Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.

Background: A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.

Analysis and prediction of condylar resorption following orthognathic surgery.

Condylar resorption is a feared complication of orthognathic surgery. This study investigated condylar resorption in a cohort of 200 patients This allowed for a powerful update on incidence and risk factors. 9.

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.

Human craniofacial shape is highly variable yet highly heritable with numerous genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using achondroplasia as an example, we introduce a syndrome-informed phenotyping approach to identify genomic loci associated with achondroplasia-like facial variation in the general population. We compare three-dimensional facial scans from 43 individuals with achondroplasia and 8246 controls to calculate achondroplasia-like facial scores.

Mapping genes for human face shape: Exploration of univariate phenotyping strategies.

Human facial shape, while strongly heritable, involves both genetic and structural complexity, necessitating precise phenotyping for accurate assessment. Common phenotyping strategies include simplifying 3D facial features into univariate traits such as anthropometric measurements (e.g.

Polygenic risk scores in the clinic: a systematic review of stakeholders' perspectives, attitudes, and experiences.

Polygenic Risk Scores (PRS) are statistical methods estimating part of an individual's genetic susceptibility to various disease phenotypes. Their potential clinical applications to enhance the prediction, prevention, and risk management of complex conditions motivate current research efforts worldwide. While a growing body of literature has highlighted the scientific and ethical limitations of PRS, the technology's clinical translation will present both opportunities and challenges for the stakeholders involved.

Multiple paralogues and recombination mechanisms contribute to the high incidence of 22q11.2 Deletion Syndrome.

The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder.

Toward 3D facial analysis for recognizing Mendelian causes of autism spectrum disorder.

Recognizing Mendelian causes is crucial in molecular diagnostics and counseling for patients with autism spectrum disorder (ASD). We explored facial dysmorphism and facial asymmetry in relation to genetic causes in ASD patients and studied the potential of objective facial phenotyping in discriminating between Mendelian and multifactorial ASD. In a cohort of 152 ASD patients, 3D facial images were used to calculate three metrics: a computational dysmorphism score, a computational asymmetry score, and an expert dysmorphism score.

T1-weighted Motion Mitigation in Abdominal MRI: Technical Principles, Clinical Applications, Current Limitations, and Future Prospects.

T1-weighted (T1W) pulse sequences are an indispensable component of clinical protocols in abdominal MRI but usually require multiple breath holds (BHs) during the examination, which not all patients can sustain. Patient motion can affect the quality of T1W imaging so that key diagnostic information, such as intrinsic signal intensity and contrast enhancement image patterns, cannot be determined. Patient motion also has a negative impact on examination efficiency, as multiple acquisition attempts prolong the duration of the examination and often remain noncontributory.

Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome.

The 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder.

Taking the risk. A systematic review of ethical reasons and moral arguments in the clinical use of polygenic risk scores.

Debates about the prospective clinical use of polygenic risk scores (PRS) have grown considerably in the last years. The potential benefits of PRS to improve patient care at individual and population levels have been extensively underlined. Nonetheless, the use of PRS in clinical contexts presents a number of unresolved ethical challenges and consequent normative gaps that hinder their optimal implementation.

Safety and Effectiveness of Vedolizumab and Ustekinumab in Elderly Patients with Inflammatory Bowel Disease: A Real-Life Multicentric Cohort Study.

Background: Data on ustekinumab and vedolizumab in the elderly inflammatory bowel disease (IBD) population are limited. The aim of the current study was to assess the safety and effectiveness of both in an elderly real-life population.

Methods: A multicentric retrospective study was performed on IBD patients who started vedolizumab or ustekinumab between 2010 and 2020.

Exploring attitudes and experiences with reproductive genetic carrier screening among couples seeking medically assisted reproduction: a longitudinal survey study.

Purpose: This study aimed to assess the attitudes and experiences of subfertile couples applying for medically assisted reproduction (MAR) using their own gametes towards reproductive genetic carrier screening (RGCS) for monogenic conditions.

Methods: A prospective survey study was conducted where subfertile couples were recruited from the fertility centre of a university hospital in Flanders, Belgium. Participants were offered RGCS free of charge and completed self-administered questionnaires at three different time points.

Syndrome-informed phenotyping identifies a polygenic background for achondroplasia-like facial variation in the general population.

Human craniofacial shape is highly variable yet highly heritable with genetic variants interacting through multiple layers of development. Here, we hypothesize that Mendelian phenotypes represent the extremes of a phenotypic spectrum and, using achondroplasia as an example, we introduce a syndrome-informed phenotyping approach to identify genomic loci associated with achondroplasia-like facial variation in the normal population. We compared three-dimensional facial scans from 43 individuals with achondroplasia and 8246 controls to calculate achondroplasia-like facial scores.

Methyl oleate for plant protection products formulations: Enzymatic synthesis, reaction kinetics and application testing.

This study presents a solvent-free enzymatic approach for the synthesis of fatty acid methyl esters (FAMEs), such as methyl oleate, for their application as adjuvant in plant protection products (PPP) formulations. The direct esterification between free fatty acid and methanol was optimized to achieve 98% acid conversion. The kinetics of this conversion was accurately described by a simple second order mechanism and non-linear regression was applied to calculate the rate constants of the forward and backward reactions based on full progress curves data.

Early Versus Late Use of Vedolizumab in Ulcerative Colitis: Clinical, Endoscopic, and Histological Outcomes.

Background And Aims: We explored the potential for differential efficacy of vedolizumab between early and late ulcerative colitis [UC] with evaluation of clinical, endoscopic, and histological endpoints.

Methods: This was a multicentre, multinational, open-label study in patients with moderately-to-severely active UC, defining early UC by a disease duration <4 years and bio-naïve and late UC by a disease duration > 4 years and additional exposure to tumour necrosis factor antagonists. Patients received standard treatment with intravenous vedolizumab for 52 weeks [300 mg Weeks 0, 2, 6, every 8 weeks thereafter without escalation].

EUS-guided transrectal drainage of pelvic abscesses: a retrospective analysis of 17 patients.

Background: Pelvic abscess is a common complication of abdominal surgery or intestinal or gynecological diseases. Over the last decades, endoscopic ultrasound (EUS)-guided drainage has emerged as a minimally invasive alternative to percutaneous or surgical treatment of pelvic abscesses.

Aim: To evaluate safety and efficacy of EUS-guided transrectal pelvic abscess drainage in a single center.

Data-driven trait heritability-based extraction of human facial phenotypes.

A genome-wide association study (GWAS) of a complex, multi-dimensional morphological trait, such as the human face, typically relies on predefined and simplified phenotypic measurements, such as inter-landmark distances and angles. These measures are predominantly designed by human experts based on perceived biological or clinical knowledge. To avoid use handcrafted phenotypes (i.

[Sustainability in Flemish and Dutch mental health care].

Background: The Flemish and Dutch (mental) health sectors cause greenhouse gas emissions and therefore will have to make an effort to reduce their climate impact.

Aim: To assess whether differences can be found in the climate policies of Flemish and Dutch mental health institutions.

Method: Descriptive research based on a sustainability questionnaire, in which concrete actions, objectives and ambitions in the field of sustainability were questioned at Flemish and Dutch mental health institutions.

Bedtime negotiations: Unravelling normative complexity in hospital-based prevention.

This study explores how actors deal with normative complexity in the design and implementation of practices of preventative care. Previous studies have identified conflicting (e)valuations of prevention within health care at large, but little empirical research describes how these conflicts are resolved in day-to-day interactions. Zooming in on the work of a single actor, our ethnographic study describes a Dutch psychiatrist developing a novel type of hospital bed that provides preventative psychiatric care for women in the post-partum period.

Experiences of nonpregnant couples after receiving reproductive genetic carrier screening results in Belgium.

Reproductive genetic carrier screening (RGCS) allows for the identification of couples who have an increased likelihood of conceiving a child with a particular autosomal recessive or X-linked condition. The aim of this study was to assess the level of satisfaction, anxiety, knowledge retention, psychosocial and counseling-related aspects among couples who chose to have RGCS. Participants were initially informed about their screening results by telephone.