A case of Li-Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel.

A Japanese woman with Li-Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.

How likely is it that a virus or bacteria is causing a patient's symptoms? A new approach to interpret the outcome from multi-pathogen PCR.

Background: Whether a detected virus or bacteria is a pathogen that may require treatment, or is merely a commensal 'passenger', remains confusing for many infections. This confusion is likely to increase with the wider use of multi-pathogen PCR.

Objectives: To propose a new statistical procedure to analyse and present data from case-control studies clarifying the probability of causality.

18F-Sodium Fluoride PET/CT as a Tool to Assess Enthesopathies in X-Linked Hypophosphatemia.

X-linked hypophosphatemia (XLH) is a rare metabolic disorder characterized by elevated FGF23 and chronic hypophosphatemia, leading to impaired skeletal mineralization and enthesopathies that are associated with pain, stiffness, and diminished quality of life. The natural history of enthesopathies in XLH remains poorly defined, partly due to absence of a sensitive quantitative tool for assessment and monitoring. This study investigates the utility of 18F-NaF PET/CT scans in characterizing enthesopathies in XLH subjects.

Forest Fragmentation and Warmer Climate Increase Tick-Borne Disease Infection.

Anthropogenic disturbances degrade ecosystems, elevating the risk of emerging infectious diseases from wildlife. However, the key environmental factors for preventing tick-borne disease infection in relation to host species, landscape components, and climate conditions remain unknown. This study focuses on identifying crucial environmental factors contributing to the outbreak of severe fever with thrombocytopenia syndrome (SFTS), a tick-borne disease, in Miyazaki Prefecture, southern Japan.

Integrated metabolomic and transcriptomic strategies to reveal adaptive mechanisms in barley plant during germination stage under waterlogging stress.

Barley (Hordeum vulgare L.) is an important cereal crop used in animal feed, beer brewing, and food production. Waterlogging stress is one of the prominent abiotic stresses that has a significant impact on the yield and quality of barley.

Assessing water status in rice plants in water-deficient environments using thermal imaging.

Background: Rice is a staple food for the global population. However, extreme weather events threaten the stability of the water supply for agriculture, posing a critical challenge to the stability of the food supply. The use of technology to assess the water status of rice plants enables the precise management of agricultural water resources.

Effectiveness and cost-effectiveness of interventions to increase knowledge and awareness of attention deficit hyperactivity disorder: a systematic review.

Various interventions, including caregiver education, psychoeducation, teacher and clinician training and behavioral management embedded with education, are available to enhance awareness and knowledge among caregivers, teachers, and clinicians. This review synthesizes evidence on the effectiveness and cost-effectiveness of interventions to increase ADHD awareness and knowledge for caregivers, clinicians, and teachers. Peer-reviewed literature was identified through the systematic searches of six databases: MEDLINE Complete, APA PsycInfo, CINAHL Complete, ERIC, Global Health and EconLit.

Automated spinopelvic measurements on radiographs with artificial intelligence: a multi-reader study.

Purpose: To develop an artificial intelligence (AI) algorithm for automated measurements of spinopelvic parameters on lateral radiographs and compare its performance to multiple experienced radiologists and surgeons.

Methods: On lateral full-spine radiographs of 295 consecutive patients, a two-staged region-based convolutional neural network (R-CNN) was trained to detect anatomical landmarks and calculate thoracic kyphosis (TK), lumbar lordosis (LL), sacral slope (SS), and sagittal vertical axis (SVA). Performance was evaluated on 65 radiographs not used for training, which were measured independently by 6 readers (3 radiologists, 3 surgeons), and the median per measurement was set as the reference standard.

Exploring the dual roles of sec-dependent effectors from Candidatus Liberibacter asiaticus in immunity of citrus plants.

The three SDEs of CLas were expressed in citrus leaves by AuNPs-PEI mediated transient expression system, and promoted the proliferation of CLas and inhibited citrus immunity. Huanglongbing (HLB) is the most severe bacterial disease of citrus caused by Candidatus Liberibacter asiaticus (CLas). CLas suppress host immune responses and promote infection by sec-dependent effectors (SDEs), thus insight into HLB pathogenesis is urgently needed to develop effective management strategies.

Assessment of geochemistry and irrigation suitability of the River Ganga, Varanasi, India: PCA reduction for water quality index and health risk evaluation.

Surface water chemistry of the River Ganga at Varanasi was analyzed at 10 locations over 3 years (2019-2021) across pre-monsoon, monsoon, and post-monsoon seasons. The study aimed to assess water parameters using principal component analysis (PCA), calculate the water quality index (WQI), determine processes governing water chemistry, evaluate irrigation suitability, and estimate non-carcinogenic health risks. The physical parameters measured included pH (8.

An involvement of a new zinc finger protein PbrZFP719 into pear self-incompatibility reaction.

This study indicated that the CCHC-type zinc finger protein PbrZFP719 involves into self-incompatibility by affecting the levels of reactive oxygen species and cellulose content at the tips of pollen tubes. S-RNase-based self-incompatibility (SI) facilitates cross-pollination and prevents self-pollination, which in turn increases the costs associated with artificial pollination in fruit crops. Self S-RNase exerts its inhibitory effects on pollen tube growth by altering cell structures and components, including reactive oxygen species (ROS) level and cellulose content.

Chronic kidney disease-mineral and bone disorder: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

In 2017, Kidney Disease: Improving Global Outcomes (KDIGO) published a Clinical Practice Guideline Update for the Diagnosis, Evaluation, Prevention, and Treatment of Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD). Since then, new lines of evidence have been published related to evaluating disordered mineral metabolism and bone quality and turnover, identifying and inhibiting vascular calcification, targeting vitamin D levels, and regulating parathyroid hormone. For an in-depth consideration of the new insights, in October 2023, KDIGO held a Controversies Conference on CKD-MBD: Progress and Knowledge Gaps Toward Personalizing Care.

Robust differentiation and potent immunomodulation of human mesenchymal stromal cells cultured with a xeno-free GMP protein supplement.

Background/aims: Human mesenchymal stromal cells (hMSC) are multipotent adult cells commonly used in regenerative medicine as advanced therapy medicinal products. The expansion of these cells in xeno-free supplements is highly encouraged by regulatory agencies due to safety concerns. However, the number of supplements with robust performance and consistency for hMSC expansion are limited.

ISCT MSC committee statement on the US FDA approval of allogenic bone-marrow mesenchymal stromal cells.

The December 2024 US Food and Drug Administration (FDA) approval of Mesoblast's Ryoncil (remestemcel-L-rknd)-allogeneic bone marrow mesenchymal stromal cell (MSC(M)) therapy-in pediatric acute steroid-refractory graft-versus-host-disease finally ended a long-lasting drought on approved MSC clinical products in the United States. While other jurisdictions-including Europe, Japan, India, and South Korea-have marketed autologous or allogeneic MSC products, the United States has lagged in its approval. The sponsor's significant efforts and investments, working closely with the FDA addressing concerns regarding clinical efficacy and consistent MSC potency through an iterative process that spanned several years, was rewarded with this landmark approval.

Long-Term Outcomes of Radiation Monotherapy Versus Combined Radiation Monotherapy + Hormone Therapy in Low-Risk Early-Stage Breast Cancer Patients 70 Years or Older After Breast-Conserving Surgery.

Purpose: Standard therapy for breast cancer after breast-conserving surgery is radiation therapy (RT) plus hormone therapy (HT). For patients with a low-risk of recurrence, there is an interest in deescalating therapy.

Methods And Materials: A retrospective study was carried out for patients treated at the Swedish Cancer Institute from 2000 to 2015, aged 70 years or older, with pT1N0 or pT1NX estrogen receptor-positive and ERBB2-negative unifocal breast cancer without positive surgical margins, high nuclear grade, or lymphovascular invasion.

Comparing the Palmar Radiocarpal Artery Vascularized Bone Graft with Alternatives for Unstable Scaphoid Nonunions: A Retrospective Analysis.

Purpose: We compared the radiographic union and magnitude of humpback deformity correction when using different vascularized bone grafts (VBGs) and nonvascularized bone grafts (NVBGs) in the treatment of unstable scaphoid nonunions (USNUs).

Methods: This was a retrospective radiographic review of 93 patients with an USNU treated between 2013 and 2022 at a single center by a single surgeon. Inclusion criteria included skeletally mature patients with radiographic evidence of an USNU resulting from failure of either nonsurgical or operative treatment.

Factors Influencing Knowledge-Action Gap in Patients With Metabolic Dysfunction-Associated Fatty Liver Disease: A Qualitative Study.

Objective: To explore the knowledge-action gap regarding health behaviors and their influencing factors among patients with metabolic dysfunction-associated fatty liver disease (MAFLD), using the Health Belief Model as a theoretical framework.

Design: A qualitative approach was adopted, involving semistructured interviews with individuals with MAFLD.

Setting: Participants were recruited from a community hospital and a tertiary hospital in Nanjing, China, between July and October 2022.

Evaluating Clinician Experience in Health Care Transition: Results From Six Health Systems.

Purpose: There is a paucity of evidence examining clinician experiences with structured health-care transition (HCT) programs. Among HCT Learning Collaborative participants, this study describes clinician experiences with implementation of a structured HCT process: Got Transition's 6 Core Elements.

Methods: Representative members from 6 health systems designed a survey to collect clinician feedback regarding HCT and demographic and practice information.

Beyond hearing: the impact of Cochlear implantation on the quality of life of users and their communication partners after 1 year.

Objective: To assess the impact of cochlear implantation (CI) and speech perception outcomes on the quality of life (QoL) of adult CI users and their communication partners (CP) one-year post-implantation.

Design: This research is part of a prospective multicenter study in The Netherlands, called SMILE (Societal Merit of Intervention for hearing Loss Evaluation).

Study Sample: Eighty adult CI users completed speech perception testing and the Nijmegen Cochear Implant Questionnaire (NCIQ).

Development of PFAS-Free Locally Concentrated Ionic Liquid Electrolytes for High-Energy Lithium and Aluminum Metal Batteries.

ConspectusLithium-ion batteries (LIBs) based on graphite anodes are a widely used state-of-the-art battery technology, but their energy density is approaching theoretical limits, prompting interest in lithium-metal batteries (LMBs) that can achieve higher energy density. In addition, the limited availability of lithium reserves raises supply concerns; therefore, research on postlithium metal batteries is underway. A major issue with these metal anodes, including lithium, is dendritic formation and insufficient reversibility, which leads to safety risks due to short circuits and the use of flammable electrolytes.

Spin-Orbit Coupling and Admixture Coefficients in SA-CASSCF and MS-CASPT2, and Triplet Excitation Yield Simulated via Trajectory Surface Hopping and Calibrated SA-CASSCF in 1,2-Dioxetane Derivatives.

The energy gaps, spin-orbit coupling (SOC), and admixture coefficients over a series of the configurations are evaluated by the SA-CASSCF/6-31G, SA-CASSCF/6-31G*, SA-CASSCF/ANO-RCC-VDZP, and MS-CASPT2/ANO-RCC-VDZP to reveal the extent of the inaccuracy of the SA-CASSCF. By comparing the mean absolute errors for the energy gaps and the admixture coefficient magnitudes (ACMs) measured between the SA-CASSCF/6-31G, SA-CASSCF/6-31G*, or SA-CASSCF/ANO-RCC-VDZP and the MS-CASPT2/ANO-RCC-VDZP, the SA-CASSCF/6-31G is selected as the electronic structure method in the nonadiabatic molecular dynamics simulation. The major components of the ACMs of the SA-CASSCF/6-31G and MS-CASPT2/ANO-RCC-VDZP are identified and compared; we find that the ACMs are underestimated by the SA-CASSCF/6-31G, which is verified by the reasonable triplet quantum yield simulated by the trajectory surface hopping and the calibrated SA-CASSCF/6-31G.

Toward Product Safety and Circularity: Understanding the Information Structure of Global Databases on Chemicals in Products and Articles.

Access to information about chemicals in products and articles is critical for supporting enforcement of chemical regulations, assessing risks from chemicals, allowing informed consumer choices, and enabling product circularity. In this work, we identified and evaluated available databases (DBs) on chemicals in products and articles from the literature using a defined protocol and from European national market surveillance authorities, nongovernmental agencies, and industrial sector groups using questionnaires. This is the first comprehensive review of DBs that provide information about chemicals in products and articles.

Mini Atrial Septal Defect Closure In Dextrocardia With Situs Inversus By Left Anterolateral Thoracotomy(Lalt) Approach - A Surgical Challenge.

Background: ASD is a relatively rare subset among patients with situs inversus dextrocardia with concordant AV connection and a minimally invasive approach in dextrocardia has yet to be standardized. The present case describes a case surgical closure of ostium secundum ASD by left mini-thoracotomy approach in patient with dextrocardia and situs inversus.

Case Presentation: The present case describes a 44-year female patient of ostium secundum ASD in dextrocardia with situs inversus.

Immunonutrition to improve the quality of life of upper gastrointestinal cancer patients undergoing neoadjuvant treatment prior to surgery (NEOIMMUNE): double-blind randomized controlled multicenter clinical trial.

Background: Malnutrition is common with esophagogastric cancers and is associated with negative outcomes. We aimed to evaluate if immunonutrition during neoadjuvant treatment improves patient's health-related quality of life (HRQOL) and reduces postoperative morbidity and toxicities during neoadjuvant treatment.

Methods: A multicenter double-blind randomized controlled trial (RCT) was undertaken.