OBJECTIVE: To identify the gene mutation types of 4 suspected β-thalassemia patients in Yunnan Province, and to analyze the genotypes and hematological phenotypes. METHODS: Whole genome sequencing was performed on the samples of 4 suspected β-thalassemia patients from the Dai ethnic group in a thalassemia endemic area of Yunnan Province, whose hematological phenotypes were not consistent with the results of common thalassemia gene mutations. The mutations of β-globin gene clusters were confirmed by polymerase chain reaction (PCR) and Sanger DNA sequencing technology. RESULTS: The 3.5 kb deletion in β-globin gene cluster (NC_000011.10: g. 5224302-5227791del3490bp) was detected in 4 patients' samples, of which 1 case was also detected with HbE mutation and 1 case with CD17 mutation. These 2 patients displayed moderate anemia phenotype, while the two patients with only the 3.5 kb deletion presented with other mild anemia phenotype. CONCLUSION Heterozygous carriers with rare 3.5 kb deletion of the β-globin gene cluster may develop mild anemia, compound mutations of the 3.5 kb deletion with other mutations may led to intermediate thalasemia with moderate to sever anemia. In areas with a high incidence of thalassemia, suspected patients should undergo genetic testing to avoid missing or misdiagnosing rare mutations.
Humans ; beta-Globins/genetics* ; Multigene Family ; beta-Thalassemia/genetics* ; Mutation ; Genotype ; Sequence Deletion ; Phenotype ; Male ; Female

Objective:To develop, validate and initially apply a joint function and health assessment scale for juvenile idiopathic arthritis patients.Methods:The first draft of the juvenile idiopathic arthritis joint function and health assessment scale was developed through literature analysis, discussion by the research team, semi-structured interviews, Delphi expert correspondence. From March to June 2024, a total of 260 children with juvenile idiopathic arthritis or their parents were prospectively recruited from Department of Rheumatology and Immunology, Children′s Hospital of Chongqing Medical University by convenience sampling method for pre-investigation and formal investigation.The reliability and validity of the scale were tested by item analysis, reliability analysis, exploratory factor analysis, content validity and criterion validity analysis, and the responsiveness of the scale to clinical changes was evaluated by estimating the minimum clinically important difference, and finally the formal scale was formed.Results:The juvenile idiopathic arthritis joint function and health assessment scale included disease activity assessment, daily activity and function assessment, pain, fatigue and disease outcome assessment, with a total of 5 dimensions and 24 items, in which the functional assessment subscale included 4 secondary dimensions and 18 items. The Cronbach′s α coefficient of the function assessment subscale was 0.88, the fold-half reliability was 0.86, and the test-retest reliability after 2-4 weeks was 0.84; the item-level content validity index was 0.80-1.00, and the scale-level content validity index was 0.93. Exploratory factor analysis extracted 4 common factors with a cumulative variance contribution of 70.0%. Preliminary application indicated the functional assessment subscale was moderately correlated with childhood health assessment questionnaire ( r=0.70, P<0.05), the total scale was strongly correlated with juvenile arthritis disease activity score-27 ( r=0.92, P<0.05), and moderately correlated with both active and limited joint count ( r=0.77, 0.68, both P<0.05). Reactivity analysis suggested that the minimum clinically important difference between the two visits of 41 children with clinical improvement and 25 children with disease activity was 0.49 (0.44, 0.54) and 0.51 (0.43, 0.58). Conclusion:The juvenile idiopathic arthritis joint function and health assessment scale has good reliability and validity, and has certain responsiveness to clinical changes, is simple and operable, and can be used as a tool for assessing joint function in children with juvenile idiopathic arthritis.

Background and Objectives: Osteoblasts are derived from bone marrow mesenchymal stem cells (BMMSCs) and playimportant role in bone remodeling. While our previous studies have investigated the cell subtypes and heterogeneity in osteoblasts and BMMSCs separately, cell-to-cell communications between osteoblasts and BMMSCs in vivo in humans have not been characterized. The aim of this study was to investigate the cellular communication between human primary osteoblasts and bone marrow mesenchymal stem cells. Methods: and Results: To investigate the cell-to-cell communications between osteoblasts and BMMSCs and identifynew cell subtypes, we performed a systematic integration analysis with our single-cell RNA sequencing (scRNA-seq) transcriptomes data from BMMSCs and osteoblasts. We successfully identified a novel preosteoblasts subtype which highly expressed ATF3, CCL2, CXCL2 and IRF1. Biological functional annotations of the transcriptomes suggested that the novel preosteoblasts subtype may inhibit osteoblasts differentiation, maintain cells to a less differentiated status and recruit osteoclasts. Ligand-receptor interaction analysis showed strong interaction between mature osteoblasts and BMMSCs. Meanwhile, we found FZD1 was highly expressed in BMMSCs of osteogenic differentiation direction. WIF1 and SFRP4, which were highly expressed in mature osteoblasts were reported to inhibit osteogenic differentiation. We speculated that WIF1 and sFRP4 expressed in mature osteoblasts inhibited the binding of FZD1 to Wnt ligand in BMMSCs, thereby further inhibiting osteogenic differentiation of BMMSCs. Conclusions Our study provided a more systematic and comprehensive understanding of the heterogeneity of osteogenic cells. At the single cell level, this study provided insights into the cell-to-cell communications between BMMSCs and osteoblasts and mature osteoblasts may mediate negative feedback regulation of osteogenesis process.

Objective: To establish reference values for carotid intima-media thickness (CIMT) of adult dwellers in Shenzhen City. Methods: The study was conducted based on the Shenzhen heart failure epidemiological survey from 2021 to 2022. In this survey, residents aged 18 years and above in Shenzhen were selected by using a multi-stage stratified random sampling method. General information, cardiovascular disease (CVD) related behavior and carotid ultrasound examination and etc. were collected from the participants. People with CVD factors, a history of atherosclerotic cardiovascular disease, carotid plaque or having no carotid ultrasound examination results were excluded. The parameter regression model based on fractional polynomial was used to establish the reference values of CIMT by age and sex. Results: A total of 2 163 healthy individuals were enrolled in the final analysis, including 576 males (26.6%) and 1 587 females (73.4%). The fractional polynomial regression of the CIMT mean and standard deviation was obtained. For men, the regression was mean_CIMT=0.324 7+0.006 9×age and SD_CIMT=0.076 9+0.001 2×age. For women, the regression was mean_CIMT=0.354 9+0.005 4×age and SD_CIMT=0.041 6+0.002 0×age. Conclusion: The age and sex reference values for CIMT of adult people in Shenzhen established in this study could provide the latest reference standards for early screening of subclinical CVD.
Male ; Humans ; Adult ; Female ; Carotid Intima-Media Thickness ; Cardiovascular Diseases ; Reference Values ; Carotid Arteries/diagnostic imaging* ; Ultrasonography, Carotid Arteries ; Risk Factors ; Carotid Artery Diseases

Aim To investigate the effects of total flavonoids from Rosa rugosa (TFR) on cerebral ischemia reperfusion injury (CIRI) in rats, and to investigate whether TFR inhibited neuronal apoptosis by regulating phosphoinositide 3-kinase/protein kinase B (PI3K/AKT) signaling pathway and endoplasmic reticulum stress (ERS) pathways. Methods SD rats were randomly divided into sham operation group, model group, low-dose group (50 mg · kg

OBJECTIVE Corona-virus disease 2019 (COVID-19) is an infectious disease caused by SARS-CoV-2 virus. The variant of corona-virus first identified in India, known as Delta, has become the dominant strain in China. Unfortunately, more conta-gious and unknown variants are coming, leading to a number of close contacts under quarantine. Chinese medicine (TCM) has been recommended to prevention and treatment due to the satisfactory therapeutic effects. However, the effect of TCM to decrease positive rate in close contacts remains unknown. METHODS We conducted an retrospective cohort study in Yangzhou, China to assess the effect of Chinese medicine on decreasing positive rate in close contacts under quarantine. The primary observation outcome was positive rate of Nucleic Acid Amplification Tests (NAATs). The secondary observation outcome was a composite of viral load of positive NAATs, severity levels of confirmed cases (asymptomatic, mild, moderate, or severe), daily body temperature, and levels of close contact (primary or secondary). RESULTS A total of 1286 subjects were collected, of which 1016 (79.00％) in TCM group and 270 (21.00％) in control group with 55 participants tested positive. The incidence of the primary outcome, positive rate of NAATs was significantly lower in the Chinese medicine group than in the control group, occurring in male and age≥60 years subjects. Multi-varia-ble logistic regression (excluding NO viral load) indicated that the risk of testing positive was reduced by 0.547 times in TCM groupcompared to control group. CT value of TCM group was higher than that of control group in all subjects and female subjects, and the re-sult showed statistically significant difference. CONCLUSIONS In our study involving close contacts under quarantine, Chinese medicine resulted in lower positive rate of NAATs and viral load than control.

Azoospermia patients who carry a monogenetic mutation that causes meiotic arrest may have their biological child through genetic correction in spermatogonial stem cells (SSCs). However, such therapy for infertility has not been experimentally investigated yet. In this study, a mouse model with an X-linked testis-expressed 11 (TEX11) mutation (Tex11
Adult Germline Stem Cells/metabolism* ; Animals ; Azoospermia/genetics* ; Infertility, Male/therapy* ; Male ; Mice ; Mutation/genetics* ; Spermatogenesis/genetics*

The issues of disordering production and non-standard pesticide application are common in the production of Chinese herbal medicines. Aimed to above problems, research groups built the pollution-free and precision cultivation system of medicinal plants. This system mainly included the precise site selection of medicinal plants based on the GIS technology, modern omics-assisted breeding, metagenomics guiding the soil complex improvement, and the precise field management based on rational application of fertilizer and comprehensive control of disease. At present, the production and distribution of medicinal plants were performed in the many poor counties of the whole nation. The breeding platform of resistant varieties was built, and certificates of new and well-bred varieties were received, in the base of genetic backgrounds of the original species of medicinal plants. The disease incidences were declined after application of these resistant varieties. Additionally, chemical pesticide consumption of medicinal plants (such as Panax ginseng, P. notoginseng, Salvia miltiorrhiza, P. quinquefolium, Schisandra chinensis, Platycodon grandiflorum and P. grandiflorus etc.) reduced by 20%-80% based on the genetic testing technologies of plant diseases and insect pests and safety evaluation of pollution-free pesticides. The application of pollution-free and precision cultivation system of Chinese herbal medicines achieve significantly social, economic and ecological benefits.

Objectives: To analyze and understand the risk factors related to HIV new infections among men who have sex with men (MSM). Methods: A longitudinal observational study among MSM was conducted to collect information on HIV related behaviors and sero-conversion. Univariate and multivariate generalized estimating equations (GEE) were used to discuss the risk factors for HIV new infection. Results: A total number of 4 305 MSM were followed during 2013-2015. Among those self-reported MSM who are seeking partners on the Interner tended to have higher proportion on receptive anal intercourse and consistent condom use during anal intercourse than the subgroups seeking their partners in gay bars or bathrooms. HIV incidence among followed MSM during the study period appeared as 4.3/100 person years, with adjusted RR (aRR) of HIV infection for receptive anal intercourse as group 2.20 (95% CI: 1.49-3.24) times than that of insertion anal intercourse group. Those who used rush-poppers (aRR=1.55, 95% CI: 1.10-2.17), unprotected anal intercourse (aRR=2.24, 95%CI: 1.62-3.08), and those with syphilis infection (aRR=2.95, 95%CI: 2.00-4.35) were also risk factors for HIV new infections. After controlling other factors, the relationship between the ways of seeking partners and HIV new infection was not statistical significant. Conclusion: Risk factors for HIV new infection among MSM appeared complex and interactive, suggesting that further studies are needed to generate tailored strategies for the prevention of HIV epidemic among MSM population.
Adult ; Cohort Studies ; HIV Infections/diagnosis* ; Homosexuality, Male ; Humans ; Incidence ; Male ; Risk Factors ; Risk-Taking ; Sexual Behavior ; Sexual Partners ; Sexual and Gender Minorities ; Surveys and Questionnaires ; Unsafe Sex