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.

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.

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).

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.

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.

Impact of Periodontal Treatment on Early Rheumatoid Arthritis and the Role of Porphyromonas gingivalis Antibody Titers.

BACKGROUND Periodontal disease and rheumatoid arthritis (RA) are closely related, and periodontal therapy can potentially improve RA activity. However, it is not clear in which RA patient populations are more effective periodontal therapy for RA treatment. This study aimed to evaluate the effects of treatment for periodontal disease in 30 patients with rheumatoid arthritis and the titers of antibodies to Porphyromonas gingivalis (P.

Sustained effects of bladder point-of-care ultrasound simulation exercise on nursing students: A prospective cohort study.

Background: Point-of-care ultrasound (POCUS) can be used in a variety of clinical settings and is a safe and powerful tool for ultrasound-trained healthcare providers, such as physicians and nurses; however, the effectiveness of ultrasound education for nursing students remains unclear. This prospective cohort study aimed to examine the sustained educational impact of bladder ultrasound simulation among nursing students.

Methods: To determine whether bladder POCUS simulation exercises sustainably improve the clinical proficiency regarding ultrasound examinations among nursing students, evaluations were conducted before and after the exercise and were compared with those after the 1-month follow-up exercise.

Intestinal obstruction caused by disseminated mycobacterium avium complex disease following solid organ transplantation: a case report.

Background: Mycobacterium avium complex (MAC) is a common pathogen causing non-tuberculous mycobacterial infections, primarily affecting the lungs. Disseminated MAC disease occurs mainly in immunocompromised individuals, such as those with acquired immunodeficiency syndrome, hematological malignancies, or those positive for anti-interferon-γ antibodies. However, its occurrence in solid organ transplant recipients is uncommon.

Novel continuous and quantitative intraoperative facial nerve-monitoring system for temporal bone lesions.

Objective: Intraoperative systems for monitoring facial nerve function, in which temporal electrical stimulation is applied to the facial nerve through electrodes, are used in many surgeries requiring facial nerve preservation; however, continuous stimulation or quantitative evaluation of facial nerve function is difficult with this approach. We examined the usefulness of a continuous and quantitative facial nerve-monitoring system for temporal bone lesions by using our experience to modify the existing methods used for cases involving vestibular schwannomas.

Study Design: Retrospective observational study.

Inaudible airborne ultrasound affects emotional states in the olfactory bulbectomized rat depression model.

Recently, exposure to sounds with ultrasound (US) components has been shown to modulate brain activity. However, the effects of US on emotional states remain poorly understood. We previously demonstrated that the olfactory bulbectomized (OBX) rat depression model is suitable for examining the effects of audible sounds on emotionality.

Cachectic biomarkers as confounders behind the obesity paradox in patients with acute decompensated heart failure.

Background: Obesity is a risk factor for heart failure (HF) development but is associated with a lower incidence of mortality in HF patients. This obesity paradox may be confounded by unrecognized comorbidities, including cachexia.

Methods: A retrospective assessment was conducted using data from a prospectively recruiting multicenter registry, which included consecutive acute heart failure patients.

Encorafenib, cetuximab and chemotherapy in BRAF-mutant colorectal cancer: a randomized phase 3 trial.

Encorafenib + cetuximab (EC) is approved for previously treated BRAF V600E-mutant metastatic colorectal cancer (mCRC) based on the BEACON phase 3 study. Historically, first-line treatment of BRAF V600E-mutant mCRC with chemotherapy regimens has had limited efficacy. The phase 3 BREAKWATER study investigated EC+mFOLFOX6 versus standard of care (SOC) in patients with previously untreated BRAF V600E mCRC.

Estimating self-performance when making complex decisions.

Metacognition, the ability to monitor and reflect on our own mental states, enables us to assess our performance at different levels - from confidence in individual decisions to overall self-performance estimates (SPEs). It plays a particularly important part in computationally complex decisions that require a high level of cognitive resources, as the allocation of such limited resources presumably is based on metacognitive evaluations. However, little is known about metacognition in complex decisions, in particular, how people construct SPEs.

Pseudogenization of the Slc23a4 gene is necessary for the survival of Xdh-deficient mice.

In most patients with type 1 xanthinuria caused by mutations in the xanthine dehydrogenase gene (XDH), no clinical complications, except for urinary stones, are observed. In contrast, all Xdh(- / -) mice die due to renal failure before reaching adulthood at 8 weeks of age. Hypoxanthine or xanthine levels become excessive and thus toxic in Xdh(- / -) mice because enhancing the activity of hypoxanthine phosphoribosyl transferase (HPRT), which is an enzyme that uses hypoxanthine as a substrate, slightly increases the life span of these mice.

Osilodrostat improves blood pressure and glycemic control in patients with Cushing's disease: a pooled analysis of LINC 3 and LINC 4 studies.

Purpose: To evaluate the effect of osilodrostat and hypercortisolism control on blood pressure (BP) and glycemic control in patients with Cushing's disease.

Methods: Pooled analysis of two Phase III osilodrostat studies (LINC 3 and LINC 4), both comprising a 48-week core phase and an optional open-label extension. Changes from baseline in systolic and diastolic BP (SBP and DBP), fasting plasma glucose (FPG), and glycated hemoglobin (HbA) were evaluated during osilodrostat treatment in patients with/without hypertension or diabetes at baseline.

Novel treatment strategy targeting interleukin-6 induced by cancer associated fibroblasts for peritoneal metastasis of gastric cancer.

Cancer-associated fibroblasts (CAFs) are a crucial component in the tumor microenvironment (TME) of peritoneal metastasis (PM), where they contribute to tumor progression and metastasis via secretion of interleukin-6 (IL-6). Here, we investigated the role of IL-6 in PM of gastric cancer (GC) and assessed whether anti-IL-6 receptor antibody (anti-IL-6R Ab) could inhibit PM of GC. We conducted immunohistochemical analysis of IL-6 and α-smooth muscle (α-SMA) expressions in clinical samples of GC and PM, and investigated the interactions between CAFs and GC cells in vitro.

Randomized controlled trial on the efficacy of forest walking compared to urban walking in enhancing mucosal immunity.

Scientific research on forest therapy's preventive medical and mental health effects has advanced, but the need for clear evidence for practical applications remains. We conducted an unblinded randomized controlled trial involving healthy men aged 40-70 to compare the physiological and psychological effects of forest and urban walking. Eighty-four participants were randomly assigned to either the forest or urban group, with 78 completing 90-min walks and analysis.

Development of detection system for lead ions in mixture solutions using UV-Vis measurements with peptide immobilized microbeads.

Environmental pollution caused by heavy metals are problems worldwide. In particular, pollution and poisoning by lead ions (Pb) continue to be common and serious problems. Hence, there is a need for a widely usable method to easily detect Pb from solutions containing organic materials from environmental water such as seas, ponds, etc.

Lactiplantibacillus plantarum 22 A-3 ameliorates leaky gut in mice through its anti-inflammatory effects.

There are limited studies on the improvement of leaky gut with minor inflammation associated with various diseases. To explore the therapeutic potential of Lactiplantibacillus plantarum 22 A-3, a member of the Lactobacillus species, in addressing a leaky gut. Lactiplantibacillus plantarum 22 A-3 was administered to a leaky gut mice model with low dextran sulfate sodium concentrations.

Branched-chain amino acids and specific phosphatidylinositols are plasma metabolite pairs associated with menstrual pain severity.

Menstrual pain affects women's quality of life and productivity, yet objective molecular markers for its severity have not been established owing to the variability in blood levels and chemical properties of potential markers such as plasma steroid hormones, lipid mediators, and hydrophilic metabolites. To address this, we conducted a metabolomics study using five analytical methods to identify biomarkers that differentiate menstrual pain severity. This study included 20 women, divided into mild (N = 12) and severe (N = 8) pain groups based on their numerical pain rating scale.

Enhancing food and nutrition security in Himalayan foothills with neglected and underutilized millets.

Global food production predominantly depends on a limited number of cereal crops; however, numerous other crops have the potential to support the nutrition and economy of many local communities in developing countries. The different crop species characterized as having relatively low perceived economic importance or agricultural significance are known as underutilized crops. Millet is one of the underutilized crops with significant potential to address nutrient and hunger-related challenges in many developing countries like Nepal due to its versatility and climate resilience.

Clinical and biochemical factors associated with amygdalar metabolic activity.

We investigated clinical factors and biochemical markers associated with amygdalar metabolic activity evaluated by [F]-fluorodeoxyglucose-positron emission tomography (FDG-PET) in 346 subjects without a history of malignant neoplasms. Univariate regression analysis revealed significant relationships between amygdalar metabolic activity and fasting plasma glucose (FPG), glycated hemoglobin, coronary artery disease (CAD) history, aspirin use, oral hypoglycemic agents (OHAs) use, and asymmetric dimethylarginine (ADMA). In multiple stepwise regression analysis, FPG and CAD history were independently associated with amygdalar metabolic activity.