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.

Carboplatin in combination with etoposide for advanced small cell lung cancer complicated with idiopathic interstitial pneumonia: a single-arm phase II study.

Background: Acute exacerbation (AEx) of interstitial pneumonia is the most common lethal adverse event related to the pharmacological treatment of patients with lung cancer complicated with interstitial pneumonia. Although small cell lung cancer (SCLC) is linked to poor prognosis, it exhibits good response to chemotherapy. Few previous research studies have investigated the safety and efficacy of treatment for advanced SCLC complicated with idiopathic interstitial pneumonia (IIP).

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).

Chemically Hydrophobic and Structurally Antireflective Nanocoatings in Butterflies.

Moth-eye nanostructures, known for their biological antireflective properties, are formed by a self-assembly mechanism. Understanding and replicating this mechanism on artificial surfaces open avenues for the engineering of bioinspired multifunctional nanomaterials. Analysis of corneal nanocoatings from butterflies of the genus reveals a variety of nanostructures with uniformly strong antiwetting properties accompanied by varying antireflective functionalities.

Reinventing type 2 immunity in cancer.

Our understanding of type 2 immunity has undergone a substantial transformation in recent years, revealing previously unknown functions. Beyond its canonical role in defence against parasitic helminth infections, type 2 immunity safeguards the host through additional mechanisms, including the suppression of excessive type 1 immune responses, regulation of tissue repair and maintenance of adipose tissue homeostasis. However, unlike type 1 immune responses, type 2 immunity is perceived as a potential promoter of tumorigenesis.

Excitons in the fractional quantum Hall effect.

Excitons, Coulomb-driven bound states of electrons and holes, are typically composed of integer charges. However, in bilayer systems influenced by charge fractionalization, a more interesting form of interlayer exciton can emerge, in which pairing occurs between constituents that carry fractional charges. Despite numerous theoretical predictions for these fractional excitons, their experimental observation has remained unexplored.

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.

Microscopic structural origin of slow dynamics in glass-forming liquids.

Supercooled liquids display sluggish dynamics, often attributed to their structural characteristics, yet the underlying mechanism remains elusive. Here we conduct numerical investigations into the structure-dynamics relationship in model glass-forming liquids, with a specific focus on an elementary particle rearrangement mode known as the 'T1 process'. We discover that the ability of a T1 process to preserve glassy structural order before and after is pivotal towards determining a liquid's fragility-whether it exhibits super-Arrhenius-like or Arrhenius-like behaviour.

Spin polarization detection via chirality-induced tunnelling currents in indium selenide.

Chirality, a basic property of symmetry breaking, is crucial for fields such as biology and physics. Recent advances in the study of chiral systems have stimulated interest in the discovery of symmetry-breaking states that enable exotic phenomena such as spontaneous gyrotropic order and superconductivity. Here we examine the interaction between light chirality and electron spins in indium selenide and study the effect of magnetic field on emerging tunnelling photocurrents at the Van Hove singularity.

Management, biomarkers and prognosis in people developing endocrinopathies associated with immune checkpoint inhibitors.

Immune-related adverse events (irAEs), including endocrine irAEs, can occur in response to cancer immunotherapy using immune checkpoint inhibitors (ICIs). Of the endocrine irAEs, pituitary and thyroid irAEs are most frequently observed, followed by primary adrenal insufficiency, type 1 diabetes mellitus and hypoparathyroidism. Notably, pituitary irAEs and type 1 diabetes mellitus can be lethal if overlooked, potentially leading to adrenal crisis and diabetic ketoacidosis, respectively.

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.

Leucine-rich alpha-2-glycoprotein 1 deficiency suppresses ischemia-reperfusion injury-induced renal fibrosis.

Ischemia reperfusion injury (IRI) is a major cause of acute kidney injury (AKI) and ultimately leads to renal fibrosis, primarily via the transforming growth factor-β (TGF-β) pathway. Leucine-rich alpha-2-glycoprotein 1 (LRG1), a novel modulator of the TGF-β pathway, has been implicated in the modulation of renal fibrosis by affecting the TGF-β/Smad3 signaling axis. However, the role of LRG1 in the transition from AKI to chronic kidney disease (CKD) remains unclear.

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.

Janus graphene nanoribbons with localized states on a single zigzag edge.

Topological design of π electrons in zigzag-edged graphene nanoribbons (ZGNRs) leads to a wealth of magnetic quantum phenomena and exotic quantum phases. Symmetric ZGNRs typically show antiferromagnetically coupled spin-ordered edge states. Eliminating cross-edge magnetic coupling in ZGNRs not only enables the realization of a class of ferromagnetic quantum spin chains, enabling the exploration of quantum spin physics and entanglement of multiple qubits in the one-dimensional limit, but also establishes a long-sought-after carbon-based ferromagnetic transport channel, pivotal for ultimate scaling of GNR-based quantum electronics.

A rare PRIMER cell state in plant immunity.

Plants lack specialized and mobile immune cells. Consequently, any cell type that encounters pathogens must mount immune responses and communicate with surrounding cells for successful defence. However, the diversity, spatial organization and function of cellular immune states in pathogen-infected plants are poorly understood.

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.