Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay.

Background: The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA) and hearing loss (HL) in two patients.

Methods: The patients were subjected to multiplex PCR amplification and next-generation sequencing of common deafness genes (including GJB2, SLC26A4, and MT-RNR1), then bioinformatics analysis was performed on the sequencing data to identify candidate pathogenic variants.

Epidemiological Characterization of Dengue Fever - Yunnan Province, China, 2010-2021.

Objective: The goal of this study is to analyze the epidemiological patterns of dengue fever across different districts and counties in Yunnan Province from 2010 to 2021.

Methods: In this study, we employed joinpoint regression analysis, spatial autocorrelation analysis, and space-time scan analysis to illustrate the spatio-temporal propagation and demographic influence of dengue fever, using both graphical and tabular presentations to clearly demonstrate the findings.

Results: Yunnan Province reported 14,098 cases of dengue fever during the period from 2010 to 2021.

Pyrethroid resistance status and co-occurrence of V1016G, F1534C and S989P mutations in the Aedes aegypti population from two dengue outbreak counties along the China-Myanmar border.

Background: Over the past two decades, dengue fever (DF) has emerged as a significant arboviral disease in Yunnan province, China, particularly in the China-Myanmar border area. Aedes aegypti, an invasive mosquito species, plays a crucial role in transmitting the dengue virus to the local population. Insecticide-based vector control has been the primary tool employed to combat DF, but the current susceptibility status of Ae.

LES investigation of the wavy leading edge effect on cavitation noise.

This paper investigates the noise reduction performance of biomimetic hydrofoils with wavy leading edge and the corresponding mechanisms. We employ Large Eddy Simulation (LES) approach and permeable Ffowcs Williams-Hawkings (PFW-H) method to predict cavitation noise around the baseline and biomimetic hydrofoils. The results show that the wavy leading edge can effectively reduce the high-frequency noise, but has little effect on the low-frequency noise.

Screening UFMylation-associated genes in heart tissues of Ufm1-transgenic mice.

UFMylation is a ubiquitination-like modification that is related to endoplasmic reticulum stress and unfolded protein response. A recent study reported that Ufl1, a key enzyme of UFMylation, protects against heart failure, indicating that UFMylation may be associated with heart function regulation. In the present study, we initially constructed a Flag-6×His-tagged Ufm1ΔSC transgenic (Tg-Ufm1) mouse model that enables UFMylation studies in vivo.

Germline Mutations in 32 Cancer Susceptibility Genes by Next-Generation Sequencing among Breast Cancer Patients.

Introduction: BRCA1/2 germline mutations are the most well-known genetic determinants for breast cancer. However, the distribution of germline mutations in non-BRCA1/2 cancer susceptibility genes in Chinese breast cancer patients is unclear. The association between clinical characteristics and germline mutations remains to be explored.

Association of the visceral adiposity index with arterial stiffness in elderly Chinese population.

Background: The visceral adiposity index (VAI) is a new marker of adipose dysfunction and related with cardiometabolic risk. The aim of this study is to investigate the association of VAI with arterial stiffness in elderly Chinese population.

Methods: A total of 1,707 elderly individuals over 60 years of age were recruited for this cross-sectional study.

Germline Variants in 32 Cancer-Related Genes among 700 Chinese Breast Cancer Patients by Next-Generation Sequencing: A Clinic-Based, Observational Study.

Breast cancer (BC) is associated with hereditary components, and some deleterious germline variants have been regarded as effective therapeutic targets. We conducted a clinic-based, observational study to better understand the distribution of deleterious germline variants and assess any clinicopathological predictors related to the variants among Chinese BC patients using a 32 cancer-related genes next-generation sequencing panel. Between November 2020 and February 2022, a total of 700 BC patients were recruited, and 13.

Long noncoding RNA ZNFX1-AS1 promotes the invasion and proliferation of gastric cancer cells by regulating LIN28 and CAPR1N1.

Background: Long noncoding RNA (lncRNA) ZNFX1-AS1 (ZFAS1) is a newly discovered lncRNA, but its diagnostic value in gastric cancer is unclear.

Aim: To investigate the potential role of ZFAS1 in gastric cancer and to evaluate the clinical significance of ZFAS1 as a biomarker for gastric cancer screening.

Methods: Quantitative real-time polymerase chain reaction (qRT-PCR) was used to screen for gastric cancer-associated lncRNAs in gastric cancer patients, gastric stromal tumor patients, gastritis or gastric ulcer patients, and healthy controls.

The association between visceral adiposity index and leukocyte telomere length in adults: results from National Health and Nutrition Examination Survey.

Background: Leukocyte telomere length (LTL) is a robust marker of biological aging, which is associated with obesity. Recently, the visceral adiposity index (VAI) has been proposed as an indicator of adipose distribution and function.

Objective: To evaluated the association between VAI and LTL in adult Americans.

Economic burden of dengue fever in China: A retrospective research study.

Background: Dengue fever has been a significant public health challenge in China. This will be particularly important in the context of global warming, frequent international travels, and urbanization with increasing city size and population movement. In order to design relevant prevention and control strategies and allocate health resources reasonably, this study evaluated the economic burden of dengue fever in China in 2019.

Novel biomarkers identified in triple-negative breast cancer through RNA-sequencing.

Background And Aims: Triple-negative breast cancer (TNBC) is a subtype of breast cancer with a poor prognosis due to its aggressive biological behavior and lack of therapeutic targets. Here, we aimed to identify specific biomarkers for TNBC by using RNA-sequencing and bioinformatics analysis.

Materials And Methods: Fresh breast tumor tissues were obtained from 34 patients who were admitted to the Breast Center, Peking University People's Hospital, from June 2020 to December 2020; the patients were pathologically diagnosed with primary breast cancer and underwent surgery for the resection of tumor tissues.

Multiple Mutation Detection for Risk Assessment in Patients with Breast Cancer by Using Next-Generation Sequencing.

Objective: Breast cancer is recognized as the most common cause of malignancy and cancer death worldwide; however, mutations in the cancer-related BRCA genes are detected in only 2-3% of patients with breast cancer. Because next-generation sequencing technology allows concurrent sequencing of numerous target genes, diverse cancer-susceptibility genes are now being evaluated, although their significance in clinical practice remains unclear.

Methods: In this study, we developed a sequencing panel containing the genes (), and , which are all associated with cancer risk in patients, and we enrolled 60 patients with breast cancer.

Malaria: elimination tale from Yunnan Province of China and new challenges for reintroduction.

Background: Eradication of infectious disease is the sanctified public health and sustainable development goal around the world.

Main Body: Three antimalarial barriers were developed to control imported malarial cases, and an effective surveillance strategy known as the "1-3-7 approach" was developed to eliminate malaria from the Chinese population. From 2011 to 2019, 5254 confirmed malaria cases were reported and treated in Yunnan Province, China.

Allocation of Ambipolar Charges on an Organic Diradical with a Vinylene-Phenylenediyne Bridge.

Two redox and magnetically active perchlorotriphenylmethyl (PTM) radical units have been connected as end-capping groups to a bis(phenylene)diyne chain through vinylene linkers. Negative and positive charged species have been generated, and the influence of the bridge on their stabilization is discussed. Partial reduction of the electron-withdrawing PTM radicals results in a class-II mixed-valence system with the negative charge located on the terminal PTM units, proving the efficiency of the conjugated chain for the electron transport between the two terminal sites.

Four novel BRCA variants found in Chinese hereditary breast cancer patients by next-generation sequencing.

Breast cancer is the most frequent cancer among women worldwide. Patients carrying mutations in breast cancer susceptibility genes like BRCA1 and BRCA2 (BRCA1/2) account for 5-10% of all breast cancer patients. Therefore, screening for susceptibility genes may reduce the incidence of breast cancer and improve prognosis.

Resonance-Enhanced Charge Delocalization in Carbazole-Oligoyne-Oxadiazole Conjugates.

There are notably few literature reports of electron donor-acceptor oligoynes, even though they offer unique opportunities for studying charge transport through "all-carbon" molecular bridges. In this context, the current study focuses on a series of carbazole-(C≡C)-2,5-diphenyl-1,3,4-oxadiazoles ( = 1-4) as conjugated π-systems in general and explores their photophysical properties in particular. Contrary to the behavior of typical electron donor-acceptor systems, for these oligoynes, the rates of charge recombination after photoexcitation increase with increasing electron donor-acceptor distance.

Increasing SARS-CoV-2 nucleic acid testing capacity during the COVID-19 epidemic in Beijing: experience from a general hospital.

Under the ongoing COVID-19 prevention and control measures in China, increasing the laboratory severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) nucleic acid testing capacity has become the top priority. Since the COVID-19 outbreak in Xinfadi market in Beijing in June 2020, large-scale screening of key populations has been carried out, challenging the nucleic acid testing capabilities of hospital laboratories. Therefore, within 48 hours, Peking University People's Hospital (PKUPH) transformed a non-nucleic acid testing laboratory into a SARS-CoV-2 nucleic acid testing laboratory.

Selective Protein Separation Based on Charge Anisotropy by Spherical Polyelectrolyte Brushes.

Protein purification is of vital importance in the food industry, drug discovery, and other related fields. Among many separation methods, polyelectrolyte (PE)-based phase separation was developed and recognized as a low-cost purification technique. In this work, spherical polyelectrolyte brushes (SPBs) with a high specific surface area were utilized to study the protein accessibility and selective protein binding on highly charged nanoparticles (NPs) as well as the selective phase separation of proteins.

Spatiotemporal Trends of Malaria in Relation to Economic Development and Cross-Border Movement along the China-Myanmar Border in Yunnan Province.

The heterogeneity and complexity of malaria involves political and natural environments, socioeconomic development, cross-border movement, and vector biology; factors that cannot be changed in a short time. This study aimed to assess the impact of economic growth and cross-border movement, toward elimination of malaria in Yunnan Province during its pre-elimination phase. Malaria data during 2011-2016 were extracted from 18 counties of Yunnan and from 7 villages, 11 displaced person camps of the Kachin Special Region II of Myanmar.

Malaria Risk Map Using Spatial Multi-Criteria Decision Analysis along Yunnan Border During the Pre-elimination Period.

In moving toward malaria elimination, finer scale malaria risk maps are required to identify hotspots for implementing surveillance-response activities, allocating resources, and preparing health facilities based on the needs and necessities at each specific area. This study aimed to demonstrate the use of multi-criteria decision analysis (MCDA) in conjunction with geographic information systems (GISs) to create a spatial model and risk maps by integrating satellite remote-sensing and malaria surveillance data from 18 counties of Yunnan Province along the China-Myanmar border. The MCDA composite and annual models and risk maps were created from the consensus among the experts who have been working and know situations in the study areas.

A Compound Heterozygosis of Two Novel Mutations Causes Factor X Deficiency in a Chinese Pedigree.

Background: Mutations in the F10-coding gene can cause factor X (FX) deficiency, leading to abnormal coagulation activity and severe tendency for hemorrhage. Therefore, identifying mutations in F10 is important for diagnosing congenital FX deficiency.

Methods: We studied a 63-year-old male patient with FX deficiency and 10 of his family members.

A novel heterozygous HTRA1 mutation is associated with autosomal dominant hereditary cerebral small vessel disease.

Background: We investigated whether a heterozygous mutation that we newly identified in HTRA1 (high-temperature requirement serine protease A1 gene) in a pedigree with autosomal dominant hereditary cerebral small vessel disease (SVD) reduces the function of HTRA1 and affects the transforming growth factor-β1 (TGF-β1)/Smad signaling.

Methods: Whole-exome sequence from the proband and her two sisters was examined using whole-exome enrichment and sequencing. Expression of HTRA1 and TGF-β1/Smad and HTRA1 activity were assayed using sodium dodecyl sulfate-polyacrylamide gel electrophoresis and western blotting analyses after transfecting wild-type and mutant HTRA1 genes into HEK293 cells.

The Imbalance of Circulating Follicular Helper T Cells and Follicular Regulatory T Cells Is Associated With Disease Activity in Patients With Ulcerative Colitis.

Ulcerative colitis (UC) is a chronic inflammatory bowel disease affecting the colon and rectum, in which the abnormality of B cells is involved in both its pathogenesis and progression. Follicular helper T cells (TFH) play an important role in assisting the immune function of human B cells in germinal centers, and follicular regulatory T cells (TFR) have the function of inhibiting TFH and germinal center B cell responses. The significance of circulating TFH and TFR in ulcerative colitis (UC) remains unclear.

Infection of Epstein-Barr Virus is Associated with the Decrease of HeliosFoxP3Regulatory T Cells in Active Ulcerative Colitis Patients.

: Loss of immune homeostasis to enteric pathogens is considered to be involved in the pathogenesis of ulcerative colitis (UC), and regulatory T cells (Tregs) are key for this immune homeostasis. Helios exhibits an important effect on regulating the suppressive function of Tregs. Epstein-Barr virus (EBV) is more commonly detected in UC.