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.

Disentangling Sources of Momentum Fluctuations in Xe+Xe and Pb+Pb Collisions with the ATLAS Detector.

High-energy nuclear collisions create a quark-gluon plasma, whose initial condition and subsequent expansion vary from event to event, impacting the distribution of the eventwise average transverse momentum [P([p_{T}])]. Disentangling the contributions from fluctuations in the nuclear overlap size (geometrical component) and other sources at a fixed size (intrinsic component) remains a challenge. This problem is addressed by measuring the mean, variance, and skewness of P([p_{T}]) in ^{208}Pb+^{208}Pb and ^{129}Xe+^{129}Xe collisions at sqrt[s_{NN}]=5.

Effectiveness of tacrolimus therapy in refractory ulcerative colitis compared to infliximab with propensity score matching.

There is insufficient evidence comparing the outcomes of tacrolimus-based remission induction therapy with infliximab in refractory ulcerative colitis (UC) and evidence regarding optimal strategies after tacrolimus-based remission induction therapy. We conducted a multi-institutional retrospective study of patients with UC treated with tacrolimus or infliximab between January 2010 and March 2019. The proportion of clinical remission at week 8 and cumulative colectomy-free rate were examined using propensity score matching analysis.

A Rare Case of Early Left Ventricular Thrombus Development After Off-Pump Coronary Artery Bypass Grafting for Unstable Angina Pectoris With Reduced Left Ventricular Ejection Fraction.

Left ventricular (LV) thrombus is a serious complication of myocardial infarction (MI) that can lead to a fetal systemic embolism. Although coronary artery bypass graft surgery (CABG) after MI is widely performed, to our knowledge, there are no reports of LV thrombus in the early postoperative period. Here, we report a rare case of a 70-year-old man who underwent off-pump coronary artery bypass grafting (OPCAB) for unstable angina pectoris with reduced left ventricular ejection fraction (LVEF).

Hydrogen gas inhalation therapy may not work sufficiently to mitigate oxidative stress induced with REBOA.

Hemorrhagic shock is a significant cause of trauma-related mortality. Resuscitative endovascular balloon occlusion of the aorta (REBOA) is a less-invasive aortic occlusion maneuver for severe hemorrhagic shock but potentially inducing oxidative stress injuries. In an animal model, this study investigated hydrogen gas inhalation therapy's potential to mitigate post-REBOA ischemia-reperfusion injuries (IRIs).

Measuring the sensitivity of imaging plates to keV carbon ions.

Imaging plates (IPs) are valuable tools for measuring the intensity of ionizing radiation such as x-rays, electrons, and ions. In this work, we measured the sensitivity of IPs to carbon ions in the unexplored energy region of 0.7-10 keV.

The cytokinin efflux transporter ABCC4 participates in Arabidopsis root system development.

The directional and sequential flow of cytokinin in plants is organized by a complex network of transporters. Genes involved in several aspects of cytokinin transport have been characterized; however, much of the elaborate system remains elusive. In this study, we used a transient expression system in tobacco (Nicotiana benthamiana) leaves to screen Arabidopsis (Arabidopsis thaliana) transporter genes and isolated ATP-BINDING CASSETTE TRANSPORTER C4 (ABCC4).

Multimodal Treatment Approach for a Recurrent Hemorrhagic Scalp Arteriovenous Fistula: A Case Report.

Scalp arteriovenous fistula (AVF) is a rare vascular malformation that may present as a pulsatile scalp mass with complications like hemorrhage. We report a case of a large scalp AVF with recurrent bleeding, managed successfully with a multimodal approach. A 46-year-old man presented with a recurrently bleeding pulsatile scalp mass in the left temporal region, initially diagnosed as AVF following trauma.

Impact of the Individual Operator Experience and Learning Curve of a Novel Size Adjustable Cryoballoon.

Background: Cryoballoon ablation is less operator-dependent than radiofrequency ablation. Recently, size-adjustable cryoballoons (SA-CBs) have become available. We sought to analyze the individual baseline operator experience's impact on procedural results.

A Rare Surgical Case of Isolated Double-Chambered Right Ventricle Without Cardiac Malformations in an Older Female Patient.

Double-chambered right ventricle (DCRV) is a congenital heart disease. Most cases of DCRV are complicated by another congenital cardiac anomaly. Mostly, a ventricular septal defect (VSD) is the usual comorbidity.

Synthesis of Hollowed Polyoxometalate with a Flipped VO Unit by the Elimination of a Centered Organic Molecule.

Mechanistic understanding of the formation of clusters plays a role in designing the structure-dependent properties. Based on the fact that anions act as templates to form spherical polyoxovanadates, various structures were reported by changing anions in the synthetic solution. In this work, another factor in the formation of spherical polyoxometalates was demonstrated.

Prophylactic Clip Closure in Preventing Delayed Bleeding After Colorectal Endoscopic Submucosal Dissection on anticoagulants: A multicenter retrospective cohort study in Japan.

Background And Study Aims: Prophylactic clip closure after colorectal endoscopic submucosal dissection (ESD) among patients on anticoagulants is of uncertain effectiveness in reducing delayed bleeding (DB) risk. We aimed to assess the effect of prophylactic clip closure in preventing DB after colorectal ESD among patients on anticoagulants.

Patients And Methods: We used the ABCD-J study database, a large-scale multicenter study analyzing DB among 34,455 colorectal ESD cases from 47 Japanese institutions.

Corrigendum: Metabolic dysregulation and decreased capillarization in skeletal muscles of male adolescent offspring rats exposed to gestational intermittent hypoxia.

[This corrects the article DOI: 10.3389/fphys.2023.

Assessing differential personal information value with social discounting and hypothetical payment tasks with university students.

Different personal information types are shared at different rates during a social-discounting task. However, it is unclear whether differences in social-discounting rates between different personal information types are related to differences in valuing personal information. To assess the value of personal information more directly, 160 university student participants completed four hypothetical purchase tasks (HPT) for protecting identification, health, security, and financial personal information at 17 ascending price points and a social-discounting task for one of those four different personal information types.

Protocol for gene knockdown using siRNA in organotypic cultures of murine gastric muscle.

Understanding the molecular interactions within the neuromuscular apparatus in the stomach is crucial for understanding their role in maintaining interstitial cells, such as the interstitial cells of Cajal (ICC), smooth muscle, and enteric neurons, as well as their contribution to gastric motility in both healthy and diseased states. Disruptions of these systems can lead to various gastric motor disorders and diseases, making it essential to explore their functions in detail. We herein present a protocol for gene knockdown using small interfering RNA (siRNAs) in organotypic culture.

Role of trigeminal ganglion satellite glial cells in masseter muscle pain hypersensitivity.

Objectives: The underlying mechanism of masseter muscle pain hypersensitivity by sustained masseter muscle contraction (SMMC) is not well understood. This study aimed to examine whether the activation of satellite glial cells in the trigeminal ganglion (TG) contributes to masseter muscle pain hypersensitivity induced by SMMC.

Methods: Electrodes were placed on the masseter muscle fascia of rats to induce strong contractions, by daily electrical stimulation.

Intestinal butyric acid-mediated disruption of gut hormone secretion and lipid metabolism in vasopressin receptor-deficient mice.

Objectives: Arginine vasopressin (AVP), known as an antidiuretic hormone, is also crucial in metabolic homeostasis. Although AVP receptor-deficient mice exhibit various abnormalities in glucose and lipid metabolism, the mechanism underlying these symptoms remains unclear. This study aimed to explore the involvement of the gut hormones including glucagon-like peptide-1 (GLP-1) and microbiota as essential mediators.

A novel automated chemiluminescent enzyme immunoassay for ADAMTS-13 activity enables accompanying measurements of the inhibitory autoantibodies.

Background: Thrombotic thrombocytopenic purpura (TTP) is a fatal disease caused by severe deficiency in ADAMTS-13 (a disintegrin and metalloproteinase with thrombospondin type 1 motifs 13) activity. ADAMTS-13 activity measurement is essential for the diagnosis of TTP, but conventional standard assays are manual and time-consuming. Automated ADAMTS-13 activity assays have recently become available; however, their accuracy remains challenging.

Backbone resonance assignments of the C-terminal thioesterase domain of tyrocidine synthetase C.

Natural macrocyclic peptides produced by microorganisms serve as valuable resources for therapeutic compounds, including antibiotics, anticancer agents, and immune suppressive agents. Nonribosomal peptide synthetases (NRPSs) are responsible for the biosynthesis of macrocyclic peptides. NRPSs are large multimodular enzymes, and each module recognizes and incorporates one specific amino acid into the polypeptide product.

Refractory phenotype of -sensitized asthma with bronchiectasis and allergic bronchopulmonary aspergillosis.

Background: Sensitization to mucus plugs, and bacterial colonization may coexist and relate to a refractory phenotype during follow-up in asthma with bronchiectasis and allergic bronchopulmonary aspergillosis (ABPA).

Objective: This study aimed to clarify the features of -sensitized refractory asthma with bronchiectasis and determine the refractory phenotype in this population and ABPA.

Methods: This study included cases of the oldest available -specific IgE data and chest computed tomography images from a nationwide survey of refractory asthma with bronchiectasis.

Revised method for preparation of simulated body fluid for assessment of the apatite-forming ability of bioactive materials: proposal of mixing two stock solutions.

Bioactive glasses and glass-ceramics exhibit osteoconductivity, which is the ability to form a direct bond with living bone tissue. This property is typically assessed by observing the formation of a hydroxyapatite layer using simulated body fluid (SBF), a solution designed to mimic the inorganic constituents of human blood plasma. SBF was developed by Kokubo (T.

Synthesis of Consecutive All-Carbon Quaternary Centers via Three-Step Reactions.

Consecutive all-carbon quaternary centers were synthesized in three steps from the corresponding ketones. The three reactions were (1) Knoevenagel condensation of ketone and malononitrile to afford dicyanoalkene, (2) 1,4-addition reaction of a Grignard reagent to dicyanoalkene, and (3) oxidative transformation of a malononitrile moiety to an ester, thioester, amide, and α-nitroketone. This method was applied to the synthesis of 17α-methyl steroids with a good yield and excellent diastereoselectivity.

Classifying Chronic Kidney Disease Stages Based on Predicted Value of Estimated Glomerular Filtration Rate From Serum Creatinine Levels Using Chronic Kidney Disease Risk Factors and Renal Sinus Anteroposterior Diameter on a Computed Tomography Image.

Objective:  This study aimed to investigate whether the calculated predicted value of the estimated glomerular filtration rate from serum creatinine levels (eGFRcreat-PV) from multiple regression equations using the anteroposterior diameter of the renal sinus (APDRS) measured on multidetector row computed tomography (MDCT) axial images and easily obtainable chronic kidney disease (CKD) risk factors (age and body mass index, BMI) is useful for separating CKD stages.

Material And Methods:  The Review Board approved this study, and the additional approval requirement was waived for this retrospective study. We investigated the association between eGFRcreat and age, BMI, and APDRS using stepwise multivariate regression analysis in 98 patients who underwent MDCT and calculated eGFRcreat-PV from the obtained multiple regression equation.