Case Report: Filamin C gene mutation associated with restrictive cardiomyopathy leading to heart transplantation.

Background: Cardiomyopathy is a disease that affects the myocardium and can be classified as dilated, restrictive, or hypertrophic cardiomyopathy. Among the subtypes, restrictive cardiomyopathy is characterized by restriction of ventricular filling and its uncommon cause is a disease due to mutation on Filamin C (FLNC) gene. Filamin C is an actin-binding protein encoded by FLNC gene and participates in sarcomere stability maintenance, which is expressed on the striated muscle.

Are telocytes related to maintenance of vascular homeostasis in normal and pathological aorta?

The telocyte (TC) is a new interstitial cell type described in a wide variety of organs and loose connective tissues around small vessels, but its presence in large arteries remains unexplored. TCs have small cell bodies and remarkably thin, long, moniliform processes called telopods (Tps). Using transmission electron microscopy and immunofluorescence, we identified TCs in normal human thoracic aortas and in those with aneurysm or acute dissection (TAAD).

Cardiac Autonomic Nervous System Remodeling May Play a Role in Atrial Fibrillation: A Study of the Autonomic Nervous System and Myocardial Receptors.

Background: The primary factors that originate and perpetuate atrial fibrillation (AF) are electrical and anatomical substrate alterations. However, the central mechanisms governing AF perpetuation have not been elucidated yet, which is reflected on the modest results of the treatment in patients with long persistent AF.

Objective: To evaluate if human intrinsic cardiac autonomic nervous system (ICANS) remodeling, including nervous system fibers and muscarinic and β-adrenergic receptors, play a role in permanent AF.

Mitochondria in aneurysms and dissections of the human ascending aorta.

Factors causing the weakness that underlies thoracic aorta aneurysms and dissections are not well known. Based on the findings of apoptosis and ischemic-like necrosis, we hypothesized a possible role for mitochondrial disturbances in the pathogenesis of these diseases. To evaluate if mitochondria at the aortic medial layer are damaged, samples of ascending aortas with aneurysms (n = 6), acute dissections (n = 5), and hypertensive (n = 9) and normotensive controls (n = 7) were analyzed by transmission electron microscopy.

A New Experimental Device for Transapical Access of the Aortic and Mitral Valves as well as the Aorta in its Various Segments.

Objective:: To present the results of a new experimental device developed to facilitate the transapical access in endovascular treatment of structural heart diseases. It aims to reduce the risk of bleeding and complications in this type of access and demonstrate the device as a safe, fast and effective alternative.

Methods:: CorPoint is composed of three parts: introducer, base with coiled spring, and closing capsule.

Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy: A Randomized Clinical Trial.

Importance: In Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), interventions reducing the progression of myocardial disease could affect survival.

Objective: To assess the effect of early angiotensin-converting enzyme (ACE) inhibitor therapy in patients with normal left ventricular function on the progression of myocardial fibrosis (MF) identified on cardiovascular magnetic resonance (CMR).

Design, Setting, And Participants: A randomized clinical trial conducted in 2 centers included 76 male patients with DMD or BMD undergoing 2 CMR studies with a 2-year interval for ventricular function and MF assessment.

Absence of mycobacterial DNA in peripheral blood and artery specimens in patients with Takayasu arteritis.

The objective of this study was to demonstrate the presence of mycobacterial nucleic acid sequences in peripheral blood and arteries from patients with Takayasu arteritis (TA). Polymerase chain reaction was performed to detect mycobacterial DNA from three different nucleic acid sequences including the insertion sequence (IS) 6110, the 65-kDa heat shock protein gene (HSP65), and the 16S ribosomal RNA (rRNA) gene in peripheral blood from 32 TA patients and in arterial specimens from 10 TA patients. Twenty-eight HIV-negative patients with pulmonary tuberculosis prior to therapy were tested for IS6110 in peripheral blood as positive controls, and 24 blood donors were evaluated as healthy controls (HC).

Transforming growth factor-β1 SMAD effectors and medial cell number in ascending aorta diseases.

In ascending aorta aneurysms and dissections, the extracellular matrix is degraded. Transforming growth factor (TGF)-β1 modulates its synthesis. The production and presence of SMADs, intracellular effectors of TGF-β1 signaling, were analyzed in patients with these diseases.

Effect of hypertonic saline treatment on the inflammatory response after hydrochloric acid-induced lung injury in pigs.

Objectives: Hypertonic saline has been proposed to modulate the inflammatory cascade in certain experimental conditions, including pulmonary inflammation caused by inhaled gastric contents. The present study aimed to assess the potential anti-inflammatory effects of administering a single intravenous dose of 7.5% hypertonic saline in an experimental model of acute lung injury induced by hydrochloric acid.