Voltage Gated Calcium Channel Dysregulation May Contribute to Neurological Symptoms in Calmodulinopathies.

Calmodulinopathies are caused by mutations in calmodulin (CaM), and result in debilitating cardiac arrythmias such as long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). In addition, many patients exhibit neurological comorbidities, including developmental delay and autism spectrum disorder. Until now, most work into these mutations has focused on cardiac effects, identifying impairment of Ca /CaM-dependent inactivation (CDI) of Ca 1.

Allosteric changes in protein stability and dynamics as pathogenic mechanism for calmodulin variants not affecting Ca coordinating residues.

Mutations in the small, calcium-sensing, protein calmodulin cause cardiac arrhythmia and can ultimately prove lethal. Here, we report the impact of the G113R variant on the structure and dynamics of the calmodulin molecule, both in the presence and in the absence of calcium. We show that the mutation introduces minor changes into the structure of calmodulin and that it changes the thermostability and thus the degree of foldedness at human body temperature.

Patient Care Boards - A tool to promote patient participation during hospital ward rounds.

Objective: This pre-post intervention study investigated the effectiveness of the Patient Care Board (PCB) as a tool to increase the participation of patients and relatives during hospital ward rounds.

Methods: Using The Activity Barometer (TAB), we rated 121 video-recorded rounds to compare participation before and after implementing the PCB into clinical practice. Associations between scores for the extent to which patients ask questions or express preferences and concerns were tested with multiple linear regression.

Communication Skills Training: A Means to Promote Time-Efficient Patient-Centered Communication in Clinical Practice.

Purpose: We hypothesized that health care providers would behave in a more patient-centered manner after the implementation of communication skills training, without causing the consultation to last longer.

Methods: This study was part of the large-scale implementation of a communication skills training program called "Clear-Cut Communication With Patients" at Lillebaelt Hospital in Denmark. Audio recordings from real-life consultations were collected in a pre-post design, with health care providers' participation in communication skills training as the intervention.

Codebook for rating clinical communication skills based on the Calgary-Cambridge Guide.

Background: The aim of the study was to confirm the validity and reliability of the Observation Scheme-12, a measurement tool for rating clinical communication skills.

Methods: The study is a sub-study of an intervention study using audio recordings to assess the outcome of communication skills training. This paper describes the methods used to validate the assessment tool Observation Scheme-12 by operationalizing the crude 5-point scale into specific elements described in a codebook.

Translation and cultural adaptation of the Communication Assessment Tool (CAT), developing a Danish and Norwegian version.

Objective: To translate and cultural adapt the 14-item Communication Assessment Tool (CAT) into Norwegian and Danish, making them as similar as possible.

Design: This was a translation and validation study including individual interviews for content and face validity and a patient survey for internal consistency and floor-ceiling effect.

Setting: Outpatient clinic at the Department of Internal Medicine, Lillebaelt Hospital, Denmark and a Norwegian general practice.

Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer.

Women with epithelial ovarian cancer (EOC) are usually treated with platinum/taxane therapy after cytoreductive surgery but there is considerable inter-individual variation in response. To identify germline single-nucleotide polymorphisms (SNPs) that contribute to variations in individual responses to chemotherapy, we carried out a multi-phase genome-wide association study (GWAS) in 1,244 women diagnosed with serous EOC who were treated with the same first-line chemotherapy, carboplatin and paclitaxel. We identified two SNPs (rs7874043 and rs72700653) in TTC39B (best P=7x10-5, HR=1.

Efficacy of FDG PET/CT imaging for venous thromboembolic disorders: preliminary results from a prospective, observational pilot study.

Purpose: In recent years, several case reports have described venous thromboembolism (VTE) on FDG PET/CT. In this short communication, we present results from a proof-of-concept pilot study aimed at providing some preliminary data on the efficacy of FDG PET/CT in prospective patients with suspected VTE.

Patients And Methods: Fifteen patients with suspected deep venous thrombosis (DVT) and/or pulmonary embolism (PE) were included prospectively and underwent a whole-body FDG PET/CT.

ABCA transporter gene expression and poor outcome in epithelial ovarian cancer.

Background: ATP-binding cassette (ABC) transporters play various roles in cancer biology and drug resistance, but their association with outcomes in serous epithelial ovarian cancer (EOC) is unknown.

Methods: The relationship between clinical outcomes and ABC transporter gene expression in two independent cohorts of high-grade serous EOC tumors was assessed with real-time quantitative polymerase chain reaction, analysis of expression microarray data, and immunohistochemistry. Associations between clinical outcomes and ABCA transporter gene single nucleotide polymorphisms were tested in a genome-wide association study.

Inherited variants in regulatory T cell genes and outcome of ovarian cancer.

Although ovarian cancer is the most lethal of gynecologic malignancies, wide variation in outcome following conventional therapy continues to exist. The presence of tumor-infiltrating regulatory T cells (Tregs) has a role in outcome of this disease, and a growing body of data supports the existence of inherited prognostic factors. However, the role of inherited variants in genes encoding Treg-related immune molecules has not been fully explored.

A latent model for prioritization of SNPs for functional studies.

One difficult question facing researchers is how to prioritize SNPs detected from genetic association studies for functional studies. Often a list of the top M SNPs is determined based on solely the p-value from an association analysis, where M is determined by financial/time constraints. For many studies of complex diseases, multiple analyses have been completed and integrating these multiple sets of results may be difficult.