Assessing and attending to psychosocial concerns in genetic counseling: Proposing the BATHE method.

The process of identifying and responding to patients' social, emotional, and psychological concerns is a required skill for training and practicing genetic counselors. Patients' health outcomes are improved when genetic counselors attend to these "psychosocial" concerns. Still, the process of eliciting, assessing, and attending to patients' psychosocial concerns in the genetic counseling setting is not well defined in the literature nor is it performed consistently.

Left atrial volume assessed by echocardiography identifies patients with high risk of adverse outcome after acute myocardial infarction.

Background: The left atrial (LA) volume has been demonstrated to be an important predictor of adverse outcome in patients with various cardiac conditions, including acute myocardial infarction (AMI). However, new treatment strategies in patients with AMI have led to better patient outcomes. We hypothesised that increased LA size could still predict mortality in patients with AMI despite improved treatment strategies.

The Prognostic Value of Left Atrial Function in Patients with Acute Myocardial Infarction.

The prognostic value of left atrial (LA) volume is well-established in acute myocardial infarction (AMI) patients. LA strain provides further patophysological insights. In the present study, we evaluated LA volume and LA strain in AMI patients including those with atrial fibrillation (AF).

Mortality in Patients with Acute Coronary Syndrome-A Prospective 5-Year Follow-Up Study.

Our objective was to compare long-term outcomes in patients with non-ST-elevation myocardial infarction (NSTEMI) and ST-elevation myocardial infarction (STEMI) between two time periods in Southern Norway. There are limited contemporary data comparing long-term follow-up after revascularization in the last decades. This prospective follow-up study consecutively included both NSTEMI and STEMI patients during two time periods, 2014-2015 and 2004-2009.

Artificial Intelligence for Automatic Measurement of Left Ventricular Strain in Echocardiography.

Objectives: This study sought to examine if fully automated measurements of global longitudinal strain (GLS) using a novel motion estimation technology based on deep learning and artificial intelligence (AI) are feasible and comparable with a conventional speckle-tracking application.

Background: GLS is an important parameter when evaluating left ventricular function. However, analyses of GLS are time consuming and demand expertise, and thus are underused in clinical practice.

Myocardial Function Imaging in Echocardiography Using Deep Learning.

Deformation imaging in echocardiography has been shown to have better diagnostic and prognostic value than conventional anatomical measures such as ejection fraction. However, despite clinical availability and demonstrated efficacy, everyday clinical use remains limited at many hospitals. The reasons are complex, but practical robustness has been questioned, and a large inter-vendor variability has been demonstrated.

Real-Time Automatic Ejection Fraction and Foreshortening Detection Using Deep Learning.

Volume and ejection fraction (EF) measurements of the left ventricle (LV) in 2-D echocardiography are associated with a high uncertainty not only due to interobserver variability of the manual measurement, but also due to ultrasound acquisition errors such as apical foreshortening. In this work, a real-time and fully automated EF measurement and foreshortening detection method is proposed. The method uses several deep learning components, such as view classification, cardiac cycle timing, segmentation and landmark extraction, to measure the amount of foreshortening, LV volume, and EF.

Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).

Wolf-Hirschhorn syndrome (WHS) is a microdeletion syndrome characterized by distinctive facial features consisting of "Greek warrior helmet" appearance, prenatal and postnatal growth deficiency, developmental disability, and seizures. This disorder is caused by heterozygous deletions on chromosome 4p16.3 often identified by cytogenetic techniques.

The CELF1 RNA-Binding Protein Regulates Decay of Signal Recognition Particle mRNAs and Limits Secretion in Mouse Myoblasts.

We previously identified several mRNAs encoding components of the secretory pathway, including signal recognition particle (SRP) subunit mRNAs, among transcripts associated with the RNA-binding protein CELF1. Through immunoprecipitation of RNAs crosslinked to CELF1 in myoblasts and in vitro binding assays using recombinant CELF1, we now provide evidence that CELF1 directly binds the mRNAs encoding each of the subunits of the SRP. Furthermore, we determined the half-lives of the Srp transcripts in control and CELF1 knockdown myoblasts.