(s): Yao-Chang Liu, Jen-Pi Tsai, Li-Hsuan Wang, Ming-Che Lee, Bang-Gee HsuAbstractBackgroundFibroblast growth factor 23 (FGF-23) has a role in arterial stiffness (AS) apart from regulating mineral metabolism. We investigated the association between FGF-23 concentration and peripheral AS in renal transplantation (RT) recipients.MethodsThe fasting blood samples of RT recipients (n=66) were collected and analyzed.ResultsA total of 29 (43.9%) RT recipients were classified under the peripheral AS group. The RT recipients in this group had a hig...
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
We report the case of a female who sought medical help for malabsorptive symptoms and was finally diagnosed with olmesartan-associated gastritis and atrophic enteropathy. PMID: 32054274 [PubMed - as supplied by publisher]
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
Publication date: May 2020Source: Biomedicine &Pharmacotherapy, Volume 125Author(s): Juan Li, Min Jia, Manling Liu, Zhi Cao, Xinju Wang, Na Feng, Xiaoming Gu, Shumiao Zhang, Rong Fan, Haitao Guo, Yuemin Wang, Mingchao Liu, Jianming PeiAbstractκ-opioid receptor (κ-OR) plays a key role in preventing hypoxic pulmonary hypertension (HPH) development after activated by exogenous agonist U50,488H. Calcium sensing receptor (CaSR) activation induces HPH by promoting vasoconstriction and vascular remodeling. The activated κ-OR is reported to inhibit the expression of CaSR in pulmonary artery smooth muscle cell...
Source: Biomedicine and Pharmacotherapy - Category: Drugs & Pharmacology Source Type: research
Publication date: Available online 14 February 2020Source: Journal of Molecular StructureAuthor(s): Jinmiao Zhang, Maoyu Zhang, Jinying Yu, Yanguo Shang, Kaixuan Jiang, Yihe Jia, Jinxin Wang, Kan YangAbstractSphingosine 1-phosphate (S1P) is a lipid signaling molecule that is implicated in a variety of pathologies, including cancer, inflammation and pulmonary arterial hypertension. Sphingosine kinases (SPHK1 and SPHK2) are the key targets in the synthesis of S1P. However, selective and potent inhibitors of SPHK are lacking, especially for SPHK2. In this work, we predicted the detailed interactions between the inhibitors and...
Source: Journal of Molecular Structure - Category: Molecular Biology Source Type: research
Drug firms Unichem Pharmaceuticals and Macleods Pharma are recalling various lots of tablets used for treatment of high blood pressure and diabetes from the US market, according to a latest enforcement report of the American health regulator.
Source: The Economic Times Healthcare and Biotech News - Category: Pharmaceuticals Source Type: news
Authors: Akkemik O, Kazaz H, Tamsel S, Dündar N, Sahinalp S, Ellidokuz H Abstract OBJECTIVE: To evaluate the diagnostic accuracy of digital panoramic radiograph (DPR) for detection of carotid artery calcification (CAC) confirmed by Doppler Ultrasonography (DUSG) and to clarify the relationship between between CAC identified by DPR and cardiovascular events through a 5 year follow-up period. METHODS: Of 3600 consecutive patients examined, 158 patients presented with CAC as detected by DPR. The final study group was composed of 96 patients who had CAC confirmed by DUSG or CT angiogram. The control gro...
Source: Dentomaxillofacial Radiology - Category: Radiology Tags: Dentomaxillofac Radiol Source Type: research
Conclusions: PCV in Congolese patients showed features that are more similar to those observed in Caucasians. In this setting where indocyanine green angiography is not available, OCT facilitates the diagnosis of PCV. PMID: 32051763 [PubMed]
Source: Journal of Ophthalmology - Category: Opthalmology Tags: J Ophthalmol Source Type: research
ACI patients with AR have a higher plasma 4 ‐HNE level, suggesting that 4‐HNE may be a factor contributing to aspirin resistance. And AR has a higher CI recurrence rate compared with the patients without AR. AbstractObjectivesTo investigate the association of aspirin resistance (AR) with the plasma 4 ‐hydroxynonenal (4‐HNE) level and its impact on recurrent cerebral infarction (CI) in patients with acute cerebral infarction (ACI) who were receiving aspirin therapy.MethodsOne hundred and fifty ‐four ACI patients who previously received aspirin therapy (100 mg/day) were enrolled. Whole urine (for measuring 11d...
Source: Brain and Behavior - Category: Neurology Authors: Tags: ORIGINAL RESEARCH Source Type: research
More News: Endocrinology | Genetics | Hypertension