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.

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.

Point-of-care ultrasound in the diagnosis of hepatic gas gangrene.

Hepatic gas gangrene (HGG) is a rare but life-threatening condition typically caused by anaerobic bacteria such as Clostridium perfringens, though Gram-negative bacteria like Escherichia coli and Klebsiella species have also been implicated. Traditionally diagnosed via computed tomography (CT), point-of-care ultrasound (POCUS) has emerged as a valuable tool in critical care settings for its non-invasive, bedside utility. We report the case of a 51-year-old female with choledochal syndrome secondary to cholangiocarcinoma who developed HGG following left extended hepatectomy and biliary reconstruction.

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.

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.

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.

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.

Perioperative management of postinfarction ventricular septal rupture: a comparison of Impella with intra-aortic balloon pump.

Postinfarction ventricular septal rupture (PIVSR) is a rare but serious complication of acute myocardial infarction. Determining how to conduct surgical repair safely is critical. We compared the outcomes of Impella and intra-aortic balloon pump (IABP) implantation during perioperative mechanical circulatory support management in patients with PIVSR (n = 22).

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.

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.

Association of dietary and plasma fatty acids with periodontitis: Results from the 2009-2014 National Health and Nutrition Examination Survey and Mendelian randomization study.

Background: The authors aimed to explore the association of fatty acids with periodontitis and its severity and to assess causality using Mendelian randomization (MR) analyses.

Methods: Data for participants with complete data were extracted from the 2009-2014 National Health and Nutrition Examination Survey. Weighted logistic regression was used to explore the relationship between dietary fatty acids and periodontitis and its severity.

The Difficulties Experienced by Children with Celiac Disease in the Kahramanmaras Centered Earthquake in Turkey: A Qualitative Research.

Introduction: In natural disasters, children encounter serious health problems.

Method: This qualitative phenomenological study investigated the problems encountered by children with a diagnosis of celiac disease who lived in the earthquake region of Kahramahmaras in Turkey. Colaizzi method, a phenomenological research method, was used in the study.

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.

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.

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.

Caffeine, Daytime Sleepiness, and Conduct Problems Among Early Adolescents: A Longitudinal Analysis.

Purpose: Recent research suggests that caffeine use may promote a range of adjustment difficulties among adolescents, particularly during the middle school years. The effects of caffeine are particularly concerning given the increased use of high-dosage caffeine products, such as energy drinks, among youth. We investigated the influence of caffeine use on trajectories of conduct problems among early adolescents.

Safe Pediatric Surgery: Turkish Adaptation of the Road to My Surgery Preoperative Checklist.

Purpose: This study was conducted to evaluate the Turkish adaptation of the Road to My Surgery Preoperative Checklist.

Design: A methodological, correlational, and comparative study.

Methods: This study was conducted with 125 children between July 2022 and December 2023.

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.