Mutation Analysis of TMB-High Colorectal Cancer: Insights Into Molecular Pathways and Clinical Implications.

Colorectal cancer (CRC) is well characterized in terms of genetic mutations and the mechanisms by which they contribute to carcinogenesis. Mutations in APC, TP53, and KRAS are common in CRC, indicating key roles for these genes in tumor development and progression. However, for certain tumors with low frequencies of these mutations that are defined by tumor location and molecular phenotypes, a carcinogenic mechanism dependent on BRAF mutations has been proposed.

Importance of EQA/PT for the detection of genetic variants in comprehensive cancer genome testing.

Comprehensive genomic profiling (CGP) is increasingly used as a clinical laboratory test and being applied to cancer treatment; however, standardization and external quality assessments (EQA) have not been fully developed. This study performed cost-effective EQA and proficiency tests (PT) for CGP testing among multiple institutions those belong to the EQA working group of Japan Association for Clinical Laboratory Science (JACLS). This study revealed that preanalytical processes, such as derived nucleic acids (NA) extraction from formalin fixed paraffine embedded (FFPE) samples, are critical.

Effect of body mass index on post-treatment oral function in patients with oral cancer: a cross-sectional study.

This single-center cross-sectional study used sequential sampling to examine the influence of body mass index (BMI) on oral function after oral cancer treatment. Patients who completed primary oral cancer treatment between September 2019 and March 2023 (102 patients, 74 male [72.5%] and 28 female [27.

Association of the number of remaining teeth with kidney function in community-dwelling healthy older adults: a cross-sectional study.

Objectives: Although a few studies have investigated the relationship between kidney and oral function (number of remaining teeth), their results remain inconclusive. Therefore, this study aimed to investigate the relationship between kidney function and oral health in community-dwelling healthy elderlies and examine the factors associated with kidney function.

Materials And Methods: We used cross-sectional data from the Shimane prefecture cohort recruited by the Center for Community-Based Health Research and Education in 2019.

Fast Eating Speed Could Be Associated with HbA1c and Salt Intake Even after Adjusting for Oral Health Status: A Cross-Sectional Study.

This study aimed to examine the relationship between eating speed and hemoglobin A1c (HbA1c), considering the number of teeth, using cross-sectional health examination data from community-dwelling older individuals in Japan. We used data from the Center for Community-Based Healthcare Research and Education Study in 2019. We collected data on gender, age, body mass index, blood test results, Salt intake, bone mineral density, body fat percentage, muscle mass, basal metabolic rate, number of teeth, and lifestyle information.

Estimating copy number to determine BRCA2 deletion status and to expect prognosis in localized prostate cancer.

Background: The significance of BRCA alterations has been implicated in the development of metastatic castration-resistant prostate cancer (PC). The details of the frequency and significance of BRCA alterations in localized PC remain unknown. In this study, we investigated the frequency and clinical significance of BRCA alterations in localized PCs using an in-house next-generation sequencer (NGS) system.

Oral Dysfunction in Patients with Oral Cancer Could Occur Before Treatment and Require Early Nutritional Improvement: A Cross-Sectional Study.

Patients with oral cancer have poor nutritional status before treatment. However, there have been no reports of the detailed evaluation of preoperative oral function in patients with oral squamous cell carcinoma (OSCC). Therefore, this study aimed to evaluate the preoperative oral function of patients with OSCC and examine the relationship with nutritional status.

Development of a Subjective Symptom Rating Scale for Postoperative Oral Dysfunction in Patients with Oral Cancer: Reliability and Validity of the Postoperative Oral Dysfunction Scale-10.

Currently, there is no scale to subjectively assess postoperative oral dysfunction in patients with oral cancer. The purpose of this study was to evaluate the reliability and validity of the Postoperative Oral Dysfunction Scale (POD-10) that we developed. Between September 2019 and August 2021, 62 eligible oral cancer patients (median age, 72 years; 42 men and 20 women) were enrolled in the study.

Relationship between Masticatory Function and Bone Mineral Density in Community-Dwelling Elderly: A Cross-Sectional Study.

The relationship between masticatory function and bone mineral density (BMD) is unclear. This cross-sectional study examined this relationship after adjusting for confounding factors. The subjects were 702 community-dwelling elderly adults (306 men, 396 women) who had been recruited for the Community-Based Healthcare Research and Education study in 2019.

Relationship between Oral Health Status and Bone Mineral Density in Community-Dwelling Elderly Individuals: A Cross-Sectional Study.

The relationship between oral health status and bone mineral density has been poorly elucidated. We conducted a cross-sectional study to examine the relationship between oral health status and bone mineral density with data from healthy community-dwelling elderly individuals in Ohnan-cho, Shimane Japan who were recruited in 2019 for the Shimane Center for Community-Based Health Research and Education (CoHRE) study. The study included 702 participants (306 men and 396 women).

Proposal of Dental Hygiene Diagnosis for Cancer Patients Based on Dental Hygiene Process of Care in Acute Care Hospitals: A Narrative Review.

A narrative review was conducted to propose dental hygiene diagnoses for cancer patients based on dental hygiene process of care in acute care hospitals. Six researchers, including three dental hygienists, all with expertise in oral healthcare for patients with cancer, decided the review outline. All researchers reviewed the literature and developed terminology for dental hygiene diagnoses.

Carbonyl Stress and Microinflammation-Related Molecules as Potential Biomarkers in Schizophrenia.

This literature review primarily aims to summarize our research, comprising both cross-sectional and longitudinal studies, and discuss the possibility of using microinflammation-related biomarkers as peripheral biomarkers in the diagnosis and monitoring of patients with schizophrenia. To date, several studies have been conducted on peripheral biomarkers to recognize the potential markers for the diagnosis of schizophrenia and to determine the state and effects of therapy in patients with schizophrenia. Research has established a correlation between carbonyl stress, an environmental factor, and the pathophysiology of neuropsychiatric diseases, including schizophrenia.

High serum soluble tumor necrosis factor receptor 1 predicts poor treatment response in acute-stage schizophrenia.

Inflammation may be involved in the pathophysiology of schizophrenia. However, few cross-sectional or longitudinal studies have examined changes in biomarker expression to evaluate diagnostic and prognostic efficacy in acute-stage schizophrenia. We compared serum inflammatory biomarker concentrations in 87 patients with acute-stage schizophrenia on admission to 105 age-, sex-, and body mass index (BMI)-matched healthy controls.

High doses of antipsychotic polypharmacy are related to an increase in serum levels of pentosidine in patients with schizophrenia.

Background: Carbonyl stress in patients with schizophrenia has been reported to be reflected by an increase in peripheral pentosidine levels. This cohort study tested whether the accumulation of pentosidine was related to the disease severity or the treatment (routine administration of high antipsychotic doses).

Methods: We followed up our original investigation using a new group of 137 patients with acute schizophrenia and 45 healthy subjects, and then pooled the two cohorts to conduct the following analysis on a total of 274 patients.

Associations of common copy number variants in glutathione S-transferase mu 1 and D-dopachrome tautomerase-like protein genes with risk of schizophrenia in a Japanese population.

Oxidative-stress, genetic regions of interest (1p13 and 22q11), and common copy number variations (CNVs) may play roles in the pathophysiology of schizophrenia. In the present study, we confirmed associations between schizophrenia and the common CNVs in the glutathione (GSH)-related genes GSTT1, DDTL, and GSTM1 using quantitative real-time polymerase chain reaction analyses of 620 patients with schizophrenia and in 622 controls. No significant differences in GSTT1 copy number distributions were found between patient groups.

Altered serum glyceraldehyde-derived advanced glycation end product (AGE) and soluble AGE receptor levels indicate carbonyl stress in patients with schizophrenia.

Recent cross-sectional and longitudinal studies indicate that measurements of peripheral blood carbonyl stress markers such as the advanced glycation end product (AGE) pentosidine and the reactive carbonyl-detoxifying B6 vitamin pyridoxal could be used as therapeutic biological markers in subpopulations of schizophrenia patients. Glyceraldehyde-derived AGEs (Glycer-AGE) have strong neurotoxicity, and soluble receptors for AGEs (sRAGE) may ameliorate the effects of AGEs. In the present study, we measured Glycer-AGEs and sRAGE levels to determine their potential as diagnostic, therapeutic, or clinical biological markers in patients with schizophrenia.

Autocrine pathways involving S100A8 and/or S100A9 that are postulated to regulate the immunological functions of macrophages in rats.

The development of ulcerative colitis (UC) is closely associated with abnormally functioning macrophages. Rat S100A8 (r-S100A8) and r-S100A9 (S100 proteins) is abundantly expressed in immune cells of myeloid origin, macrophages; however, it remains unclear why r-S100A9 is dominantly expressed in the macrophages of UC rats (UCR). The purpose of this study was to verify the immunological roles of S100 proteins in UCR.

Clinical usefulness of the PAXgene™ bone marrow RNA system for stabilizing total RNA.

The collection of clinical samples, such as bone marrow (BM) and peripheral blood, is an important procedure for the extraction of the cellular RNA. It is essential to preserve the extracted RNA during and after the collection of clinical samples to ensure the accurate analysis of gene expression. To date, the PAXgene™ Blood RNA System has been proven useful for stabilizing RNA extracted from peripheral blood; however, a problem concerning the stability of the total RNA stored using the system has been identified.

Significance of measurements of peripheral carbonyl stress markers in a cross-sectional and longitudinal study in patients with acute-stage schizophrenia.

Altered peripheral carbonyl stress markers, high levels of serum pentosidine, which accumulates following carbonyl stress, and low levels of pyridoxal (vitamin B6), which detoxifies reactive carbonyl compounds, have been reported in a cross-sectional study of chronic schizophrenia. However, changes in the levels of these compounds in patients with schizophrenia have not been investigated in a longitudinal study. To clarify whether these markers may be biological markers that reflect the clinical course of the disease, the serum levels of these compounds were investigated in a cross-sectional and a longitudinal study.

Acquired resistance of leukemic cells to AraC is associated with the upregulation of aldehyde dehydrogenase 1 family member A2.

The elucidation of drug resistance mechanisms is important in the development of clinical therapies for the treatment of leukemia. To study the drug resistance mechanisms, protein expression profiles of 1-β-D-arabinofuranosylcytosine (AraC)-sensitive K562 (K562S) cells and AraC-resistant K562 (K562AC) cells were compared using two-dimensional fluorescence difference gel electrophoresis. In a comparison of protein expression profiles, 2073 protein spots were found to be altered, and 15 proteins of them were remarkably altered.

No Associations Found between PGBD1 and the Age of Onset in Japanese Patients Diagnosed with Sporadic Alzheimer's Disease.

Background/aims: PiggyBac transposable element derived 1 (PGBD1) encodes a molecule involved in epigenetic mechanisms that have been implicated in Alzheimer's disease (AD), and recent genome-wide association studies and meta-analyses have indicated that a single nucleotide polymorphism (SNP), rs3800324, in PGBD1 could be associated with AD and the age of onset. However, no Japanese patients were examined in these studies. The aim of the present study was to replicate the previous finding in Japanese AD cases.

[Current update and testing procedures for genetic diagnosis in malignant neoplasm: additional information on pathological tests].

Targeted therapy refers to anticancer treatment which specifically targets key molecules of cancer cells. The higher levels of expression of the epidermal growth factor receptor (EGFR) have also been shown to be correlated with non-small-cell lung cancer (NSCLC) and colorectal cancer (CRC). Potential biomarkers should be investigated for the selection of patients with NSCLC most likely to benefit from epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs), such as gefitinib.

[Problems of pre-analysis in genetic testing].

Genetic testing has been developed to confirm various disorders and is applied widely as a fast-growing diagnostic tool. Laboratories performing genetic testing are needed to ensure quality assurance. Accurate and precise testing using nucleic acid extracted from various samples is important as pre-analysis as the results can be affected by bias introduced by sample preparations.

Dose-dependency in pleiotropic effects of atorvastatin.

Statins are recognized as the principal and most effective class of drugs for reducing serum cholesterol levels and, therefore, significantly reducing cardiovascular events and mortality. Statins may have a wide range of beneficial biological effects in addition to lipid lowering, a phenomenon commonly termed a 'pleiotropic effect'. However, the dose-dependency of these effects remains unclear.