Cost-Effectiveness Analysis of Family-Based Treatment With Additional Home Treatment for Adolescent Anorexia Nervosa.

Objective: Family-based treatment (FBT) is promising for treating adolescents with anorexia nervosa, but long-term remission rates are modest. Home treatment (HT) as a supplement to FBT aims to enhance sustainability and effectiveness by supporting recovery within the family. This study compares the cost-effectiveness of FBT alone versus FBT with additional HT for adolescents with anorexia nervosa.

Retinal Dystrophy Associated with Homozygous Variants in .

: Neural retina leucine zipper (NRL) is a transcription factor involved in the differentiation of rod photoreceptors. Pathogenic variants in the gene encoding NRL have been associated with autosomal dominant retinitis pigmentosa and autosomal recessive clumped pigmentary retinal degeneration. Only a dozen unrelated families affected by recessive -related retinal dystrophy have been described.

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic Allele.

Stargardt disease (STGD1) is an autosomal recessive disorder caused by pathogenic variants in that affects the retina and is characterised by progressive central vision loss. The onset of disease manifestations varies from childhood to early adulthood. Whole exome (WES), whole gene, and whole genome sequencing (WGS) were performed for a patient with STGD1.

Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease.

Variants in the gene cause Norrie disease, a severe dual-sensory disorder characterized by congenital blindness due to disrupted retinal vascular development and progressive hearing loss accompanied by sensory hair cell death. encodes the secreted signaling molecule norrin. The role of norrin in the cochlea is incompletely understood.

Memantine treatment in sickle cell disease: A 1-year study of its effects on cognitive functions and neural processing.

This study evaluates the neurocognitive and electrophysiological effects of 1-year memantine treatment in 14 adolescents and young adults (mean age 24 years) with sickle cell disease (SCD, incluing sickle cell anaemia and sickle cell β-thalassemia), hypothesizing improvements in cognitive functions and neural processing. Participants underwent assessments using subtests from the Wechsler Intelligence Scale and a computerized task-switching paradigm with concurrent event-related potential (ERP) recordings, both before and after the treatment period. Assessments focused on processing speed, working memory, attention and executive function.

Long-term impact of maternal prenatal smoking on EEG brain activity and internalizing/externalizing problem symptoms in young adults.

Objective: The objective of this study was to investigate the impact of smoking during pregnancy on the development of the child. While previous research has established its detrimental effects during early childhood, understanding potential long-term consequences into adulthood remains limited. This study specifically aimed to explore the influence of prenatal smoking exposure on brain activity and whether internalizing and externalizing symptoms are influenced by prenatal smoking exposure in a cohort of young adults.

Erythropoietin regulates energy metabolism through EPO-EpoR-RUNX1 axis.

Erythropoietin (EPO) plays a key role in energy metabolism, with EPO receptor (EpoR) expression in white adipose tissue (WAT) mediating its metabolic activity. Here, we show that male mice lacking EpoR in adipose tissue exhibit increased fat mass and susceptibility to diet-induced obesity. Our findings indicate that EpoR is present in WAT, brown adipose tissue, and skeletal muscle.

Size of lipid emulsion droplets influences metabolism in human CD4 T cells.

Scope: Triglyceride-based lipid emulsions are critical for total parenteral nutrition (TPN), but their long-term use has adverse effects, such as severe liver dysfunction necessitating improved formulations. This study compares the uptake mechanism and intracellular fate of novel glycerol-stabilized nano-sized lipid emulsions with conventional emulsions in CD4 T cells, focusing on their impact on cellular metabolism.

Methods And Results: Nanoemulsions were formulated with increased glycerol content.

Generation of induced pluripotent stem cells from ADHD patients who do or do not respond to Methylphenidate treatment.

As a neurodevelopmental multifactorial disorder whose prevalence has been increasing worldwide, attention-deficit hyperactivity disorder (ADHD) is considered a public health concern. Methylphenidate (MPH) is the drug of choice for ADHD; however, not all patients respond fully to this treatment. Therefore, exploring the underlying molecular mechanisms involved in ADHD and potential novel therapeutic targets is crucial.

Prediction of major arrhythmic outcomes in ischaemic cardiomyopathy: value of hibernating myocardium in positron emission tomography/computed tomography.

Aims: Known predictors of major arrhythmic events (MAEs) in patients with ischaemic cardiomyopathy (ICM) include previous MAE and left ventricular ejection fraction (LVEF) ≤ 35%. Myocardial scars detected by perfusion imaging in ICM have been linked to MAE, but the prognostic significance of hibernating myocardium (HM) is unclear. The objective was to predict MAEs from combined 13N-ammonia (NH3) and 18F-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) in ICM.

Role of Piezo1 in Terminal Density Reversal of Red Blood Cells.

Density reversal of senescent red blood cells has been known for a long time, yet the identity of the candidate ion transporter(s) causing the senescent cells to swell is still elusive. While performing fractionation of RBCs from healthy individuals in Percoll density gradient and characterization of the separated fractions, we identified a subpopulation of cells in low-density fraction (1.02% ± 0.

A Comprehensive Insight and In Silico Analysis of CircRNAs in Hepatocellular Carcinoma: A Step toward ncRNA-Based Precision Medicine.

Circular RNAs (circRNAs) are cardinal players in numerous physiological and pathological processes. CircRNAs play dual roles as tumor suppressors and oncogenes in different oncological contexts, including hepatocellular carcinoma (HCC). Their roles significantly impact the disease at all stages, including initiation, development, progression, invasion, and metastasis, in addition to the response to treatment.

Timing and cortical region matter: theta power differences between teenagers affected by Major Depression and healthy controls.

In adults affected by Major Depressive Disorder (MDD), most findings point to higher electroencephalographic (EEG) theta power during wake compared to healthy controls (HC) as a potential biomarker aiding the diagnostic process or subgrouping for stratified treatment. Besides these group differences, theta power is modulated by time of day, sleep/wake history, and age. Thus, we aimed at assessing if the time of recording alters theta power in teenagers affected by MDD or HC.

A genome-wide association meta-analysis of all-cause and vascular dementia.

Introduction: Dementia is a multifactorial disease with Alzheimer's disease (AD) and vascular dementia (VaD) pathologies making the largest contributions. Yet, most genome-wide association studies (GWAS) focus on AD.

Methods: We conducted a GWAS of all-cause dementia (ACD) and examined the genetic overlap with VaD.

Fas (CD95) expression in adipocytes contributes to diet-induced obesity.

Objective: Induction of browning in white adipose tissue (WAT) increases energy expenditure and may be an attractive target for the treatment of obesity. Since activation of Fas (CD95) induces pathways known to blunt expression of uncoupling protein 1 (UCP1), we hypothesized that Fas expression in adipocytes inhibits WAT browning and thus contributes to the development of obesity.

Methods: Adipocyte-specific Fas knockout (Fas) and control littermate (Fas) mice were fed a regular chow diet or a high-fat diet (HFD) for 20 weeks.

Identification and Characterization of ATOH7-Regulated Target Genes and Pathways in Human Neuroretinal Development.

The proneural transcription factor atonal basic helix-loop-helix transcription factor 7 () is expressed in early progenitors in the developing neuroretina. In vertebrates, this is crucial for the development of retinal ganglion cells (RGCs), as mutant animals show an almost complete absence of RGCs, underdeveloped optic nerves, and aberrations in retinal vessel development. Human mutations are rare and result in autosomal recessive optic nerve hypoplasia (ONH) or severe vascular changes, diagnosed as autosomal recessive persistent hyperplasia of the primary vitreous (PHPVAR).

Energy expenditure estimation during activities of daily living in middle-aged and older adults using an accelerometer integrated into a hearing aid.

Background: Accelerometers were traditionally worn on the hip to estimate energy expenditure (EE) during physical activity but are increasingly replaced by products worn on the wrist to enhance wear compliance, despite potential compromises in EE estimation accuracy. In the older population, where the prevalence of hearing loss is higher, a new, integrated option may arise. Thus, this study aimed to investigate the accuracy and precision of EE estimates using an accelerometer integrated into a hearing aid and compare its performance with sensors simultaneously worn on the wrist and hip.

Novel Insights into the Aortic Mechanical Properties of Mice Modeling Hereditary Aortic Diseases.

Objective:  Hereditary aortic diseases (hADs) increase the risk of aortic dissections and ruptures. Recently, we have established an objective approach to measure the rupture force of the murine aorta, thereby explaining the outcomes of clinical studies and assessing the added value of approved drugs in vascular Ehlers-Danlos syndrome (vEDS). Here, we applied our approach to six additional mouse hAD models.

: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.

Large-scale next-generation sequencing (NGS) germline testing is technically feasible today, but variant interpretation represents a major bottleneck in analysis workflows. This includes extensive variant prioritization, annotation, and time-consuming evidence curation. The scale of the interpretation problem is massive, and variants of uncertain significance (VUSs) are a challenge to personalized medicine.