Validation of SynthSeg segmentation performance on CT using paired MRI from radiotherapy patients.

Introduction: Manual segmentation of medical images is labor intensive and especially challenging for images with poor contrast or resolution. The presence of disease exacerbates this further, increasing the need for an automated solution. To this extent, SynthSeg is a robust deep learning model designed for automatic brain segmentation across various contrasts and resolutions.

Impact of Persistent Pulmonary Hypertension of the Newborn in Neonates with Dextro-transposition of the Great Arteries.

Objectives: This study aimed to assess the impact of persistent pulmonary hypertension of the newborn (PPHN) on perioperative morbidity and mortality in patients with dextro-transposition of the great arteries. Secondarily, we evaluated the association between postoperative outcomes and intraoperative variables including the duration of cardiopulmonary bypass, cerebral oxygen desaturation, and hypotension.

Design: Retrospective observational study.

Natural history in Malan syndrome: survey of 28 adults and literature review.

Background: Malan syndrome (MALNS), previously referred to as "Sotos syndrome 2" due to its resemblance to Sotos syndrome (SS), is an ultra-rare neurodevelopmental disorder characterized by overgrowth, typical craniofacial features, intellectual disability (ID), and a range of psychobehavioral, musculoskeletal, vision and neurological signs. As MALNS and SS partly overlap, it is essential to more accurately profile their clinical presentations and highlight their differences in order to improve syndrome specific management. An increasing number of individuals with MALNS reach adult-age though the natural history of the disorder is poorly characterized due to the small number of adult individuals described so far.

Participatory Development of an Integrated, eHealth-Supported, Educational Care Pathway (Diabetes Box) for People With Type 2 Diabetes: Development and Usability Study.

Background: Type 2 diabetes (T2D) tremendously affects patient health and health care globally. Changing lifestyle behaviors can help curb the burden of T2D. However, health behavior change is a complex interplay of medical, behavioral, and psychological factors.

Impact of a Public Health Emergency on Behavior, Stress, Anxiety and Glycemic Control in Patients With Pancreas or Islet Transplantation for Type 1 Diabetes.

A public health emergency such as the COVID-19 pandemic has behavioral, mental and physical implications in patients with type 1 diabetes (T1D). To what extent the presence of a transplant further increases this burden is not known. Therefore, we compared T1D patients with an islet or pancreas transplant (β-cell Tx; = 51) to control T1D patients ( = 272).

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder caused by pathogenic variants in TCF4, leading to intellectual disability, specific morphological features, and autonomic nervous system dysfunction. Epigenetic dysregulation has been implicated in PTHS, prompting the investigation of a DNA methylation (DNAm) "episignature" specific to PTHS for diagnostic purposes and variant reclassification and functional insights into the molecular pathophysiology of this disorder. A cohort of 67 individuals with genetically confirmed PTHS and three individuals with intellectual disability and a variant of uncertain significance (VUS) in TCF4 were studied.

Examining a sentiment algorithm on session patient records in an eating disorder treatment setting: a preliminary study.

Background: Clinicians collect session therapy notes within patient session records. Session records contain valuable information about patients' treatment progress. Sentiment analysis is a tool to extract emotional tones and states from text input and could be used to evaluate patients' sentiment during treatment over time.

SMC1A epilepsy syndrome: clinical data from a large international cohort.

SMC1A epilepsy syndrome or developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85, OMIM #301044) is an X-linked neurologic disorder associated with mutations of the SMC1A gene, which is also responsible for about 5% of patients affected by Cornelia de Lange syndrome spectrum (CdLS). Only described in female patients, SMC1A epilepsy syndrome is characterized by the onset of severe refractory epileptic seizures in the first year of life, global developmental delay, a variable degree of intellectual disability, and dysmorphic facial features not typical of CdLS. This was a descriptive observational study for the largest international cohort with this specific disorder.

Clinical impact of an integrated e-health system for diabetes self-management support and shared decision making (POWER2DM): a randomised controlled trial.

Aims/hypothesis: There is a lack of e-health systems that integrate the complex variety of aspects relevant for diabetes self-management. We developed and field-tested an e-health system (POWER2DM) that integrates medical, psychological and behavioural aspects and connected wearables to support patients and healthcare professionals in shared decision making and diabetes self-management.

Methods: Participants with type 1 or type 2 diabetes (aged >18 years) from hospital outpatient diabetes clinics in the Netherlands and Spain were randomised using randomisation software to POWER2DM or usual care for 37 weeks.

Tacit knowledge in dyads of persons with profound intellectual and multiple disabilities and their caregivers: An interpretative literature study.

Background: Caring for persons with profound intellectual and multiple disabilities (PIMD) demands specific expertise. Tacit knowledge seems to play an important role, but little is known about its nature, including what is necessary for its development and transfer.

Aim: To gain understanding of the nature and development of tacit knowledge between persons with PIMD and their caregivers.

An improved Chemcatcher-based method for the integrative passive sampling of 44 hydrophilic micropollutants in surface water - Part B: Field implementation and comparison with automated active sampling.

Integrative passive sampling is particularly useful in the monitoring of hydrophilic contaminants in surface water, but the impact of hydrodynamics on contaminant uptake still needs to be better considered. In part A (Glanzmann et al., 2023), Chemcatcher-like hydrophilic samplers (i.

Recent developments of turbulent emulsions in Taylor-Couette flow.

Emulsions are common in many natural and industrial settings. Recently, much attention has been paid to understanding the dynamics of turbulent emulsions. This paper reviews some recent studies of emulsions in turbulent Taylor-Couette flow, mainly focusing on the statistics of the dispersed phase and the global momentum transport of the system.

Sodium chloride inhibits effective bubbly drag reduction in turbulent bubbly Taylor-Couette flows.

Using the Taylor-Couette geometry we experimentally investigate the effect of salt on drag reduction caused by bubbles present in the flow. We combine torque measurements with optical high-speed imaging to relate the bubble size to the drag experienced by the flow. Previous studies have shown that a small percentage of air (4%) can lead to dramatic drag reduction (40%).

Compartmentalized Intracellular Click Chemistry with Biodegradable Polymersomes.

Polymersome nanoreactors that can be employed as artificial organelles have gained much interest over the past decades. Such systems often include biological catalysts (i.e.

Fatal gastrointestinal complications in Pitt-Hopkins syndrome.

Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by mutations of the transcription factor 4 (Tcf4) gene. Individuals with PTHS often suffer from severe abdominal bloating and constipation. In this short communication, we discuss two individuals with PTHS who died unexpectedly due to gastrointestinal complications.

Prevalence, associations and health outcomes of binge eating in adults with type 1 or type 2 diabetes: Results from Diabetes MILES - The Netherlands.

Aims: To examine the prevalence and health risks of binge eating in people with diabetes.

Methods: Self-report data were analysed from a subsample (n = 582 type 1 diabetes/735 type 2 diabetes) of Diabetes MILES - the Netherlands, an online survey. Prevalence of binge eating was compared across diabetes type and treatment and between participants with and without binges for eating styles, diabetes treatment and outcomes, weight, BMI and psychological comorbidity.

Quantifying the post-radiation accelerated brain aging rate in glioma patients with deep learning.

Background And Purpose: Changes of healthy appearing brain tissue after radiotherapy (RT) have been previously observed. Patients undergoing RT may have a higher risk of cognitive decline, leading to a reduced quality of life. The experienced tissue atrophy is similar to the effects of normal aging in healthy individuals.

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience.

The existing knowledge about morbidity in adults with Rubinstein-Taybi syndrome (RTS) is limited and detailed data on their natural history and response to management are needed for optimal care in later life. We formed an international, multidisciplinary working group that developed an accessible questionnaire including key issues about adults with RTS and disseminated this to all known RTS support groups via social media. We report the observations from a cohort of 87 adult individuals of whom 43 had a molecularly confirmed diagnosis.

Broken Mirror Symmetry of Tracer's Trajectories in Turbulence.

Topological properties of physical systems play a crucial role in our understanding of nature, yet their experimental determination remains elusive. We show that the mean helicity, a dynamical invariant in ideal flows, quantitatively affects trajectories of fluid elements: the linking number of Lagrangian trajectories depends on the mean helicity. Thus, a global topological invariant and a topological number of fluid trajectories become related, and we provide an empirical expression linking them.

Cornelia de Lange syndrome and the Cohesin complex: Abstracts from the 9th Biennial Scientific and Educational Virtual Symposium 2020.

Cornelia de Lange syndrome (CdLS) is a spectrum disorder due to variants in genes of the cohesin protein complex. The following abstracts are from the Cornelia de Lange Syndrome Scientific and Educational Symposium held virtually in October 2020. Aspects of behavior, including autistic features, impulsivity, adaptive skills, executive function, and anxiety are described.

High rate of autonomic neuropathy in Cornelia de Lange Syndrome.

Background: Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence.

Method: Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing.