The relationship between symptoms and regurgitant severity in primary mitral regurgitation: a cardiovascular magnetic resonance study.

In the ACC/AHA guidelines, the presence of symptoms plays a central role in determining timing surgery in primary mitral regurgitation (MR). Studies have shown a disconnect between the severity of MR and symptoms. The purpose of this study is to assess risk factors for symptoms in patients with chronic primary MR.

A Semi-Automated, High-Throughput Approach for the Synthesis and Identification of Highly Photo-Cytotoxic Iridium Complexes.

The discovery of new compounds with pharmacological properties is usually a lengthy, laborious and expensive process. Thus, there is increasing interest in developing workflows that allow for the rapid synthesis and evaluation of libraries of compounds with the aim of identifying leads for further drug development. Herein, we apply combinatorial synthesis to build a library of 90 iridium(III) complexes (81 of which are new) over two synthesise-and-test cycles, with the aim of identifying potential agents for photodynamic therapy.

Mitral Regurgitation: Advanced Imaging Parameters and Changing Treatment Landscape.

Mitral regurgitation is a common valvular heart disease with increasing prevalence due to the aging population. In degenerative (primary) mitral regurgitation, medical therapies are limited and the mainstay of treatment is mitral valve surgery. Patients are referred for mitral valve surgery based on the American College of Cardiology/American Heart Association guidelines, which recommend surgery in patients with severe mitral regurgitation.

The digital repression of social movements, protest, and activism: A synthetic review.

Repression research examines the causes and consequences of actions or policies that are meant to, or actually do, raise the costs of activism, protest, and/or social movement activity. The rise of digital and social media has brought substantial increases in attention to the repression of digital activists and movements and/or to the use of digital tools in repression, which is spread across many disciplines and areas of study. We organize and review this growing welter of research under the concept of digital repression by expanding a typology that distinguishes actions based on actor type, whether actions are overt or covert, and whether behaviors are shaped by coercion or channeling.

Tailored Pyridoxal Probes Unravel Novel Cofactor-Dependent Targets and Antibiotic Hits in Critical Bacterial Pathogens.

Unprecedented bacterial targets are urgently needed to overcome the resistance crisis. Herein we systematically mine pyridoxal phosphate-dependent enzymes (PLP-DEs) in bacteria to focus on a target class which is involved in crucial metabolic processes. For this, we tailored eight pyridoxal (PL) probes bearing modifications at various positions.

Social scientists' testimony before Congress in the United States between 1946-2016, trends from a new dataset.

Congressional hearings are a venue in which social scientists present their views and analyses before lawmakers in the United States, however quantitative data on their representation has been lacking. We present new, publicly available, data on the rates at which anthropologists, economists, political scientists, psychologists, and sociologists appeared before United States congressional hearings from 1946 through 2016. We show that social scientists were present at some 10,347 hearings and testified 15,506 times.

Discrimination of DNA Methylation Signal from Background Variation for Clinical Diagnostics.

Advances in the study of human DNA methylation variation offer a new avenue for the translation of epigenetic research results to clinical applications. Although current approaches to methylome analysis have been helpful in revealing an epigenetic influence in major human diseases, this type of analysis has proven inadequate for the translation of these advances to clinical diagnostics. As in any clinical test, the use of a methylation signal for diagnostic purposes requires the estimation of an optimal cutoff value for the signal, which is necessary to discriminate a signal induced by a disease state from natural background variation.

A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?

Next-generation sequencing refers to a high-throughput technology that determines the nucleic acid sequences and identifies variants in a sample. The technology has been introduced into clinical laboratory testing and produces test results for precision medicine. Since next-generation sequencing is relatively new, graduate students, medical students, pathology residents, and other physicians may benefit from a primer to provide a foundation about basic next-generation sequencing methods and applications, as well as specific examples where it has had diagnostic and prognostic utility.

Examination of the Addictive and Behavioral Properties of Fatty Acid-Binding Protein Inhibitor SBFI26.

The therapeutic properties of cannabinoids have been well demonstrated but are overshadowed by such adverse effects as cognitive and motor dysfunction, as well as their potential for addiction. Recent research on the natural lipid ligands of cannabinoid receptors, also known as endocannabinoids, has shed light on the mechanisms of intracellular transport of the endocannabinoid anandamide by fatty acid-binding proteins (FABPs) and subsequent catabolism by fatty acid amide hydrolase. These findings facilitated the recent development of SBFI26, a pharmacological inhibitor of epidermal- and brain-specific FABP5 and FABP7, which effectively increases anandamide signaling.

Fatty acid binding protein deletion suppresses inflammatory pain through endocannabinoid/N-acylethanolamine-dependent mechanisms.

Background: Fatty acid binding proteins (FABPs) serve as intracellular carriers that deliver endocannabinoids and N-acylethanolamines to their catabolic enzymes. Inhibition of FABPs reduces endocannabinoid transport and catabolism in cells and FABP inhibitors produce antinociceptive and anti-inflammatory effects in mice. Potential analgesic effects in mice lacking FABPs, however, have not been tested.

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.

Aarskog-Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog-Scott syndrome in male dizygotic twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene.

Strategies and outcomes of cardiac surgery in Jehovah's Witnesses.

Background: Jehovah's Witnesses (JW) are a Christian faith, with an estimated 1.1 million members in the United States, well recognized for their refusal of blood and blood products. JW may not be considered for cardiac surgery due to perceived higher risks of morbidity and mortality.

Improving patient care in cardiac surgery using Toyota production system based methodology.

Background: A new cardiac surgery program was developed in a community hospital setting using the operational excellence (OE) method, which is based on the principles of the Toyota production system. The initial results of the first 409 heart operations, performed over the 28 months between March 1, 2008, and June 30, 2010, are presented.

Methods: Operational excellence methodology was taught to the cardiac surgery team.

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.

We report the case of a 15-year-old girl who presented to a pediatric endocrinology clinic for delayed puberty with no signs of secondary sexual development. Her past medical history was significant for bilateral colobomas, inner-ear anomalies, hearing loss, and anosmia. Genetic testing revealed a novel de novo mutation in the CHD7 gene, one of the causative genes in CHARGE syndrome (coloboma, heart disease, choanal atresia, retarded growth and development and/or central nervous system anomalies, genital anomalies and/or hypogonadism, and ear anomalies and/or deafness).

Acute aortic valve rupture secondary to blunt chest trauma.

Cardiac valve injury after blunt chest trauma is rare. We present a case of blunt chest trauma resulting in an isolated aortic valve rupture treated with aortic valve replacement.

Preoperative statin is associated with decreased operative mortality in high risk coronary artery bypass patients.

Background: Statins are widely prescribed to patients with atherosclerosis. A retrospective database analysis was used to examine the role of preoperative statin use in hospital mortality, for patients undergoing isolated coronary artery bypass grafting (CABG.)

Methods: The study population comprised 2377 patients who had isolated CABG at Allegheny General Hospital between 2000 and 2004.

Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication.

We report a girl with a de novo pure partial trisomy 21 with some clinical features of Down syndrome. The girl patient presented a flat broad face, brachycephaly, and a flat nasal bridge. She also had upwardly slanted palpebral fissures, epicanthal folds, blepharitis, brushfield spots, and strabismus.

Prenatal molecular diagnosis of tuberous sclerosis complex.

Objective: The objective of the study was to report experience with prenatal molecular diagnosis of tuberous sclerosis complex (TSC).

Study Design: Sequential deoxyribonucleic acid (DNA) studies were performed on amniotic fluid cells and chorionic villi from 50 pregnant women at risk for having a child with TSC. Mutations were determined by gene sequencing and deletion/duplication analysis of the 2 TSC genes.

A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations.

We present clinical and developmental data on a patient with a de novo recombinant pseudodicentric bisatellited chromosome 22 associated with a partial trisomy 22pter-22q12.1. The patient was evaluated at birth and followed-up until 21 years of age.

Effect of glucagon-like peptide-1 (GLP-1) on glycemic control and left ventricular function in patients undergoing coronary artery bypass grafting.

Increasing evidence suggests that tight glycemic control improves clinical outcomes after coronary artery bypass grafting (CABG). However, the risk for hypoglycemia with insulin often results in less aggressive glycemic control. Glucagon-like peptide-1 (GLP-1) is a naturally occurring peptide whose insulinotropic effects are predicated on the glucose concentration, minimizing the risk for hypoglycemia.

Significant hypoglycemia secondary to icodextrin peritoneal dialysate in a diabetic patient.

Icodextrin, a peritoneal dialysate commonly used in the renal failure patient with diabetes, may lead to an overestimation of blood glucose levels as determined by bedside glucometers. This spurious hyperglycemia can lead to significant morbidity if unrecognized. We describe a case of severe hypoglycemia caused by an unappreciated overestimation of blood glucose in a diabetic patient with concomitant chronic renal failure requiring peritoneal dialysis with icodextrin.

Adherence of Irish general practitioners to European guidelines for acute low back pain: a prospective pilot study.

There are no national low back pain (LBP) clinical guidelines in Ireland, and neither the level of adherence of General Practitioners (GPs) to the European guidelines, nor the cost of LBP to the patient and the state, have been investigated. A prospective pilot study was conducted on 54 consenting patients (18M, 36F: mean age (SD): 40.5 (14.

Gene sequencing in neonates and infants with the long QT syndrome.

The objective was to analyze the clinical and molecular findings in a cohort of neonates and infants with the autosomal dominant long QT syndrome (LQTS). Those affected face a high risk of ventricular arrhythmia resulting in syncope, seizure or sudden death. Blood samples submitted for molecular diagnostic studies on 7 infants were subject to DNA extraction and mutation analysis of 18 selected exons in 5 LQTS genes (KCNQ1, HERG, SCN5A, KCNE1, and KCNE2).