Case report: Antidromic atrioventricular reentrant tachycardia and underlying Ebstein anomaly.

Multiple accessory pathways (APs) can develop in patients with Ebstein anomaly. Rarely, these APs can participate in antidromic atrioventricular reentrant tachycardia (AVRT) which can be life-threatening and requires unique considerations for acute management and ultimate ablation. These considerations are discussed herein.

Evolutionary conservation of the fidelity of transcription.

Accurate transcription is required for the faithful expression of genetic information. However, relatively little is known about the molecular mechanisms that control the fidelity of transcription, or the conservation of these mechanisms across the tree of life. To address these issues, we measured the error rate of transcription in five organisms of increasing complexity and found that the error rate of RNA polymerase II ranges from 2.

A Unique Case of Central Line Fracture Due to Laser Lead Extraction.

Transvenous laser-assisted lead extraction is successful, with a low procedural complication rate for a wide range of indications. Here, we report a case of right internal jugular triple-lumen central venous catheter fracture and subsequent embolism to the right pulmonary artery during laser lead extraction that was successfully retrieved with a gooseneck snare. ().

OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.

Patients with primary mitochondrial oxidative phosphorylation (OxPhos) defects present with fatigue and multi-system disorders, are often lean, and die prematurely, but the mechanistic basis for this clinical picture remains unclear. By integrating data from 17 cohorts of patients with mitochondrial diseases (n = 690) we find evidence that these disorders increase resting energy expenditure, a state termed hypermetabolism. We examine this phenomenon longitudinally in patient-derived fibroblasts from multiple donors.

Clinical Discordance in Monozygotic Twins With Autism Spectrum Disorder.

There is a significant concordance of autism spectrum disorder in monozygotic (MZ) twins, where behavioral manifestations are heavily influenced by genetic factors. We describe a case of male monozygotic twins with autism spectrum disorder (ASD), raised in the same household, that present with different clinical manifestations. One of the twins presents with intermittent frank syncopal episodes, sinus bradycardia, and elevated alkaline phosphatase (ALP), while the other has symptoms of attention-deficit/hyperactivity disorder (ADHD), normal cardiological findings, and normal ALP level.

Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression.

Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral disturbances. Biopsied muscle studies demonstrated deficient cytochrome c oxidase activities consistent with a mitochondrial disease.

Supraventricular Tachycardia and Postural Orthostatic Tachycardia Syndrome Overlap: A Retrospective Study.

Postural orthostatic tachycardia syndrome (POTS) and supraventricular tachycardia (SVT) are disease states with distinctive features but overlapping clinical manifestations. Currently, studies on the presence of underlying SVT in patients with POTS are lacking. This retrospective study analyzed 64 patients [mean age: 43 years; 41 (61%) women] who had a POTS diagnosis and were found to have concomitant SVT during rhythm monitoring from September 1, 2013 to September 30, 2019 at our Syncope and Autonomic Disorders Clinic.

Right Ventricular Dysfunction and Short-Term Outcomes Following Left-Sided Valvular Surgery: An Echocardiographic Study.

Background The prognostic value of echocardiographic evaluation of right ventricular (RV) function in patients undergoing left-sided valvular surgery has not been well described. The objective of this study is to determine the role of broad echocardiographic assessment of RV function in predicting short-term outcomes after valvular surgery. Methods and Results Preoperative echocardiographic data, perioperative adverse outcomes, and 30-day mortality were analyzed in patients who underwent left-sided valvular surgery from 2006 to 2014.

Paclitaxel coated balloon fibroplasty: A more effective treatment for chronic symptomatic lead/catheter related central venous obstruction?

Central venous occlusion is a common complication following transvenous lead or therapeutic catheter placement that can present either acutely or chronically.

Genome-wide surveillance of transcription errors in response to genotoxic stress.

Mutagenic compounds are a potent source of human disease. By inducing genetic instability, they can accelerate the evolution of human cancers or lead to the development of genetically inherited diseases. Here, we show that in addition to genetic mutations, mutagens are also a powerful source of transcription errors.

Ivabradine in children with postural orthostatic tachycardia syndrome: a retrospective study.

Background: Ivabradine is a unique medication that reduces the intrinsic heart rate by specifically blocking the inward funny current that controls the pacemaker activity of the sinus node. We conducted a retrospective cohort study to assess the efficacy of ivabradine in children suffering from postural orthostatic tachycardia syndrome.

Methods: A chart review was conducted of patients less than 18 years of age who were diagnosed with postural orthostatic tachycardia syndrome who had received ivabradine as treatment from January 2015 to February 2019 at our institution.

BK () Channel Regulates Mitochondrial Function and Lifespan in .

BK channels, originally discovered in as (), are recognized for their roles in cellular and organ physiology. Pharmacological approaches implicated BK channels in cellular and organ protection possibly for their ability to modulate mitochondrial function. However, the direct role of BK channels in regulating mitochondrial structure and function is not deciphered.

Mitochondrial DNA Variation Dictates Expressivity and Progression of Nuclear DNA Mutations Causing Cardiomyopathy.

Nuclear-encoded mutations causing metabolic and degenerative diseases have highly variable expressivity. Patients sharing the homozygous mutation (c.523delC) in the adenine nucleotide translocator 1 gene (SLC25A4, ANT1) develop cardiomyopathy that varies from slowly progressive to fulminant.

Protein coding mitochondrial-targeted RNAs rescue mitochondrial disease in vivo.

Mitochondrial encephalomyopathies (MEs) result from mutations in mitochondrial genes critical to oxidative phosphorylation. Severe and untreatable ME results from mutations affecting each endogenous mitochondrial encoded gene, including all 13 established protein coding genes. Effective techniques to manipulate mitochondrial genome are limited and targeted mitochondrial protein expression is currently unavailable.

Loss of Drosophila FMRP leads to alterations in energy metabolism and mitochondrial function.

Fragile X Syndrome (FXS), the most prevalent form of inherited intellectual disability and the foremost monogenetic cause of autism, is caused by loss of expression of the FMR1 gene . Here, we show that dfmr1 modulates the global metabolome in Drosophila. Despite our previous discovery of increased brain insulin signaling, our results indicate that dfmr1 mutants have reduced carbohydrate and lipid stores and are hypersensitive to starvation stress.

The Impact of De-escalation of Antianginal Medications on Health Status After Percutaneous Coronary Intervention.

Background: Antianginal medications (AAMs) can be perceived to be less important after percutaneous coronary intervention (PCI) and may be de-escalated after revascularization. We examined the frequency of AAM de-escalation at discharge post-PCI and its association with follow-up health status.

Methods And Results: In a 10-center PCI registry, the Seattle Angina Questionnaire was assessed before and 6 months post-PCI.

Nonbacterial thrombotic endocarditis involving both the tricuspid and aortic valves.

A 71-year-old male presented after sudden onset of confusion and expressive aphasia. MRI head revealed multiple ischemic lesions consistent with cardio-embolic pathophysiology. A computed tomography angiography of lung showed peripheral pulmonary emboli.

Predictors of Physician Under-Recognition of Angina in Outpatients With Stable Coronary Artery Disease.

Background: Under-recognition of angina by physicians may result in undertreatment with revascularization or medications that could improve patients' quality of life. We sought to describe characteristics associated with under-recognition of patients' angina.

Methods And Results: Patients with coronary disease from 25 US cardiology outpatient practices completed the Seattle Angina Questionnaire before their clinic visit, quantifying their frequency of angina during the previous month.

Atypical Presentation of C. Difficile Infection: Report of a Case with Literature Review.

Clostridium difficile (C. difficile) is a gram-positive, obligate, anaerobic spore-forming bacillus first reported by Hall and O'Toole in 1935. It occurs mostly after antibiotic use and invariably presents with watery diarrhea.

Cost of surviving sepsis: a novel model of recovery from sepsis in Drosophila melanogaster.

Background: Multiple organ failure, wasting, increased morbidity, and mortality following acute illness complicates the health span of patients surviving sepsis. Persistent inflammation has been implicated, and it is proposed that insulin signaling contributes to persistent inflammatory signaling during the recovery phase after sepsis. However, mechanisms are unknown and suitable pre-clinical models are lacking.

Genetically encoded redox sensors.

Endogenous redox sensors detect fluctuations in the intracellular redox equilibrium and are critical for the maintenance of homeostasis. Such systems have been exploited to engineer genetically encoded redox sensors to detect dynamic oxidative changes within a cellular environment. Most genetically encoded redox sensors detect reactive oxygen species (ROS) such as superoxide anion, hydrogen peroxide and hydroxyl radical.