Optical genome mapping reveals maternal mosaicism in two Sibling cases of Early-Onset Facioscapulohumeral muscular dystrophy type 1.

Background: Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant condition caused by shortened D4Z4 repeat units in the subtelomeric region of 4q35, always on the 4qA haplotype, or due to variants in the SMCHD1 gene leading to hypomethylation of the D4Z4 macrosatellite DNA repeats.

Methods: To explore the potential genetic basis for suspected FSHD presenting with early onset in two siblings without evident family history of the disorder, whole genome sequencing (WGS) and optical genome mapping (OGM) were conducted on the affected individuals and their parents.

Results: The two siblings manifested severe and early-onset clinical features consistent with FSHD, initiating with facial muscle weakness that progressively spread downward since the age of four months.

Regorafenib combined with immune checkpoint inhibitors versus regorafenib monotherapy as a late-line treatment for metastatic colorectal cancer: a single-center, retrospective cohort study.

Background: Few data are available on metastatic colorectal cancer (mCRC) treated with late-line regorafenib monotherapy or combined with other therapies. This study thus aimed to examine regorafenib combined with immune checkpoint inhibitors (ICIs) compared with regorafenib monotherapy in patients with advanced CRC.

Methods: This single-center retrospective cohort study included patients with advanced CRC who experienced recurrence and progression after standard first- and second-line treatments treatment from November 2018 to December 2021.

Parental Involvement, Academic Self-Efficacy, and Depression on Academic Performance Among Chinese Students During COVID-19 Pandemic.

Objective: This study was conducted to identify the factors (especially parental involvement, academic self-efficacy, and depression) associated with academic performance among Chinese K-12 students during the COVID-19 pandemic.

Methods: This cross-sectional study used data from the 2020 China Family Panel Studies (CFPS). The CFPS was conducted from July to December 2020 during the COVID-19 pandemic.

Review disagreements, cultural capital, and cultural discount on imported hollywood movies in China.

Within the context of mounting competition faced by Hollywood movies in the global cinema market, particularly in emerging markets, this paper examines the influence of review disagreements and cultural capital on the cultural discount of imported Hollywood blockbusters in China's movie market. Using a dataset of 652 movies from the U.S.

Public satisfaction with health system after healthcare reform in China.

Background: The Chinese central government launched the third phase of health system reforms in 2009. After a decade since the initiation of the reform, the health system has witnessed noteworthy gains. However, there is no concurrent improvement in public satisfaction with the health system.

Predictors of Medical Care Delay or Avoidance Among Chinese Adults During the COVID-19 Pandemic.

Purpose: Medical care delay or avoidance increases morbidity and mortality risk and is costly for the national healthcare system. The objective of this study was to identify factors associated with medical care delay or avoidance among Chinese adults during the COVID-19 pandemic.

Materials And Methods: A cross-sectional analysis was conducted using data from the 2020 China Family Panel Study (CFPS).

Factors affecting academic performance of college students in China during COVID-19 pandemic: a cross-sectional analysis.

Introduction: Understanding the factors that affected academic performance of students during the COVID-19 pandemic will help design effective interventions for improving students' academic performance during emergency situations as well as during regular academic environment. This cross-sectional study aimed to identify the factors that explain academic performance of students in China during the pandemic.

Methods: Data on college students from the 2020 China Family Panel Studies were used, and the final sample consisted of 728 students.

Two-dimensional InTeClO: an ultrawide-bandgap material with potential application in a deep ultraviolet photodetector.

Ultrawide-bandgap semiconductors, possessing bandgaps distinctly larger than the 3.4 eV of GaN, have emerged as a promising class capable of achieving deep ultraviolet (UV) light detection. Based on first-principles calculations, we propose an unexplored two-dimensional (2D) InTeClO layered system with ultrawide bandgaps ranging from 4.

Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report.

Rationale: KBG syndrome (KBGS, OMIM: 148050), a rare genetic disorder, is clinically characterized by megalodontia, short stature, skeletal abnormalities, and nervous system manifestations. In the study, we explore the clinical and genetic characteristics of one neonate suffering KBGS caused by ANKRD11 gene mutation.

Patient Concerns: The proband, a female, was born prematurely at 31 + 2 weeks.

Realizing tunneling electroresistance effect in the Au/h-BN/In2Se3/Au vertical ferroelectric tunnel junction.

Two-dimensional (2D) ferroelectric tunnel junctions (FTJs) have great potential in the design of non-volatile memory devices due to the tunneling electroresistance (TER) effect and the fact that it is not constrained by critical thickness. Incorporation of 2D ferroelectric materials in realistic FTJs inevitably involves the contacts to the traditional three-dimensional (3D) metals. However, how to design the FTJs by combining the 2D ferroelectric materials with the 3D metals still needs to be studied.

[Clinical and genetic analysis of a very early-onset inflammatory bowel disease type 28 child with atypical clinical manifestation].

Objective: To explore the clinical and genetic characteristics of a very early-onset inflammatory bowel disease (VEO-IBD) type 28 child with atypical clinical manifestations.

Methods: A VEO-IBD type 28 child with atypical clinical manifestations admitted to the Department of Neonatology, Children's Hospital Affiliated to Shandong University on November 5, 2021 was selected as the study subject. Clinical data of the child was collected.

The long-term mediation role of cytokines on the causal pathway from maternal gestational age to offspring eye diseases: Lifecourse-Network Mendelian randomization.

Background: Gestational duration has a significant impact on eye diseases. A large number of evidences suggest that cytokines are associated with gestational duration and eye diseases. However, the causal relationships among cytokines, maternal gestational impairment and offspring eye diseases remain unclear.

Tunnel electroresistance effect in a two-dimensional organic ferroelectric tunnel junction.

Two-dimensional (2D) ferroelectric materials have important application potential in device miniaturization due to their characteristics of only being a few atomic layers thick and non-volatility. How to design high-performance ferroelectric memory devices based on 2D ferroelectric materials has attracted extensive attention. In this work, based on the 2D organic ferroelectric material semi-hydroxylized graphane (SHLGA), which has in-plane ferroelectric polarization along three different directions, we construct a 2D organic ferroelectric tunnel junction (FTJ).

Cultural Distance, Classroom Silence and Culturally Responsive and Inclusive Education: Evidences from Migrant College Students in Shanghai.

This paper investigated the relationship between cultural distance, classroom silence, and the performance of culturally responsive and inclusive education (CRIE) using a survey of 1051 college students in Shanghai in 2022. We found a significantly positive association between migrant students' cultural distance and their perceived learning gains in class. Students' cultural distance increased their classroom silence as a form of protection but had no significant effect on their classroom silence as a sign of power.

How the volatile organic compounds emitted by corpse plant change through flowering.

The corpse plant (Amorphophallus titanum) is so named because it produces a pungent, foul odor when flowering. Little is known about how the emitted volatiles change throughout the two-day flowering period. In this study, the comprehensive monitoring of the presence and change in volatile molecules during the female and the male flowering phases of A.

A synonymous mutation in impacts the transcription and translation process of gene expression.

Phosphatidylinositol-4-kinase alpha (PI4KIIIα), encoded by the gene, can synthesize phosphatidylinositol-4-phosphate (PI-4-P), which serves as a specific membrane marker and is instrumental in signal transduction. mutations can cause autosomal recessive diseases involving neurological, intestinal, and immunological conditions (OMIM:619621, 616531, 619708). We detected sepsis, severe diarrhea, and decreased immunoglobulin levels in one neonate.

A potential pathogenic hypoxia-related gene HK2 in necrotizing enterocolitis (NEC) of newborns.

Background: Necrotizing enterocolitis (NEC) is a disastrous gastrointestinal disease of newborns, and the mortality rate of infants with NEC is approximately 20%-30%. The exploration of pathogenic targets of NEC will be conducive to timely diagnosis of NEC.

Methods: The whole transcriptome RNA sequencing was performed on NEC samples to reveal the expression of lncRNAs, circRNAs, miRNAs and mRNAs.

Sildenafil Improves Pulmonary Vascular Remodeling in a Rat Model of Persistent Pulmonary Hypertension of the Newborn.

Persistent pulmonary hypertension of the newborn (PPHN) is characterized by pulmonary arterial remodeling mainly because of apoptosis resistance and excessive proliferation of pulmonary artery smooth muscle cells (PASMCs). Sildenafil is a phosphodiesterase-5 inhibitor. Some reports have shown that sildenafil exerts protective effects against PPHN.

Tobacco smoking and depressive symptoms in Chinese middle-aged and older adults: Handling missing values in panel data with multiple imputation.

Introduction: The high co-occurrence of tobacco smoking and depression is a major public health concern during the novel coronavirus disease-2019 pandemic. However, no studies have dealt with missing values when assessing depression. Therefore, the present study aimed to examine the effect of tobacco smoking on depressive symptoms using a multiple imputation technique.

Enhancing Resin Cement Adhesion to Zirconia by Oxygen Plasma-Aided Silicatization.

The combinations of alumina particle air abrasion (AA) and a 10-methacryloyloxyidecyl-dihyidrogenphosphate (MDP) primer and a tribochemical silica coating (TSC) and a silane-base primer are contemporary pre-cementation treatments for zirconia restorations for bonding with resin cements. However, the stability of zirconia resists the mechanical or chemical preparations. The purpose of this study was to develop an atmospheric-pressure oxygen plasma (OP)-aided silicatization method to enhance the adhesion of resin cements to zirconia.

Interaction of silane with 10-MDP on affecting surface chemistry and resin bonding of zirconia.

Objective: To investigate the effect of silane contents on their chemical interaction with 10-methacryloyloxydecyl-dihydrogen phosphate (MDP), and affecting the bonding of MDP to zirconia by time-of-flight secondary ion mass spectrometry (TOF-SIMS) and solid-state nuclear magnetic resonance (SSNMR) spectroscopy.

Methods: Zirconia (Cercon ht, Dentsply) slabs were prepared and fully sintered. Experimental primers SE-5 and SE-10 were formulated by adding 5 wt% and 10 wt% γ-methacryloxypropyltrimethoxysilane to an MDP-based primer SE BOND (SE), respectively.

Investigations of silane-MDP interaction in universal adhesives: A ToF-SIMS analysis.

Objectives: The purposes of this study were to investigate whether the presence of silane in universal adhesives affects the functions of 10-methacryloyloxydecyl dihydrogen phosphate (MDP) and adhesion to zirconia.

Methods: Two silane-containing universal adhesives (Scotchbond Universal (SBU) and Clearfil Universal-Bond (CUB)) and two silane-free adhesives (All-Bond Universal (ABU) and SE-Bond primer (SE)) were individually applied on zirconia disks. Time-of-flight secondary-ion-mass-spectrometry (ToF-SIMS) examined the distributions of MDP- and silane-related ions, as well as evidence of zirconium phosphate (ZrP) compounds, on the surface and interfacial regions using a depth profiling mode.

A Metal Ion-Controlled Molecular "Open Bridge" Detecting Oxidative Stress-Disrupted Apoptotic Signaling in Pediatric Neuroblastoma.

Neuroblastoma is a metastatic tumor almost exclusively plaguing young children. To provide an early warning for timely medical interference that may prevent such tragedies from happening, we mimic the biomolecular pathology of this disease and have obtained an assay without using costly biomolecules such as antibodies and enzymes but can still sensitively detect trace level metal ions and metastatic marker proteins in the cerebrospinal fluid of neuroblastoma-bearing children in a one-step and reagentless fashion. Specifically, a surface-tethered "open bridge"-like molecular machine is designed.

Establishment and validation of a logistic regression model for prediction of septic shock severity in children.

Background: Septic shock is the most severe complication of sepsis, and is a major cause of childhood mortality, constituting a heavy public health burden.

Methods: We analyzed the gene expression profiles of septic shock and control samples from the Gene Expression Omnibus (GEO). Four differentially expressed genes (DEGs) from survivor and control groups, non-survivor and control groups, and survivor and non-survivor groups were selected.

Giant tunneling electroresistance arising from reversible partial barrier metallization in the NaTiO/BaTiO/LaTiO ferroelectric tunnel junction.

Tunneling electroresistance (TER) is the change in tunneling resistance induced by ferroelectric polarization reversal in ferroelectric tunnel junctions (FTJs), and how to achieve a giant TER has always been a central topic in the study of FTJs. In this work, by considering the NaTiO3/BaTiO3/LaTiO3 junction with asymmetric polar interfaces as an example, we propose a novel scheme to realize a giant TER based on the reversible partial metallization of ferroelectric barrier upon the switching of ferroelectric polarization. Density functional theory calculations indicate that high on-state and low off-state conductances are obtained and the TER ratio is as high as 3.