The nature and pathological impact of the c.1748A > G variant of the neurofibromin 1 gene.

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, and mutations in the NF1 gene lead to RAS overactivation, which stimulates abnormal cell proliferation and can cause various tumors. The c.1748A > G mutation in the NF1 gene was initially classified as a missense mutation, but has also been suggested to be a splice mutation.

Effects of printing layer thickness and build orientation on the mechanical properties and color stability of 3D-printed clear aligners.

Objectives: To determine effects of printing layer thickness and build orientation on mechanical properties and color stability of direct 3D-printed clear aligner resin.

Materials And Methods: Specimens were printed using 3D printed clear aligner resin with two printing layer thicknesses (50 µm, 100 µm) and three build orientations (90°, 60°, and 45°). Mechanical properties (tensile stress, tensile strain, and elastic modulus), color stability in coffee and artificial saliva, and roughness were then evaluated.

Strategies for mitigating data heterogeneities in AI-based neuro-disease detection.

In this NeuroView, we discuss challenges and best practices when dealing with disease-detection AI models that are trained on heterogeneous clinical data, focusing on the interrelated problems of model bias, causality, and rare diseases.

A designed synthetic microbiota provides insight to community function in Clostridioides difficile resistance.

Clostridioides difficile, a major cause of antibiotic-associated diarrhea, is suppressed by the gut microbiome, but the precise mechanisms are not fully described. Through a meta-analysis of 12 human studies, we designed a synthetic fecal microbiota transplant (sFMT1) by reconstructing microbial networks negatively associated with C. difficile colonization.

Factors influencing infectious bovine rhinotracheitis reactivity levels through passive immunization in Jersey calves.

Infectious bovine rhinotracheitis (IBR), caused by bovine alphaherpesvirus 1 (BoAHV1), is a major viral disease affecting cattle worldwide. Passive immunity from colostrum is crucial for protecting neonatal calves; however, maternally derived antibodies can interfere with vaccine efficacy, making it vital to understand their dynamics to optimize vaccination timing. This study examined the persistence of IBR-specific antibodies in 55 Jersey calves from birth to 12 weeks of age (pre-vaccination stage) and analyzed factors influencing antibody levels.

Leveraging artificial intelligence-mediated communication for cancer prevention and control and drug addiction: A systematic review.

Objective: To conduct a systematic review on Artificial Intelligence-Mediated Communication (AIMC) behavioral interventions in cancer prevention/control and substance use.

Methods: Eight databases were searched from 2017 to 2022 using the Population Intervention Control Outcome Study (PICOS) framework. We synthesized findings of AIMC-based interventions for adult populations in cancer prevention/control or substance use, applying SIGN Methodology Checklist 2 for quality assessments and reviewing retention and engagement.

The PCOS Phenotype in Unselected Populations study: ethnic variation in population-based normative cut-offs for defining hirsutism.

Objective: Hirsutism, a diagnostic feature of polycystic ovary syndrome (PCOS), is often defined using arbitrary percentile cutoffs, rather than normative cutoffs from population-based data. We aimed to define normative cutoffs for hirsutism in diverse populations.

Design: Unselected population-based cluster analysis of individual participant data (IPD).

Preoperative tumor embolization via pedicle artery sacrifice for symptomatic spinal aneurysmal bone cysts: illustrative cases.

Background: Spinal aneurysmal bone cysts (ABCs) are challenging to manage due to high vascularity and proximity to critical structures. Two patients with large, symptomatic thoracic ABCs are presented.

Observations: Preoperative tumor embolization via pedicle artery sacrifice was performed prior to planned resection to reduce intraoperative blood loss and the risk of postoperative neurological deficits.

A family of α/β hydrolases removes phytol from chlorophyll metabolites for tocopherol biosynthesis in Arabidopsis.

Tocopherol synthesis requires phytyl diphosphate derived from phytol esterified to chlorophyll metabolites. The >600-member Arabidopsis thaliana α/β hydrolase (ABH) gene family contains 4 members that can release phytol from chlorophyll metabolites in vitro; however, only pheophytinase (PPH) affects tocopherol synthesis when mutated, reducing seed tocopherols by 5%. We report the biochemical analysis of 2 previously uncharacterized ABHs, chlorophyll dephytylase 2 (CLD2) and CLD3, and their respective mutants singly and in combinations with pph and cld1 alleles.

Developing Brain-Based Bare-Handed Human-Machine Interaction via On-Skin Input.

Developing natural, intuitive, and human-centric input systems for mobile human-machine interaction (HMI) poses significant challenges. Existing gaze or gesture-based interaction systems are often constrained by their dependence on continuous visual engagement, limited interaction surfaces, or cumbersome hardware. To address these challenges, we propose MetaSkin, a novel neurohaptic interface that uniquely integrates neural signals with on-skin interaction for bare-handed, eyes-free interaction by exploiting human's natural proprioceptive capabilities.

Body composition and cardiometabolic risks of patients with adrenal tumours in relation to hormonal activity: a large cross-sectional single-centre study.

Objective: We aimed to examine how different types of adrenal hormone excess influence body composition.

Design: A retrospective, cross-sectional, single-centre study.

Methods: We retrospectively enrolled 2971 consecutive adults with adrenal tumours and age-, sex-, and body mass index-matched controls at a 1:3 ratio.

The acetyltransferase GCN5 contributes to neuroinflammation in mice by acetylating and activating the NF-κB subunit p65 in microglia.

Neuroinflammation promotes the progression of various neurological and neurodegenerative diseases. Disrupted homeostasis of protein acetylation is implicated in neurodegeneration, and the lysine acetyltransferase GCN5 (also known as KAT2A) is implicated in peripheral inflammation. Here, we investigated whether GCN5 plays a role in neuroinflammation in the brain.

Non-Immediacy for Non-Destructive Equilibrium: Surgical, Osteogenic, and Prosthetic Innovations in Full-Arch Implant Rehabilitation with Terminal Dentitions - A Three-Year Case Report.

Full-arch implant rehabilitation - necessitating a holistic, transdisciplinary approach - has been one of the most rapidly advancing disciplines in implant dentistry, driven by rising standards and modern technological advancements. Despite indicated cases and genuine efforts to improve efficiency, the current trend of immediacy or 'teeth-in-a-day' protocol may have unintentionally veiled a more conservative, predictable, and practical potential in wound healing process, esthetics, and occlusion. Through a more phased approach utilizing terminal dentitions as strategic abutments, this case report of three years follow-up emphasizes the leverage of natural biological phenomena in tissue maturation, remodeling, and condensation, along with prosthetic sophistications focusing on its meticulousness in execution and long-range trajectory success.

Ibuprofen is Not Associated With an Elevated Bleeding Risk or Transfusion Requirement in Skin Grafting for Patients with Burn Injuries.

Ibuprofen, a non-steroidal anti-inflammatory drug (NSAID), can increase the risk of bleeding, a significant concern in burn surgery, which often involves substantial blood loss. This study aims to evaluate the safety of ibuprofen use in burn patients undergoing skin grafting. A retrospective case-control chart review was conducted for patients admitted with acute burn injury from 01/01/2024 to 07/31/2024 who underwent skin grafting.

Correction: Computational reassessment of RNA-seq data reveals key genes in active tuberculosis.

[This corrects the article DOI: 10.1371/journal.pone.

Nanotechnology-Based Wearable Electrochemical Biosensor for Disease Diagnosis.

Recently, flexible electronics have significantly transformed information and communications technology (ICT). In particular, wearable devices, via integration with attachable biosensors, have driven the development of new types of biosensors and diagnostic devices for point-of-care testing (POCT). Moreover, wearable electrochemical biosensors can be applied to diagnose diseases in real time based on the synergistic effect generated from the incorporation of the electrochemical technique.

Expanded Hemodialysis with Theranova Dialyzer and Residual Kidney Function in Incident Hemodialysis Patients.

Background: Expanded hemodialysis (HD) using a medium cut-off dialyzer improves the clearance of middle-molecular toxins compared to conventional HD. This study evaluated the effect of expanded HD on preserving residual kidney function in incident HD patients.

Methods: Patients who initiated HD were randomized to receive dialysis with either a Theranova 400 (Baxter) or a high-flux dialyzer with a similar surface area over 12 months.

Connecting the Dots: Sintering of Liquid Metal Particles for Soft and Stretchable Conductors.

This review focuses on the sintering of liquid metal particles (LMPs). Here, sintering means the partial merging or connecting of particles (or droplets) to form a network of percolated and, thus, conductive electrical pathways. LMPs are attractive materials because they can be suspended in a carrier fluid to create printable inks or distributed in an elastomer to create soft, stretchable composites.

Electronic Structures of Iron in Oxide Glasses via 1s3p Resonant Inelastic X-ray Scattering.

Electronic structures of iron in glasses are essential for unraveling the effect of transition metals on amorphous networks and controlling the electro-optical and transport properties of advanced glasses and amorphous energy-storing materials. The electronic configurations around iron in glasses, however, remain not well understood due to the structural disorders arising from multiple iron species with distinct valence, coordination, and spin states. Here, the first 1s3p resonant inelastic X-ray scattering (RIXS) for oxide glasses identifies hidden electronic configurations for Fe and Fe in amorphous networks.

Co-Occurrence of Stunting and Off-Track Early Child Development in Low- and Middle-Income Countries.

Importance: Although children across low- and middle-income countries (LMICs) are increasingly surviving, many are not fully thriving. Both stunting and off-track early child development (ECD) hinder children's potential to thrive.

Objectives: To estimate the global prevalence of the co-occurrence of stunting and off-track ECD and explore its association with nurturing care and sociodemographic factors.

Factors associated with locoregional recurrence after neoadjuvant chemotherapy for breast cancer in a safety-net medical center.

Background: The management of locally advanced breast cancer poses significant challenges, with contemporary strategies involving an approach that combines systemic and local treatment. The current study was performed to validate the clinical impression that locoregional recurrences have become increasingly uncommon after standardized multimodal treatment protocol.Please check and confirm that the authors and their respective affiliations have been correctly identified and amend if necessary.