mvps

PURPOSE/OBJECTIVE(S): Ionizing radiation (IR) exerts both tissue and systemic effects. However, the exact mechanism by which radiation therapy to skin results in local and systemic effects is incompletely defined. Previously our group has reported that IR of tumors results in the generation of the lipid mediator Platelet-activating factor (PAF) which resulted in systemic immunosuppressive effects via activation of regulatory T cells. Since PAF acting on the PAF receptor (PAFR) has been demonstrated to generate high levels of subcellular microvesicle particles (100-1000nm; MVP), and MVP are known to be able to signal systemically, the current studies seek to define whether IR of keratinocyte cells generates MVP, and to define the role of the PAFR in this process...

Cerebrovascular pathologies other than frank infarctions are commonly seen in aged brains. Here, we focus on multi-lumen vascular profiles (MVPs), which are characterized by multiple vessel lumens enclosed in a single vascular channel. Little information exists on the prevalence, risk factors, and co-pathologies of MVPs. Therefore, we used samples and data from the University of Kentucky Alzheimer's Disease Research Center (n = 91), the University of Kentucky Pathology Department (n = 31), and the University of Pittsburgh Pathology Department (n = 4) to study MVPs...

The Micro Vascular Plug® (MVP, Medtronic) is a mechanical embolic agent available in small sizes that allows for distal embolisation. The objective of this retrospective observational single-centre study was to assess MVP embolisation procedures performed at a university hospital. The 33 patients who underwent MVP embolisation in 2021 were included (mean age, 64; 24 males and 9 females). The primary endpoint was technical success, which was defined as a full first-attempt occlusion with one or more MVPs, as documented on the end-of-procedure angiogram...

BACKGROUND: The purpose of this study was to evaluate mitral annular disjunction (MAD) on cardiac magnetic resonance imaging (MRI) in Loeys-Dietz Syndrome (LDS) and to explore its association with adverse outcomes. METHODS: In this retrospective cohort study, adult patients with LDS who underwent cardiac MRI were evaluated for MAD, aortic dimensions, and ventricular volumetry. Aortic events were defined as aortic surgery and/or dissection and severe arrhythmic events as cardiac arrest or sustained ventricular tachycardia (VT)...

BACKGROUND AND PURPOSE: Mitral valve prolapse (MVP) has been associated with an increased risk of ischemic stroke. Older age, thicker mitral leaflets, and significant mitral regurgitation (MR) leading to atrial fibrillation have been traditionally considered risk factors for ischemic stroke in MVP. However, specific risk factors for MVP-stroke subtypes are not well defined. The aim of this study is to evaluate clinical and echocardiographic parameters, including left atrial (LA) function, in MVP with cryptogenic (C) vs...

BACKGROUND: Fatigue is one of the most common symptoms in patients with multiple sclerosis (MS). Furthermore, measuring its effects on patients in daily life is challenging. This study aimed to discover the association between relapsing-remitting MS (RRMS) patients' disability, fatigue, and accelerometer-measured physical activity. METHODS: A total of 41 patients with RRMS with an Expanded Disability Status Scale (EDSS) level of 0-5.5 and 20 healthy controls completed the Modified Fatigue Impact Scale (MFIS) and the Fatigue Severity Scale (FSS) questionnaires...

BACKGROUND: The development of microvascular plugs (MVPs) has enabled novel transcatheter deliverable endoluminal pulmonary flow restrictors (PFRs) with the potential to treat newborns and infants with life-threatening congenital heart diseases (CHDs) in a minimally invasive manner. We present our experience to evaluate the efficacy of this concept in controlling pulmonary blood flow in various CHDs. METHODS: Retrospective clinical data review of patients with CHD and pulmonary over-circulation who received bilateral PFRs percutaneously...

Pectus excavatum (PE) is a congenital malformation with a funnel-shaped depression of the sternum that can lead to cardiac symptoms. However, there are patients with thoracic constriction (defined as elevated Haller-Index > 3.25 determined by cardiac magnetic resonance imaging (CMR)) without visible evidence of PE, leading to similar complaints. Between January 2004 till June 2020, patients who underwent CMR for further evaluation of the heart, due to cardiac symptoms were enrolled and compared to controls...

CTNNB1 [OMIM *116806] encodes β-catenin, an integral part of the cadherin/catenin complex, which functions as effector of Wnt signaling. CTNNB1 is highly expressed in brain as well as in other tissues, including heart. Heterozygous CTNNB1 pathogenic variations are associated with a neurodevelopmental disorder characterized by spastic diplegia and visual defects (NEDSDV) [OMIM #615075], featuring psychomotor delay, intellectual disability, behavioral disturbances, movement disorders, visual defects and subtle facial and somatic features...

Marfan syndrome (MFS) is a rare inherited autosomic disorder, which encompasses a variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene ( FBN1 ). Cardinal clinical phenotypes of MFS are highly variable in terms of severity, and commonly involve cardiovascular, ocular, and musculoskeletal systems with a wide range of manifestations, such as ascending aorta aneurysms and dissection, mitral valve prolapse, ectopia lentis and long bone overgrowth, respectively. Of note, an accurate and prompt diagnosis is pivotal in order to provide the best treatment to the patients as early as possible...

We present the case of a 60-year-old woman, with a history of mitral valve prolapse, who consulted for dyspnea and palpitations of 2 weeks of evolution up to functional class IV. The admission electrocardiogram showed a moderately responsive atrial fibrillation rhythm with frequent ventricular extra systoles. A transthoracic echocardiogram was performed which showed mitral valve prolapse with severe impairment of ventricular function. Barlow syndrome was diagnosed. During hospitalization, the patient presented three episodes of cardiorespiratory arrest that were reversed with advanced cardiopulmonary resuscitation maneuvers...

BACKGROUND: PACS1 neurodevelopmental disorder ( PACS1 -NDD) (MIM# 615009) is a rare autosomal dominant disease characterized by neurodevelopmental delay, dysmorphic facial features, and congenital malformations. Heart disease (HD) is frequently present in individuals with PACS1 -NDD, but a compressive review of these anomalies and an evaluation of cardiac function in a cohort of patients are lacking. METHODS: (i) Cardiac evaluation in 11 PACS1 -NDD patients was conducted using conventional echocardiography...

In this case report, we present 31-year-old twin sisters diagnosed with severe Barlow mitral valve prolapse, mitral annular disjunction and presence of lateral mid-wall fibrosis diagnosed on MRI as well as ventricular arrhythmias, and a very rare variant of Loeys-Dietz syndrome, being referred to our center for surgical repair. Genetic testing detected pathogenic variants of clinical significance in SMAD3 and KCNH2 genes that are associated with autosomal dominant disease of Loeys-Dietz syndrome. Due to the presence of severe mitral valve regurgitation, the first patient was referred for minimally invasive mitral valve repair that was performed successfully...

Mitral valve prolapse (MVP) represents the most frequent cause of primary mitral regurgitation. For several years, biological mechanisms underlying this condition attracted the attention of investigators, trying to identify the pathways responsible for such a peculiar condition. In the last ten years, cardiovascular research has moved from general biological mechanisms to altered molecular pathways activation. Overexpression of TGF-β signaling, for instance, was shown to play a key role in MVP, while angiotensin-II receptor blockade was found to limit MVP progression by acting on the same signaling pathway...

Alu elements are retrotransposons with ubiquitous presence in the human genome that have contributed to human genomic diversity and health. These approximately 300-bp sequences can cause or mediate disease by disrupting coding/splicing regions in the germline, by insertional mutagenesis in somatic cells, and in promoting formation of copy-number variants. Alu elements may also disrupt epigenetic regulation by affecting non-coding regulatory regions. There are increasing reports of apparently sporadic and inherited genetic disorders caused by Alu-related gene disruption, but Marfan syndrome resulting from Alu element insertion has not been previously described...

A 73-year-old woman with a history of aortitis syndrome was referred to our hospital presenting with congestive heart failure caused by acute severe mitral regurgitation due to posterior leaflet prolapse. Upon admission, the patient fell into shock state while undergoing an examination. Medical treatment including mechanical ventilation could not alleviate circulatory collapse, so emergency surgery was performed on the day of admission. Severe calcification of the ascending aorta and severe stenosis or occlusion of the aortic arch vessels resulted from the patient's aortitis syndrome precluded aortic cannulation and aortic clamp...

INTRODUCTION: Non-small cell lung carcinomas (NSCLC) exhibit different microvessel patterns (MVPs). Basal (BA), diffuse (DA) and papillary (PA) patterns show signs of angiogenesis (new blood vessels), while an alveolar pattern indicates that tumors are co-opting existing normal vessels (non-angiogenic alveolar, NAA). NAA tumor growth is known to exist in NSCLC, but little is known about its prognostic impact in different histological subgroups, and about associations between MVPs and immune cell infiltration...

OBJECTIVE: The aim of present study is to compare ventricular and supraventricular arrhythmia incidences in subjects with and without mitral valve prolapse (MVP) syndrome and to examine if an association exists between ventricular arrhythmias and repolarization parameters in patients with MVP syndrome. METHODS: This cross-sectional study involved 41 subjects with MVP Syndrome and 41 subjects with palpitation but without MVP (control group). All subjects were subjected to lead-electrocardiogram, transthoracic echocardiography, and 24-h Holter monitoring to identify repolarization abnormalities, structural abnormalities, and supraventricular and ventricular arrhythmias...

Introduction: AEBP1 -related classical-like EDS (clEDS type 2) is a rare type of Ehlers-Danlos syndrome (EDS) that was first reported in 2016. There are overlapping clinical features with TNXB -related classical-like EDS (or clEDS type 1), including skin hyperextensibility, joint hypermobility, and easy bruising. There are currently nine reported individuals with AEBP1 -related clEDS type 2. This report confirms previous findings and provides additional clinical and molecular data on this group of individuals...

BACKGROUND: Despite recent advances in cardiology, sudden cardiac death remains to be a significant challenge, and the precise cause for a large proportion of sudden cardiac arrests remains unclear. CASE SUMMARY: A 48-year-old fit and healthy medical personnel with no previous medical illness suffered from ventricular fibrillation at his workplace and was successfully resuscitated. Although the basal electrocardiogram did not show a Brugada pattern, we identified mutations in the CACNB2 genes (Chr10: 18150879 and Chr10: 18539538 variants), which are pathogenic variants linked to the Brugada syndrome...