Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.

Purpose: Hardikar syndrome (HS, MIM #301068) is a female-specific multiple congenital anomaly syndrome characterized by retinopathy, orofacial clefting, aortic coarctation, biliary dysgenesis, genitourinary malformations, and intestinal malrotation. We previously showed that heterozygous nonsense and frameshift variants in MED12 cause HS. The phenotypic spectrum of disease and the mechanism by which MED12 variants cause disease is unknown.

The inverse problem for cardiac arrhythmias.

A cardiac arrhythmia is an abnormality in the rate or rhythm of the heart beat. We study a type of arrhythmia called a premature ventricular complex (PVC), which is typically benign, but in rare cases can lead to more serious arrhythmias or heart failure. There are three known mechanisms for PVCs: reentry, an ectopic focus, and triggered activity.

Ventricular Tachycardia Due to Triggered Activity: Role of Early and Delayed Afterdepolarizations.

Most forms of sustained ventricular tachycardia (VT) are caused by re-entry, resulting from altered myocardial conduction and refractoriness secondary to underlying structural heart disease. In contrast, VT caused by triggered activity (TA) is unrelated to an abnormal structural substrate and is often caused by molecular defects affecting ion channel function or regulation of intracellular calcium cycling. This review summarizes the cellular and molecular bases underlying TA and exemplifies their clinical relevance with selective representative scenarios.

The incidence of reoperation for pseudarthrosis after cervical spine surgery.

Introduction: Pseudarthrosis after cervical spine surgery represents an underreported and challenging complication. Using a large multi-center surgical database, we sought to: (1) report the incidence of cervical pseudarthrosis, (2) evaluate changes in rates of cervical pseudarthrosis, and (3) describe risk factors for suboptimal outcomes after cervical pseudarthrosis surgery.

Methods: The American College of Surgeons National Surgical Quality Improvement Program database from 2012 to 2019 was used.

Effect of a single one-hour teaching session about environmental pollutants and climate change on the understanding and behavioral choices of adolescents: The BREATHE pilot randomized controlled trial.

Background: Despite the wealth of scientific information on the health effects of air pollution, the adult public's lifestyle continues to be largely detrimental towards the environment.

Objective: The purpose of the study was to determine whether a short interactive teaching session on air pollution could shift reported behavioral choices of adolescents towards environmentally friendlier options.

Methods: We performed a pilot randomized control trial in which eighth-grade students were randomized to receive a one-hour script-based teaching on either the effects of air pollution on lung health (intervention group) or the role of vaccination in public health (active control group).

Kynurenine pathway metabolism evolves with development of preclinical and scleroderma-associated pulmonary arterial hypertension.

Understanding metabolic evolution underlying pulmonary arterial hypertension (PAH) development may clarify pathobiology and reveal disease-specific biomarkers. Patients with systemic sclerosis (SSc) are regularly surveilled for PAH, presenting an opportunity to examine metabolic change as disease develops in an at-risk cohort. We performed mass spectrometry-based metabolomics on longitudinal serum samples collected before and near SSc-PAH diagnosis, compared with time-matched SSc subjects without PAH, in a SSc surveillance cohort.

The Psychiatric Patient's Right to Effective Treatment: Implications of .

Although never reached final court adjudication, the case generated widespread discussion in psychiatric, legal, and lay circles. The author served as a consultant to Dr. Osheroff and testified that Chestnut Lodge failed to follow through with appropriate biological treatment for its own diagnosis of depression, focusing instead on Dr.

Use of linked registry claims data for long term surveillance of devices after endovascular abdominal aortic aneurysm repair: observational surveillance study.

Objective: To evaluate long term outcomes (reintervention and late rupture of abdominal aortic aneurysm) of aortic endografts in real world practice using linked registry claims data.

Design: Observational surveillance study.

Setting: 282 centers in the Vascular Quality Initiative Registry linked to United States Medicare claims (2003-18).

Aquablation Treatment for Benign Prostate Hyperplasia: Current Standardized Procedure.

The following video Atlas summary reviews all technical elements of the standardized setup, robotic execution, aquablation procedure, and hemostasis for efficient rapid benign prostate hyperplasia treatment.

Intra-Articular Platelet Rich Plasma vs Corticosteroid Injections for Sacroiliac Joint Pain: A Double-Blinded, Randomized Clinical Trial.

Objective: Using stringent inclusion criteria, a double-blinded study protocol, and fluoroscopically guided injections, we compare intra-articular sacroiliac joint platelet-rich plasma injections with intra-articular steroids.

Design: Double-blind, randomized controlled trial.

Setting: Two large university-based interdisciplinary spine centers.

Virtual powers of observation: A telemedicine approach for the suspected COVID-19 patient.

Study Objectives: Prior to COVID-19, telemedicine and its applications to the emergency department (ED) had made significant inroads toward remote evaluation and care. During the local peak of the COVID-19 pandemic in New York City (NYC), there was a dramatic increase in telemedicine based patient encounters for suspected COVID-19 symptoms. In response, pathways were developed to promote a standardized telemedicine approach to remote evaluation and assessment of suspected COVID-19 patients.

Constitutively Activating GNAS Somatic Mutation in Right Ventricular Outflow Tract Tachycardia.

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Telemedicine Evaluations in Neuro-Ophthalmology During the COVID-19 Pandemic: Patient and Physician Surveys.

Background: The novel coronavirus 2019 (COVID-19) pandemic has transformed health care. With the need to limit COVID-19 exposures, telemedicine has become an increasingly important format for clinical care. Compared with other fields, neuro-ophthalmology faces unique challenges, given its dependence on physical examination signs that are difficult to elicit outside the office setting.

Associations of Pregnancy After Bariatric Surgery with Long-Term Weight Trajectories and Birth Weight: LABS-2 Study.

Objective: This study aimed to examine whether pregnancy following bariatric surgery affects long-term maternal weight change and offspring birth weight.

Methods: Using data from the Longitudinal Assessment of Bariatric Surgery (LABS)-2 study, linear regression was used to evaluate percent change in total body weight over a 5-year follow-up period among reproductive-aged women who underwent Roux-en-Y gastric bypass or laparoscopic adjustable gastric banding as well as evaluate the association of bariatric procedure type and offspring birth weight.

Results: Of 727 women with preoperative age of 36.

Comprehensive Diagnostic Evaluation of Cardiovascular Physiology in Patients With Pulmonary Vascular Disease: Insights From the PVDOMICS Program.

Background: Invasive hemodynamic evaluation through right heart catheterization plays an essential role in the diagnosis, categorization, and risk stratification of patients with pulmonary hypertension.

Methods: Subjects enrolled in the PVDOMICS (Redefining Pulmonary Hypertension through Pulmonary Vascular Disease Phenomics) program undergo an extensive invasive hemodynamic evaluation that includes repeated measurements at rest and during several provocative physiological challenges. It is a National Institutes of Health/National Heart, Lung, and Blood Institute initiative to reclassify pulmonary hypertension groups based on clustered phenotypic and phenomic characteristics.

Improving Cardiac Resynchronisation Therapy.

CRT is a cornerstone of therapy for patients with heart failure and reduced ejection fraction. By restoring left ventricular (LV) electrical and mechanical synchrony, CRT can reduce mortality, improve LV function and reduce heart failure symptoms. Since its introduction, many advances have been made that have improved the delivery of and enhanced the response to CRT.