De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.

Histone deacetylase 3 (HDAC3) is a crucial epigenetic modulator essential for various developmental and physiological functions. Although its dysfunction is increasingly recognized in abnormal phenotypes, to our knowledge, there have been no established reports of human diseases directly linked to HDAC3 dysfunction. Using trio exome sequencing and extensive phenotypic analysis, we correlated heterozygous de novo variants in HDAC3 with a neurodevelopmental disorder having variable clinical presentations, frequently associated with intellectual disability, developmental delay, epilepsy, and musculoskeletal abnormalities.

Reply to Viner, A.; Ayrey, S. Comment on "Scheepers et al. Comparative Performance Testing of Respirator versus Surgical Mask Using a Water Droplet Spray Model. 2021, , 1599".

The response to our publication by Andrew Viner and Stewart Ayrey is much appreciated [...

Barriers to and Facilitators of Using a One Button Tracker and Web-Based Data Analytics Tool for Personal Science: Exploratory Study.

Background: Individuals' self-tracking of subjectively experienced phenomena related to health can be challenging, as current options for instrumentation often involve too much effort in the moment or rely on retrospective self-reporting, which is likely to impair accuracy and compliance.

Objective: This study aims to assess the usability and perceived usefulness of low-effort, in-the-moment self-tracking using simple instrumentation and to establish the amount of support needed when using this approach.

Methods: In this exploratory study, the One Button Tracker-a press-button device that records time stamps and durations of button presses-was used for self-tracking.

Ethical Aspects of Personal Science for Persons with Parkinson's Disease: What Happens When Self-Tracking Goes from Selfcare to Publication?

Using Parkinson's disease as an exemplary chronic condition, this Commentary discusses ethical aspects of using self-tracking for personal science, as compared to using self-tracking in the context of conducting clinical research on groups of study participants. Conventional group-based clinical research aims to find generalisable answers to clinical or public health questions. The aim of personal science is different: to find meaningful answers that matter first and foremost to an individual with a particular health challenge.

Comparative Performance Testing of Respirator versus Surgical Mask Using a Water Droplet Spray Model.

Background: During the SARS-CoV-2 pandemic, there was shortage of the standard respiratory protective equipment (RPE). The aim of this study was to develop a procedure to test the performance of alternative RPEs used in the care of COVID-19 patients.

Methods: A laboratory-based test was developed to compare RPEs by total inward leakage (TIL).

Self-tracking of Physical Activity in People With Type 2 Diabetes: A Randomized Controlled Trial.

The purpose of this study was to determine the efficacy of an online self-tracking program on physical activity, glycated hemoglobin, and other health measures in patients with type 2 diabetes. Seventy-two patients with type 2 diabetes were randomly assigned to an intervention or control group. All participants received usual care.

The effect of a multifaceted evidence-based practice programme for nurses on knowledge, skills, attitudes, and perceived barriers: A cohort study.

Background: The Dutch professional nursing standard of 2012 stipulates that Dutch nursing practices are to be evidence-based. Not all practicing nurses can satisfy these requirements, therefore, an educational programme about Evidence-Based Practice (EBP) was developed for a Dutch teaching hospital.

Objective: The aim of this study was to measure the effects of a six month in-house EBP programme on knowledge, skills, attitudes, and perceived barriers of nurses (four European Credits equals two US Credit Hours).

Determinants for Sustained Use of an Activity Tracker: Observational Study.

Background: A lack of physical activity is considered to cause 6% of deaths globally. Feedback from wearables such as activity trackers has the potential to encourage daily physical activity. To date, little research is available on the natural development of adherence to activity trackers or on potential factors that predict which users manage to keep using their activity tracker during the first year (and thereby increasing the chance of healthy behavior change) and which users discontinue using their trackers after a short time.

Key Components in eHealth Interventions Combining Self-Tracking and Persuasive eCoaching to Promote a Healthier Lifestyle: A Scoping Review.

Background: The combination of self-tracking and persuasive eCoaching in automated interventions is a new and promising approach for healthy lifestyle management.

Objective: The aim of this study was to identify key components of self-tracking and persuasive eCoaching in automated healthy lifestyle interventions that contribute to their effectiveness on health outcomes, usability, and adherence. A secondary aim was to identify the way in which these key components should be designed to contribute to improved health outcomes, usability, and adherence.

Reliability and Validity of Ten Consumer Activity Trackers Depend on Walking Speed.

Purpose: To examine the test-retest reliability and validity of ten activity trackers for step counting at three different walking speeds.

Methods: Thirty-one healthy participants walked twice on a treadmill for 30 min while wearing 10 activity trackers (Polar Loop, Garmin Vivosmart, Fitbit Charge HR, Apple Watch Sport, Pebble Smartwatch, Samsung Gear S, Misfit Flash, Jawbone Up Move, Flyfit, and Moves). Participants walked three walking speeds for 10 min each; slow (3.

The Behavioral Consequence of Phenylketonuria in Mice Depends on the Genetic Background.

To unravel the role of gene mutations in the healthy and the diseased state, countless studies have tried to link genotype with phenotype. However, over the years, it became clear that the strain of mice can influence these results. Nevertheless, identical gene mutations in different strains are often still considered equals.

Do activity monitors increase physical activity in adults with overweight or obesity? A systematic review and meta-analysis.

Objective: To systematically assess contemporary knowledge regarding behavioral physical activity interventions including an activity monitor (BPAI+) in adults with overweight or obesity.

Methods: PubMed/MEDLINE, Embase, CINAHL, PsycINFO, CENTRAL, and PEDro were searched for eligible full-text articles up to 1 July 2015. Studies eligible for inclusion were (randomized) controlled trials describing physical activity outcomes in adults with overweight or obesity.

Reliability and validity of ten consumer activity trackers.

Background: Activity trackers can potentially stimulate users to increase their physical activity behavior. The aim of this study was to examine the reliability and validity of ten consumer activity trackers for measuring step count in both laboratory and free-living conditions.

Method: Healthy adult volunteers (n = 33) walked twice on a treadmill (4.

Measuring steps with the Fitbit activity tracker: an inter-device reliability study.

Activity trackers like Fitbit are used for self-tracking of physical activity by an increasing number of individuals. Comparing physical activity scores with peers can contribute to the desired behavioural change. However, for meaningful social comparison a high inter-device reliability is paramount.

Lesion detection performance: comparative analysis of low-dose CT data of the chest on two hybrid imaging systems.

Unlabelled: Incidental findings on low-dose CT images obtained during hybrid imaging are an increasing phenomenon as CT technology advances. Understanding the diagnostic value of incidental findings along with the technical limitations is important when reporting image results and recommending follow-up, which may result in an additional radiation dose from further diagnostic imaging and an increase in patient anxiety. This study assessed lesions incidentally detected on CT images acquired for attenuation correction on two SPECT/CT systems.

BH4 treatment in BH4-responsive PKU patients: preliminary data on blood prolactin concentrations suggest increased cerebral dopamine concentrations.

In phenylketonuria (PKU), cerebral neurotransmitter deficiencies have been suggested to contribute to brain dysfunction. Present treatment aims to reduce blood phenylalanine concentrations by a phenylalanine-restricted diet, while in some patients blood phenylalanine concentrations also respond to cofactor treatment with tetrahydrobiopterin (BH4). Recently, a repurposing approach of BH4 was suggested to increase cerebral neurotransmitter synthesis.

Phenylketonuria: brain phenylalanine concentrations relate inversely to cerebral protein synthesis.

In phenylketonuria, elevated plasma phenylalanine concentrations may disturb blood-to-brain large neutral amino acid (LNAA) transport and cerebral protein synthesis (CPS). We investigated the associations between these processes, using data obtained by positron emission tomography with l-[1-(11)C]-tyrosine ((11)C-Tyr) as a tracer. Blood-to-brain transport of non-Phe LNAAs was modeled by the rate constant for (11)C-Tyr transport from arterial plasma to brain tissue (K1), while CPS was modeled by the rate constant for (11)C-Tyr incorporation into cerebral protein (k3).

Evaluation of DVH-based treatment plan verification in addition to gamma passing rates for head and neck IMRT.

Background And Purpose: Treatment plan verification of intensity modulated radiotherapy (IMRT) is generally performed with the gamma index (GI) evaluation method, which is difficult to extrapolate to clinical implications. Incorporating Dose Volume Histogram (DVH) information can compensate for this. The aim of this study was to evaluate DVH-based treatment plan verification in addition to the GI evaluation method for head and neck IMRT.

Single amino acid supplementation in aminoacidopathies: a systematic review.

Aminoacidopathies are a group of rare and diverse disorders, caused by the deficiency of an enzyme or transporter involved in amino acid metabolism. For most aminoacidopathies, dietary management is the mainstay of treatment. Such treatment includes severe natural protein restriction, combined with protein substitution with all amino acids except the amino acids prior to the metabolic block and enriched with the amino acid that has become essential by the enzymatic defect.

The impact of gastrointestinal and genitourinary toxicity on health related quality of life among irradiated prostate cancer patients.

Purpose: To determine the impact of late radiation-induced toxicity on health-related quality of life (HRQoL) among patients with prostate cancer.

Patients And Methods: The study sample was composed of 227 patients, treated with external beam radiotherapy. Common Terminology Criteria for Adverse Events version 3.

Phenylketonuria: reduced tyrosine brain influx relates to reduced cerebral protein synthesis.

Background: In phenylketonuria (PKU), elevated blood phenylalanine (Phe) concentrations are considered to impair transport of large neutral amino acids (LNAAs) from blood to brain. This impairment is believed to underlie cognitive deficits in PKU via different mechanisms, including reduced cerebral protein synthesis. In this study, we investigated the hypothesis that impaired LNAA influx relates to reduced cerebral protein synthesis.

Quality of life among prostate cancer patients: a prospective longitudinal population-based study.

Purpose: To investigate the course of quality of life (QoL) among prostate cancer patients treated with external beam radiotherapy and to compare the results with QoL of a normal age-matched reference population.

Patients And Methods: The study population was composed of 227 prostate cancer patients, treated with radiotherapy. The EORTC QLQ-C30 was used to assess QoL before radiotherapy and six months, one year, two years and three years after completion of radiotherapy.

Treatment experience, burden, and unmet needs (TRIBUNE) in Multiple Sclerosis study: the costs and utilities of MS patients in The Netherlands.

Background: Multiple sclerosis (MS) is an important, highly disabling neurological disease, common among young adults in The Netherlands. Nevertheless, only a few studies to date have measured the burden imposed by MS on society in The Netherlands.

Objectives: To estimate the cost and quality-of-life associated with MS in The Netherlands, while focusing on the burden of relapses and increasing disease severity.

Cost-effectiveness of omalizumab for uncontrolled allergic asthma in the Netherlands.

Background: Omalizumab, licensed for patients with uncontrolled persistent allergic (IgE mediated) asthma, was found to be cost-effective based upon its clinical trial data. Observational studies have been undertaken to determine the real life outcomes of using omalizumab in the community.

Objective: To determine the cost-effectiveness of omalizumab based upon observational data from the Netherlands and compare to its cost-effectiveness using clinical trial data.