Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.

Background: X-linked myotubular myopathy (XLMTM) is a form of the severest congenital muscle diseases characterized by marked muscle weakness, hypotonia, and feeding and breathing difficulties in male infants. It is caused by mutations in the myotubularin gene (MTM1).

Methods: Evaluation of clinical history and examination of muscle pathology of three patients and comprehensive genome analysis on our original targeted gene panel system for muscular diseases.

The big warm smile of cheaters: lateral posing biases and emotional expressions in displaying facial trustworthiness.

Cheater detection, which is a prerequisite for the evolution of social cooperation, has been successfully simulated in laboratory settings. However, the process has not been perfect because the detection rate has usually been just above chance. The present study investigated the role of lateral posing biases and emotional expressions in displaying trustworthiness, which plays a crucial role in cheater detection.

An Information-Theoretic Approach to Quantitative Analysis of the Correspondence Between Skin Blood Flow and Functional Near-Infrared Spectroscopy Measurement in Prefrontal Cortex Activity.

Effect of Skin blood flow (SBF) on functional near-infrared spectroscopy (fNIRS) measurement of cortical activity proves to be an illusive subject matter with divided stances in the neuroscientific literature on its extent. Whereas, some reports on its non-significant influence on fNIRS time series of cortical activity, others consider its impact misleading, even detrimental, in analysis of the brain activity as measured by fNIRS. This situation is further escalated by the fact that almost all analytical studies are based on comparison with functional Magnetic Resonance Imaging (fMRI).

Pre-hospital advanced airway management for adults with out-of-hospital cardiac arrest: nationwide cohort study.

Objective: To determine survival associated with advanced airway management (AAM) compared with no AAM for adults with out-of-hospital cardiac arrest.

Design: Cohort study between January 2014 and December 2016.

Setting: Nationwide, population based registry in Japan (All-Japan Utstein Registry).

Angiogram based fractional flow reserve in patients with dual/triple vessel coronary artery disease.

Objective: To assess the performance of angiography derived Fractional Flow Reserve (FFRangio) in multivessel disease (MVD) patients undergoing angiography.

Background: FFR is the reference standard for physiologic assessment of coronary stenosis and guidance of revascularization, especially in patients with MVD, yet it remains grossly underutilized. The non-wire based FFRangio performs well in non-MVD patients, but its accuracy in MVD is unknown.

Post-occlusional hyperemia for fractional flow reserve assessment and pull-back curve analysis.

Balloon occlusion is a potential method for inducing hyperemia to measure post-percutaneous coronary intervention (PCI) fractional flow reserve (FFR). The objective of this study was to determine the clinical usefulness of post-occlusional hyperemia. FFRs measured using post-occlusional hyperemia caused by 30 (FFR) and 60 s (FFR) of balloon occlusion after PCI were compared in 60 lesions from 60 patients.

Negative dielectric constant of water confined in nanosheets.

Electric double-layer capacitors are efficient energy storage devices that have the potential to account for uneven power demand in sustainable energy systems. Earlier attempts to improve an unsatisfactory capacitance of electric double-layer capacitors have focused on meso- or nanostructuring to increase the accessible surface area and minimize the distance between the adsorbed ions and the electrode. However, the dielectric constant of the electrolyte solvent embedded between adsorbed ions and the electrode surface, which also governs the capacitance, has not been previously exploited to manipulate the capacitance.

Verification of the reliability of current perception threshold and pain threshold testing by application of an electrical current stimulus to mandibular mucosa in young adults.

Background: There is little evidence regarding the reliability of CPT and PT measurements to gauge mandibular perception. Thus, this study aimed to evaluate the test-retest reliability of CPT and PT values obtained from the mandibular oral mucosa and to test the bilateral differences in CPT and PT values obtained from the mental foramen region and buccal shelf region by a single operator.

Methods: CPT and PT values were obtained from the mental foramen and buccal shelf regions of 20 volunteers (10 males and 10 females; average age: 26.

Receptivity of the mandible versus the maxilla to external stimuli in patients with complete dentures.

Purpose: This study aimed to investigate whether the mandible is more receptive to external stimuli than the maxilla in patients with complete dentures by comparing regional current perception thresholds (CPTs) and pain threshold (PTs).

Methods: A single operator obtained measurements from maxillae at the incisor foramen and the left side of the greater palatine foramen region and the mandible at the left side of the mental foramen region, using the Neurometer CPT/C device, CPT and PT values from the oral mucosa of 20 edentulous individuals wearing complete dentures were analyzed. Participant characteristics such as mucosal thickness, occlusal force, age, and sex.

Feasibility and safety of jailed-pressure wire technique using durable optical fiber pressure wire for intervention of coronary bifurcation lesions.

Objectives: The objective was to evaluate the safety, feasibility, and accuracy of the jailed-pressure wire technique using a durable optical fiber-based pressure wire with high-pressure dilatation using a non-compliant balloon after main vessel stenting.

Background: Fractional flow reserve (FFR) information can help interventionists determine whether they should treat a jailed-side branch (SB). However, re-crossing a pressure wire into a jailed-SB is sometimes technically difficult.

Combined Theoretical and Experimental Studies of Sodium Battery Materials.

Owing to developments in theoretical chemistry and computer power, the combination of calculations and experiments is now standard practice in understanding and developing new materials for battery systems. Here, we briefly review our recent combined studies based on density functional theory and molecular dynamics calculations for electrode and electrolyte materials for sodium-ion batteries. These findings represent case studies of successful combinations of experimental and theoretical methods.

Apnea Hypopnea Index During Rapid Eye Movement Sleep With Diabetic Retinopathy in Patients With Type 2 Diabetes.

Context: Recent studies based on home sleep apnea testing (HSAT) reported the potential association of sleep disordered breathing, such as obstructive sleep apnea (OSA), with diabetic retinopathy (DR). A few studies showed that the apnea-hypopnea index (AHI) during rapid eye movement (REM) sleep (REM-AHI) is associated with glycated hemoglobin and hypertension, two known risk factors for DR. However, there are no studies that have evaluated the association of REM-AHI with DR because previous studies were based on HSAT.

Sex Differences in Receiving Layperson Cardiopulmonary Resuscitation in Pediatric Out-of-Hospital Cardiac Arrest: A Nationwide Cohort Study in Japan.

Background Layperson cardiopulmonary resuscitation ( CPR ) is a crucial intervention for patients with out-of-hospital cardiac arrest ( OHCA ). Although a sex disparity in receiving layperson CPR (ie, female patients were less likely to receive layperson CPR ) has been reported in adults, there are few data in the pediatric population, and we therefore investigated sex differences in receiving layperson CPR in pediatric patients with OHCA . Methods and Results From the All-Japan Utstein Registry, a prospective, nationwide, population-based OHCA database, we included pediatric patients (≤17 years) with layperson-witnessed OHCA from 2005 through 2015.

Impact of sodium glucose cotransporter 2 inhibitor on histological features and glucose metabolism of non-alcoholic fatty liver disease complicated by diabetes mellitus.

Aim: The aim of this study was to investigate the therapeutic potential of sodium glucose cotransporter 2 inhibitor (SGLT2I) as an effective therapeutic option for non-alcoholic fatty liver disease (NAFLD).

Methods: In this prospective study, nine patients with NAFLD complicated by type 2 diabetes mellitus (DM), were introduced to the regimen of canagliflozin 100 mg once daily for 24 weeks and were evaluated by liver histology at pretreatment and at 24 weeks after the start of treatment. The primary outcome was histological improvement, defined as a decrease in NAFLD activity score of one point or more without worsening in fibrosis stage.

Molecular subtyping of gastric cancer combining genetic and epigenetic anomalies provides distinct clinicopathological features and prognostic impacts.

Both genetic and epigenetic abnormalities play important roles in gastric cancer (GC) development. We investigated whether the molecular subtypes of gastric cancer by combining genetic and epigenetic anomalies define its clinicopathological features and prognosis. The CpG island methylator phenotype (CIMP), MLH1 methylation, TP53, and KRAS mutation statuses were characterized in 214 GCs in relation to their clinicopathological features and prognosis.

Data on chemical compositions and fermentation quality of silages made from low-market-value vegetables supplemented with potato protein concentrate, a byproduct of starch production.

This data article reports the chemical compositions (protein, fat, fiber, ash, lactic acid, acetic acid, propionic acid, butyric acid and valeric acid) and fermentation quality, represented by V-value determined from the proportion of ammonia nitrogen in total nitrogen and volatile fatty acid contents, in silages prepared from low-market-value vegetables (carrot roots, cabbage leaves, and radish leaves). Potato protein concentrate, a byproduct of starch production from potato tuber, was used to supplement the protein contents in the silages. The first type of silage was produced by fermentation of a mixture of wheat bran and either carrot, cabbage, or radish without supplemental potato protein.

Marked thrombocytopenia in a neonate is associated with anti-HPA-5b, anti-HLA-A31, and anti-HLA-B55 antibodies.

Maternal antibodies against human platelet antigen (HPA) and/or human leukocyte antigen (HLA) cause fetal and neonatal alloimmune thrombocytopenia (FNAIT) in 0.09-0.15% of live births.

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.

Purpose: The diagnostic rate for Mendelian diseases by exome sequencing (ES) is typically 20-40%. The low rate is partly because ES misses deep-intronic or synonymous variants leading to aberrant splicing. In this study, we aimed to apply RNA sequencing (RNA-seq) to efficiently detect the aberrant splicings and their related variants.

Closed reduction of a posterior sternoclavicular joint dislocation: A case report.

Sternoclavicular joint dislocation (SCJD) is a rare injury; there are only two reported cases of SCJD that have occurred during judo practice. We present a case of an 18-year-old male athlete who fell while practicing judo and experienced upper left chest pain. He was diagnosed with posterior SCJD at another institute before being transferred to our hospital.

Age-related differences in the activation of the mentalizing- and reward-related brain regions during the learning of others' true trustworthiness.

Behavioral studies suggest that older adults may be less adept than younger adults at remembering information contradicting their first impressions about others' trustworthiness. To identify the neural bases associated with such age-related differences, we measured the brain activity of older and younger participants using functional magnetic resonance imaging while they processed feedback on whether their initial trustworthiness impressions of stimulus persons, whose true trustworthiness had been predetermined, were right or wrong. Of special interest was the activation in mentalizing- (e.

Variation in Survival After Out-of-Hospital Cardiac Arrest Between Emergency Medical Services Agencies.

Importance: Emergency medical services (EMS) deliver essential initial care for patients with out-of-hospital cardiac arrest (OHCA), but the extent to which patient outcomes vary between different EMS agencies is not fully understood.

Objective: To quantify variation in patient outcomes after OHCA across EMS agencies.

Design, Setting, And Participants: This observational cohort study was conducted in the Resuscitation Outcomes Consortium (ROC) Epistry, a prospective multicenter OHCA registry at 10 sites in North America.

Characteristic findings of skeletal muscle MRI in caveolinopathies.

Caveolinopathies, caused by CAV3 mutations, can include several phenotypes such as rippling muscle disease, limb-girdle muscular dystrophy type 1C, distal myopathy, familial hypertrophic cardiomyopathy, and idiopathic hyperCKemia. Here we present characteristic skeletal muscle imaging findings in four patients with genetically defined childhood-onset RMD caused by CAV3 mutations and in one patient with congenital generalized lipodystrophy type 4 with muscular dystrophy due to polymerase I and transcript release factor (PTRF) mutations, which may have caused secondary deficiency of caveolin-3. Muscle MRI revealed that the rectus femoris and semitendinosus muscles were most commonly affected in the rippling muscle disease patients.