Meeting report - Alpine desmosome disease meeting 2024: advances and emerging topics in desmosomes and related diseases.

Desmosomes are adhesive cell contacts abundant in tissues exposed to mechanical strain, such as the stratified and simple epithelia of the epidermis and mucous membranes, as well as the myocardium. Besides their role in mechanical cell cohesion, desmosomes also modulate pathways important for tissue differentiation, wound healing and immune responses. Dysfunctional desmosomes, resulting from pathogenic variants in genes encoding desmosomal components, autoantibodies targeting desmosomal adhesion molecules or inflammation, cause the life-threatening diseases arrhythmogenic cardiomyopathy and pemphigus and contribute to the pathogenesis of inflammatory bowel diseases.

Avelumab + axitinib treatment in older patients with advanced renal cell carcinoma in Japan: Subgroup analyses of post-marketing surveillance data by age.

Introduction: Avelumab + axitinib was approved in Japan in December 2019 for the treatment of curatively unresectable or metastatic renal cell carcinoma (RCC) based on results from the JAVELIN Renal 101 trial.

Materials And Methods: To evaluate the safety and effectiveness of avelumab + axitinib in older patients in general clinical practice in Japan, an ad hoc analysis of data from post-marketing surveillance (PMS) by age group was conducted.

Results: The analysis population included 328 patients who had received ≥1 dose of avelumab and were enrolled between December 2019 and May 2021.

Final Analysis of Post-Marketing Surveillance for Avelumab + Axitinib in Patients With Renal Cell Carcinoma in Japan.

Introduction: Avelumab, an anti-programmed death ligand 1 antibody, was approved in combination with axitinib for curatively unresectable or metastatic renal cell carcinoma (RCC) in Japan in December 2019. Because the pivotal JAVELIN Renal 101 study included a limited number of Japanese patients, post-marketing surveillance (PMS) was required to evaluate outcomes (safety and effectiveness) in patients with RCC who received avelumab + axitinib treatment in clinical practice in Japan.

Materials And Methods: We report data from prospective, noncomparative, multicenter, observational PMS in patients with RCC who received ≥ 1 dose of avelumab.

Metagenome-informed metaproteomics of the human gut microbiome, host, and dietary exposome uncovers signatures of health and inflammatory bowel disease.

Host-microbiome-dietary interactions play crucial roles in regulating human health, yet their direct functional assessment remains challenging. We adopted metagenome-informed metaproteomics (MIM), in mice and humans, to non-invasively explore species-level microbiome-host interactions during commensal and pathogen colonization, nutritional modification, and antibiotic-induced perturbation. Simultaneously, fecal MIM accurately characterized the nutritional exposure landscape in multiple clinical and dietary contexts.

Deep Learning-Enabled Assessment of Right Ventricular Function Improves Prognostication After Transcatheter Edge-to-Edge Repair for Mitral Regurgitation.

Background: Right ventricular (RV) function has a well-established prognostic role in patients with severe mitral regurgitation (MR) undergoing transcatheter edge-to-edge repair (TEER) and is typically assessed using echocardiography-measured tricuspid annular plane systolic excursion. Recently, a deep learning model has been proposed that accurately predicts RV ejection fraction (RVEF) from 2-dimensional echocardiographic videos, with similar diagnostic accuracy as 3-dimensional imaging. This study aimed to evaluate the prognostic value of the deep learning-predicted RVEF values in patients with severe MR undergoing TEER.

Capnographic monitoring using a novel mainstream system during endoscopic ultrasound and endoscopic retrograde cholangiopancreatography: A prospective randomized controlled trial.

Background/purpose: Insufficient studies exist on capnography efficacy during endoscopic ultrasound or endoscopic retrograde cholangiopancreatography, and no definitive conclusions have been drawn. To evaluate the feasibility and efficacy of a novel mainstream capnography using an over-the-biteblock end-tidal CO (EtCO) detector in decreasing the risk of hypoxemia during endoscopic ultrasound (EUS) and endoscopic retrograde cholangiopancreatography (ERCP).

Methods: Patients undergoing EUS or ERCP with conscious sedation at a single Japanese center were randomized to a control or a novel capnography monitored (intervention) group in a 1:1 ratio.

3D-printed devices for multiplexed semi-quantitative competitive lateral flow immunoassays.

Lateral flow immunoassays (LFIAs) are widely used for the simple and rapid detection of various targets at the point of need. However, LFIAs enabling the simultaneous detection of multiple analytes and the possibility for naked-eye semi-quantitative analysis are facing various challenges, including the requirement of large sample volumes, low efficiency, and accuracy. This is particularly the case for the competitive immunoassay format targeting the detection of low molecular weight compounds, such as, for example, drugs.

Effects of Intravenous Hydroxyzine Versus Haloperidol Monotherapy for Delirium: A Retrospective Study.

Although antipsychotics are used commonly for delirium, they increase the risk of mortality in elderly patients and those with dementia. As hydroxyzine has sedative and anxiolytic effects, it can be used in the treatment of delirium. We performed a retrospective study to compare the effects of intravenous hydroxyzine and haloperidol monotherapy on delirium.

Parental intentions and requests to provide pain care for their infants in neonatal intensive care units.

Purpose: The Japan Association of Neonatal Nursing evaluated the pain care provided by parents to their infants admitted to the neonatal intensive care unit (NICU). However, further collaborations with families based on family-centered care are necessary to clarify the parental intentions and requests regarding pain care for their infants. This study aimed to describe the experiences and content of nonpharmacological pain care provided by parents to their infants, the intentions and requests of parents regarding each type of recommended pain care (irrespective of whether they had provided pain care at the NICU), and the reasons for their hesitation to implement specific pain management methods.

Site-specific DNA demethylation during spermatogenesis presets the sites of nucleosome retention in mouse sperm.

DNA methylation patterns are inherited from the parental germline to the embryo. In mature sperm, the sites of unmethylated DNA are tightly coupled to sites of histone retention at gene regulatory elements that are implicated in paternal epigenetic inheritance. The timing and mechanism of site-specific DNA demethylation in the male germline currently remains unknown.

Subgenome-informed statistical modeling of transcriptomes in 25 common wheat accessions reveals cis- and trans- regulation architectures.

Common wheat is allohexaploid, where it is difficult to obtain homoeolog-distinguished transcriptome data. Lasy-Seq, a type of 3' RNA-seq, is a technology efficient at obtaining homoeolog-distinguished transcriptomes. Here we applied Lasy-Seq to obtain transcriptome data from the seedlings, second leaves, and root tips of 25 common wheat lines mainly from East Asia.

PI5P4K inhibitors: promising opportunities and challenges.

Phosphatidylinositol 5-phosphate 4-kinases (PI5P4K), also known as type II PIPKs or PIPKIIs, convert the lipid second messenger PI5P to PI(4,5)P. The PI5P4K family consists of three isozymes in mammals-PI5P4Kα, β, and γ-which notably utilize both GTP and ATP as phosphodonors. Unlike the other two isozymes, which can utilize both ATP and GTP, PI5P4Kβ exhibits a marked preference for GTP over ATP, acting as an intracellular GTP sensor that alters its kinase activity in response to physiological changes in GTP concentration.

[AUGMENTED ONLAY BUCCAL MUCOSAL GRAFT URETEROPLASTY FOR URETERAL STRICTURE: A CASE REPORT].

A 14-year-old boy developed hydronephrosis and worsening renal function due to fibroepithelial polyps of the bladder and left ureter at the age of 12 years. The endoscopic treatment of ureteral polyps was attempted by his previous doctor; however urethral stricture and ureteral stricture developed and was untreatable. Therefore, he was referred to our hospital for further reconstructive treatment.

Coronary Artery Calcification on Chest Computed Tomography as a Predictor of Cardiovascular Adverse Events in Patients With COVID-19 - A Multicenter Retrospective Study in Japan.

Background: Coronary artery calcification (CAC) detected through chest computed tomography (CT) strongly predicts cardiovascular events in asymptomatic individuals undergoing primary prevention. Few studies with limited sample sizes have investigated the predictive value of CAC for cardiovascular complications in COVID-19. This study examined the impact of CAC on cardiovascular complications using a large-scale COVID-19 database.

Long-term lung volume recruitment therapy maintains ventilator weaning in a patient with ALS following tracheostomy.

We report a case of amyotrophic lateral sclerosis (ALS) in a patient in their 50s, presenting with spastic paraparesis and bulbar palsy, treated with lung volume recruitment therapy (LVRT). From early stage in the disease, vital capacity (VC), lung insufflation capacity (LIC) and ALS Functional Rating Scale-Revised scores were regularly measured, and LVRT was continuously performed at home. After 10 years, the patient had complete limb function loss and required nutritional management via gastrostomy and full assistance with daily activities.

Up-front resection for hepatocellular carcinoma: Assessing futility in the preoperative setting.

Objective: We sought to develop a predictive model to preoperatively identify patients with hepatocellular carcinoma (HCC) at risk of undergoing futile upfront liver resection (LR).

Methods: Patients undergoing curative-intent LR for HCC were identified from a large multi-institutional database. Futile LR was defined by death or disease recurrence within six months postoperatively.

Association of clinical knowledge with patient care ownership among resident physicians: a nationwide cross-sectional study in Japan.

Purpose: Both clinical knowledge and patient care ownership (PCO) are crucial to the provision of quality patient care and should be acquired during training. However, the association between these two concepts is under-examined. Here, we conducted a nationwide cross-sectional study to investigate the association between clinical knowledge and PCO among resident physicians in Japan.

Propagation of neuronal micronuclei regulates microglial characteristics.

Microglia-resident immune cells in the central nervous system-undergo morphological and functional changes in response to signals from the local environment and mature into various homeostatic states. However, niche signals underlying microglial differentiation and maturation remain unknown. Here, we show that neuronal micronuclei (MN) transfer to microglia, which is followed by changing microglial characteristics during the postnatal period.

Association between salt intake and blood pressure among community-dwelling older adults based on their physical frailty status.

The effects of salt reduction and adequate nutrition intake among older adults with physical frailty remain controversial. Therefore, the present study investigated whether the association between daily salt intake and blood pressure among community-dwelling older adults, including the very old people, based on their physical frailty status. This cross-sectional study used data from the SONIC study, a cohort study on older adults, collected between 2010 and 2012.

-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations.

Introduction: Genotype-phenotype correlations in -related neurodevelopmental disorders (-NDDs) remain unclear. This systematic review aimed to clarify these correlations.

Methods: Searches of PubMed and Embase were conducted on 8 August 2024 to identify studies that had investigated genetically diagnosed NDDs (5q31.

Leucine-rich alpha-2 glycoprotein in combination with C-reactive protein for predicting endoscopic activity in Crohn's disease: a single-centre, cross-sectional study.

Background And Objective: Leucine-rich alpha-2 glycoprotein (LRG) is a novel biomarker for Crohn's disease (CD). The utility of combination use of LRG and C-reactive protein (CRP) has not been reported. This study aimed to investigate the diagnostic performance of LRG in combination with CRP to predict endoscopic activity.

Bifurcating Method for Subcutaneous Indwelling of Nonabsorbable Threads.

Subcutaneous indwelling of nonabsorbable threads for tissue fixation and tension reduction is often used in plastic surgery and is applied in breast reduction surgery, umbilicoplasty, and in frontalis muscle lifting for congenital ptosis. However, in a few cases, exposure of the indwelling thread necessitates its removal. Exposure of the indwelling threads mostly occurs due to exposure of the knots.