Adoption of Digital Therapeutics in Europe.

Digital therapeutics (DTx) are an emerging medical therapy comprising evidence-based interventions that are regulatory approved for patient use, or are under development, for a variety of medical conditions, including hypertension, cancer, substance use disorders and mental disorders. DTx have significant potential to reduce the overall burden on healthcare systems and offer potential economic benefits. There is currently no specific legal regulation on DTx in the EU.

Sex-specific DNA methylation differences in Amyotrophic lateral sclerosis.

Sex is an important covariate in all genetic and epigenetic research due to its role in the incidence, progression and outcome of many phenotypic characteristics and human diseases. Amyotrophic lateral sclerosis (ALS) is a motor neuron disease with a sex bias towards higher incidence in males. Here, we report for the first time a blood-based epigenome-wide association study meta-analysis in 9274 individuals after stringent quality control (5529 males and 3975 females).

Evaluation of a fully automated computed tomography image segmentation method for fast and accurate body composition measurements.

Introduction: Body composition evaluation can be used to assess patients' nutritional status to predict clinical outcomes. To facilitate reliable and time-efficient body composition measurements eligible for clinical practice, fully automated computed tomography segmentation methods were developed. The aim of this study was to evaluate automated segmentation by Data Analysis Facilitation Suite in an independent dataset.

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability.

GC-rich tandem repeat expansions (TREs) are often associated with DNA methylation, gene silencing and folate-sensitive fragile sites, and underlie several congenital and late-onset disorders. Through a combination of DNA-methylation profiling and tandem repeat genotyping, we identified 24 methylated TREs and investigated their effects on human traits using phenome-wide association studies in 168,641 individuals from the UK Biobank, identifying 156 significant TRE-trait associations involving 17 different TREs. Of these, a GCC expansion in the promoter of AFF3 was associated with a 2.

Comparison of state-of-the-art deep learning architectures for detection of freezing of gait in Parkinson's disease.

Introduction: Freezing of gait (FOG) is one of the most debilitating motor symptoms experienced by patients with Parkinson's disease (PD). FOG detection is possible using acceleration data from wearable sensors, and a convolutional neural network (CNN) is often used to determine the presence of FOG epochs. We compared the performance of a standard CNN for the detection of FOG with two more complex networks, which are well suited for time series data, the MiniRocket and the InceptionTime.

Video Interventions for Reducing Health Inequity in Cancer Screening Programmes: a Systematic Review.

Background: Health equity can lead to disparities in cancer screening, treatment, and mortality. This systematic review aims to identify and describe interventions that used video or DVD formats to reduce health inequity in cancer screening and review the effectiveness of such interventions in increasing screening rates compared to usual care conditions.

Methods: We searched PubMed, Web of Science, Embase, and Cochrane databases for randomized control trials (RCTs) published until 18/01/2023 that compared intervention versus usual care control groups, with the percentage of cancer screening uptake during follow-up as an outcome.

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in as a significant cause of intellectual disability.

GC-rich tandem repeat expansions (TREs) are often associated with DNA methylation, gene silencing and folate-sensitive fragile sites and underlie several congenital and late-onset disorders. Through a combination of DNA methylation profiling and tandem repeat genotyping, we identified 24 methylated TREs and investigated their effects on human traits using PheWAS in 168,641 individuals from the UK Biobank, identifying 156 significant TRE:trait associations involving 17 different TREs. Of these, a GCC expansion in the promoter of was linked with a 2.

Impact of sarcopenia on clinical outcomes for patients with resected hepatocellular carcinoma: a retrospective comparison of Eastern and Western cohorts.

Background: Patient fitness is important for guiding treatment. Muscle mass, as a reflection thereof, can be objectively measured. However, the role of East-West differences remains unclear.

Predicting Motor Outcome and Quality of Life After Subthalamic Deep Brain Stimulation for Parkinson's Disease: The Role of Standard Screening Measures and Wearable-Data.

Background: Standardized screening for subthalamic deep brain stimulation (STN DBS) in Parkinson's disease (PD) patients is crucial to determine eligibility, but its utility to predict postoperative outcomes in eligible patients is inconclusive. It is unknown whether wearable data can contribute to this aim.

Objective: To evaluate the utility of universal components incorporated in the DBS screening, complemented by a wearable sensor, to predict motor outcomes and Quality of life (QoL) one year after STN DBS surgery.

Interactive or tailored digital interventions to increase uptake in cervical, breast, and colorectal cancer screening to reduce health inequity: a systematic review.

Background And Objectives: Significant health inequities exist in screening uptake for certain types of cancer. The review question was to identify and describe interactive, tailored digital, computer, and web-based interventions to reduce health inequity in cancer screening and review the effectiveness of such interventions in increasing screening rates versus usual care.

Methods: We searched four medical literature databases for randomized control trials (RCTs) published until 12 January 2023 that evaluated interventions aimed at increasing the percentage of breast, prostate, cervical, or colorectal cancer screening uptake.

Good vibrations: tactile cueing for freezing of gait in Parkinson's disease.

Background: Cueing strategies can alleviate freezing of gait (FOG) in people with Parkinson's disease (PD). We evaluated tactile cueing delivered via vibrating socks, which has the benefit of not being noticeable to bystanders.

Objective: To evaluate the effect of tactile cueing compared to auditory cueing on FOG.

Circulating tumour DNA as biomarker for rectal cancer: A systematic review and meta-analyses.

Background: Circulating tumour DNA (ctDNA) has been established as a promising (prognostic) biomarker with the potential to personalise treatment in cancer patients. The objective of this systematic review is to provide an overview of the current literature and the future perspectives of ctDNA in non-metastatic rectal cancer.

Methods: A comprehensive search for studies published prior to the 4 of October 2022 was conducted in Embase, Medline, Cochrane, Google scholar, and Web of Science.

Impact of muscle mass on survival of patients with hepatocellular carcinoma after liver transplantation beyond the Milan criteria.

Background: Access to the liver transplant waitlist for patients with hepatocellular carcinoma (HCC) depends on tumour presentation, biology, and response to treatments. The Milan Criteria (MC) represent the benchmark for expanded criteria that incorporate additional prognostic factors. The purpose of this study was to determine the added value of skeletal muscle index (SMI) in HCC patients beyond the MC.

Success, complication, and mortality rates of initial biliary drainage in patients with unresectable perihilar cholangiocarcinoma.

Background: The patients with unresectable perihilar cholangiocarcinoma require biliary drainage to relieve symptoms and allow for palliative systemic chemotherapy. The aim of this study was to establish the success, complication, and mortality rates of the initial biliary drainage in patients with unresectable perihilar cholangiocarcinoma at presentation.

Methods: In this retrospective multicenter study, patients with unresectable perihilar cholangiocarcinoma who underwent initial endoscopic or percutaneous transhepatic biliary drainage between 2002 and 2014 were included.

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats.

Background: Expansions of short tandem repeats are the cause of many neurogenetic disorders including familial amyotrophic lateral sclerosis, Huntington disease, and many others. Multiple methods have been recently developed that can identify repeat expansions in whole genome or exome sequencing data. Despite the widely recognized need for visual assessment of variant calls in clinical settings, current computational tools lack the ability to produce such visualizations for repeat expansions.