Evaluating Contextual Models for Intensive Longitudinal Data in the Presence of Noise.

Nowadays research into affect frequently employs intensive longitudinal data to assess fluctuations in daily emotional experiences. The resulting data are often analyzed with moderated autoregressive models to capture the influences of contextual events on the emotion dynamics. The presence of noise (e.

Mixture multilevel vector-autoregressive modeling.

With the rising popularity of intensive longitudinal research, the modeling techniques for such data are increasingly focused on individual differences. Here we present mixture multilevel vector-autoregressive modeling, which extends multilevel vector-autoregressive modeling by including a mixture, to identify individuals with similar traits and dynamic processes. This exploratory model identifies mixture components, where each component refers to individuals with similarities in means (expressing traits), autoregressions, and cross-regressions (expressing dynamics), while allowing for some interindividual differences in these attributes.

A comprehensive model framework for between-individual differences in longitudinal data.

Across different fields of research, the similarities and differences between various longitudinal models are not always eminently clear due to differences in data structure, application area, and terminology. Here we propose a comprehensive model framework that will allow simple comparisons between longitudinal models, to ease their empirical application and interpretation. At the within-individual level, our model framework accounts for various attributes of longitudinal data, such as growth and decline, cyclical trends, and the dynamic interplay between variables over time.

Feasibility and early clinical impact of precision medicine for late-stage cancer patients in a regional public academic hospital.

Aim: Our goal was to describe a precision medicine program in a regional academic hospital, characterize features of included patients and present early data on clinical impact.

Materials And Methods: We prospectively included 163 eligible patients with late-stage cancer of any diagnosis from June 2020 to May 2022 in the Proseq Cancer trial. Molecular profiling of new or fresh frozen tumor biopsies was done by WES and RNAseq with parallel sequencing of non-tumoral DNA as individual reference.

A phylogeny of the genus Limia (Teleostei: Poeciliidae) suggests a single-lake radiation nested in a Caribbean-wide allopatric speciation scenario.

Objective: The Caribbean is an important global biodiversity hotspot. Adaptive radiations there lead to many speciation events within a limited period and hence are particularly prominent biodiversity generators. A prime example are freshwater fish of the genus Limia, endemic to the Greater Antilles.

Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.

TARS2 encodes human mitochondrial threonyl tRNA-synthetase that is responsible for generating mitochondrial Thr-tRNAThr and clearing mischarged Ser-tRNAThr during mitochondrial translation. Pathogenic variants in TARS2 have hitherto been reported in a pair of siblings and an unrelated patient with an early onset mitochondrial encephalomyopathy and a combined respiratory chain enzyme deficiency in muscle. We here report five additional unrelated patients with TARS2-related mitochondrial diseases, expanding the clinical phenotype to also include epilepsy, dystonia, hyperhidrosis and severe hearing impairment.

Cell-based non-invasive prenatal testing for monogenic disorders: confirmation of unaffected fetuses following preimplantation genetic testing.

Purpose: Proof of concept of the use of cell-based non-invasive prenatal testing (cbNIPT) as an alternative to chorionic villus sampling (CVS) following preimplantation genetic testing for monogenic disorders (PGT-M).

Method: PGT-M was performed by combined testing of short tandem repeat (STR) markers and direct mutation detection, followed by transfer of an unaffected embryo. Patients who opted for follow-up of PGT-M by CVS had blood sampled, from which potential fetal extravillous throphoblast cells were isolated.

National data on the early clinical use of non-invasive prenatal testing in public and private healthcare in Denmark 2013-2017.

Introduction: In Denmark, non-invasive prenatal testing (NIPT) has been used since 2013. We aimed to evaluate the early clinical use of NIPT in Danish public and private healthcare settings before NIPT became an integrated part of the national guidelines on prenatal screening and diagnosis in 2017.

Material And Methods: NIPT data were collected between March 2013 and June 2017 from national public registries and private providers.

Global evolutionary analysis of chronic hepatitis C patients revealed significant effect of baseline viral resistance, including novel non-target sites, for DAA-based treatment and retreatment outcome.

Direct-acting antivirals (DAAs) have proven highly effective against chronic hepatitis C virus (HCV) infection. However, some patients experience treatment failure, associated with resistance-associated substitutions (RASs). Our aim was to investigate the complete viral coding sequence in hepatitis C patients treated with DAAs to identify RASs and the effects of treatment on the viral population.

Use of genetic testing for hypolactasia trait in the North Denmark Region.

Objective: Lactose intolerance (LI) may be considered in patients with unspecific gastrointestinal symptoms, but there is no clear consensus on when and how to diagnose the disorder. The -13910 CC genotype is associated with acquired primary lactase deficiency (adult-type hypolactasia; ATH). We aimed to describe the number of tests and test results in the North Denmark Region considering patient age, geographical origin and repeated testing.

The effect of preregistration on trust in empirical research findings: results of a registered report.

The crisis of confidence has undermined the trust that researchers place in the findings of their peers. In order to increase trust in research, initiatives such as preregistration have been suggested, which aim to prevent various questionable research practices. As it stands, however, no empirical evidence exists that preregistration does increase perceptions of trust.

A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?

Introduction: In assisted reproductive technology, aneuploidy is considered a primary cause of failed embryo implantation. This has led to the implementation of preimplantation genetic testing for aneuploidy in some clinics. The prevalence of aneuploidy and the use of aneuploidy screening during preimplantation genetic testing for inherited disorders has not previously been reviewed.

Insight Into Individual Differences in Emotion Dynamics With Clustering.

Studying emotion dynamics through time series models is becoming increasingly popular in the social sciences. Across individuals, dynamics can be rather heterogeneous. To enable comparisons and generalizations of dynamics across groups of individuals, one needs sophisticated tools that express the essential similarities and differences.

Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.

The aetiology of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, characterized by uterovaginal agenesis in 46,XX women, remains poorly understood. Since familial occurrences are rare, genetic findings reported so far only apply to a minority of mainly sporadic cases and most studies have not included other family members enabling segregation analysis. Herein, we report on the investigation of a unique three-generation family of two female cousins with MRKH syndrome and unilateral renal agenesis (RA) and two deceased male relatives with RA.

[Preimplantation genetic testing for aneuploidy].

This review summarises the current knowledge on preimplantation genetic testing for aneuploidy (PGT-A). Selection and transfer of euploid embryos aim to improve live birth rate (LBR) per embryo transfer, but fluorescence in situ hybridisation-based PGT-A and biopsy of cleavage stage embryos in the 2000s was a disappointment, as studies revealed a reduced LBR. Today, PGT-A includes comprehensive chromosome screening primarily of blastocyst biopsies.

Do Researchers Anchor Their Beliefs on the Outcome of an Initial Study?

As a research field expands, scientists have to update their knowledge and integrate the outcomes of a sequence of studies. However, such integrative judgments are generally known to fall victim to a primacy bias where people anchor their judgments on the initial information. In this preregistered study we tested the hypothesis that people anchor on the outcome of a small initial study, reducing the impact of a larger subsequent study that contradicts the initial result.

Direct acting antiviral treatment of chronic hepatitis C in Denmark: factors associated with and barriers to treatment initiation.

Objectives: We describe factors associated with and barriers to initiation of Direct Acting Antiviral (DAA) treatment in patients with chronic hepatitis C, who fulfill national fibrosis treatment guidelines in Denmark.

Materials And Methods: In this nationwide cohort study, we included patients with chronic hepatitis C from The Danish Database for Hepatitis B and C (DANHEP) who fulfilled fibrosis treatment criteria. Factors associated with treatment initiation and treatment failure were determined by logistic regression analyses.

Individual differences in satisfaction with activity-based work environments.

Satisfaction with activity-based work environments (ABW environments) often falls short of expectations, with striking differences among individual workers. A better understanding of these differences may provide clues for optimising satisfaction with ABW environments and associated organisational outcomes. The current study was designed to examine how specific psychological needs, job characteristics, and demographic variables relate to satisfaction with ABW environments.

Regression assumptions in clinical psychology research practice-a systematic review of common misconceptions.

Misconceptions about the assumptions behind the standard linear regression model are widespread and dangerous. These lead to using linear regression when inappropriate, and to employing alternative procedures with less statistical power when unnecessary. Our systematic literature review investigated employment and reporting of assumption checks in twelve clinical psychology journals.

De novo Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome.

Say-Barber/Biesecker/Young-Simpson syndrome (SBBYSS; OMIM 603736) is a rare syndrome with multiple congenital anomalies/malformations. The clinical diagnosis is usually based on a phenotype with a mask-like face and severe blepharophimosis and ptosis as well as other distinctive facial traits. We present a girl with dysmorphic features, an atrial septal defect, and developmental delay.

Species delimitation and phylogenetic relationships in a genus of African weakly-electric fishes (Osteoglossiformes, Mormyridae, Campylomormyrus).

African weakly-electric fishes (Mormyridae) are able to communicate through species-specific electric signals; this feature might have favoured the evolutionary radiation observed in this family (over 200 species) by acting as an effective pre-zygotic isolation mechanism. In the present study we used mitochondrial (cytb) and nuclear (rps7, scn4aa) markers in order to reconstruct a species-phylogeny and identify species boundaries for the genus Campylomormyrus, by applying inference methods based on the multispecies coalescent model. Additionally, we employed 16 microsatellite markers, landmark-based morphometric measurements, and electro-physiological analyses as independent lines of evidence to the results obtained from the sequence data.