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.

Significance of adding chemotherapy to radiotherapy in the treatment of T2N0 glottic cancer.

The prognosis for T2N0 glottic squamous cell carcinoma (SCC) is generally favorable, with a 5-year overall survival rate of 79%-96% achieved with radiotherapy (RT), the standard nonsurgical treatment for this condition. However, the local control rate for T2N0 glottic SCC treated with RT remains suboptimal, with a 5-year local control rate of only 65%-80%. Local residual disease or recurrence following RT for T2N0 glottic SCC often leads to difficulties in laryngeal preservation.

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.

From intuition to innovation: Empirical illustrations of multimodal measurement in psychotherapy research.

Background: This special section underscores the potential of multimodal measurement approaches to transform psychotherapy research. A multimodal approach provides a more comprehensive understanding than any single modality (type of collected information) can provide on its own.

Methods: Traditionally, clinicians and researchers have relied on their intuition, experience, and training to integrate different types of information in a psychotherapy session/treatment.

Changes in cerebrovascular reactivity as a marker of cognitive impairment risk: a transcranial Doppler study.

Introduction: Post-stroke cognitive impairment (PSCI) and dementia affect short- and long-term outcome after stroke and can persist even after recover from a physical handicap. The process underlying PSCI is not yet fully understood. Transcranial Doppler ultrasound (TCD) is a feasible method to investigate cerebrovascular aging or dementia, through the pulsatility index (PI), the cerebrovascular reactivity (e.

Should adrenal incidentaloma patients be evaluated for muscle mass, function, and quality? A cross-sectional study.

Purpose: Our study evaluated skeletal muscle mass, function and quality among mild autonomous cortisol secretion (MACS) patients and non-functioning adrenal incidentaloma (NFAI) patients in comparison with the control group without adrenal mass.

Methods: 63 NFAI (49 female, 14 male) and 31 MACS (24 female, 7 male) patients were included in the study. As the control group, 44 patients (31 women, 13 men) who were known to have no radiological adrenal pathology on computed tomography or magnetic resonance imaging performed for other reasons were selected.

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).

Cardiotoxicity Associated With a Low Doses of 5-FU Promotes Morphoquantitative Changes in the Intrinsic Cardiac Nervous System.

5-Fluorouracil (5-FU) is a chemotherapeutic that is used to treat solid tumors. However, 5-FU is associated with several side effects, including cardiotoxicity. Considering the importance of the intrinsic cardiac nervous system (ICNS) for the heart and that little is known about effects of 5-FU on this nervous system plexus, the purpose of the present study was to evaluate effects 5-FU at a low dose on the ICNS and oxidative and inflammatory effects in the heart in Wistar rats.

ETV5-Mediated Transcriptional Repression of DDIT4 Blocks Macrophage Pro-Inflammatory Activation in Diabetic Atherosclerosis.

Atherosclerosis risk is elevated in diabetic patients, but the underlying mechanism such as the involvement of macrophages remains unclear. Here, we investigated the underlying mechanism related to the pro-inflammatory activation of macrophages in the development of diabetic atherosclerosis. Bioinformatics tools were used to analyze the macrophage-related transcriptome differences in patients with atherosclerosis and diabetic mice.

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.

Conceptualizing a load and volume autoregulation integrated velocity model to minimize neuromuscular fatigue and maximize neuromuscular adaptations in resistance training.

Resistance training (RT) load and volume are considered crucial variables to appropriately prescribe and manage for eliciting the targeted acute responses (i.e., minimizing neuromuscular fatigue) and chronic adaptations (i.

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.

The efficacy analysis of robotic versus laparoscopic ipsilateral uretero-ureterostomy for upper urinary tract duplications in pediatric population.

Objective: To review and compare robot-assisted ipsilateral ureteroureterostomy (RALUU) and laparoscopic ipsilateral uretero-ureterostomy (LUU) in terms of efficacy and outcomes.

Methods: Clinical data of 65 children with complete renal ureteral duplication deformity admitted to the First Affiliated Hospital of Zhengzhou University from January 2015 to December 2022 were collected. Among these, 42 patients underwent laparoscopic ureteroureterostomy (LUU), designated as the LUU group, while 23 patients received robot-assisted laparoscopic ureteroureterostomy (RALUU), designated as the RALUU group.

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.

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.

How low should we go? Outcomes of ECMO in neonates with low gestational age or birth weight.

Purpose: Initial recommendations for ECMO had relative contraindications for low birth weight (BW) or low gestational age (GA) babies. However, more recent literature has demonstrated improved and acceptable outcomes of ECMO in smaller neonates. The purpose of this study was to understand both utilization and survival in patients with lower GA and BW.

The causal association between cardiovascular proteins and diabetic nephropathy: a Mendelian randomization study.

Purpose: To clarify the causal association between cardiovascular proteins and diabetic nephropathy (DN) in Europeans.

Methods: The large genome-wide association study data of cardiovascular proteins and DN were used for this two-sample Mendelian randomization (MR) analysis. We took the Inverse variance weighted (IVW) as the primary method.

Comparing the Effects of Square, 4-7-8, and 6 Breaths-per-Minute Breathing Conditions on Heart Rate Variability, CO Levels, and Mood.

Square and 4-7-8 breathing are popularly promoted by psychotherapists but have little empirical support. We hypothesized that breathing at 6 breaths per minute (bpm) would improve HRV, reduce blood pressure, and improve mood more than either square or 4-7-8 breathing. We also hypothesized square and 4-7-8 breathing would increase end-tidal CO (PETCO).

Count-rate management in I SPECT/CT calibration.

Background: System calibration is essential for accurate SPECT/CT dosimetry. However, count losses due to dead time and pulse pileup may cause calibration errors, in particular for I, where high count rates may be encountered. Calibration at low count rates should also be avoided to minimise detrimental effects from e.

A panel of cancer testis antigens in squamous cell carcinoma of the lung, head and neck, and esophagus: implication for biomarkers and therapeutic targets.

This study aims to investigate the expression of seven cancer testis antigens (MAGE-A1, MAGE-A4, MAGE-A10, MAGE-A11, PRAME, NY-ESO-1 and KK-LC-1) in pan squamous cell carcinoma and their prognostic value, thus assessing the potential of these CTAs as immunotherapeutic targets. The protein expression of these CTAs was evaluated by immunohistochemistry in 60 lung squamous cell carcinoma (LUSC), 62 esophageal squamous cell carcinoma (ESCA) and 62 head and neck squamous cell carcinoma (HNSC). The relationship between CTAs expression and progression-free survival (PFS) was assessed.