Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.

Background: Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively rare in Japan. This study aims to profile the genetic variants that cause SGPs in Japanese patients.

Accuracy of cephalometric landmark and cephalometric analysis from lateral facial photograph by using CNN-based algorithm.

Cephalometric analysis is the primary diagnosis method in orthodontics. In our previous study, the algorithm was developed to estimate cephalometric landmarks from lateral facial photographs of patients with normal occlusion. This study evaluates the estimation accuracy by the algorithm trained on a dataset of 2320 patients with added malocclusion patients and the analysis values.

Platelets accelerate lipid peroxidation and induce pathogenic neutrophil extracellular trap release.

Neutrophil extracellular traps (NETs), an important host defense mechanism, are assembled after the release of decondensed chromatin and other nuclear components by a process termed NETosis. However, excessive NET release destroys surrounding tissues, leading to conditions such as sepsis where platelets are implicated in the pathogenic switch of NETosis. Here, we show that platelets trigger iron accumulation and promote lipid peroxide production in neutrophils co-stimulated with lipopolysaccharide and platelets in vitro, resulting in the induction of NETosis.

Adaption of a trigger tool to identify harmful incidents, no harm incidents, and near misses in prehospital emergency care of children.

Background: The emergency medical service (EMS) addresses all chief complaints across all ages in various contexts. Children in EMS present a particular challenge due to their unique anatomical and physical properties, which require specific training that EMS clinicians often report lacking. This combination exposes children to incidents threatening patient safety.

Total Minimally Invasive Curative Staged Resections After Induction Systemic Therapy for Metastatic Rectal Cancer.

Background: Intensified systemic chemotherapy following minimally invasive surgery for patients with unresectable metastatic colorectal cancer is performed to achieve curative resection and improve quality of life. We report a case of initially unresectable rectal cancer with metastases treated with laparoscopic and thoracoscopic staged resections after triplet chemotherapy plus bevacizumab.

Case: A 71-year-old man was referred to our hospital to examine the cause of constipation.

A time-saving one-step polyacrylamide gel with a colored stacking gel for SDS-PAGE and western blotting.

A time-saving, one-step polyacrylamide gel preparation method enabling simultaneous preparation of separating and stacking gels was previously reported, but the boundary between the separating and stacking gels was often not well defined. As such, determining whether the gel preparation failed is difficult before SDS-PAGE is carried out. To address this issue, a one-step polyacrylamide gel preparation method was developed in which the stacking gel is colored to allow better visualization of the border between the stacking and separating gels.

Preliminary Reliability and Validity of the Self-Determination Inventory: Student Report French Translation.

There is a strong and growing focus on self-determination in French-speaking countries, and this pilot study reports the technical adequacy of the Self-Determination Inventory: Student Report (SDI:SR) French Translation. Data were collected with 471 French-speaking youth with and without disabilities in Canada (Quebec), Switzerland, France, and Belgium. Key findings showed it was feasible to use 20 (of 21) items to represent the self-determination construct in the French-speaking sample.

Self-Advocate and Family Member Experiences With Supported Decision Making.

Supported decision making (SDM) is a needed focus of policy and practice to enhance opportunities for people with disabilities to exercise self-determination as they are supported to make decisions about their life. This study used content analysis to analyze five focus groups comprised of 27 adults with intellectual and developmental disabilities (IDD) and 16 family members to understand how people with IDD use supports for decision making and how families support decision making. People with IDD and family members described a range of strategies and supports they used for decision making, including engaging trusted supporters, accessing technology, and using early experiences to build decision-making skills.

Added predictive value of prehospital measurement of point-of-care lactate in an adult general EMS population in Sweden: a multi-centre observational study.

Background: Emergency medical services (EMS) personnel must rapidly assess and transport patients with time-sensitive conditions to optimise patient outcomes. Serum lactate, a valuable in-hospital biomarker, has become more accessible in EMS settings through point-of-care (POC) testing. Although POC lactate levels are valuable in specific patient groups, its broader application in EMS remains unclear.

Topiroxostat improves glomerulosclerosis in type 2 diabetic Nagoya Shibata Yasuda mice with early diabetic kidney disease.

Reactive oxygen species production might be prevented by xanthine oxidoreductase (XOR) inhibitors, which can cause glomerulosclerosis. We aimed to investigate whether topiroxostat, an XOR inhibitor, prevents diabetic kidney disease development in mice. Six-week-old control Institute of Cancer Research (ICR) mice and type 2 diabetic Nagoya Shibata Yasuda (NSY) mice were divided into the ICR group (ICR mice which received a lard-containing high-fat diet [HFD] based on the AIN-93G diet), NSY control group (NSY mice which received the same aforementioned diet), and NSY + topiroxostat group (NSY mice which received the same aforementioned diet with addition of 0.

Retrospective Database Analysis of Liver-Related Clinical Events in Adult and Pediatric Patients with Alpha-1 Antitrypsin Deficiency in the United States.

Background And Aims: Real-world analyses on burden of illness in patients with alpha-1 antitrypsin deficiency (AATD) are limited. We investigated the real-world burden of liver-related clinical events among adult and pediatric patients with AATD in the USA.

Methods: This was a retrospective, observational analysis of administrative claims data from the IQVIA PharMetrics Plus and Ambulatory Electronic Medical Records databases from 2011 to 2022.

Prognostic significance of immunotherapy in postoperative recurrent non-small cell lung cancer without EGFR mutations or ALK rearrangements.

Background: Limited reports exist regarding postoperative recurrent non-small cell lung cancer (NSCLC) without major driver mutations [epidermal growth factor receptor (EGFR) mutations or anaplastic lymphoma kinase (ALK) rearrangements] treated with immune checkpoint inhibitors (ICIs) when programmed cell death ligand 1 (PD-L1) is expressed in a real-world setting. The aim of this study was to evaluate the effect of ICIs for those NSCLC.

Methods: We enrolled 255 patients with postoperative recurrent NSCLC lacking EGFR mutations or ALK rearrangements who underwent lobectomy or more extensive resection between 2012 and 2021.

Robot-Assisted Partial Cystectomy Using the "Double Bipolar Method".

The "double bipolar method" (DBM) in robotic surgery has been widely used in Japanese general surgery and gynecology; however, it is not commonly used in the field of urology. A 55-year-old female was diagnosed with stage IA endometrial cancer. A 2-cm cystic lesion was incidentally observed at the dome of the bladder on magnetic resonance imaging.

Choroidal Metastasis From Papillary Renal Cell Carcinomas: A Case Report and a Review of the Literature.

Choroidal metastasis originating from renal cell carcinomas (RCCs) is rare. To the best of our knowledge, 31 cases of choroidal metastasis from RCC have been reported in the English literature as of January 31, 2024. Nevertheless, physicians need to be vigilant in recognizing this condition, as its progression impacts the quality of life (QOL) of affected patients.

Unconventional Polarization Response in Titanite-Type Oxides due to Hashed Antiferroelectric Domains.

Domains in a crystal, which have crystallographic uniformity and are geometrically segmented, typically arise from various phase transitions. The physical properties within individual domains are inherently the same as those in the homogeneous bulk. As a result, sufficiently large domains have little influence on the bulk properties.

Current knowledge on leptospirosis in cats: A systematic review with metanalysis on direct detection, serological response, and clinical data.

Leptospirosis is a neglected bacterial zoonosis that affects a wide range of mammals, with important implications from a One Health perspective. Over the past years feline leptospirosis has gained increased attention in the scientific community. Here we describe a systematic review with meta-analysis that followed the PRISMA guidelines, with an additional PROSPERO registration.

Healthcare resource utilization and costs among patients with alpha-1 antitrypsin deficiency with liver and/or lung disease: a longitudinal retrospective study in the USA.

To evaluate all-cause and liver-associated healthcare resource utilization (HCRU) and costs among patients with alpha-1 antitrypsin deficiency (AATD) with liver disease (LD) and/or lung disease (LgD). This was a retrospective analysis of linked administrative claims data from the IQVIA PharMetrics Plus and the IQVIA Ambulatory Electronic Medical Records (AEMR) databases from 1 July 2021 to 31 January 2022. Patients with AATD in the IQVIA PharMetrics Plus database were included with ≥1 inpatient or ≥2 outpatient medical claims ≥90 days apart with a diagnosis of AATD, or with records indicating a protease inhibitor (Pi)*ZZ/Pi*MZ genotype in the IQVIA AEMR database with linkage to IQVIA PharMetrics Plus.

Development of a trigger tool to identify harmful incidents, no harm incidents, and near misses in prehospital emergency care.

Background: Emergency Medical Services (EMS) are a unique setting because care for the chief complaint is given across all ages in a complex and high-risk environment that may pose a threat to patient safety. Traditionally, a reporting system is commonly used to raise awareness of adverse events (AEs); however, it could fail to detect an AE. Several methods are needed to evaluate patient safety in EMS.

Screening of factors inducing alveolar type 1 epithelial cells using human pluripotent stem cells.

Alveolar type 2 (AT2) epithelial cells are tissue stem cells capable of differentiating into alveolar type 1 (AT1) cells for injury repair and maintenance of lung homeostasis. However, the factors involved in human AT2-to-AT1 cell differentiation are not fully understood. Here, we established SFTPC and AGER dual-reporter induced pluripotent stem cells (iPSCs), which detected AT2-to-AT1 cell differentiation with high sensitivity and identified factors inducing AT1 cell differentiation from AT2 and their progenitor cells.

Photoemission Orbital Tomography Using a Robust Sparse PhaseLift.

Photoemission orbital tomography (POT) from photoelectron momentum maps (PMMs) is a powerful technique that visualizes the shape of the molecular orbitals (MOs) of molecular films. For further utilization of POT, a simple and low-cost method of POT is highly required. Here, we propose a new POT method based on the PhaseLift algorithm (PhaseLift POT).