Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients.

Classical galactosemia (CG) is an autosomal recessive disorder of galactose metabolism. Despite early initiation of a galactose-restricted diet, patients develop long-term complications including cognitive impairment. There is an ongoing debate whether the cognitive impairment in CG is stable throughout life or progresses with age.

Sex Differences in Out-of-Hospital Cardiac Arrest Survival Trends.

Background: Out-of-hospital cardiac arrest survival rates have improved over time. This study established whether improvements were similar for women and men, and to what extent resuscitation characteristics or in-hospital procedures contributed to sex differences in temporal trends.

Methods And Results: This retrospective cohort study included 3386 women and 8564 men from North Holland, the Netherlands, who experienced an out-of-hospital cardiac arrest from a cardiac cause in 2005 to 2017.

Elevated levels of citrullinated fibrinogen in patients with cancer.

Neutrophil released peptidyl arginine deiminase 4 (PAD4) converts arginine residues on plasma proteins into citrulline. Here, we developed an assay to quantify citrullinated fibrinogen. We employed a biotin-conjugated phenylglyoxal (biotin-phenylglyoxal (PG)) compound that selectively labels citrulline.

Critical aspects in dissolution testing of nanomaterials in the oro-gastrointestinal tract: the relevance of juice composition for hazard identification and grouping.

The dissolution of a nanomaterial (NM) in an simulant of the oro-gastrointestinal (OGI) tract is an important predictor of its biodurability . The cascade addition of simulated digestive juices (saliva, stomach and intestine), including inorganic/organic biomacromolecules and digestive enzymes (complete composition, referred to as "Type 1 formulation"), strives for realistic representation of chemical composition of the OGI tract. However, the data robustness requires consideration of analytical feasibility, such as the use of simplified media.

Symptomatic creatine phosphokinase elevation in a Crohn's disease patient caused by upadacitinib.

We present a Crohn's disease patient receiving high dose upadacitinib treatment with elevated CPK levels and myopathy, and provide the reader with practical tips on stopping and restarting upadacitinib, emphasizing the need for adequate monitoring.

Microvascular Dysfunction and Whole-Brain White Matter Connectivity: The Maastricht Study.

Background: Microvascular dysfunction is involved in the development of various cerebral disorders. It may contribute to these disorders by disrupting white matter tracts and altering brain connectivity, but evidence is scarce. We investigated the association between multiple biomarkers of microvascular function and whole-brain white matter connectivity.

Acute Coronary Syndrome Subphenotypes Based on Repeated Biomarker Measurements in Relation to Long-Term Mortality Risk.

Background: We aimed to identify patients with subphenotypes of postacute coronary syndrome (ACS) using repeated measurements of high-sensitivity cardiac troponin T, N-terminal pro-B-type natriuretic peptide, high-sensitivity C-reactive protein, and growth differentiation factor 15 in the year after the index admission, and to investigate their association with long-term mortality risk.

Methods And Results: BIOMArCS (BIOMarker Study to Identify the Acute Risk of a Coronary Syndrome) was an observational study of patients with ACS, who underwent high-frequency blood sampling for 1 year. Biomarkers were measured in a median of 16 repeated samples per individual.

Soluble Suppression of Tumorigenicity-2 Predicts Mortality and Right Heart Failure in Patients With a Left Ventricular Assist Device.

Background: Soluble suppression of tumorigenicity-2 (sST2) predicts mortality in patients with heart failure. The predictive value of sST2 in patients with a left ventricular assist device remains unknown. Therefore, we studied the relationship between sST2 and outcome after left ventricular assist device implantation.

Subhairline Electroencephalography for the Detection of Large Vessel Occlusion Stroke.

Background: Endovascular thrombectomy is standard treatment for patients with anterior circulation large vessel occlusion stroke (LVO-a). Prehospital identification of these patients would enable direct routing to an endovascular thrombectomy-capable hospital and consequently reduce time-to-endovascular thrombectomy. Electroencephalography (EEG) has previously proven to be promising for LVO-a stroke detection.

Two-year trajectories of COVID-19 symptoms and their association with illness perception: A prospective cohort study in Amsterdam, the Netherlands.

Background: We used data from a prospective cohort to explore 2-year trajectories of 'long COVID' (persistent symptoms after SARS-CoV-2 infection) and their association with illness perception.

Methods: RECoVERED participants (adults; prospectively enrolled following laboratory-confirmed SARS-CoV-2 infection, May 2020-June 2021) completed symptom questionnaires at months 2-12, 18 and 24, and the Brief Illness Perception Questionnaire (B-IPQ) at months 1, 6 and 12. Using group-based trajectory models (GBTM), we modelled symptoms (mean total numbers and proportion with four specific complaints), including age, sex, BMI and timing of infection as covariates.

The effects of COVID-19 on child mental health: Biannual assessments up to April 2022 in a clinical and two general population samples.

Background: The COVID-19 pandemic has had an acute impact on child mental and social health, but long-term effects are still unclear. We examined how child mental health has developed since the start of the COVID-19 pandemic up to 2 years into the pandemic (April 2022).

Methods: We included children (age 8-18) from two general population samples ( = 222-1333 per measurement and  = 2401-13,362 for pre-covid data) and one clinical sample receiving psychiatric care ( = 334-748).

Sustained improvements by behavioural parent training for children with attention-deficit/hyperactivity disorder: A meta-analytic review of longer-term child and parental outcomes.

Background: Behavioural parent training is an evidence-based intervention for children with attention-deficit/hyperactivity disorder (ADHD), but little is known about the extent to which initial benefits are maintained.

Aims: This meta-analytic review investigated longer-term (i.e.

Appendicitis and its associated mortality and morbidity in infants up to 3 months of age: A systematic review.

Background And Aims: Although appendicitis is rare in young infants, the reported mortality is high. Primary aim of this systematic review was to provide updated insights in the mortality and morbidity (postoperative complications, Clavien-Dindo grades I-IV) of appendicitis in infants ≤3 months of age. Secondary aims comprised the evaluation of patient characteristics, diagnostic work-up, treatment strategies, comorbidity, and factors associated with poor outcome.

Diagnostic Accuracy of the Standing Test in Adults Suspected for Congenital Long-QT Syndrome.

Background An elegant bedside provocation test has been shown to aid the diagnosis of long-QT syndrome (LQTS) in a retrospective cohort by evaluation of QT intervals and T-wave morphology changes resulting from the brief tachycardia provoked by standing. We aimed to prospectively determine the potential diagnostic value of the standing test for LQTS. Methods and Results In adults suspected for LQTS who had a standing test, the QT interval was assessed manually and automated.

Variation in the management of cT1 renal cancer by surgical hospital volume: A nationwide study.

Objectives: To analyse variation in clinical management of cT1 renal cell carcinoma (RCC) in the Netherlands related to surgical hospital volume (HV).

Materials And Methods: Patients diagnosed with cT1 RCC during 2014-2020 were identified in the Netherlands Cancer Registry. Patient and tumour characteristics were retrieved.

Rationale and design of the ABOARD project (A Personalized Medicine Approach for Alzheimer's Disease).

Unlabelled: The key to stopping Alzheimer's disease (AD) lies in the pre-dementia stages, with the goal to stop AD before dementia has started. We present the rationale and design of the ABOARD (A Personalized Medicine Approach for Alzheimer's Disease) project, which aims to invest in personalized medicine for AD. ABOARD is a Dutch public-private partnership of 32 partners, connecting stakeholders from a scientific, clinical, and societal perspective.

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X () Gene Has Phenotypic Features of Marshall-Smith Syndrome.

The nuclear factor I/X () gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities, namely, Malan syndrome (MAL) and Marshall-Smith syndrome (MSS). mutations associated with MAL mainly cluster in exon 2 and are cleared by nonsense-mediated decay (NMD) leading to NFIX haploinsufficiency, whereas mutations associated with MSS are clustered in exons 6-10 and escape NMD and result in the production of dominant-negative mutant NFIX proteins. Thus, different mutations have distinct consequences on expression.

Determinants of informal care time, distress, depression, and quality of life in care partners along the trajectory of Alzheimer's disease.

Introduction: We evaluated determinants associated with care partner outcomes along the Alzheimer's disease (AD) stages.

Methods: We included = 270 care partners of amyloid-positive patients in the pre-dementia and dementia stages of AD. Using linear regression analysis, we examined determinants of four care partner outcomes: informal care time, caregiver distress, depression, and quality of life (QoL).

History and the Study of Religion. Prophecy, Imagination and Religion in the Granadan Lead Books, the Works of Jacobus Palaeologus and of Nicholas of Cusa.

This article challenges the observation that historians and the discipline of History have not been helpful in addressing some of the important challenges in the Study of Religion by concentrating on "the local" and on deconstruction rather than on construction and "the global." By undertaking a cross-cultural case study - Medieval and Early Modern prophecies in the Muslim world and Europe - and focusing on the role and significance of the Granadan Sacromonte Lead Books (1588-1606) and the work of the radical Antitrinitarian Jacobus Paleologus (1520-1585), this paper argues that global and connected microhistorical approaches have been of great value to developing the promising trend of a relational approach in the Study of Religion.

Long-term fire and vegetation change in northwestern Amazonia.

Amazonian forest plots are used to quantify biodiversity and carbon sequestration, and provide the foundation for much of what is known about tropical ecology. Many plots are assumed to be undisturbed, but recent work suggests that past fire, forest openings, and cultivation created vegetation changes that have persisted for decades to centuries (ecological legacies). The Yasuní Forest Dynamics plot is one of the most biodiverse places on earth, yet its human history remains unknown.

Using selection models to assess sensitivity to publication bias: A tutorial and call for more routine use.

In meta-analyses, it is critical to assess the extent to which publication bias might have compromised the results. Classical methods based on the funnel plot, including Egger's test and Trim-and-Fill, have become the de facto default methods to do so, with a large majority of recent meta-analyses in top medical journals (85%) assessing for publication bias exclusively using these methods. However, these classical funnel plot methods have important limitations when used as the sole means of assessing publication bias: they essentially assume that the publication process favors large point estimates for small studies and does not affect the largest studies, and they can perform poorly when effects are heterogeneous.