Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Short-read genome sequencing (GS) is a powerful technique for investigating the genetic etiologies of rare diseases, capturing diverse genetic variations that are challenging to approach with exome sequencing (ES). We performed GS on 260 families with intellectual disability/developmental delay. GS detected potentially disease-related variants in 55 of the 260 families, with structural resolution by long-read sequencing or optical genome mapping, and functional assessment by RNA sequencing.

Self-assembly and thermal conductivity of amphiphilic Janus nanoparticles under nanoslit confinement.

The interplay between nanoparticle (NP) interaction anisotropy and nanoscale confinement gives rise to diverse self-assembly behaviors and the resulting macroscopic thermal properties. In this study, we use molecular dynamics (MD) simulations to explore the relationship between the structural and thermal properties of nanofluids confined in nanoscale channels. The chemical surface design of NPs alters the dependence of thermal conductivity on channel width: homogeneous hydrophilic (HI) NPs maintain thermal conductivity by forming a stable adsorption layer around dispersed NPs, whereas diblock Janus NPs exhibit clustering effects due to interaction anisotropy.

Self-Assembly and Tribological Behavior of Polymer-Grafted Nanoparticles Confined between Polymer-Brushed Walls.

Polymer-grafted nanoparticles (PGNPs) confined between polymer-brushed walls represent a promising polymer-nanoparticle (NP) hybrid system for achieving friction control and mechanical stability under nanoscale confinement. However, previous studies largely neglected the cooperative assembly and dynamics that emerge from multiparticle interactions under shear, particularly within confined brush-PGNP systems. In this study, we employ dissipative particle dynamics simulations to systematically investigate the self-assembly and tribological response of PGNPs under confinement, focusing on the effects of solvent quality and grafting density.

Developmental process of the understanding of linguistic register in children: A comparison of typically developing children, autistic children, and children with Williams syndrome.

Although the developmental process of linguistic register-the appropriate manner of speech as determined by the listener and social situation-has been gradually clarified in typically developing (TD) children, research on the mechanism and developmental process of register acquisition in atypically developing children are insufficient. This study compared the developmental process of understanding linguistic register among TD children, autistic children, and those with Williams syndrome (WS), and examined the contributions of social cognition and motivation to the acquisition of linguistic register. Two experiments were designed to assess the recognition of which linguistic register to use when communicating with different listeners and of the listener's feelings according to the speakers' use of register.

Structure and dynamics of amphiphilic patchy cubes in a nanoslit under shear.

Patchy nanocubes are intriguing materials with simple shapes and space-filling and multidirectional bonding properties. Previous studies have revealed various mesoscopic structures such as colloidal crystals in the solid regime and rod-like or fractal-like aggregates in the liquid regime of the phase diagram. Recent studies have also shown that mesoscopic structural properties, such as an average cluster size M and orientational order, in amphiphilic nanocube suspensions are associated with macroscopic viscosity changes, mainly owing to differences in cluster shape among patch arrangements.

Primary Malignant Melanoma of the Esophagus Treated with Surgical Resection at an Early Stage.

Introduction: Primary malignant melanoma of the esophagus is a very rare disease with a poor prognosis. We herein report a patient with primary malignant melanoma of the esophagus who underwent surgical resection.

Case Presentation: A 73-year-old female underwent an upper gastrointestinal endoscopy during follow-up for colonic diverticulitis.

Comparison of the Sensory Profile Among Autistic Individuals and Individuals with Williams Syndrome.

Purpose: With the current study, we aimed to reveal the similarities and differences in sensory profiles between Williams syndrome (WS) and autism spectrum disorder.

Methods: Using the sensory profile questionnaire completed by the caregivers, we analyzed the WS (n = 60, 3.4-19.

Development of emotion comprehension in children with autism spectrum disorder and Williams syndrome.

Although research has shed light on the development of emotion comprehension in typically developing children, little is known about emotion comprehension in children who are developing atypically. Thus, this study examined the developmental trajectory of emotion understanding in non-clinical (NC) children and children with autism spectrum disorder (ASD) and Williams syndrome (WS) using a Test of Emotion Comprehension. In the test, we measured children's understanding of (I) recognition of emotions based on facial expressions, (II) external causes of emotions, (III) desire-based emotions, (IV) belief-based emotions, (V) the influence of a reminder on a present emotional state, (VI) regulating an experienced emotion, (VII) hiding an emotional state, (VIII) mixed emotions, and (IX) moral emotions.

Investigation of the efficacy and adverse effects of lacosamide over 36 months.

Objective: To evaluate the efficacy and retention rate of lacosamide (LCM) over 36 months as a treatment for children and adolescents with focal and generalized epilepsy based on a retrospective study.

Methods: All patients prescribed LCM as monotherapy and add-on therapy between October 2016 and September 2019 at Jichi Children's Medical Center Tochigi were included in the study. The response rate, retention rate, and adverse effects were calculated.

Adrenocortical carcinoma mimicking hepatocellular carcinoma: A case report.

Introduction And Importance: Adrenocortical carcinoma (ACC) is a relatively rare tumor arising in the adrenal cortex. Its imaging and histopathologic findings are not well known to be similar to those of hepatocellular carcinoma (HCC). We report here a case of ACC with hepatic resection in the preoperative diagnosis of HCC.

Stress exacerbates pancreatic cancer both directly and indirectly by creating an immunosuppressive environment.

Background/purpose: Sympathetic nerve stimulation by stress exacerbates various solid tumors, including pancreatic cancer (PCa). The relationship between cancer and immunity has been suggested; however, there is limited information about the effects of nerve stimulation on immunity and cancer. We aimed to investigate the involvement of sympathetic nerve stimulation in immune cells and its effects on PCa using a restraint stress mouse model.

A case of transanal barotrauma by high-pressure compressed air leading to transverse colon perforation with extensive colon serosal tear.

Introduction And Importance: Compressed air is used to apply paint, wash vehicles or machines, and remove water droplets after washing the precision instrument. Barotrauma due to high-pressure compressed air is extremely rare.

Case Presentation: We report a case of transverse colon perforation caused by a compressed air gun in a 20-year-old male.

Comparison of the Social Responsiveness Scale-2 among Individuals with Autism Spectrum Disorder and Williams Syndrome in Japan.

This study examined the similarities/differences between the social phenotypes of Williams syndrome (WS) and autism spectrum disorder (ASD). As cultural norms may affect symptom evaluation, this study administered the Social Responsiveness Scale-2 to Japanese individuals with WS (n = 78, 4.4-44.

The ATRX splicing variant c.21-1G>A is asymptomatic.

The ATRX variant c.21-1G>A was detected by an exome analysis of a patient with Cockayne syndrome without alpha thalassemia X-linked intellectual disability syndrome (ATR-XS). In addition, variants in ERCC6 were detected.

Ni-modified β-FeOOH nanorod cocatalysts for oxygen evolution utilising photoexcited holes on a N 2p level in a N-doped TiO electrode.

Traditionally, N-doped TiO (N-TiO) has been regarded as unsuitable for the oxygen evolution reaction (OER) under visible light. Ni-modified β-FeOOH nanorod cocatalysts enabled to use N 2p holes in the N-TiO photoanode induced by 400-500 nm visible light photons for the OER, enhancing anodic photocurrent of N-TiO with 13-fold with 100% faradaic efficiency.

An Adolescent Patient with Sick Sinus Syndrome Complicated by Hypothyroidism Carrying an SCN5A Variant.

Previous studies have reported that hypothyroidism can lead to sick sinus syndrome (SSS) or other rhythm disturbances. Variants in the alpha subunit of the cardiac sodium channel (SCN5A) are known to be among the genetic causes of SSS. We encountered an adolescent patient with SSS and hypothyroidism who also harbored an SCN5A variant.

Developmental changes of the neural mechanisms underlying level 2 visual perspective-taking: A functional near-infrared spectroscopy study.

The ability to understand the way other people see the world differs from one's own viewpoint is referred to as ''visual perspective-taking'' (VPT). Previous studies have demonstrated the behavioral performance in level 2 VPT (VPT2), the ability to understand that two different observers can have unique visual experiences of the same scene or object depending on the observers' physical location, changes during childhood. However, the developmental aspects underlying the neural mechanisms of VPT2 remains unknown.

Genistein regulates adipogenesis by blocking the function of adenine nucleotide translocase-2 in the mitochondria.

Genistein exerts antiadipogenic effects, but its target molecules remain unclear. Here, we delineated the molecular mechanism underlying the antiadipogenic effect of genistein. A pulldown assay using genistein-immobilized beads identified adenine nucleotide translocase-2 as a genistein-binding protein in adipocytes.

Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency.

Aromatic l-amino acid decarboxylase (AADC) is an essential dopamine-synthesizing enzyme. In children with AADC deficiency, the gene delivery of AADC into the putamen, which functionally interacts with cortical regions, was found to improve motor function and ameliorate dystonia. However, how the restoration of dopamine in the putamen in association with cortico-putaminal networks leads to therapeutic effects remains unclear.

Greater reliance on proprioceptive information during a reaching task with perspective manipulation among children with autism spectrum disorders.

Difficulties with visual perspective-taking among individuals with autism spectrum disorders remain poorly understood. Many studies have presumed that first-person visual input can be mentally transformed to a third-person perspective during visual perspective-taking tasks; however, existing research has not fully revealed the computational strategy used by those with autism spectrum disorders for taking another person's perspective. In this study, we designed a novel approach to test a strategy using the opposite-directional effect among children with autism spectrum disorders.

Gallbladder cancer with ascites in a child with metachromatic leukodystrophy.

Introduction: Metachromatic leukodystrophy (MLD) refers to leukodystrophy caused by the accumulation of sulfatide from arylsulfatase A (ARSA) gene mutations. Sulfatide also accumulates in various organs, including the peripheral nerves, kidney, and gallbladder. Proliferative changes in the gallbladder have been reported in several patients, while gallbladder cancer is reported in only two adult MLD cases.