Identification of novel variants in BRF1 gene from patient with developmental delay, hearing abnormality, and nervous system anomalies.

Cerebellofaciodental syndrome characterized with dysmorphic features, intellectual disability, and brain anomalies. Now its clinical spectrum expanded more manifestations including bilateral sensorineural hearing impairment and inner ear malformation. Here, we report a 14-month-old boy with global developmental delay and hearing disorder.

Expanding the genetic and phenotypic relevance of CLCN4 variants in neurodevelopmental condition: 13 new patients.

Objectives: CLCN4 variations have recently been identified as a genetic cause of X-linked neurodevelopmental disorders. This study aims to broaden the phenotypic spectrum of CLCN4-related condition and correlate it with functional consequences of CLCN4 variants.

Methods: We described 13 individuals with CLCN4-related neurodevelopmental disorder.

Developing and validating machine learning-based prediction models for frailty occurrence in those with chronic obstructive pulmonary disease.

Background: Frailty is a medical syndrome caused by multiple factors, characterized by decreased strength, endurance, and diminished physiological function, resulting in increased susceptibility to dependence and/or death. Patients with chronic obstructive pulmonary disease (COPD) tend to be more vulnerable to frailty due to their physical and psychological burdens. Therefore, the aim of this study was to develop a reliable and accurate vulnerability risk prediction model for frailty in patients with COPD in order to improve the identification and prediction of patient frailty.

Identification of Genes and Key Pathways Associated with the Pathophysiology of Lung Cancer and Atrial Fibrillation.

Background: Lung cancer is a malignant tumor originating from respiratory epithelial cells in the bronchi, bronchioles, and alveoli, often associated with atrial fibrillation; However, there is a lack of in-depth understanding of its genetic basis and molecular mechanisms. Our goal is to study the genes and signaling networks associated with cancer and atrial fibrillation.

Materials And Methods: We obtained microarray datasets for lung tumors from the Gene Expression Omnibus (GEO) database and AF for this investigation: GSE30219, GSE79768, and screened the candidate specimens in both microarrays for differential genes at P < .

Fabry-Pérot optical frequency comb based mm-wave RoF system using pilot-assisted equalizer.

The emergence of the millimeter wave (mm-Wave; 30 GHz to 300 GHz) frequency band holds a lot of promise for addressing the congestion at low frequency in future mobile networks. Among many mm-Wave generation schemes, optical heterodyning is considered one of the most promising approaches due to its scalability and potential for integration on chip. Employing optical frequency combs (OFC) for optical heterodyning alleviates the significant phase distortions/noise introduced by the optical sources.

Compromised word-level neural tracking in the high-gamma band for children with attention deficit hyperactivity disorder.

Children with attention deficit hyperactivity disorder (ADHD) exhibit pervasive difficulties in speech perception. Given that speech processing involves both acoustic and linguistic stages, it remains unclear which stage of speech processing is impaired in children with ADHD. To investigate this issue, we measured neural tracking of speech at syllable and word levels using electroencephalography (EEG), and evaluated the relationship between neural responses and ADHD symptoms in 6-8 years old children.

Elimination of methicillin-resistant Staphylococcus aureus biofilms on titanium implants via photothermally-triggered nitric oxide and immunotherapy for enhanced osseointegration.

Background: Treatment of methicillin-resistant Staphylococcus aureus (MRSA) biofilm infections in implant placement surgery is limited by the lack of antimicrobial activity of titanium (Ti) implants. There is a need to explore more effective approaches for the treatment of MRSA biofilm infections.

Methods: Herein, an interfacial functionalization strategy is proposed by the integration of mesoporous polydopamine nanoparticles (PDA), nitric oxide (NO) release donor sodium nitroprusside (SNP) and osteogenic growth peptide (OGP) onto Ti implants, denoted as Ti-PDA@SNP-OGP.

A novel variant in BCL11B in an individual with neurodevelopmental delay: A case report.

Background: B-Cell CLL/Lymphoma 11B (BCL11B) is a C H zinc finger transcription factor that has broad biological functions and is essential for the development of the immune system, neural system, cardiovascular system, dermis, and dentition. Variants of BCL11B have been found in patients with neurodevelopmental disorders and immunodeficiency.

Materials And Methods: Whole-exome sequencing (WES) and clinical examinations were performed to identify the etiology of our patient.

Case report and literature review: Novel compound heterozygous variants causing both of peripheral and central nervous system defects.

Background: Pathogenic variants in the gene have been described to be associated with a diverse spectrum of syndromes, such as autosomal recessive bilateral temporooccipital polymicrogyria (OMIM 612691), autosomal dominant amyotrophic lateral sclerosis-11 (ALS11; OMIM 612577), autosomal recessive Charcot-Marie-Tooth disease, type 4J (CMT4J; OMIM 611228), and autosomal recessive Yunis-Varon syndrome (YVS; OMIM 216340). Heterozygous variants are responsible for ALS11 characterized by progressive muscular weakness, atrophy, and bulbar palsy. CMT4J is a disorder of peripheral nervous system defects mainly presenting with a highly variable onset of proximal and/or distal muscle weakness.

Fabrication of gelatin-based and Zn-incorporated composite hydrogel for accelerated infected wound healing.

Gelatin-based hydrogels have a broad range of biomedical fields due to their biocompatibility, convenience for chemical modifications, and degradability. However, gelatin-based hydrogels present poor antibacterial ability that hinders their applications in treating infected wound healing. Herein, a series of multifunctional hydrogels (Gel@Zn) were fabricated through free-radical polymerization interaction based on gelatin methacrylate (GelMA) and dopamine methacrylate (DMA), and then immersed them into zinc nitrate solutions based on the metal coordination and ionic bonding interaction.

Novel SNX13 Frameshift Variant in an Individual with Developmental Delay.

Recently, an increasing number of genes have been associated with global developmental delay (GDD) and intellectual disability (ID). The sorting nexin (SNX) protein family plays multiple roles in protein trafficking and intracellular signaling. SNXs have been reported to be associated with several disorders, including Alzheimer disease and Down syndrome.

Effects of titanium with different micro/nano structures on the ability of osteoblasts to resist oxidative stress.

Excessive accumulation of oxidative intermediates in the elderly significantly aggravates bone degradation and hinders the osseointegration of topological titanium (Ti) implants. Thus, it is of great significance to evaluate the antioxidant and osteoinduction capabilities of various nano, micro or micro/nano-composite structures under oxidative stress (OS) microenvironment. In this study, we discovered that 110 nm titania nanotubes (TNTs) enhanced the adsorption of fibronectin (FN) proteins onto smooth and rough titanium surfaces to varying degrees.

Association Between MTHFR C677T Polymorphism and Susceptibility to Autism Spectrum Disorders: A Meta-Analysis in Chinese Han Population.

Prior studies have examined the influence of MTHFR C677T on autism susceptibility, however, there are no consensus conclusions and specific analyses of a Chinese population. This meta-analysis included a false-positive report probability (FPRP) test to comprehensively evaluate the association of MTHFR C677T polymorphism with autism susceptibility among a Chinese Han population. A large-scale literature retrieval was conducted using various databases including PubMed, Embase, Wan Fang, and the Chinese National Knowledge Infrastructure (CNKI) up to July 31, 2020, with a total of 2,258 cases and 2,073 controls included.

Low-power and high-speed 2 × 2 thermo-optic MMI-MZI switch with suspended phase arms and heater-on-slab structure.

We propose a ${2} \times {2}$ thermo-optic switch with high switching performance. The switch is based on multimode interferometer (MMI) couplers and a Mach-Zehnder interferometer (MZI) structure, where the phase arms are designed as laterally supported suspended ridge waveguides (LSSRWs) with a metallic heater placed on the slab. It is experimentally demonstrated that this switch has a power consumption of 1.

Overcoming the hypoxia-induced drug resistance in liver tumor by the concurrent use of apigenin and paclitaxel.

The chemotherapeutic efficacy of paclitaxel against hypoxic tumors is usually unsatisfactory, which is partially due to the so-called hypoxia-induced drug resistance. The mechanism of hypoxia-induced resistance is primarily associated with hypoxia-inducible factor 1α (HIF-1α), which is an oxygen-sensitive transcriptional activator coordinating the cellular response to hypoxia. Apigenin is a natural occurring HIF-1α inhibitor that can suppress the expression of HIF-1α through multiple pathways and reverse the hypoxia-induced resistance found in cancer cells.

Exosomal miR-182 regulates the effect of RECK on gallbladder cancer.

Background: As the most common biliary malignancy, gallbladder cancer (GC) is an elderly-biased disease. Although extensive studies have elucidated the molecular mechanism of microRNA 182 (miR-182) and reversion-inducing-cysteine-rich protein with kazal motifs (RECK) in various cancers, the specific role of exosomal miR-182 and RECK in GC remains poorly understood.

Aim: To explore the relationship between exosomal miR-182/RECK and metastasis of GC.

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.

Introduction: The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47).

Case Presentation: Here we present a Chinese patient with spastic tetraplegia, moderate psychomotor development delay and febrile seizures plus.

Upregulation of miR-34c after silencing E2F transcription factor 1 inhibits paclitaxel combined with cisplatin resistance in gastric cancer cells.

Background: MicroRNA 34c (miR-34c) has been reported to be associated with malignant types of cancer, however, it remains unknown whether miR-34c is involved in chemoresistance in gastric cancer (GC).

Aim: To investigate the effect of miR-34c and its upstream transcription factor E2F1 on paclitaxel combined with cisplatin resistance in GC cells.

Methods: Paired GC tissues and adjacent normal tissues were randomly sampled from 74 GC patients.

Enzyme responsive titanium substrates with antibacterial property and osteo/angio-genic differentiation potentials.

After implantation into a host, titanium (Ti) orthopaedic materials are facing two major clinical challenges: bacterial infection and aseptic loosening, which directly determine the long-term survival of the implant. To endow Ti implant with self-defensive antibacterial properties and desirable osteo/angio-genic differentiation potentials, hyaluronic acid (HA)-gentamicin (Gen) conjugates (HA-Gen) and chitosan (Chi) polyelectrolyte multilayers were constructed on deferoxamine (DFO) loaded titania nanotubes (TNT) substrates via layer-by-layer (LBL) assembly technique, termed as TNT/DFO/HA-Gen. The HA-Gen conjugate was characterized by Fourier transform infrared spectroscopy (FTIR) and nuclear magnetic resonance (H NMR).

β-Catenin Controls the Electrophysiologic Properties of Skeletal Muscle Cells by Regulating the α2 Isoform of Na/K-ATPase.

β-Catenin is a key component of the canonical Wnt signaling pathway. It has been shown to have an important role in formation of the neuromuscular junction. Our previous studies showed that in the absence of β-catenin, the resting membrane potential (RMP) is depolarized in muscle cells and expression of the α2 subunit of sodium/potassium adenosine triphosphatase (α2NKA) is reduced.

[A genotyping study of 13 cases of early-onset Charcot-Marie-Tooth disease].

Objective: To study the clinical characteristics and genetic variation of early-onset Charcot-Marie-Tooth disease (CMT).

Methods: Children with a clinical diagnosis of early-onset CMT were selected for the study. Relevant clinical data were collected, and electromyogram and CMT-related gene detection were performed and analyzed.

Biocompatible MoS/PDA-RGD coating on titanium implant with antibacterial property via intrinsic ROS-independent oxidative stress and NIR irradiation.

To inhibit bacterial infection in situ and improve osseointegration are essentially important for long-term survival of an orthopedic implant, in particular for infection-associating revision surgery. Herein, we fabricate a functional molybdenum disulfide (MoS)/polydopamine (PDA)-arginine-glycine-aspartic acid (RGD) coating on titanium (Ti) implant to address above concerns simultaneously. The coating not only improved the osteogenesis of mesenchymal stem cells (MSCs), but also endowed Ti substrates with effective antibacterial ability when exposing to near-infrared (NIR) irradiation.

Fabrication of magnesium/zinc-metal organic framework on titanium implants to inhibit bacterial infection and promote bone regeneration.

The residual bacteria in the second revision surgery caused by infection would further lead to the failure of the implantation. Pathogenic bacteria adhesion to an implant surface not only interfere the functions of bone-formation related cells, but also activate the host immune system, thus resulting in inflammation and osteogenesis inhibition. Thus, to fabricate multifunctional (antibacterial, anti-inflammation and pro-osteogenesis) titanium implants is essential to address this issue.

Titania nanotubes promote osteogenesis via mediating crosstalk between macrophages and MSCs under oxidative stress.

Before mesenchymal stem cells (MSCs) adhere to the surface of an implant and differentiate into osteoblasts, monocytes (especially macrophages) arrive at the bone injury site and interact with the implant and subsequent MSCs. In our previous study, large titania nanotubes (TNT) had been verified to endow superior oxidation resistance to osteoblasts. The early regulation between macrophages and MSCs by surface nanotubes under oxidative stress (OS) was evaluated further in this study.

Performance-enhanced silicon thermo-optic Mach-Zehnder switch using laterally supported suspended phase arms and efficient electrodes.

We report a silicon thermo-optic Mach-Zehnder switch with a broadband, low switching power, and fast response. A broadband 3 dB directional coupler is used to act as a power splitter. Laterally supported suspended phase arms are employed to substantially reduce the switching power without sacrificing too much on the temporal response.