Two independent families with de novo whole APC gene deletion and intellectual disability: a case report.

Background: Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumour syndrome characterised by the formation of multiple adenomatous polyps throughout the colon. It is important to understand the extracolonic phenotype that characterizes FAP. Most previous case reports of patients with both FAP and intellectual disability (ID) have described deletions in all or part of chromosome 5q, including the APC locus.

Implant failure of the Compress prosthesis: a case report.

Background: The Compress is designed to achieve bone formation and stability by applying pressure at the bone-implant interface, minimizing the likelihood of aseptic loosening, which is a complication of stem implants. Herein, we report two cases of implant failure using the Compress.

Case Presentation: Case 1 describes a 36 year-old Japanese man who underwent extraarticular tumor resection, Compress arthroplasty, and reconstruction with a gastrocnemius flap after preoperative chemotherapy for a secondary malignant giant cell tumor in the right distal femur.

High incidence of radiation-induced brain necrosis in the periventricular deep white matter: stereotactic radiotherapy for brain metastases using volumetric modulated arc therapy.

Purpose: In this retrospective study, we aimed to evaluate the efficacy and incidence of radiation-induced brain necrosis (RBN) after volumetric modulated arc therapy-based stereotactic irradiation (VMAT-STI) for brain metastases.

Methods: In the 220 brain metastatic lesions included between January 2020 and June 2022, there were 1-9 concurrently treated lesions (median 1). A biologically effective dose (BED)10 of 80 Gy and a reduced BED10 of 50 Gy were prescribed to the gross tumor volume (GTV) and planning target volume (PTV) (PTV = GTV + 3 mm) margins, respectively.

Evaluation of One Step Nucleic Acid Amplification for detection of lymph node metastases compared to histopathological ultrastaging in women with endometrial cancer: a protocol for a diagnostic accuracy study.

Background: This is a multicentre, European, prospective trial evaluating the diagnostic accuracy of One Step Nucleic Acid Amplification (OSNA) compared to sentinel lymph nodes histopathological ultrastaging in endometrial cancer patients.

Methods: Centres with expertise in sentinel lymph node mapping in endometrial cancer patients in Europe will be invited to participate in the study. Participating units will be trained on the correct usage of the OSNA RD-210 analyser and nucleic acid amplification reagent kit LYNOAMP CK19 E for rapid detection of metastatic nodal involvement, based on the cytokeratin 19 (CK19) mRNA detection.

Association of remote work with tobacco and alcohol use: a cross-sectional study in Japan.

Background: Remote work allows one to work free from workplace policy, but it may negatively affect health-related behaviors such as tobacco product use and alcohol drinking. Our study aimed to investigate the association of remote work with tobacco dependence and hazardous alcohol use.

Methods: This nationwide Internet-based survey was conducted in Japan in February 2023.

COVID-19 workplace countermeasures that occupational physicians could not change in Japan: a qualitative study.

Background: During the COVID-19 pandemic, information and circumstances changed from moment to moment, including the accumulation of scientific knowledge, the emergence of variants, social tolerance, and government policy. Therefore, it was important to adapt workplace countermeasures punctually and flexibly based on scientific evidence and according to circumstances. However, there has been no assessment of changes in workplace countermeasures.

Association between physical multimorbidity in middle adulthood and mortality: findings from two large cohort studies in Japan.

Background: While previous literature suggests that multimorbidity is linked to a higher risk of mortality, evidence is scarce among individuals in middle adulthood. We aimed to examine the association between physical multimorbidity and all-cause mortality among individuals aged 40-64 years at baseline in Japan.

Methods: Data were obtained from two cohort studies, the Japan Public Health Center-based Prospective Study (JPHC) and the Japan Epidemiology Collaboration on Occupational Health Study (J-ECOH).

Gender Differences in the Effects of Trust on Substance Abuse Severity Among Incarcerated Stimulant Offenders in Japan.

Background: Treatment of stimulant offenders in Japan is an urgent issue. One of the more recent support approaches for stimulant offenders in Japan is to understand and support them based on a self-medication hypothesis; however, the effect of trust on substance abuse severity among incarcerated stimulant offenders has not been examined. Additionally, while accounting for gender differences is essential when providing support for them, these differences have not also been examined.

Effects of hook size on the catch variation, size selectivity, and bycatch of the bottom set longline fisheries targeting nemipterid fishes in the Philippines.

In the Philippines, nemipterid fishes hold substantial economic importance due to their high market value. However, the local longline fisheries lack specific regulations for managing the capture of these fishes. This study aimed to determine the optimum hook size for increasing catchability in nemipterid fishing while minimizing bycatch, thus promoting sustainable fisheries.

One-quarter of freshwater fauna threatened with extinction.

Freshwater ecosystems are highly biodiverse and important for livelihoods and economic development, but are under substantial stress. To date, comprehensive global assessments of extinction risk have not included any speciose groups primarily living in freshwaters. Consequently, data from predominantly terrestrial tetrapods are used to guide environmental policy and conservation prioritization, whereas recent proposals for target setting in freshwaters use abiotic factors.

Association between allergic diseases and mucosal healing in ulcerative colitis.

Allergic diseases and ulcerative colitis (UC) share pathophysiological similarities. This study aimed to investigate the unclear association between allergic diseases and mucosal healing (MH), an important factor in the prognosis of UC. We studied 289 Japanese patients with UC.

Deletion of IRS-1 leads to growth failure and insulin resistance with downregulation of liver and muscle insulin signaling in rats.

Insulin receptor substrate (IRS)-1 and IRS-2 are major molecules that transduce signals from insulin and insulin-like growth factor-I receptors. The physiological functions of these proteins have been intensively investigated in mice, while little is known in other animals. Our previous study showed that the disruption of IRS-2 impairs body growth but not glucose tolerance or insulin sensitivity in rats, which led us to hypothesize that IRS-1 plays more pivotal roles in insulin functions than IRS-2.

Artificial intelligence for body composition assessment focusing on sarcopenia.

This study aimed to address the limitations of conventional methods for measuring skeletal muscle mass for sarcopenia diagnosis by introducing an artificial intelligence (AI) system for direct computed tomography (CT) analysis. The primary focus was on enhancing simplicity, reproducibility, and convenience, and assessing the accuracy and speed of AI compared with conventional methods. A cohort of 3096 cases undergoing CT imaging up to the third lumbar (L3) level between 2011 and 2021 were included.

Long-term intake of Tamogi-take mushroom (Pleurotus cornucopiae) mitigates age-related cardiovascular dysfunction and extends healthy life expectancy.

Age-related declines in cardiac function and exercise tolerance interfere with healthy living and decrease healthy life expectancy in older individuals. Tamogi-take mushrooms (Pleurotus cornucopiae) are known to contain high levels of Ergothioneine (EGT), an antioxidant with potential health benefits. In this study, we assessed the possibility that long-term consumption of Tamogi-take mushrooms might attenuate age-related decline in cardiac and vascular endothelial function in mice.

Autonomous ribosome biogenesis in vitro.

Ribosome biogenesis is pivotal in the self-replication of life. In Escherichia coli, three ribosomal RNAs and 54 ribosomal proteins are synthesized and subjected to cooperative hierarchical assembly facilitated by numerous accessory factors. Realizing ribosome biogenesis in vitro is a critical milestone for understanding the self-replication of life and creating artificial cells.

YAP-driven malignant reprogramming of oral epithelial stem cells at single cell resolution.

Tumor initiation represents the first step in tumorigenesis during which normal progenitor cells undergo cell fate transition to cancer. Capturing this process as it occurs in vivo, however, remains elusive. Here we employ spatiotemporally controlled oncogene activation and tumor suppressor inhibition together with multiomics to unveil the processes underlying oral epithelial progenitor cell reprogramming into tumor initiating cells at single cell resolution.

Rapid High-Sensitivity Analysis of Methane Clumped Isotopes (ΔCHD and ΔCHD) Using Mid-Infrared Laser Spectroscopy.

Mid-infrared laser absorption spectroscopy enables rapid and nondestructive analysis of methane clumped isotopes. However, current analytical methods require a sample size of 20 mL STP (0.82 mmol) of pure CH gas, which significantly limits its application to natural samples.

Prognostic significance of neutrophil-to-lymphocyte ratio, platelet-to-lymphocyte ratio, and monocyte-to-lymphocyte ratio in uterine carcinosarcoma.

Introduction: Uterine carcinosarcoma (UCS) and uterine sarcomas (US) are rare but aggressive cancer with poor prognoses. The prognostic value of systemic inflammatory response (SIR) indicators, including the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and monocyte-to-lymphocyte ratio (MLR), in predicting outcomes of UCS and US remains unclear. This study investigated the prognostic significance of SIR indicators for UCS and US.

Treatment outcomes and prognostic factors in patients with colorectal cancer and synchronous lung metastases in the conversion therapy era.

Purpose: The Japanese Grade Classification based on the status of pulmonary and mesenteric nodal metastases and the presence of extrapulmonary metastases had a prognostic value in patients with colorectal lung metastases previously. Because the survival of such patients has improved in the era of conversion therapy, this classification needs to be reaudited.

Methods: This study reviewed the treatment sequences of 126 colorectal cancer patients with synchronous lung metastases between 2010 and 2022 at our hospital.

Long-term immune responses induced by low-dose infection with high pathogenicity avian influenza viruses can protect mallards from reinfection with a heterologous strain.

Migratory water birds are considered to be carriers of high pathogenicity avian influenza viruses (HPAIVs). In Japan, mallards are often observed during winter, and HPAIV-infected mallards often shed viruses asymptomatically. In this study, we focused on mallards as potential carriers of HPAIVs and investigated whether individual wild mallards are repeatedly infected with HPAIVs and act as HPAIV carriers multiple times within a season.

Economic evaluation of newborn screening for congenital cytomegalovirus infection: A systematic review.

Purpose: This systematic review analyzes economic evaluations of newborn screening for congenital cytomegalovirus (cCMV) infection to identify key factors influencing cost-effectiveness and differences in methodological approaches.

Methods: Following a pre-registered PROSPERO protocol (CRD42023441587), we conducted a comprehensive literature search across multiple databases on July 4, 2024. The review included both full economic evaluations (cost and outcomes) and partial economic evaluations (cost only).

Stereoselective Preparation and Pd-catalyzed Suzuki-Miyaura Cross-coupling of Alkenyl Sulfoximine.

Although numerous transition-metal catalyzed cross-coupling reactions of alkenyl electrophiles with a sulfur(VI) leaving group, mainly alkenyl sulfones, have been developed, most rely heavily on highly nucleophilic Grignard reagents, and the use of organoboron reagents remains challenging. We report herein facile preparation and the following Pd-catalyzed Suzuki-Miyaura cross-coupling reaction of alkenyl sulfoximine, a monoaza analog of sulfone. The condensation of alkyl sulfoximine with aldehydes, developed in this study, makes alkenyl sulfoximines more readily available.

Sex-, age- and season-specific variations in accidental deaths from stumbling falls, bathtub drowning, food choking and traffic injuries among older adults in Japan.

Aim: The aim of this study was to identify opportunities for more effective measures. We analyzed sex-, age- and season-specific trends in unintentional accidental deaths from stumbling falls, bathtub drowning, food choking and traffic injuries among older adults in Japan.

Methods: Death rates from major unintentional accidents were analyzed by sex, month and 5-year age groups (aged ≥50 years) based on a custom-made aggregation of data from the Vital Statistics survey (2008-2022) in compliance with the Statistics Act.

Orderly Regulation of Macrophages and Fibroblasts by Axl in Bleomycin-Induced Pulmonary Fibrosis in Mice.

Pulmonary fibrosis is a pathological manifestation that occurs upon lung injury and subsequence aberrant repair with poor prognosis. However, current treatment is limited and does not distinguish different disease stages. Here, we aimed to study the differential functions of Axl, a receptor tyrosine kinase expressing on both macrophages and fibroblasts, in the whole course of pulmonary fibrosis.

Subcutaneous adipose tissue radiodensity as a predictor of poor prognosis in advanced biliary tract cancer.

Background: High subcutaneous adipose tissue radiodensity (SATr), an indirect surrogate marker of adipose tissue quality, was associated with poor prognosis in various cancers. The present study aimed to assess the association of SATr with survival outcomes in patients with advanced biliary tract cancer (BTC).

Methods: This retrospective, single-center study included patients with unresectable or recurrent BTC who underwent chemotherapy/chemoradiotherapy.