Development of the Dutch translational knowledge agenda for inherited metabolic diseases.

Background: Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities. The United for Metabolic Diseases consortium was established to catalyze research with translation into the best possible care.

Significance of an Early Repeat Troponin Measurement Upon Presentation to the Hospital for Acute Heart Failure.

Background: Higher cardiac troponin is associated with worse outcomes in patients with acute heart failure. The significance of repeat measurements over hours remains unclear. We assessed whether a repeat measurement and the Δ between measurements of high-sensitivity cardiac troponin I (hs-cTnI) were associated with outcomes in hypervolemic patients with acute heart failure without acute coronary syndrome.

Computer-assisted revision total knee arthroplasty does not improve postoperative knee prosthesis alignment compared to the conventional technique.

Purpose: Computer-assisted surgery (CAS) during primary total knee arthroplasty (TKA) prosthesis alignment. However, literature on its use during revision TKA (rTKA) is scarce. Moreover, the effect of CAS during rTKA on rotational alignment of the prosthesis has not been described yet.

Unraveling interindividual variation of trimethylamine -oxide and its precursors at the population level.

Trimethylamine -oxide (TMAO) is a circulating microbiome-derived metabolite implicated in the development of atherosclerosis and cardiovascular disease (CVD). We investigated whether plasma levels of TMAO, its precursors (betaine, carnitine, deoxycarnitine, choline), and TMAO-to-precursor ratios are associated with clinical outcomes, including CVD and mortality. This was followed by an in-depth analysis of their genetic, gut microbial, and dietary determinants.

ChatGPT and generative AI are revolutionizing the scientific community: A Janus-faced conundrum.

The advent of generative artificial intelligence (AI) technologies marks a transformative moment for the scientific sphere, unlocking novel avenues to elevate scientific writing's efficiency and quality, expedite insight discovery, and enhance code development processes. Essential to leveraging these advancements is prompt engineering, a method that enhances AI interaction efficiency and quality. Despite its benefits, effective application requires blending researchers' expertise with AI, avoiding overreliance.

Therapeutic clothing use in atopic dermatitis in the Netherlands: A population based cohort study.

National prescription data for therapeutic clothing in atopic dermatitis was analysed to investigate the role of therapeutic clothing in atopic dermatitis. Therapeutic clothing is most frequently prescribed by dermatologists in a hospital setting. Most patients only receive one prescription of therapeutic clothing, suggesting a limited role for therapeutic clothing in the long-term management of atopic dermatitis.

Muscle strength is reduced in children with pulmonary arterial hypertension.

Muscle strength is decreased in adults with pulmonary arterial hypertension (PAH). We aim to investigate muscle strength in children with PAH in relation to a cohort of healthy children, and investigate correlations with disease severity markers. This prospective study included children with PAH aged 4-18 years, who visited the Dutch National Referral Center for Pulmonary Hypertension in Childhood between October 2015 and March 2016.

iMeta progress and acknowledgment of reviewers in 2022.

Milestones of the first year of iMeta. iMeta is an open-access Wiley partner journal launched by iMeta Science Society consisting of worldwide scientists in bioinformatics and metagenomics. In 2022, iMeta released four issues, including 60 publications with a total of 340 citations.

Gamma-glutamyl transferase and disease course in pediatric-onset primary sclerosing cholangitis: A single-center cohort study.

Background And Aims: Patients with pediatric-onset primary sclerosing cholangitis (PSC) are at risk of developing hepatic complications with liver transplantation as only curative treatment. Complications usually occur over many years, underlining the need for reliable surrogate markers to predict the clinical course. Recently, gamma-glutamyl transferase (GGT) has been suggested to allow prediction of the clinical course.

EasyAmplicon: An easy-to-use, open-source, reproducible, and community-based pipeline for amplicon data analysis in microbiome research.

It is difficult for beginners to learn and use amplicon analysis software because there are so many software tools to choose from, and all of them need multiple steps of operation. Herein, we provide a cross-platform, open-source, and community-supported analysis pipeline EasyAmplicon. EasyAmplicon has most of the modules needed for an amplicon analysis, including data quality control, merging of paired-end reads, dereplication, clustering or denoising, chimera detection, generation of feature tables, taxonomic diversity analysis, compositional analysis, biomarker discovery, and publication-quality visualization.

Detection of clonal mast cell disease in wasp venom allergic patients with normal tryptase.

Background: Clonal mast cell disease (CMD) is an underlying aggravating condition in wasp venom allergy (WVA) which requires a different treatment strategy. CMD is increasingly recognized in patients with normal basal serum tryptase (bsT). However, methods to identify at risk patients have not yet been assessed in large cohorts of WVA patients with normal bsT.

Pirfenidone ameliorates pulmonary arterial pressure and neointimal remodeling in experimental pulmonary arterial hypertension by suppressing NLRP3 inflammasome activation.

Pulmonary arterial hypertension (PAH) is a fatal disease characterized by increased pulmonary arterial pressure, inflammation, and neointimal remodeling of pulmonary arterioles. Serum levels of interleukin (IL)-1β and IL-18 are elevated in PAH patients and may enhance proinflammatory neointimal remodeling. NLRP3 inflammasome activation induces cleavage of the cytokines IL-1β and IL-18, required for their secretion.

Decoding microbial genomes to understand their functional roles in human complex diseases.

Complex diseases such as cardiovascular disease (CVD), obesity, inflammatory bowel disease (IBD), kidney disease, type 2 diabetes (T2D), and cancer have become a major burden to public health and affect more than 20% of the population worldwide. The etiology of complex diseases is not yet clear, but they are traditionally thought to be caused by genetics and environmental factors (e.g.

Child neurocognitive functioning influences the effectiveness of specific techniques in behavioral teacher training for ADHD: Moderator analyses from a randomized controlled microtrial.

Background: Childhood attention-deficit/hyperactivity disorder (ADHD) is associated with several neurocognitive impairments. Whether these impairments influence the effectiveness of techniques that are commonly used in behavioral teacher training for ADHD has not been investigated so far.

Method: In this microtrial, teachers of 90 children with ADHD symptoms (6-12 years) were randomly assigned to a short intervention consisting of either antecedent-based (stimulus-control) techniques or consequent-based (contingency management) techniques, or to a waitlist control condition.

Canagliflozin, serum magnesium and cardiovascular outcomes-Analysis from the CANVAS Program.

Background: Patients with type 2 diabetes (T2D) are predisposed to derangements in serum Magnesium (Mg), which may have implications for cardiometabolic events and outcomes. In clinical trials, participants with T2D randomized to sodium-glucose co-transporter 2 (SGLT2) inhibitors have shown mild to moderate increases in serum Mg from baseline levels. This post hoc analysis assesses the relation between serum Mg with cardiovascular outcomes in 10,140 participants of the Canagliflozin Cardiovascular Assessment Study (CANVAS) Program.

Limited effect of duration of CMV infection on adaptive immunity and frailty: insights from a 27-year-long longitudinal study.

Objectives: Cytomegalovirus infection is thought to affect the immune system and to impact general health during ageing. Higher CMV-specific antibody levels in the elderly are generally assumed to reflect experienced viral reactivation during life. Furthermore, high levels of terminally differentiated and CMV-specific T cells are hallmarks of CMV infection, which are thought to expand over time, a process also referred to as memory inflation.

Emergencies on direct oral anticoagulants: Management, outcomes, and laboratory effects of prothrombin complex concentrate.

Background: In the initial absence of specific reversal agents for factor Xa inhibitors (FXa-Is), prothrombin complex concentrate (PCC) as a hemostatic agent has been recommended by guidelines. Since 2017, idarucizumab has been registered for dabigatran reversal. Still, data on the clinical outcome of direct oral anticoagulant (DOAC)-related emergencies (major bleeding or urgent interventions) is scarce.

Immune microenvironment composition in non-small cell lung cancer and its association with survival.

Objectives: In non-small cell lung cancer (NSCLC), the immune system and possibly its composition affect survival. In this study, the immune infiltrate composition in NSCLC patients was evaluated.

Methods: Gene expression data of tumors from early NSCLC patients were obtained from Gene Expression Omnibus (GEO).

Loss of c-Jun N-terminal Kinase 1 and 2 Function in Liver Epithelial Cells Triggers Biliary Hyperproliferation Resembling Cholangiocarcinoma.

Targeted inhibition of the c-Jun N-terminal kinases (JNKs) has shown therapeutic potential in intrahepatic cholangiocarcinoma (CCA)-related tumorigenesis. However, the cell-type-specific role and mechanisms triggered by JNK in liver parenchymal cells during CCA remain largely unknown. Here, we aimed to investigate the relevance of JNK1 and JNK2 function in hepatocytes in two different models of experimental carcinogenesis, the dethylnitrosamine (DEN) model and in nuclear factor kappa B essential modulator (NEMO) mice, focusing on liver damage, cell death, compensatory proliferation, fibrogenesis, and tumor development.

Relation Between Leisure Time, Commuting, and Occupational Physical Activity With Blood Pressure in 125 402 Adults: The Lifelines Cohort.

Background Whether all domains of daily-life moderate-to-vigorous physical activity (MVPA) are associated with lower blood pressure (BP) and how this association depends on age and body mass index remains unclear. Methods and Results In the population-based Lifelines cohort (N=125 402), MVPA was assessed by the Short Questionnaire to Assess Health-Enhancing Physical Activity, a validated questionnaire in different domains such as commuting, leisure-time, and occupational PA. BP was assessed using the last 3 of 10 measurements after 10 minutes' rest in the supine position.

Axonal abnormalities in vanishing white matter.

Objective: We aimed to study the occurrence and development of axonal pathology and the influence of astrocytes in vanishing white matter.

Methods: Axons and myelin were analyzed using electron microscopy and immunohistochemistry on and single- and double-mutant mice and patient brain tissue. In addition, astrocyte-forebrain co-culture studies were performed.

Copy number variation in a hospital-based cohort of children with epilepsy.

Objective: To evaluate the diagnostic yield of microarray analysis in a hospital-based cohort of children with seizures and to identify novel candidate genes and susceptibility loci for epilepsy.

Methods: Of all children who presented with their first seizure in the University Medical Center Groningen (January 2000 through May 2013) (n = 1,368), we included 226 (17%) children who underwent microarray analysis before June 2014. All 226 children had a definite diagnosis of epilepsy.