Familial pulmonary arterial hypertension by KDR heterozygous loss of function
Beyond the major gene BMPR2, several new genes predisposing to PAH have been identified during the last decade. Recently, preliminary evidence of the involvement of the KDR gene was found in a large genetic association study. We prospectively analysed the KDR gene by targeted panel sequencing in a series of 311 PAH patients referred to a clinical molecular laboratory for genetic diagnosis of PAH. Two index cases with severe PAH from two different families were found to carry a loss-of-function mutation in the KDR gene. These two index cases were clinically characterised by low diffusing capacity for carbon monoxide adjusted for haemoglobin (DLCOc) and interstitial lung disease. In one family, segregation analysis revealed that variant carriers are either presenting with PAH associated with low DLCOc, or have only decreased DLCOc, whereas non-carrier relatives have normal DLCOc. In the second family, a single affected carrier was alive. His carrier mother was unaffected with normal DLCOc. We provided genetic evidence for considering KDR as a newly identified PAH-causing gene by describing the segregation of KDR mutations with PAH in two families. In our study, KDR mutations are associated with a particular form of PAH characterised by low DLCOc and radiological evidence of parenchymal lung disease including interstitial lung disease and emphysema.
Conclusion: The prevalence of self-reported hypertension increased significantly in the study period. Considering this disease ’ s impact on society, knowing its current prevalence and identifying its main associated factors, the need to intensify the efforts to prevent it disease is evident in order to mitigate damage to individuals and impact on public expenditure.
Conclusion: Worst indicators among women receiving BF reflect social inequalities inherent in this most vulnerable group. The study also shows that BF is being targeted at the most vulnerabl e women.
RESUMO: Objetivos: Identificar a preval ência da doença renal crônica (DRC) autorreferida no Brasil e caracterizar os fatores associados a essa enfermidade. Métodos: Trata-se de um inquérito epidemiológico de base domiciliar, a Pesquisa Nacional de Saúde (PNS) realizada em 2013. O desfecho analisado foi a prevalência de DRC. Os grupos de variáveis explicativas foram: características sociodemográficas, estilos de vida, doenças crônicas autorreferidas, antropometria e avaliação de saúde. Foram estimadas as prevalê...
Conditions: Carbon Monoxide Poisoning; Myocardial Injury; Image, Body Intervention: Diagnostic Test: Cardiac MRI Sponsors: Wonju Severance Christian Hospital; National Research Foundation of Korea Completed
Conditions: Aortic Stenosis; Hypertension Intervention: Device: Biological prosthesis in the aortc valve Sponsor: Haukeland University Hospital Completed
A new study sheds light on the frequency and reproducibility of white coat and masked uncontrolled hypertension.European Heart Journal
High blood pressure may double the risk of death from coronavirus.
Authors: Mir AS, Sorrentino D Abstract With the increasing incidence and prevalence of IBD, its complications and associated morbidity also continue to rise. One of these is non-cirrhotic portal hypertension. There is an increasing need of recognizing and understanding the pathophysiology of this condition in the clinical setting of IBD, especially in long standing cases. Due to multiple potential factors, patients with IBD appear to be at a higher risk of developing portal hypertension even in the absence of liver cirrhosis. Portal hypertension is usually diagnosed when complications (such as ascites, variceal ble...
CONCLUSIONS: SARS-Cov-2 has emerged as a worldwide threat, currently affecting 170 countries and territories across the globe. There is still much to be understood regarding SARS-CoV-2 about its virology, epidemiology and clinical management strategies; this knowledge will be essential to both manage the current pandemic and to conceive comprehensive measures to prevent such outbreaks in the future. PMID: 32495923 [PubMed - in process]
Pulmonary hypertension (PH) in the context of chronic lung disease (i.e. group 3 PH) is an ongoing and unresolved challenge. Looking specifically into precapillary PH, it is evident that its presence in chronic lung disease is associated with increased dyspnoea, reduced exercise tolerance, worsened oxygenation, low diffusion capacity of the lung for carbon monoxide (DLCO) and dismal prognosis. Noteably, pulmonary vascular disease is known to negatively impact clinical outcomes in chronic lung disease, even though the definition of precapillary PH may not yet be fulfilled . Vice versa, the presence of mild or subclinical...