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https://www.readbyqxmd.com/read/28917830/al-awadi-raas-rothschild-syndrome-with-dental-anomalies-and-a-novel-wnt7a-mutation
#1
Piranit Nik Kantaputra, Seema Kapoor, Prashant Verma, Massupa Kaewgahya, Katsushige Kawasaki, Atsushi Ohazama, James R Ketudat Cairns
Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WNT7A function has been shown to cause AARRS, however, its partial loss leads to the milder malformation, Fuhrmann syndrome. An Indian boy affected with AARRS is reported. A novel homozygous base substitution mutation c...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28902380/-organ-interactions-heart-and-kidney
#2
Daniel Salleck, Stefan John
The interactions between heart and kidney are various and of clinical relevance. Worsening of one organ often influences the function of the other. With NYHA and KDIGO we have classification systems for heart and kidney failure and those should be used for cardiorenal systems as well. Furthermore there is a useful classification system for cardiorenal syndromes itself. Cardiorenal syndrome is a complex illness which should be treated by interdisciplinary medical teams. A key roll in pathophysiology is the renin-angiotensin-aldosteron-system (RAAS)...
September 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28900121/dominance-of-the-hypothalamus-pituitary-adrenal-axis-over-the-renin-angiotensin-aldosterone-system-is-a-risk-factor-for-decreased-insulin-secretion
#3
Makoto Daimon, Aya Kamba, Hiroshi Murakami, Satoru Mizushiri, Sho Osonoi, Kota Matsuki, Eri Sato, Jutaro Tanabe, Shinobu Takayasu, Yuki Matsuhashi, Miyuki Yanagimachi, Ken Terui, Kazunori Kageyama, Itoyo Tokuda, Shizuka Kurauchi, Shigeyuki Nakaji
How the association between the hypothalamus-pituitary-adrenal (HPA) axis and the renin-angiotensin-aldosterone system (RAAS) affects glucose metabolism were not well examined in a general population. Participants of the population-based 2015 Iwaki study were enrolled (n: 1,016; age: 54.4 ± 15.1 years). Principal component (PC) analysis identified two PCs: PC1 represented levels of the HPA axis (serum cortisol) and the RAAS (plasma aldosterone) as a whole, and PC2 represented the HPA axis relative to the RAAS (HPA axis dominance)...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28893708/ex-vivo-reconstruction-and-autotransplantation-for-hilar-renal-artery-aneurysms-in-patients-with-congenital-anomalies
#4
Jaiyeola Adeyemi, Jacob Johnson, Yevgeniy Rits, A George Akingba, Jeffrey Rubin
Renal artery aneurysms (RAAs) are an uncommon finding but are more often associated with other congenital disorders. The complex (hilar) RAAs constitute a subset of RAAs that present a therapeutic dilemma for the vascular surgeon; because of their anatomic location. This dilemma worsens when hilar RAAs occur with a solitary kidney where organ preservation is vital. Ex-vivo reconstruction with autotransplantation is especially suitable for hilar RAAs, even when they are associated with a solitary kidney. We report two of such cases of RAA's with a solitary kidney in patients with pertinent congenital anomalies...
September 8, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28883863/the-evolution-of-natriuretic-peptide-augmentation-in-management-of-heart-failure-and-the-role-of-sacubitril-valsartan
#5
Srikanth Yandrapalli, Wilbert S Aronow, Pratik Mondal, David R Chabbott
Heart failure (HF) is one of the leading causes of morbidity, mortality, and health care expenditures in the US and worldwide. For three decades, the pillars of treatment of HF with reduced ejection fraction (HFrEF) were medications that targeted the sympathetic nervous system (SNS) and the renin-angiotensin-aldosterone system (RAAS). Prior attempts to augment the natriuretic peptide system (NPS) for the management of HF failed either due to lack of significant clinical benefit or due to the unacceptable side effect profile...
August 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28875746/plasma-renin-activity-in-patients-with-heart-failure-and-reduced-ejection-fraction-on-optimal-medical-therapy
#6
Petra Nijst, Frederik H Verbrugge, Pieter Martens, Philippe B Bertrand, Matthias Dupont, Gary S Francis, Wh Wilson Tang, Wilfried Mullens
BACKGROUND: Renin-angiotensin-aldosterone system (RAAS) activation in heart failure with reduced ejection fraction (HFREF) is detrimental through promotion of ventricular remodeling and salt and water retention. AIMS: The aims of this article are to describe RAAS activity in distinct HFREF populations and to assess its prognostic impact. METHODS: Venous blood samples were prospectively obtained in 76 healthy volunteers, 72 patients hospitalized for acute decompensated HFREF, and 78 ambulatory chronic HFREF patients without clinical signs of congestion...
July 2017: Journal of the Renin-angiotensin-aldosterone System: JRAAS
https://www.readbyqxmd.com/read/28872358/nocturnal-diastolic-blood-pressure-decline-is-associated-with-higher-25-hydroxyvitamin-d-level-and-standing-plasma-renin-activity-in-a-hypertensive-population
#7
Mingchen Zhang, Xinjuan Xu, Haiming Liu, Haixia Li, Junshi Zhang, Min Gao
Patients with nondipper hypertension are known to carry a high risk of cardiovascular complications. Vitamin D deficiency is associated with hypertension. Because vitamin D deficiency activates the renin-angiotensin-aldosterone system (RAAS), we hypothesized that this vitamin would interact with the RAAS to influence blood pressure (BP) in nondipper hypertensive patients. We performed a cross-sectional analysis of 1,007 outpatients with hypertension (HTN). Dipper and nondipper patterns were detected, and the two groups were matched for clinical, laboratory, 25-hydroxyvitamin D (25OHD) levels, and ambulatory blood pressure recording...
September 5, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28867244/angiotensin-converting-enzyme-inhibitors-versus-angiotensin-ii-receptor-blockers-in-acute-st-segment-elevation-myocardial-infarction-patients-with-diabetes-mellitus-undergoing-percutaneous-coronary-intervention
#8
Se Yeon Choi, Byoung Geol Choi, Seung-Woon Rha, Jae Kyeong Byun, Min Suk Shim, Hu Li, Ahmed Mashaly, Cheol Ung Choi, Chang Gyu Park, Hong Seog Seo, Dong Joo Oh, Myung Ho Jeong
BACKGROUND: Diabetes Mellitus (DM) is an important factor of adverse cardiovascular events in acute ST-segment elevation myocardial infarction (STEMI) patients. Renin-angiotensin-aldosterone system (RAAS) inhibitors is associated with improved clinical outcomes, however, there are limited data comparing the effectiveness of two different RAAS inhibitors in STEMI patients with DM undergoing percutaneous coronary intervention (PCI) with drug-eluting stents (DES). METHODS: A total of 3811 eligible STEMI patients with DM were enrolled in Korea Acute Myocardial Infarction Registry (KAMIR)...
August 12, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28860791/soluble-st2-correlates-with-some-indicators-of-right-ventricular-function-in-hypertensive-heart-failure
#9
Dike B Ojji, Sandrine Lecour, Olusoji M Adeyemi, Karen Sliwa
PURPOSE: ST2 receptor, which is a member of the Toll-like/interleukin-1 (IL-1) receptor family, has been found to be increased in the serum of patients 1 day after myocardial infarction. Several other studies have shown that soluble ST2 levels correlate with severity of heart failure (HF), left ventricular ejection fraction, creatinine clearance, B-type natriuretic peptide and C-reactive protein, and are predictors of mortality in HF. Most of these studies were not only limited to ischemic heart disease but also concentrated on left-sided HF...
2017: Vascular Health and Risk Management
https://www.readbyqxmd.com/read/28855715/santos-syndrome-is-caused-by-mutation-in-the-wnt7a-gene
#10
Leandro U Alves, Silvana Santos, Camila M Musso, Suzana Am Ezquina, John M Opitz, Fernando Kok, Paulo A Otto, Regina C Mingroni-Netto
We have recently described a family with a condition (Santos syndrome (SS; MIM 613005)) characterized by fibular agenesis/hypoplasia, hypoplastic femora and grossly malformed/deformed clubfeet with severe oligodactyly, ungual hypoplasia/anonychia, sometimes associated with mild brachydactyly and occasional pre-axial polydactyly. Autosomal dominant inheritance with incomplete penetrance was suggested, but autosomal recessive inheritance could not be ruled out, due to the high frequency of consanguineous matings in the region where the family lived...
August 31, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28855243/update-on-angiotensin-ii-new-endocrine-connections-between-the-brain-adrenal-glands-and-the-cardiovascular-system
#11
Frans Leenen, Mordecai P Blaustein, John Hamlyn
In the brain, angiotensinergic pathways play a major role in chronic regulation of cardiovascular and electrolyte homeostasis. Increases in plasma angiotensin II (Ang II), aldosterone, [Na+] and cytokines can directly activate these pathways. Chronically, these stimuli also activate a slow neuromodulatory pathway involving local aldosterone, mineralocorticoid receptors (MRs), epithelial sodium channels, and endogenous ouabain (EO). This pathway increases AT1R and NADPH oxidase subunits, and maintains/further increases activity of angiotensinergic pathways...
August 30, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28844335/sacubitril-valsartan-an-important-piece-in-the-therapeutic-puzzle-of-heart-failure
#12
REVIEW
Pedro Marques da Silva, Carlos Aguiar
Sacubitril/valsartan (LCZ696), a supramolecular sodium salt complex of the neprilysin inhibitor prodrug sacubitril and the angiotensin receptor blocker (ARB) valsartan, was recently approved in the EU and the USA for the treatment of chronic heart failure (HF) with reduced ejection fraction (HFrEF) (NYHA class II-IV). Inhibition of chronically activated neurohormonal pathways (the renin-angiotensin-aldosterone system [RAAS] and sympathetic nervous system [SNS]) is central to the treatment of chronic HFrEF. Furthermore, enhancement of the natriuretic peptide (NP) system, with favorable cardiovascular (CV) and renal effects in HF, is a desirable therapeutic goal to complement RAAS and SNS blockade...
August 23, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28837972/excessive-catecholamine-secretion-and-the-activation-of-the-renin-angiotensin-aldosterone-system-in-patients-with-pheochromocytoma-a-single-center-experience-and-overview-of-the-literature
#13
Matthias Haase, Till Dringenberg, Stephanie Allelein, Holger S Willenberg, Matthias Schott
Catecholamines stimulate renin-secretion in the juxtaglomerular cells of the kidney and a number of case reports suggest an association between pheochromocytoma and activation of the RAAS. Therefore, it could be asked whether patients suffering from pheochromocytoma with high concentrations of circulating catecholamines present with oversecretion of renin and aldosterone. We identified twelve patients with excessive catecholamine secretion due to pheochromocytoma and compared them to a group of twelve patients with essential hypertension (EH) with regard to the activation of the renin-angiotensin-aldosterone-system (RAAS)...
August 24, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28822808/bml-111-equilibrated-ace-angii-at1r-and-ace2-ang-1-7-mas-axis-to-protect-hepatic-fibrosis-in-rats
#14
Quandong Hu, Zhenzhen Hu, Qiongfeng Chen, Yonghong Huang, Zi Mao, Fangyun Xu, Xiaoyan Zhou
BACKGROUND: It was recently reported Lipoxins (LXs) had protective effects on fibrous diseases, and renin-angiotensin-aldosterone system (RAAS) had played vital and bidirectional roles in hepatic fibrosis. In this paper, a hepatic fibrosis model, induced by carbon tetrachloride (CCL4) in rats, was used to observe the relations between RAAS and LXs, as well as to further explore the alternative anti-fibrosis mechanisms of LXs. METHODS: The model was evaluated by morphological observations and biochemical assays...
August 16, 2017: Prostaglandins & Other Lipid Mediators
https://www.readbyqxmd.com/read/28808443/angiotensin-converting-enzyme-inhibition-and-parathyroid-hormone-secretion
#15
Sarah Zaheer, Jenifer M Brown, Molly Connors, Jonathan S Williams, Gail K Adler, Anand Vaidya
BACKGROUND: Prior studies suggest that renin-angiotensin-aldosterone system (RAAS) inhibitors decrease parathyroid hormone (PTH) secretion. OBJECTIVE: To evaluate the effect of angiotensin-converting enzyme inhibitors (ACEi) on serum PTH in participants with and without primary hyperparathyroidism (P-HPT). METHODS: An open-label, single-arm, pilot study whereby participants with and without P-HPT had PTH were evaluated before and after 1 week of maximally tolerated lisinopril therapy...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28805480/current-evidence-on-the-use-of-anti-raas-agents-in-congenital-or-acquired-solitary-kidney
#16
Mariadelina Simeoni, Annarita Armeni, Chiara Summaria, Annamaria Cerantonio, Giorgio Fuiano
RATIONAL: The inhibition of renin-angiotensin-aldosterone system (RAAS) is a major strategy for slowing the progression of chronic kidney disease (CKD). The utility of anti-RAAS agents in patients with congenital or acquired solitary kidney is still controversial. OBJECTIVE: A systematic literature review was conducted. MAIN FINDINGS: The conclusions of the few available studies on the topic are homogeneously in agreement with a long-term reno-protective activity of anti-RAAS drugs in patients with solitary kidney, especially if patients are hypertensive or proteinuric...
November 2017: Renal Failure
https://www.readbyqxmd.com/read/28791952/novel-strategies-for-treatment-of-pulmonary-arterial-hypertension
#17
REVIEW
Magdalena Jasińska-Stroschein, Daria Orszulak-Michalak
Pulmonary hypertension (PH) is a rare disorder associated with abnormally elevated pulmonary pressures that, if untreated, leads to right heart failure and premature death. Special population include patents with pulmonary arterial hypertension (PAH). A greater understanding of the epidemiology, pathogenesis, and pathophysiology of PAH has led to significant advances over the past few years. Modern drug therapy provides a significant improvement in patient symptomatic status and a slower rate of clinical deterioration...
July 11, 2017: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28791529/effects-of-raas-inhibitors-in-patients-with-kidney-disease
#18
REVIEW
Fan Zhang, Hong Liu, Di Liu, Yexin Liu, Huiqiong Li, Xia Tan, Fuyou Liu, Youming Peng, Hongqing Zhang
Proteinuria and decline of renal function are associated with progression of kidney disease. The Renin Angiotensin Aldosterone System (RAAS) plays an important role in blood pressure regulation, fluid volume, and sodium balance. Overactivity of RAAS contributes to the pathogenesis of a variety of clinical conditions including progress of chronic kidney disease (CKD). This review summarizes the use of RAAS inhibitors as dual therapy or monotherapy in different stages of kidney disease. Experimental and clinical studies have demonstrated RAAS inhibitors prevent proteinuria, kidney fibrosis and slow decline of renal function and thus play a protective role in both early and end stages of kidney disease...
August 8, 2017: Current Hypertension Reports
https://www.readbyqxmd.com/read/28777485/pls3-deletions-lead-to-severe-spinal-osteoporosis-and-disturbed-bone-matrix-mineralization
#19
Anders J Kämpe, Alice Costantini, Yael Levy-Shraga, Leonid Zeitlin, Paul Roschger, Fulya Taylan, Anna Lindstrand, Eleftherios P Paschalis, Sonja Gamsjaeger, Annick Raas-Rothschild, Matthias Hövel, Hong Jiao, Klaus Klaushofer, Corinna Grasemann, Outi Mäkitie
Mutations in the PLS3 gene, encoding Plastin 3, were described in 2013 as a cause for X-linked primary bone fragility in children. The specific role of PLS3 in bone metabolism remains inadequately understood. Here we describe for the first time PLS3 deletions as the underlying cause for childhood-onset primary osteoporosis in 3 boys from 2 families. We carried out thorough clinical, radiological, and bone tissue analyses to explore the consequences of these deletions and to further elucidate the role of PLS3 in bone homeostasis...
August 4, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28772209/renin-angiotensin-aldosterone-raas-the-ubiquitous-system-for-homeostasis-and-pathologies
#20
Seema Patel, Abdur Rauf, Haroon Khan, Tareq Abu-Izneid
Renin-angiotensin-aldosterone system (RAAS) is a vital system of human body, as it maintains plasma sodium concentration, arterial blood pressure and extracellular volume. Kidney-secreted renin enzyme acts on its substrate to form angiotensin II, a versatile effector peptide hormone. Every organ is affected by RAAS activation and the resultant hypertension, cell proliferation, inflammation, and fibrosis. The imbalance of renin and angiotensin II can result in an overwhelming number of chronic and acute diseases...
July 31, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
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