Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.

Background: The aim of this study was to analyse the differences in the phenotypes of missing teeth between a pair of brothers with hypohidrotic ectodermal dysplasia (HED) and to investigate the underlying mechanism by comparing the mutated gene loci between the brothers with whole-exome sequencing.

Methods: The clinical data of the patients and their mother were collected, and genomic DNA was extracted from peripheral blood samples. By Whole-exome sequencing filtered for a minor allele frequency (MAF) ≤0.

Boosting electrocatalytic performance via electronic structure regulation for acidic oxygen evolution.

High-purity hydrogen produced by water electrolysis has become a sustainable energy carrier. Due to the corrosive environments and strong oxidizing working conditions, the main challenge faced by acidic water oxidation is the decrease in the activity and stability of anodic electrocatalysts. To address this issue, efficient strategies have been developed to design electrocatalysts toward acidic OER with excellent intrinsic performance.

The oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel variant.

Objectives: To analyse the pathogenic genes in a patient with hypohidrotic ectodermal dysplasia (HED) and explore the relationship between pathogenic genes and the oligodontia phenotype.

Methods: Clinical data and peripheral blood were collected from a patient with HED. Pathogenic genes were analysed by whole-exon sequencing (WES) and verified by Singer sequencing.

[The Levels of Inflammatory Regulatory Factors in Acute Leukemia Complicated by Infection and Its Clinical Significance].

Objective: To explore the expression levels and clinical significance of helper T cell 1/helper T cell 2 (Th1/Th2) cytokine and interleukin-6 (IL-6) in patients with acute leukemia (AL) complicated by infection.

Methods: 68 patients with AL complicated by infection admitted to Wuhan Fifth Hospital from May 2017 to January 2020 were enrolled as study group, 50 AL patients without infection were enrolled as AL group, and 30 healthy volunteers checked in physical examination center were enrolled as healthy control group. The levels of serum tumor necrosis factor-α (TNF-α), interleukin-6 (IL-6) and interleukin-10 (IL-10), and peripheral blood Th1/Th2 cells subsets were measured and compared among the three groups.

Susceptibility artifacts induced by crowns of different materials with prepared teeth and titanium implants in magnetic resonance imaging.

This study aimed to investigate the artifacts induced by crowns composed of different materials with prepared teeth and titanium implants. Resin, metal-ceramic, ceramic and zirconia crowns were fabricated and placed onto the prepared teeth on a human cadaver head or titanium implants with prosthesis abutments on a dry human mandible. The samples were scanned on a 1.

Dual-emissive carbon dots for dual-channel ratiometric fluorometric determination of pH and mercury ion and intracellular imaging.

Dual-emissive carbon dots (CDs) were fabricated for dual-channel ratiometric fluorometric determination of pH and mercury ion (Hg) and intracellular imaging. Dual-emissive CDs were synthesized by one-pot solvothermal treatment of cabbage. The CDs exhibited two distinctive fluorescence emissions at 500 and 678 nm under single excitation at 410 nm.

Early Caries Preventive Effects of Casein Phosphopeptide-Amorphous Calcium Phosphate (CPP-ACP) Compared with Conventional Fluorides: A Meta-analysis.

Purpose: To assess the current evidence regarding the early caries preventive effects of CPP-ACP compared with fluorides.

Materials And Methods: An electronic search from PubMed, Cochrane Library, EMBASE, Web of Science and ScienceDirect database with a complementary gray literature search for randomised controlled human clinical trials were carried out. No language restrictions were applied.

Effects of different anti-caries procedures on microhardness and micromorphology of irradiated permanent enamel.

To explore the effects of infiltration resin, casein phosphate polypeptide-amorphous calcium phosphate (CPP-ACP) and fluoride on microhardness and micromorphology of irradiated enamel. Sixty human permanent teeth were mesiodistally sectioned, yielding 120 enamel samples, which randomly divided into 8 groups: G1: blank control; G2: irradiation control; G3: irradiation+fluoride; G4: irradiation+CPP-ACP; G5: irradiation+CPP-ACP+fluoride; G6: irradiation+infiltration resin; G7: irradiation+infiltration resin+fluoride; G8: irradiation+infiltration resin+CPP-ACP. A progressive improvement was observed on the superficial morphology of enamel treated with different anti-caries procedures.

Effects of different anti-caries agents on microhardness and superficial microstructure of irradiated permanent dentin: an in vitro study.

Background: To compare different anti-caries agents on microhardness and micromorphology of irradiated permanent dentin in vitro, and try to find the most effective agent to prevent radiation-dentin-destruction.

Methods: A total of 120 dentin samples were prepared from 60 human teeth and randomly divided into 8 groups (n = 15), [ (1)] blank control [2]; irradiation control [3]; irradiation+ fluoride [4]; irradiation+ casein phosphate polypeptide-amorphous calcium phosphate (CPP-ACP) [5]; irradiation+ CPP-ACP+ fluoride [6]; irradiation+ infiltration resin [7]; irradiation+ infiltration resin+ fluoride [8]; irradiation+ infiltration resin+ CPP-ACP. Seven samples of each groups were chosen randomly for microhardness test and eight for scanning electron microscope observation.

[Analysis of the risk factors of radiation-induced caries in patients with head and neck cancer].

Objective: This study aimed to evaluate the risk factors of radiation-induced caries by using a multiple linear regression equation and to provide the basis for the effective prevention of radioactive caries.

Methods: A total of 166 patients with head and neck cancer who underwent radiotherapy were selected as subjects. The number of decayed, missing or filled surfaces were recorded.

Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.

Background: Hypohidrotic ectodermal dysplasia (HED) is a common recessive X-linked hereditary disease that affects the development of ectoderm. Gene mutations of ectodysplasin A (EDA) play key roles in process of this disease. In our preliminary study, three unknown mutation sites (c.

[CRISPR/Cas9 System and Its Advances in Gene Therapy of Hematologic Diseases--Review].

In recent years, with the development of gene editing technology, the site-specific genome can be modified. The curability of genetic disease may be achieved by the use of gene editing techniques. As the simplicity, high specificity and economical efficiency, much attention has been paid to the CRISPR/Cas9 system, which was been widely used in research of molecular biology and other fields of life science.

[Research Progress on the Role of Pyroptosis in the Pathogenesis of Myelodysplastic Syndrome -Review].

Pyroptosis is a novel type of programmed cell death, which is closely related with the pathogenesis of myelodysplastic syndromes (MDS). The recent studies showed that all of S100A9/TLR4, S100A9/CD33 and Nox/ROS signaling pathways can activate oxygen-sensitivity NLRP3 inflammasome and then induce the pyroptosis of hematopoeitic stem cells (HSC) / hematopeitic pregenitor cells (HPC), resulting in ineffective hematopoiesis in patients with MDS. Further studies on the role and molecular mechanism of pyroptosis in the pathogenesis of MDS will provide the potential opportunity for the diagnosis and treatment of MDS.

Engineering chimeric antigen receptor-T cells for cancer treatment.

Intratumor heterogeneity of tumor clones and an immunosuppressive microenvironment in cancer ecosystems contribute to inherent difficulties for tumor treatment. Recently, chimeric antigen receptor (CAR) T-cell therapy has been successfully applied in the treatment of B-cell malignancies, underscoring its great potential in antitumor therapy. However, functional challenges of CAR-T cell therapy, especially in solid tumors, remain.

High-throughput sequencing of the immune repertoire in oncology: Applications for clinical diagnosis, monitoring, and immunotherapies.

The diagnostic, monitoring and therapeutic options for cancers currently remain limited. These limitations represent a large threat to human health. Adaptive immunity, which is dependent on diverse repertoires of B cell receptors (BCRs) and T cell receptors (TCRs), plays a critical role in the anti-tumor immune response.

[Interforaminal regions of 287 Han adults evaluated by cone-beam computed tomography].

Purpose: The mandibular anatomical structures including mental foramen, accessory mental foramina, anterior loop were measured and analyzed by cone-beam CT (cone-beam computed tomography, CBCT) , in order to provide some information during surgical procedures in interforaminal regions.

Methods: Two hundred and eighty-seven Chinese Han patients who visited Stomatological Department of Xiangya Hospital were included in this study. Patients were scanned by cone-beam computed tomography, and the information of interforaminal region was collected from the images.

Antioxidant profiling of vine tea (Ampelopsis grossedentata): Off-line coupling heart-cutting HSCCC with HPLC-DAD-QTOF-MS/MS.

Vine tea with strong antioxidant activity is commonly consumed as healthy tea/beverage. However, detailed information about its antioxidants is incomplete. Here, off-line hyphenation of heart-cutting high-speed countercurrent chromatography (HSCCC) with high performance liquid chromatography-diode array detector-quadrupole time-of-flight tandem mass spectrometry (HPLC-DAD-QTOF-MS/MS) were described for systematic profiling antioxidants in vine tea.

Genetically Modified T-Cell-Based Adoptive Immunotherapy in Hematological Malignancies.

A significant proportion of hematological malignancies remain limited in treatment options. Immune system modulation serves as a promising therapeutic approach to eliminate malignant cells. Cytotoxic T lymphocytes (CTLs) play a central role in antitumor immunity; unfortunately, nonspecific approaches for targeted recognition of tumor cells by CTLs to mediate tumor immune evasion in hematological malignancies imply multiple mechanisms, which may or may not be clinically relevant.

Meisoindigo, but not its core chemical structure indirubin, inhibits zebrafish interstitial leukocyte chemotactic migration.

Context: Inflammatory disease is a big threat to human health. Leukocyte chemotactic migration is required for efficient inflammatory response. Inhibition of leukocyte chemotactic migration to the inflammatory site has been shown to provide therapeutic targets for treating inflammatory diseases.

A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree.

Background: Tooth agenesis is a common developmental dental anomaly. The aim of the study was to identify the causal genetic mutation in a four-generation Chinese family affected with non-syndromic autosomal dominant tooth agenesis.

Methods: Genome-wide scanning was performed using the Illumina Linkage-12 array.

Flow Cytometric Immunophenotyping Is Sensitive for the Early Diagnosis of De Novo Aggressive Natural Killer Cell Leukemia (ANKL): A Multicenter Retrospective Analysis.

Aggressive natural killer cell leukemia (ANKL) is a fatal hematological neoplasm characterized by a fulminating clinical course and extremely high mortality. Current diagnosis of this disease is not effective during the early stages and it is easily misdiagnosed as other NK cell disorders. We retrospectively analyzed the clinical characteristics and flow cytometric immunophenotype of 47 patients with ANKL.

Single-Cell Sequencing Technology in Oncology: Applications for Clinical Therapies and Research.

Cellular heterogeneity is a fundamental characteristic of many cancers. A lack of cellular homogeneity contributes to difficulty in designing targeted oncological therapies. Therefore, the development of novel methods to determine and characterize oncologic cellular heterogeneity is a critical next step in the development of novel cancer therapies.

Interaction mechanism exploration of HEA derivatives as BACE1 inhibitors by in silico analysis.

The β-site amyloid precursor protein cleaving enzyme 1 (BACE1) initiates the generation of β-amyloid (Aβ) peptides which play a critical early role in the pathogenesis of Alzheimer's disease (AD), and thus it is a prime target for lowering the Aβ levels to treat AD. In the present work, a dataset of 128 promising hydroxyethylamine (HEA) derivatives as newly synthesized BACE1 inhibitors was selected to perform simulations by using 3D-QSAR, molecular docking and molecular dynamics (MD) approaches, to explore the binding mode and structural determinants required for high inhibitory potency. The resultant optimal comparative molecular similarity indices analysis (CoMSIA) model displays strong predictability (Q(2) = 0.

Stepwise discriminant function analysis for rapid identification of acute promyelocytic leukemia from acute myeloid leukemia with multiparameter flow cytometry.

Diagnosis of acute promyelocytic leukemia (APL) has been accelerated by multiparameter flow cytometry (MFC). However, diagnostic interpretation of MFC readouts for APL depends on individual experience and knowledge, which inevitably increases the risk of arbitrariness. We appraised the feasibility of using stepwise discriminant function analysis (SDFA) based on MFC to optimize the minimal variables needed to distinguish APL from other acute myeloid leukemia (AML) without complicated data interpretation.

Association Between TP53 Gene Codon 72 Polymorphism and Acute Myeloid Leukemia Susceptibility: Evidence Based on a Meta-Analysis.

Background: Many studies have reported that the p53 codon 72 polymorphism is associated with acute myeloid leukemia (AML) susceptibility; however, the conclusions are inconsistent. Therefore, we performed this meta-analysis to obtain a more precise result.

Material And Methods: We searched PubMed to identify relevant studies, and 6 published case-control studies were retrieved, including 924 AML patients and 3832 controls.