Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.

The biomarker-based Dutch Newborn Screening (NBS) panel (as of 2024) comprises 19 inherited metabolic disorders (IMDs). With the use of next-generation sequencing (NGS) as a first-tier screen, NBS could expand to include IMDs that lack a reliable biochemical footprint in dried blood spots, while also reducing secondary findings. To be eligible for inclusion in NBS, an IMD needs to fulfill the Wilson and Jungner criteria, with treatability being one of the most important criteria.

7. Cervical facet pain: Degenerative alterations and whiplash-associated disorder.

Introduction: Pain from the cervical facet joints, either due to degenerative conditions or due to whiplash-related trauma, is very common in the general population. Here, we provide an overview of the literature on the diagnosis and treatment of cervical facet-related pain with special emphasis on interventional treatment techniques.

Methods: A literature search on the diagnosis and treatment of cervical facet joint pain and whiplash-associated disorders (WAD) was performed using PubMed, Cochrane, and Embase databases.

Tangential Versus Segmental Portomesenteric Venous Resection During Pancreatoduodenectomy for Pancreatic Cancer: An International Multicenter Cohort Study on Surgical and Oncological Outcome.

Objective: To investigate whether tangential versus segmental portomesenteric venous resection (PVR) impacts surgical and oncological outcome in patients undergoing pancreatoduodenectomy for pancreatic cancer with portomesenteric vein (PMV) involvement.

Summary Background Data: Current comparative studies on tangential versus segmental PVR as part of pancreatoduodenectomy for pancreatic cancer include all degrees of PMV involvement, including cases where tangential PVR may not be a feasible approach, limiting the clinical applicability.

Methods: International retrospective study in 10 centers from 5 countries, including all consecutive patients after pancreatoduodenectomy with PVR for pancreatic cancer with ≤180° PMV involvement on cross-sectional imaging at diagnosis (2014-2020).

Gender differences in early posttraumatic stress disorder symptoms: a network analysis.

Despite known gender/sex differences in the prevalence of posttraumatic stress disorder (PTSD), potential differences in the associations among PTSD symptoms between men and women in the early post-trauma period are not well-characterized. This study utilized network analysis to assess potential differences in the associations among PTSD symptom clusters between men and women during the early post-trauma period. We included  = 475 participants (57.

An Overview of the Currently Used Congenital Auricular Anomalies (CAA) Classifications for Surgical Reconstruction: A Scoping Review.

CAAs are congenital malformations of the auricle ranging from ear underdevelopment to anotia, lacks standardized classification, impacting our outcome of different reconstruction approaches. This scoping review aimed to explore which CAA classifications are most used in current ear reconstruction practices. We conducted a scoping review following the PRISMA guidelines, searching MEDLINE and Embase databases on November 1st, 2023.

Amyloid-β and tau deposition in traumatic brain injury: a study of Vietnam War veterans.

Traumatic brain injury is widely viewed as a risk factor for dementia, but the biological mechanisms underlying this association are still unclear. In previous studies, traumatic brain injury has been associated with the hallmark pathologies of Alzheimer's disease, i.e.

Urethra-sparing prostate cancer radiotherapy: Current practices and future insights from an international survey.

Purpose: In prostate cancer patients, high radiation doses to the urethra have been associated with an increased risk of severe genitourinary toxicity following dose-escalated radiotherapy. Urethra-sparing techniques have emerged as a promising approach to reduce urinary toxicity. This international survey aims to evaluate current global practices in urethra-sparing and explore future directions for the implementation of this technique in external beam radiotherapy (EBRT) for prostate cancer.

Effectiveness of the mobile Stress Autism Mate Junior application in reducing stress and improving quality of life in adolescents with autism: a pilot study.

Objective: Studies indicate that stress levels of autistic adolescents may be particularly high. Therefore, support is needed to help them deal with their stressors. Stress Autism Mate (SAM) Junior, a mobile self-help tool, was designed in co-creation with adolescents with autism to help reduce daily stress levels.

Empathy and Mentalizing of Mental Health Nurses: A Cross-Sectional Correlational Study.

In mental healthcare, therapists' empathy and mentalizing are associated with better opportunities to establish positive working relations with patients. The present study aimed to explore mental health nurses' level of empathy and mentalizing (compared with reference groups studying or working in different contexts), the association between mental health nurses' level of empathy and mentalizing and sociodemographic characteristics of these nurses, and the association between mental health nurses' level of empathy and mentalizing. A cross-sectional design was used in adherence with the Strengthening the Reporting of Observational Studies in Epidemiology statement.

Neurofilament heavy chain in secondary progressive multiple sclerosis.

Background: Biomarkers are needed to track progression in MS trials. Neurofilament heavy chain (NfH) has been underutilized due to assay limitations.

Objective: To investigate the added value of cerebrospinal fluid (CSF) NfH in secondary progressive multiple sclerosis (SPMS) using contemporary immunoassays.

Healthcare worker views on antimicrobial resistance in chronic respiratory disease.

Background And Objective: Antimicrobial resistance (AMR) is a global crisis, however, relatively little is known regarding its impact in chronic respiratory disease and the specific challenges faced by healthcare workers across the world in this field. We aimed to assess global healthcare worker views on the challenges they face regarding AMR in chronic respiratory disease.

Methods: An online survey was sent to healthcare workers globally working in chronic respiratory disease through a European Respiratory Society clinical research collaboration (AMR-Lung) focussed on AMR in chronic lung disease.

Triple-negative breast cancer modifies the systemic immune landscape and alters neutrophil functionality.

Cancer disrupts intratumoral innate-adaptive immune crosstalk, but how the systemic immune landscape evolves during breast cancer progression remains unclear. We profiled circulating immune cells in stage I-III and stage IV triple-negative breast cancer (TNBC) patients and healthy donors (HDs). Metastatic TNBC (mTNBC) patients had reduced T cells, dendritic cells, and differentiated B cells compared to non-metastatic TNBC patients and HDs, partly linked to prior chemotherapy.

Deoxygenative photochemical alkylation of secondary amides enables a streamlined synthesis of substituted amines.

Secondary amines are vital functional groups in pharmaceuticals, agrochemicals, and natural products, necessitating efficient synthetic methods. Traditional approaches, including N-monoalkylation and reductive amination, suffer from limitations such as poor chemoselectivity and complexity. Herein, we present a streamlined deoxygenative photochemical alkylation of secondary amides, enabling the efficient synthesis of α-branched secondary amines.

Evaluating the Performance of Non-invasive Tests for Colorectal Cancer: Statistical Considerations.

Like all interventions in health care, novel non-invasive tests for colorectal cancer should be properly evaluated before they can be recommended. Such evaluations should be performed in well-designed studies, of which the results can serve as the evidence base for recommendations. While the methods for evaluating novel tests have been slower to develop, there is now a solid base for developing suggestions and even strong recommendations for their assessment.

Genomics yields biological and phenotypic insights into bipolar disorder.

Bipolar disorder is a leading contributor to the global burden of disease. Despite high heritability (60-80%), the majority of the underlying genetic determinants remain unknown. We analysed data from participants of European, East Asian, African American and Latino ancestries (n = 158,036 cases with bipolar disorder, 2.

Platinum hydride formation during cathodic corrosion in aqueous solutions.

Cathodic corrosion is an electrochemical phenomenon that etches metals at moderately negative potentials. Although cathodic corrosion probably occurs by forming a metal-containing anion, such intermediate species have not yet been observed. Here, aiming to resolve this long-standing debate, our work provides such evidence through X-ray absorption spectroscopy.

The involvement of orexin-1 receptors in modulation of feeding and anxiety-like behavior in rats with complete Freund's adjuvant-induced temporomandibular joint disorder.

Orexin-A (OXA), a neuropeptide produced in the hypothalamus, is recognized for its role in modulating orofacial nociception and regulating feeding behaviors, as well as its impact on psychophysiological responses. This study investigated the role of orexin-1 receptors (OX1R) in modulating nociceptive behaviors induced by noxious stimulation of the temporomandibular joint (TMJ) and the associated changes in mood and feeding behaviors in rats with complete Freund's adjuvant (CFA)-induced temporomandibular disorders (TMDs). Bilateral cannulation of the lateral ventricles was performed in rats.

Ex vivo detection of recreational consumed nitrous oxide in exhaled breath.

The increasing use of recreational nitrous oxide ([Formula: see text]O) in the Netherlands and its link to traffic accidents highlights the need for reliable detection methods for law enforcement. This study focused on ex vivo detection of [Formula: see text]O in exhaled breath and examining its persistence in the human body. Firstly, a low-cost portable infrared based detector was selected and validated to detect [Formula: see text]O in air.

Motivations for Abortion or Continuation of an Unwanted Pregnancy: A Scoping Review of the Global Literature.

Context: The aim of this scoping review was to provide an overview of recent studies in peer reviewed journals investigating self-reported motivations to have an abortion or to continue an unwanted pregnancy in different countries and settings, including both qualitative and quantitative results.

Methods: We searched for English language publications published between 2008 and 2023 indexed in four scientific databases. We included studies if they captured people's own motivations for abortion and/ or for continuing an unwanted pregnancy.

Intravesical Instillation of Chemotherapy Before Radical Surgery for Upper Urinary Tract Urothelial Carcinoma: The REBACARE Trial.

Background And Objective: Intravesical instillation of chemotherapy (IIC) after radical surgery for upper urinary tract urothelial carcinoma (UTUC) reduces the risk of intravesical recurrence (IVR). However, compliance is low because of possible extravesical leakage after bladder cuff excision. The aim of this study was to evaluate the efficacy of preoperative IIC in reducing the risk of IVR.