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.

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.

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.

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).

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.

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.

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.

Effects of Acupoint Application on Postoperative Sore Throat in Adults Following General Endotracheal Anesthesia: A Randomized Placebo-controlled Study.

Purpose: This study aims to evaluate the effect of acupoint application on the prevention of postoperative sore throat (POST), cough, expectoration, hoarseness, and patient satisfaction after general anesthesia.

Design: Randomized controlled trial.

Methods: A randomized double-blind clinical trial was designed.

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.

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.

Relationship Between Pre- and Post-Orchidectomy Serum Dihydrotestosterone and Prostate Cancer Severity in a Cohort of Nigerian Patients.

Introduction: Prostate cancer (PCa) is the commonest urologic cancer worldwide and the leading cause of male cancer deaths in Nigeria. In Nigeria, orchidectomy remains the primary androgen deprivation therapy. Dihydrotestosterone (DHT) is the active prostatic androgen, but its relationship with PCa severity has not been extensively studied in Africa.

Epidemiology and Management of Actinic Keratosis in France: A General Population Survey (REAKT).

The objective of this retrospective observational study was to estimate the prevalence of actinic keratosis (AK) in individuals aged ≥ 40 years in France, to describe the characteristics of affected patients, and to describe treatments. A representative panel of 20,000 households with ≥ 1 member aged ≥ 40 years were invited to participate. Participants who reported AK lesions diagnosed by a physician were eligible.

Scratch Scoring by a Sheet-shaped Body Vibrometer in Nocturnal Sleep: A Pilot Study Compared with Infrared Video Recording.

Itching tends to worsen at night in patients with itchy skin diseases, such as atopic dermatitis. Unconscious scratching during sleep can exacerbate symptoms, cause sleep disturbances, or reduce quality of life. Therefore, evaluating nocturnal scratching behaviour is important for better patient care.

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.

Epidemiologic threats and outcome of evolving COVID-19-associated mucormycosis from a referral hospital in Egypt.

Introduction: The present study aimed to explore the epidemiologic threats and factors associated with the coronavirus disease 2019 (COVID-19)-associated mucormycosis (CAM) epidemic that emerged in Egypt during the second COVID-19 wave. The study also aimed to explore the diagnostic features and the role of surgical interventions of CAM on the outcome of the disease in a central referral hospital.

Methodology: The study included 64 CAM patients from a referral hospital for CAM and a similar number of matched controls from COVID-19 patients who did not develop CAM.

Persistent COVID-19 symptoms and associated factors in a tertiary hospital in Thailand.

Introduction: Coronavirus disease 2019 (COVID-19) is associated with long-term symptoms, but the spectrum of these symptoms remains unclear. We aimed to identify the prevalence and factors associated with persistent symptoms in patients at the post-COVID-19 outpatient clinic.

Methodology: This cross-sectional, observational study included hospitalized severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infected patients followed-up at a post-COVID-19 clinic between September 2021 and January 2022.

Network analysis of socioeconomic disparities and public transport in COVID-19 spread: a case study in northeast Brazil.

Introduction: The coronavirus disease 2019 (COVID-19) pandemic has significantly impacted public transportation systems worldwide. In this study, we evaluated the rate of COVID-19 positivity and its associated factors among users of public transportation in socioeconomically disadvantaged regions of Brazil during the pre-vaccination phase of the pandemic.

Methodology: This ecological study, conducted in Aracaju city in Northeast Brazil, is a component of the TestAju Program.

Role of ivermectin and colchicine in the treatment of COVID-19: a randomized controlled clinical trial.

Introduction: The objective of this study was to assess the effectiveness of ivermectin and colchicine as treatment options for coronavirus disease 2019 (COVID-19).

Methodology: A three-arm randomized controlled clinical trial was conducted in the Triage Clinic of the family medicine department at Ain Shams University Hospitals on participants who had been diagnosed with moderate COVID-19. Patients aged < 18 years or > 65 years, with any co-morbidities, pregnant or lactating females, and those with mild or severe COVID-19 confirmed cases were excluded.

COVID-19 mortality among solid organ transplant recipients and candidates before specific vaccine availability in Colombia.

Introduction: Coronavirus disease 2019 (COVID-19) is a life-threatening disease that was declared a pandemic in March 2020. Organ transplant recipients are vulnerable to infection and complications from COVID-19. The objective of this study was to investigate the rates of infection, mortality, and case-fatality ratios (CFR) in solid organ transplant recipients and patients on the waiting list for organ allocation in the period prior to the availability of specific vaccines.

Effectiveness of levamisole in the treatment of patients with severe COVID-19: a randomized controlled clinical trial.

Introduction: Inflammation plays a role in coronavirus disease 2019 (COVID-19) pathophysiology and anti-inflammatory drugs may help reduce the disease severity. Levamisole is an anthelmintic drug with immunomodulatory and possible antiviral effects. This study aimed to evaluate the role of levamisole in the treatment of patients with COVID-19.

Evaluation of long-term pulmonary functions after COVID-19 infection in children: a longitudinal observational cohort study.

Introduction: We aimed to present the changes that may occur in pulmonary functions in children who experienced more severe coronavirus disease 2019 (COVID-19) during long-term follow-up.

Methodology: A prospective longitudinal observational cohort study was conducted with 34 pediatric patients (7-18 years) who were hospitalized with COVID-19 infection (moderate n = 25, severe n = 9), and followed up at our Pediatric Infection Outpatient Clinic for approximately two years. Pulmonary function tests (PFTs) were performed using spirometry.