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.

Pros and cons of surgical versus conservative management for head and neck paraganglioma: a real-world data analysis.

Purpose: To compare functional deficits associated to surgery with those caused by the growth of the head and neck paragangliomas (HNPGLs).

Methods: 72 patients with HNPGLs were included. Patients were divided in group A (49 patients undergoing surgery) and group B (23 patients following a wait and see approach).

Comparing answers of ChatGPT and Google Gemini to common questions on benign anal conditions.

Introduction: Chatbots have been increasingly used as a source of patient education. This study aimed to compare the answers of ChatGPT-4 and Google Gemini to common questions on benign anal conditions in terms of appropriateness, comprehensiveness, and language level.

Methods: Each chatbot was asked a set of 30 questions on hemorrhoidal disease, anal fissures, and anal fistulas.

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.

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.

Revolutionizing acute myeloid leukemia treatment: a systematic review of immune-based therapies.

The established protocol for the management of acute myeloid leukemia (AML) has traditionally involved the administration of induction chemotherapy, followed by consolidation chemotherapy, and subsequent allogeneic stem cell transplantation for eligible patients. However, the prognosis for individuals with relapsed and refractory AML remains unfavorable. In response to the necessity for more efficacious therapeutic modalities, targeted immunotherapy has emerged as a promising advancement in AML treatment.

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.

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.

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.

Ethanol and the Limitations of the Osmol Gap.

Study Objective: The osmol gap can help detect and manage those with toxic alcohol exposure, and it is altered by all alcohols including ethanol. The optimal correction for ethanol that would allow accurate detection of an alternative alcohol is unclear.

Methods: We conducted a prospective cohort study to assess baseline variations in osmol gap, and then to assess the validity of 2 commonly used coefficients (correction factors) for ethanol.

Unstable Housing Among Lesbian, Gay, Bisexual, Questioning, and Other-Identifying (LGBQ+) Youth - National Youth Risk Behavior Survey, 2021.

Purpose: To examine differences in unstable housing and health-risk behaviors and experiences by sexual identity among U.S. high school students.

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.

Sigma1 inhibitor suppression of adaptive immune resistance mechanisms mediated by cancer cell derived extracellular vesicles.

Adaptive immune resistance in cancer describes the various mechanisms by which tumors adapt to evade anti-tumor immune responses. IFN-γ induction of programmed death-ligand 1 (PD-L1) was the first defined and validated adaptive immune resistance mechanism. The endoplasmic reticulum (ER) is central to adaptive immune resistance as immune modulatory secreted and integral membrane proteins are dependent on ER.

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.

The patient's mental health from the perspective of consultation-liaison psychiatry at the stage of qualification for mechanical circulatory support implantation.

During qualification for mechanical circulatory support, the comprehensive assessment of a patient's mental state is an integral element of the overall medical evaluation. It encompasses a range of psychosocial issues, and as such provides information helpful in the selection of a suitable candidate for the required treatment, and sometimes identifies contraindications to it. It allows ensuring that the patient meets expectations regarding both mental health stability and adherence to medical recommendations.

Radiographic Diagnosis of Anomalous Root Canal Morphology in Patients with Pulpal Diseases at a Tertiary Hospital in Nigeria: A Case Series.

Negotiation of the intricate pulp canal space may pose a challenge in endodontic treatment. Consequently, appropriate diagnosis and thorough knowledge of the pattern and distribution of root canal systems are imperative for a more predictable outcome in the treatment of pulp diseases. Accordingly, cone beam computed tomography (CBCT) is deemed appropriate as an adjunctive diagnostic tool in endodontics.