Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.

Dysregulation of genes encoding the homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases has been linked to cancer and structural birth defects. One member of this family, the HECT-domain-containing protein 1 (HECTD1), mediates developmental pathways, including cell signaling, gene expression, and embryogenesis. Through GeneMatcher, we identified 14 unrelated individuals with 15 different variants in HECTD1 (10 missense, 3 frameshift, 1 nonsense, and 1 splicing variant) with neurodevelopmental disorders (NDDs), including autism, attention-deficit/hyperactivity disorder, and epilepsy.

The case against machine vision for the control of wearable robotics: Challenges for commercial adoption.

Deploying machine vision for wearable robot control faces challenges in terms of usability, reliability, privacy, and costs.

[Acute airway obstruction from a retropharyngeal hemorrhage].

A case is reported of a man in his 70s that presented to the emergency department due to difficulty swallowing after a fall. He was found to have a large retropharyngeal hematoma, which led to complete airway obstruction about an hour after the injury. As oral endotracheal intubation was impossible due to the bleeding, an emergency cricothyrotomy was performed in an ambulance by an emergency medicine trainee.

[Trigeminal neuralgia - Overview].

Trigeminal neuralgia is the most common cause of facial pain in individuals over 50 years old and can have a profoundly negative impact on quality of life. Epidemiological studies have measured the annual incidence of trigeminal neuralgia at around 4-5 cases per 100,000 inhabitants per year. In Iceland, this would amount to about 16-20 new cases annually.

Genomic Footprints of Hybridisation in North Atlantic Eels (Anguilla anguilla and A. rostrata).

Understanding interspecific introgressive hybridisation and the biological significance of introgressed variation remains an important goal in population genomics. European (Anguilla anguilla) and American eel (A. rostrata) represent a remarkable case of hybridisation.

Decoherence and vibrational energy relaxation of the electronically excited PtPOP complex in solution.

Understanding the ultrafast vibrational relaxation following photoexcitation of molecules in a condensed phase is essential to predict the outcome and improve the efficiency of photoinduced molecular processes. Here, the vibrational decoherence and energy relaxation of a binuclear complex, [Pt2(P2O5H2)4]4- (PtPOP), upon electronic excitation in liquid water and acetonitrile are investigated through direct adiabatic dynamics simulations. A quantum mechanics/molecular mechanics (QM/MM) scheme is used where the excited state of the complex is modeled with orbital-optimized density functional calculations while solvent molecules are described using potential energy functions.

Transcriptomic Profiling Reveals 17β-Estradiol Treatment Represses Ubiquitin-Proteasomal Mediators in Skeletal Muscle of Ovariectomized Mice.

Background: With a decline of 17β-estradiol (E2) at menopause, E2 has been implicated in the accompanied loss of skeletal muscle mass and strength. We aimed at characterizing transcriptomic responses of skeletal muscle to E2 in female mice, testing the hypothesis that genes and pathways related to contraction and maintenance of mass are differentially expressed in ovariectomized mice with and without E2 treatment.

Methods: Soleus and tibialis anterior (TA) muscles from C57BL/6 ovariectomized mice treated with placebo (OVX) or E2 (OVX + E2) for 60 days, or from skeletal muscle-specific ERα knockout (skmERαKO) mice and wild-type littermates (skmERαWT), were used for genome-wide expression profiling, quantitative real-time PCR and immunoblotting.

Global impact of 10- and 13-valent pneumococcal conjugate vaccines on pneumococcal meningitis in all ages: the PSERENADE project.

Background: Pneumococcal conjugate vaccines (PCVs) introduced in childhood national immunization programs lowered vaccine-type invasive pneumococcal disease (IPD), but replacement with non-vaccine-types persisted throughout the PCV10/13 follow-up period. We assessed PCV10/13 impact on pneumococcal meningitis incidence globally.

Methods: The number of cases with serotyped pneumococci detected in cerebrospinal fluid and population denominators were obtained from surveillance sites globally.

Caffeine, Daytime Sleepiness, and Conduct Problems Among Early Adolescents: A Longitudinal Analysis.

Purpose: Recent research suggests that caffeine use may promote a range of adjustment difficulties among adolescents, particularly during the middle school years. The effects of caffeine are particularly concerning given the increased use of high-dosage caffeine products, such as energy drinks, among youth. We investigated the influence of caffeine use on trajectories of conduct problems among early adolescents.

Long-term exposure to air pollution and greenness in association with respiratory emergency room visits and hospitalizations: The Life-GAP project.

Background: Air pollution has been linked to respiratory diseases, while the effects of greenness remain inconclusive.

Objective: We investigated the associations between exposure to particulate matter (PM and PM), black carbon (BC), nitrogen dioxide (NO), ozone (O), and greenness (normalized difference vegetation index, NDVI) with respiratory emergency room visits and hospitalizations across seven Northern European centers in the European Community Respiratory Health Survey (ECRHS) study.

Methods: We used modified mixed-effects Poisson regression to analyze associations of exposure in 1990, 2000 and mean exposure 1990-2000 with respiratory outcomes recorded duing ECRHS phases II and III.

The experiences of speech-language pathologists when collaborating with spoken language interpreters, multilingual families, and their children with hearing loss.

Purpose: The parents of children who are deaf or hard-of-hearing may require a spoken language interpreter to access early-intervention services. This research sought to describe speech-language pathologists' perspectives regarding collaboration with interpreters in this space.

Method: Twenty-seven speech-language pathologists working in Australia completed a cross-sectional mixed-method online survey.

Food Is Medicine: Diet Assessment Tools in Adult Inflammatory Bowel Disease Research.

Background: Diet significantly impacts the onset and progression of inflammatory bowel disease (IBD), and diet offers unique opportunities for treatment and preventative purposes. However, despite growing interest, no diet has been conclusively associated with improved long-term clinical and endoscopic outcomes in IBD, and evidence-based dietary guidelines for IBD remain scarce. This narrative review critically examines dietary assessment methods tailored to the unique needs of IBD, highlighting opportunities for precision and inclusivity.

Interdisciplinary Oral Nutrition Support and Supplementation After Hip Fracture Surgery in Older Adult Inpatients: A Global Cross-Sectional Survey (ONS-STUDY).

Background: Malnutrition predicts poor outcomes following hip fracture, affecting patient recovery, healthcare performance, and costs. Evidence-based guidelines recommend multicomponent, interdisciplinary nutrition care to improve intake, reduce complications, and enhance outcomes. This study examines global variation in oral nutrition support for older (65+ years) hip fracture inpatients.

Optimization and Validation of an Ultra-Performance Liquid Chromatography with Quadrupole Detector Mass Spectrometry Quantification Method for the Simultaneous Detection of Tazarotene and Tazarotenic Acid in Porcine Skin: An In Vitro Study.

Exploring tazarotene, a third-generation retinoid for potential hand osteoarthritis treatment, this study presents the development and validation of an ultra-performance liquid chromatography with quadrupole detector mass spectrometry (UPLC-QDa) method for the simultaneous quantification of tazarotene and tazarotenic acid, its active metabolite, in porcine skin. Method development involved a design-of-experiments approach for chromatographic optimization of gradient steepness, organic solvent volume, column temperature, capillary voltage, flow rate, and cone voltage. Central composite orthogonal design was used to optimize peak area, peak width, retention time, and resolution.

Duration of Time Intervals for Risk Minimization Measure Effectiveness Studies.

Insights into the time needed for evaluation of risk minimization measures' (RMMs) effectiveness might identify areas for improvement. We assessed the duration of time intervals between regulatory milestones for RMM effectiveness studies assessed by the Pharmacovigilance Risk Assessment Committee (PRAC) of the European Medicines Agency (EMA). We included completed RMM effectiveness post-authorization safety studies (PASSs) assessed by PRAC between 2016 and 2022.

Presence and potential impact of anthropogenic nesting materials on a colonial breeding waterbird.

Despite the vital importance of wetlands globally, these habitats have increasingly received anthropogenic materials, such as plastics, which can impact the wildlife these habitats support. Despite commonly found in the nests of Eurasian spoonbill (Platalea leucorodia), the presence of such materials has never been quantified. Here, we monitored the occurrence of anthropogenic nesting materials (ANM) in spoonbill nests in the Camargue wetland in Southern France during two breeding seasons (2021-2022).

Associations between injury occurrence and environmental temperatures in the Australian and German professional football leagues.

A cross-sectional analysis was performed to investigate associations between environmental temperatures and injury occurrence in two professional male football (soccer) leagues. Data from seven seasons of the German Bundesliga (2142 matches) and four seasons of the Australian A-League (470 matches) were included. Injuries were collated via media reports for the Bundesliga and via team staff reports in the A-League and comprised injury incidence, mechanisms (contact, noncontact), locations (e.

Income and education affect prognosis and treatment in symptomatic myeloma : A population-based study on 8672 multiple myeloma patients diagnosed 2008-2021 from the Swedish myeloma registry.

Despite advancements in multiple myeloma treatment, prognostic variability persists. We investigated the impact of income and education on treatment and survival in a country with publicly funded healthcare. We analysed data from the Swedish Myeloma Registry (2008-2021) linked to national registers.

sp. nov., a bacterium isolated from the air of the Icelandic volcanic island Surtsey.

A novel bacterium, designated 19SA41, was isolated from the air of the Icelandic volcanic island Surtsey. Cells of strain 19SA41 are Gram-stain-negative, strictly aerobic, non-motile rods and form pale yellow-pigmented colonies. The strain grows at 4-30 °C (optimum, 22 °C), at pH 6-10 (optimum, pH 7.

Icelandic translation, adaptation and validation of the Parental Burnout Assessment (PBA-IS).

Background: As parental burnout is increasingly recognised for its severe impact on parents and children, identifying factors that exacerbate or alleviate this condition is crucial. Reliable assessment tools in clinical settings are essential to detect those at risk of or experiencing burnout, enabling timely intervention.

Aims/objectives: This study aims to adapt the Parental Burnout Assessment for use in Iceland and evaluate its psychometric properties while exploring how personal and socio-demographic factors influence parental burnout.

Avian influenza annual report 2023.

All European Union (EU) Member States (MSs), along with Iceland, Norway, Switzerland and the United Kingdom (Northern Ireland), conduct surveillance for avian influenza (AI) in poultry and wild birds. EFSA, upon mandate of the European Commission, compiles and analyses this data in an annual report. This summary highlights findings from the 2023 surveillance activities.

Experiences with low-intervention clinical trials-the new category under the European Union Clinical Trials Regulation.

Background/aims: Low-intervention clinical trials have been established under the European Union Clinical Trials Regulation (EU 536/2014) which aims to simplify the conduct of clinical trials with authorized medicinal products. There is limited experience with conducting low-intervention trials. Therefore, this study aims to report on experiences and perceived (dis)advantages of low-intervention trials.

Dynamically induced spatial segregation in multispecies bacterial bioconvection.

Active matter, from motile bacteria to animals, can exhibit striking collective and coherent behavior. Despite significant advances in understanding the behavior of homogeneous systems, little is known about the self-organization and dynamics of heterogeneous active matter, such as complex and diverse bacterial communities. Under oxygen gradients, many bacterial species swim towards air-liquid interfaces in auto-organized, directional bioconvective flows, whose spatial scales exceed the cell size by orders of magnitude.