ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.

Ankyrin Repeat Domain-containing Protein 11 () is a causative gene for KBG syndrome, a significant risk factor for Cornelia de Lange syndrome (CdLS), and a highly confident autism spectrum disorder gene. Mutations of lead to developmental abnormalities in multiple organs/tissues including the brain, craniofacial and skeletal bones, and tooth structures with unknown mechanism(s). Here, we find that ANKRD11, via a short peptide fragment in its N-terminal region, binds to the cohesin complex with a high affinity, implicating why mutation can cause CdLS.

High-Throughput Chemotherapeutic Drug Screening System for Gastric Cancer (Cure-GA).

Background: Three dimensional (3D) cell cultures can be effectively used for drug discovery and development but there are still challenges in their general application to high-throughput screening. In this study, we developed a novel high-throughput chemotherapeutic 3D drug screening system for gastric cancer, named 'Cure-GA', to discover clinically applicable anticancer drugs and predict therapeutic responses.

Methods: Primary cancer cells were isolated from 143 fresh surgical specimens by enzymatic treatment.

Semaglutide 2.4 mg versus Liraglutide 3 mg for the Treatment of Obesity in Greece: A Short-Term Cost-Effectiveness Analysis.

Background: Obesity is a global health issue with significant economic implications for health systems. Pharmacotherapy, including semaglutide 2.4 mg and liraglutide 3 mg, offers a treatment option for weight management; however, its cost-effectiveness requires evaluation.

Fasting plasma methylglyoxal concentrations are associated with higher numbers of circulating intermediate and non-classical monocytes but with lower activation of intermediate monocytes: the Maastricht Study.

Purpose: Elevated methylglyoxal (MGO) levels and altered immune cell responses are observed in diabetes. MGO is thought to modulate immune cell activation. The current study investigated whether fasting or post-glucose-load plasma MGO concentrations are associated with circulating immune cell counts and activation in a large cohort study.

Folate and Vitamin B12 Status among Non-Pregnant, Non-Lactating Women of Reproductive Age and Predicted Risk for Neural Tube Defects, Morogoro Region, Tanzania.

Introduction: Population risk for neural tube defects (NTDs) can be determined using red blood cell (RBC) folate. However, a paucity of biomarker and surveillance data among non-lactating, non-pregnant women of reproductive age (NPWRA) from Africa limits accurate assessment. Our study assessed folate and vitamin B12 status among non-lactating NPWRA and predicted population risk of NTDs in Tanzania.

Antibiotics for Paediatric Community-Acquired Pneumonia: What is the Optimal Course Duration?

Despite significant global reductions in cases of pneumonia during the last 3 decades, pneumonia remains the leading cause of post-neonatal mortality in children aged <5 years. Beyond the immediate disease burden it imposes, pneumonia contributes to long-term morbidity, including lung function deficits and bronchiectasis. Viruses are the most common cause of childhood pneumonia, but bacteria also play a crucial role.

Genomic selection shows improved expected genetic gain over phenotypic selection of agronomic traits in allotetraploid white clover.

Genomic selection using white clover multi-year-multi-site data showed predicted genetic gains through integrating among-half-sibling-family phenotypic selection and within-family genomic selection were up to 89% greater than half-sibling-family phenotypic selection alone. Genomic selection, an effective breeding tool used widely in plants and animals for improving low-heritability traits, has only recently been applied to forages. We explored the feasibility of implementing genomic selection in white clover (Trifolium repens L.

Non-parametric Bayesian deep learning approach for whole-body low-dose PET reconstruction and uncertainty assessment.

Positron emission tomography (PET) imaging plays a pivotal role in oncology for the early detection of metastatic tumors and response to therapy assessment due to its high sensitivity compared to anatomical imaging modalities. The balance between image quality and radiation exposure is critical, as reducing the administered dose results in a lower signal-to-noise ratio (SNR) and information loss, which may significantly affect clinical diagnosis. Deep learning (DL) algorithms have recently made significant progress in low-dose (LD) PET reconstruction.

Outliving oneself through the next generations: (grand)parenthood and values in later life.

The article explores personal values among older adults in relation to their "offspring status." Erikson's theory of psychosocial development and Schwartz's theory of human values suggest a positive relationship between having offspring and prosocial values. We tested this hypothesis by comparing older adults who have none, one, or two generations of descendants: childless (with no descendants), grandchildless (with adult children and no grandchildren), and grandparents.

Associations of Short-Term Ozone Exposure With Hypoxia and Arterial Stiffness.

Background: Epidemiological studies reported associations between ozone (O) exposure and cardiovascular diseases, yet the biological mechanisms remain underexplored. Hypoxia is a shared pathogenesis of O-associated diseases; therefore, we hypothesized that O exposure may induce changes in hypoxia-related markers, leading to adverse cardiovascular effects.

Objectives: This study aimed to investigate associations of short-term O exposure with hypoxic biomarkers and arterial stiffness.

Dissociative and Deep Sedations Administered by Trained Unsupervised Pediatric Residents in Israeli Emergency Departments.

Study Objective: To cover pediatric emergency physicians' off-hours, third-year pediatric residents in Israel are trained for unsupervised administration of emergency department (ED) dissociative and deep sedation. We assessed the frequency of critical sedation events associated with resident-performed sedations.

Methods: We conducted a retrospective chart review on all patients receiving intravenous sedation across 10 pediatric EDs between January 2018 and September 2022.

Synthetic Bilirubin-Based Nanomedicine Protects Against Renal Ischemia/Reperfusion Injury Through Antioxidant and Immune-Modulating Activity.

Renal ischemia/reperfusion injury (IRI) is a common form of acute kidney injury. The basic mechanism underlying renal IRI is acute inflammation, where oxidative stress plays an important role. Although bilirubin exhibits potent reactive oxygen species (ROS)-scavenging properties, its clinical application is hindered by problems associated with solubility, stability, and toxicity.

Conductive Textile Embedded with Bioinspired Wettability for Prolonged and Energy Efficient Thermal Management.

The design of electrically conductive textiles appears to be a promising approach to combat the existing challenge of deaths caused by severe cold climates around the globe. However, reports on the scalable fabrication of tolerant conductive textiles maintaining a low electrical resistance with an ability for unperturbed and prolonged performance are scarce. Here, a breathable and wrappable water-repellent conductive textile (water-repellent CT) with electrothermal and photothermal conversion abilities at low external voltage and in weak solar light is introduced, respectively.

Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).

Sperm-associated antigen 9 (SPAG9) is a member of cancer-testis antigen, having characteristics of a scaffold protein, which is involved in the c-Jun N-terminal kinase JNK signaling pathway, suggesting its key involvement in different physiological processes, such as survival, apoptosis, tumorigenesis, and cell proliferation. We identified two families (A and B) having multisystem features like coarse facial features, albinism, cataracts, skeletal abnormalities, and developmental delay. Whole genome sequencing (WGS) in families A and B revealed a homozygous frameshift variant (c.

Variation and assembly mechanisms of skin and cave environmental fungal communities during hibernation periods.

Animal skin acts as the barrier against invasion by pathogens and microbial colonizers. Environmental microbiota plays a significant role in shaping these microbial communities, which, in turn, have profound implications for host health. Previous research has focused on characterizing microorganisms on bats' skin and in their roosting environments, particularly bacterial communities.

Valence State Hydrogen Channel Enhances Sustained and Controllable Electrocatalytic Hydrogen Evolution in Diabetic Skin Wound Healing.

Diabetes significantly increases the risk of serious health issues, including prolonged skin inflammation and delayed wound healing, owing to inferior glucose control and suppression of the immune system. Although traditional hydrogen (H2) therapy is slightly effective, its ability to tailor the release of H2 on the skin is limited. Accordingly, this study proposed a novel strategy for electrocatalytic H2 release under neutral conditions to promote wound healing in diabetic mice and rabbit.

Physico-chemical properties and substrate specificity of α-(1→3)-d-glucan degrading recombinant mutanase from expressed in .

Unlabelled: The gene encoding fungus mutanase (MutA, GH71 family, α-1,3-glucanase, EC 3.2.1.

Circulating microRNAs as Biomarkers of Various Forms of Epilepsy.

: Epilepsy is a group of disorders characterized by a cluster of clinical and EEG signs leading to the formation of abnormal synchronous excitation of neurons in the brain. It is one of the most common neurological disorders worldwide; and is characterized by aberrant expression patterns; both at the level of matrix transcripts and at the level of regulatory RNA sequences. Aberrant expression of a number of microRNAs can mark a particular epileptic syndrome; which will improve the quality of differential diagnosis.

Optimizing Recovery Strategies in Elite Speedskating: A Comparative Analysis of Different Modalities.

As short-track speed skaters have to race multiple races to achieve success during competition, optimizing the recovery between efforts is a noteworthy performance determinant. Therefore, we compared three different recovery modalities (active cycling recovery, pneumatic compression boots, and isocapnic breathing protocol) in the context of perceived subjective pain and recovery variables, multiple biochemical and biomechanical indices, CMJ height and power, as well as repeated efforts on the ice track. Fifteen elite short-track speed skaters (eight males and seven females; age 18.

Exploring the Interplay of Handgrip Neuromuscular, Morphological, and Psychological Characteristics in Tactical Athletes and General Population: Gender- and Occupation-Based Specific Patterns.

Background/objectives: The correlation of handgrip strength (HGS) and morphological characteristics with Big Five personality traits is well documented. However, it is unclear whether these relationships also exist in highly trained and specialized populations, such as tactical athletes, and whether there are specific differences compared to the general population. This study aimed to explore the interplay of handgrip neuromuscular, morphological, and psychological characteristics in tactical athletes and the general population of both genders.

Consolidated Newborn Bloodspot Screening Efforts in Developing Countries in the Asia Pacific-2024.

Approximately half of all births globally occur in the Asia Pacific Region. Concerted efforts to support local activities aimed at developing national newborn screening (NBS) have been ongoing for almost 30 years, first by the International Atomic Energy Agency (IAEA) and then through volunteer efforts. Sustainable newborn bloodspot screening (NBS) continues to be initiated and develop in many of the countries with developing economies in the region.

Genetic Predisposition to Hippocampal Atrophy and Risk of Amnestic Mild Cognitive Impairment and Alzheimer's Dementia.

Background: There is a paucity of evidence on the association between genetic propensity for hippocampal atrophy with cognitive outcomes. Therefore, we examined the relationship of the polygenic risk score for hippocampal atrophy (PRShp) with the incidence of amnestic mild cognitive impairment (aMCI) and Alzheimer's disease (AD) as well as the rates of cognitive decline.

Methods: Participants were drawn from the population-based HELIAD cohort.

Polymorphism Is Associated with Higher Carbamazepine Clearance in Children.

The aim of our study was to investigate the role of polymorphism in the pharmacokinetics of carbamazepine (CBZ) in children. The study enrolled 47 Serbian pediatric epileptic patients on CBZ treatment. Genotyping for 1236C View Article and Find Full Text PDF

Nurses' Sleep Quality and Its Influencing Factors During the First Explosive COVID-19 Outbreak in Zhejiang, China, After the Relaxation of Epidemic Prevention and Control Measures: A Multicentre Cross-Sectional Study.

Aim: To investigate the sleep quality and its influencing factors among nurses in hospitals in Zhejiang, China, during the first explosive COVID-19 outbreak following the relaxation of prevention and control measures.

Design: A multicentre cross-sectional study.

Methods: Between 10 January and 20 January 2023-approximately 1 month after the policy was loosened-a total of 573 nurses from tertiary and community hospitals in Zhejiang participated in an online, self-administered survey.