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.

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.

Dihydromyricetin Protects Against Hypoxia/Reoxygenation Injury in Cardiomyocytes by Activating miR-34a-Mediated Notch1 Pathway.

Dihydromyricetin (Dih), a naturally occurring flavonoid, has been identified to exert a protective effect against ischemia/reperfusion injury. However, the detailed mechanisms remain unclear. Here we investigated the biological role of Dih in preventing hypoxia/reoxygenation (H/R) injury in cardiomyocytes.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Review of Childhood Mortality Pattern at the Paediatric Unit of a Teaching Hospital in Nigeria.

Background: The vital statistics in the third world countries are poor and have witnessed minimal improvement over the years with childhood mortality in Nigeria remaining one of the highest among the developing countries despite various child survival programmes. Child survival strategies can only be efficient if the major reasons for morbidity are known. The objective of this retrospective study was to review the patterns of childhood mortality at the emergency room of the Federal Teaching Hospital, Ido-Ekiti (FETHI).