OBJECTIVES: To investigate the ethnic origin of Chuanqing people, one of the largest unidentified ethnic groups in Guizhou, China, and analyze its genetic relationships with surrounding populations. METHODS: Based on a self-developed microhaplotype system, we conducted genotyping and analyzed the genetic distribution of microhaplotype loci and their forensic applicability in Chuanqing population in Guizhou Province. Using the microhaplotype data from different intercontinental populations and previously reported data from Han population living in Guizhou Province, we systematically investigated the genetic background of Chuanqing people through population genetic approaches, including genetic distance estimation, principal component analysis, and phylogenetic tree construction. RESULTS: Among the studied population, the number of haplotype per microhaplotype ranged from 6 to 25. The average expected heterozygosity (He), observed heterozygosity (Ho), power of discrimination (PD), and probability of exclusion (PE) were 0.8291, 0.8301, 0.9387, and 0.6593, respectively. The cumulative power of discrimination (CPD) and cumulative probability of exclusion (CPE) for these 33 loci were 1-2.62×10^-41 and 1-7.64×10^-17, respectively. Population genetic analyses revealed that the Chuanqing population had close genetic relationships with the East Asian populations, especially the local Guizhou Han population, Beijing Han population and the Han populations living in southern China. CONCLUSIONS The 33 microhaplotypes exhibit high levels of genetic diversity in the Guizhou Chuanqing population, highlighting their potentials for both forensic identification and parentage testing. The Han populations might have contributed a significant amount of genetic material to the Chuanqing population during the formation and development of the latter.
Humans ; China/ethnology* ; Ethnicity/genetics* ; Forensic Genetics/methods* ; Genetics, Population ; Genotype ; Haplotypes ; Phylogeny ; East Asian People/genetics*

Objective To analyze the epidemiological characteristics of lung cancer death in Gansu Province, and to provide a theoretical basis for formulating the prevention and control measures of lung cancer. Methods The lung cancer death data from national monitoring sites in Gansu Province from 2014 to 2023 were selected. Excel2013 and SPSS17.0 were used to calculate lung cancer mortality, standardized mortality, potential years of life lost (PYLL), potential years of life lost rate, standardized potential years of life lost rate, and average years of life lost (AYLL). The annual percent change (APC) of the crude lung cancer mortality rate and standardized mortality rate was calculated using Joinpiont 4.8.0.1 software. The mortality difference decomposition method was used to analyze demographic and non-demographic factors. Results From 2014 to 2023, the crude mortality rate of lung cancer among the residents of the monitoring sites in Gansu Province showed an increasing trend. The mortality rate of males was higher than that of females. The mortality rate in urban areas was higher than that in rural areas. The population structure was the main factor leading to the increase of lung cancer mortality rate in urban areas, while other non-demographic factors were the main factors leading to the increase of lung cancer mortality rate in rural areas. The crude lung cancer mortality rate was low at the age of < 30, and then the mortality rate increased with age. Lung cancer PYLL was higher in males than in females, and AYLL was higher in females than in males. Conclusion The mortality rate of lung cancer in the monitoring sites in Gansu Province is on the rise. The urban areas and male population are the key areas and groups for intervention. It is suggested to further strengthen the early screening and intervention of lung cancer to reduce the mortality rate of lung cancer.

This paper introduces the academic characteristics of Professor ZHANG Ren in treatment with acupuncture for refractory eye diseases in modern times, guided by "homotherapy for heteropathy" (same therapy for different diseases sharing the same pathogenesis). The refractory eye diseases in modern times include a variety of conditions such as glaucoma, macular degeneration, diabetic retinopathy, high myopia and its complications, dry eye, cortical visual impairment and genetic eye diseases. The same therapy is used because these diseases share the similar location and pathogenesis. Professor ZHANG optimizes the methods of acupoint selection and provides the comprehensive prescriptions, "basic prescription, prescription based on disease differentiation, and supplementary prescription". A variety of acupuncture manipulation techniques are operated in clinical practice, such as compound needling methods, penetration needling, manipulations for promoting qi movement and conducting qi flow. "Early, regular and persistent" treatment is the common requirement with "the same acupoints, the same prescription and the same acupuncture method" as well as at "the same time". It is also proposed that the treatment should be provided flexibly according to the different symptoms, "identifying the differences within similarities".
Acupuncture Therapy/methods* ; Humans ; Eye Diseases/history* ; Acupuncture Points ; History, 20th Century ; China ; History, 21st Century

Under the current situation of "low prevalence and low infection" of schistosomiasis in China, and to provide a basis for achieving the goal of eliminating schistosomiasis by 2030 proposed by the Healthy China Action (2019 - 2030) as scheduled, the Hunan Provincial Corps Hospital of the Chinese People's Armed Police Force established a schistosomiasis monitoring and early warning index system based on the previous studies on schistosomiasis early warning index system and the recent literature analysis, combined with the current potential risk factors affecting the transmission and prevalence of schistosomiasis, and organized two rounds of expert consultation and carried out project promotion meetings. The experts reached a consensus on the comprehensiveness and practicability of the index system, aiming to lay a solid foundation for construction of China's schistosomiasis prevention and control early warning system.

Under the current situation of "low prevalence and low infection" of schistosomiasis in China, and to provide a basis for achieving the goal of eliminating schistosomiasis by 2030 proposed by the Healthy China Action (2019 - 2030) as scheduled, the Hunan Provincial Corps Hospital of the Chinese People's Armed Police Force established a schistosomiasis monitoring and early warning index system based on the previous studies on schistosomiasis early warning index system and the recent literature analysis, combined with the current potential risk factors affecting the transmission and prevalence of schistosomiasis, and organized two rounds of expert consultation and carried out project promotion meetings. The experts reached a consensus on the comprehensiveness and practicability of the index system, aiming to lay a solid foundation for construction of China's schistosomiasis prevention and control early warning system.

Objective:To assess the value of optical genome mapping (OGM) for the detection of chromosomal structural abnormalities including ring chromosomes, balanced translocations, and insertional translocations.Methods:Clinical data of four patients who underwent pre-implantation genetic testing concurrently with OGM and chromosomal microarray analysis at the Center of Reproductive Medicine of the Sixth Affiliated Hospital of Sun Yat-sen University from January to October 2022 due to chromosomal structural abnormalities were selected as the study subjects. Some of the results were verified by multi-color fluorescence in situ hybridization. Results:The OGM has successfully detected a balanced translocation and fine mapped the breakpoints in a patient. Among two patients with insertional translocations, OGM has provided more refined breakpoint locations than karyotyping analysis in a patient who had chromosome 3 inserted into chromosome 6 and determined the direction of the inserted fragment. However, OGM has failed to detect the chromosomal abnormalit in a patient with chromosome 8 inserted into the Y chromosome. It has also failed to detect circular signals in a patient with ring chromosome mosaicism.Conclusion:OGM has successfully detected chromosomal structural variations in the four patients and provided assistance for their diagnosis.

Objective:To compare the results of invasive prenatal diagnosis and preimplantation genetic testing (PGT) and explore the underlying mechanism.Methods:Clinical data of pregnant women undergoing PGT and invasive prenatal diagnosis at the Sixth Affiliated Hospital of Sun Yat-sen University from January 2019 to December 2022 were collected. The results of PGT and invasive prenatal diagnosis were compared, and the outcomes of pregnancies were followed up. This study has been approved by the Medical Ethics Committee of the the Sixth Affiliated Hospital of Sun Yat-sen University (No. 2022SLYEC-491).Results:A total of 172 couples were included in this study, and 26 non-targeted variants were discovered upon prenatal diagnosis, including 10 cases (38.5%) by chromosomal karyotyping, 15 (57.7%) by chromosomal microarray analysis (CMA), and 1 (3.8%) by whole exome sequencing. The 10 karyotypic anomalies had included 6 chromosomal polymorphisms, 2 chromosomal mosaicisms, 1 paternally derived translocation, and 1 missed maternal chromosomal inversion. CMA has identified 15 copy number variations (CNVs), which included 11 microdeletions and microduplications, 3 loss of heterozygosity, and 1 low-level mosaicism of paternal uniparental disomy. One CNV was classified as pathogenic, and another one was likely pathogenic, whilst the remaining 13 were classified as variants of uncertain significance. Therefore, 8.7% of CNVs was detected by invasive prenatal diagnosis after PGT. 92.3% (24/26) of the non-targeted variants have been due to technological limitations of next-generation sequencing (NGS).Conclusion:Invasive prenatal diagnosis after PGT can detect non-targeted variants, which may further reduce the incidence of birth defects.

ObjectiveTo evaluate the effectiveness of Lutongning granules in the treatment of trigeminal neuralgia in animal models and study its mechanism of action， so as to provide laboratory data support for the clinical application of Lutongning granules and precise treatment. MethodMale SD rats were randomly divided into normal group， model group， carbamazepine group （0.06 g·kg^-1·d^-1）， high-dose Lutongning group （2.70 g·kg^-1·d^-1）， and low-dose Lutongning group （1.35 g·kg^-1·d^-1） according to the stratified basic mechanical pain thresholds， with 10 rats in each group. A trigeminal neuralgia model of rats was prepared by injecting 30% talc suspension into the infraorbital foramen area of the rat. The drug groups were administered 10 mL·kg^-1 of drugs by gavage after 2 h of modeling. The normal group and the model group were administered distilled water by gavage under the same conditions once a day for 10 consecutive days. Von Frey brushes were used to determine the mechanical pain threshold of rats. A fully automated blood and body fluid analyzer was employed to detect the blood routine of rats. Hematoxylin and eosin （HE） staining was utilized to detect the pathological changes in the trigeminal ganglion and medulla oblongata tissue. Transmission electron microscopy was used to scan the ultrastructure of the medulla oblongata tissue. Enzyme-linked immunosorbent assay （ELISA） was used to detect the levels of inflammatory factors interleukin （IL）-1， IL-6， IL-8， tumor necrosis factor （TNF）-α， neuropeptide substance P， and β-endorphins （β-EP） in the serum of rats， and Western blot was used to detect the protein expression levels of IL-1β， purinergic receptor P2X7 （P2X7R）， and phosphorylated p38 mitogen-activated protein kinase （p-p38 MAPK）. ResultCompared with that in the normal group， the pain threshold of rats in the model group was significantly lower （P<0.01）. The absolute value of neutrophils （NEUT#） and the percentage of neutrophils （NEUT） were significantly improved， and the percentage of lymphocytes （LYMPH） was significantly reduced （P<0.01）. The serum levels of IL-1， IL-6， IL-8， and TNF-α were significantly increased （P<0.01）. SP content in brain tissue was significantly increased， and β-EP content was significantly decreased （P<0.01）. The relative protein expression of IL-1β， P2X7R， and p-p38 MAPK was significantly increased （P<0.05）. HE staining and transmission electron microscopy results of medulla oblongata tissue revealed neuronal degeneration， mild proliferation of microglial cells， reduction in the number of myelinated nerves， and obvious demyelination. The trigeminal nerve fibers of rats were disarranged， and some nerve fibers showed vacuolization. Axons were swollen， and Schwann cells proliferated. Demyelination was observed. Compared with the model group， each administration group significantly increased the pain threshold of rats （P<0.05， P<0.01）， reduced NEUT# and NEUT， and elevated LYMPH （P<0.05， P<0.01）. The administration group significantly decreased the levels of IL-1， IL-6， IL-8， and TNF-α in serum and SP in brain tissue （P<0.01） and increased the level of β-EP （P<0.01）. They significantly down-regulated the protein expression of IL-1β， P2X7R， and p-p38 MAPK（P<0.05， P<0.01） and significantly ameliorated the pathological changes in medulla oblongata tissue and trigeminal nerves of rats. ConclusionLutongning Granules had significant therapeutic effects on trigeminal neuralgia induced by injection of talc into the infraorbital foramen of model rats， and the mechanism may be related to amelioration of P2X7R-mediated neuroinflammation and inhibition of demyelination of myelinated nerves.

Objective:To retrieve, evaluate, and integrate evidence related to balance function management in stroke patients with hemiplegia.Methods:A systematic search was conducted on BMJ Best Practice, UpToDate, National Institute for Health and Care Excellence, Guidelines International Network, Scottish Intercollegiate Guidelines Network, Australia Joanna Briggs Institute Evidence-Based Practice Center, Embase, Cochrane Library, China National Knowledge Infrastructure, Wanfang Data, VIP, China Biology Medicine disc, PubMed, Web of Science, Medlive, and other websites or data platforms for relevant guidelines, best practices, evidence summaries, systematic reviews, and Meta-analyses on balance function management in stroke patients with hemiplegia, with a retrieval period from March 2014 to March 2024. Two researchers trained in evidence-based practices evaluated the methodological quality of the literature and extracted and summarized the relevant evidence.Results:Based on the inclusion and exclusion criteria, a total of eight guidelines and seven systematic reviews were included, yielding 29 pieces of best evidence across nine aspects: the importance of balance function training, organizational management, assessment tools, assessment timing, assessment content, assessment frequency, balance exercise programs, exercise duration, and health education.Conclusions:This study summarizes the best evidence for balance function management in stroke patients with hemiplegia, providing accurate evidence-based support for clinical practice among medical professionals. It is recommended that healthcare providers appropriately apply this evidence based on clinical scenarios to improve measures related to balance function management in stroke patients with hemiplegia.

Objective To construct a risk prediction model by integrating the molecular subtypes of pan-creatic ductal adenocarcinoma(PDAC)and immune-related genes.Methods With GSE71729 data set(n=145)as the training set,the differentially expressed genes and differential immune-related genes between the squamous and non-squamous subtypes of PDAC were integrated to construct a regulatory network,on the basis of which five immune marker genes regulating the squamous subtype were screened out.An integrated immune score(IIS)model was constructed based on patient survival information and immune marker genes to predict the clinical prog-nosis of PDAC patients,and its predictive performance was tested with 5 validation sets(n=758).Results PDAC patients were assigned into high risk and low risk groups according to the IIS.In both training and validation sets,the overall survival of patients in the high risk group was shorter than that in the low risk group(both P＜0.001).The multivariable Cox regression showed that IIS was an independent prognostic factor for PDAC(HR=2.16,95％CI=1.50-3.10,P＜0.001).Conclusion IIS can be used for risk stratification of PDAC patients and may become a potential prognostic marker for PDAC.