1.Clinical and genetic analysis of a child with 46,XX male phenotype due to SOX3 gene duplication.
Xiou WANG ; Fuying SONG ; Ziqin LIU ; Pengchao WANG ; Mu DU ; Yi SONG ; Shuyue HUANG ; Bingyan CHAO
Chinese Journal of Medical Genetics 2026;43(1):50-56
OBJECTIVE:
To summarize the clinical and genetic characteristics of a child with 46,XX Ovotesticular disorder of sex development (46,XX OTDSD) due to copy number variation of SOX3 gene.
METHODS:
A 46,XX male patient presented at the Capital Center for Children's Health, Capital Medical University in November 2024 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples were taken from the child and his parents and subjected to trio whole-genome sequencing. Skewed X-chromosome inactivation was tested in the child and his mother. A literature review was carried out on 46,XX males associated with mutations of the SOX3 gene. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: SHERLL2025056).
RESULTS:
The 10-year-old boy presented with hypospadias and cryptorchidism at birth. Chromosome analysis at one year and a half revealed a 46,XX karyotype. Gonadal biopsy showed testicular tissue, while ultrasound at the age of 10 detected ovotesticular tissue. Whole-genome sequencing identified a 660 kb duplication in the Xq27.1 region, which was derived from his mother. X-chromosome inactivation testing showed random inactivation in the child and mild non-random inactivation in the mother. Literature review has found 11 publications involving 15 patients (including our case), among whom 14 had a male social gender. They had primarily presented with hypospadias at birth but had no significant endocrine abnormalities. Most patients had experienced testicular failure after puberty. SOX3 related 46,XX males are mainly caused by de novo duplications, although a few maternal carriers had been discovered.
CONCLUSION
Duplication of the SOX3 gene probably underlay the pathogenesis is this 46,XX male. Individuals with 46,XX SRY negative male phenotypes should be routinely screened for SOX3 gene variants. Structural variations of the SOX3 gene can lead to complete or partial sex reversal in 46,XX individuals with minimal impact on intellectual and motor development, as well as other endocrine hormones.
Child
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Humans
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Male
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46, XX Disorders of Sex Development/genetics*
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DNA Copy Number Variations
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Gene Duplication
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Phenotype
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SOXB1 Transcription Factors/genetics*
2.Genetic analysis and prenatal diagnosis of structural brain abnormalities associated with TUBB gene c.155A>G variant.
Yifan LIU ; Wei SONG ; Xinlian WANG ; Yan RUAN ; Meng ZHANG ; Yujiao CHEN ; Yan LIU ; Puqing ZHANG ; Li WANG ; Yousheng YAN
Chinese Journal of Medical Genetics 2026;43(2):136-142
OBJECTIVE:
To explore the genotype-phenotype correlation in a Chinese family with structural brain abnormalities due to variant of the TUBB gene.
METHODS:
A family undergoing prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital in October 2024 was selected as the study subject. Clinical data were collected. Amniotic fluid sample was subjected to chromosomal copy number variation sequencing (CNV-seq). Trio whole-exome sequencing (Trio-WES) was carried out on the amniotic fluid and parental blood samples, and candidate variant was verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2023-KY-076-01).
RESULTS:
Both prenatal ultrasound and fetal MRI showed deviation of brain midline, unilateral lateral ventriculomegaly, and bilateral gyral asymmetry. Trio-WES revealed that the fetus has harbored a maternally derived heterozygous missense variant of the TUBB gene [NM_178014.4: c.155A>G (p.N52S)]. Sanger sequencing confirmed that the woman and a previously terminated fetus both harbored the same variant. Both the proband and two fetuses exhibited similar neuroimaging abnormalities including midline deviation and asymmetrical gyri. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_Supporting+PS2_Moderate+PS3).
CONCLUSION
The heterozygous c.155A>G (p.N52S) variant was the TUBB gene probably underlay the pathogenesis of the structural brain abnormalities in this family. Above findings have expanded the phenotypic spectrum associated with the variant and facilitated the prenatal diagnosis for this family.
Humans
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Female
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Pregnancy
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Prenatal Diagnosis
;
Tubulin/genetics*
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Adult
;
Brain/diagnostic imaging*
;
Male
;
Pedigree
;
DNA Copy Number Variations/genetics*
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Exome Sequencing
;
Genetic Association Studies
;
Magnetic Resonance Imaging
3.Textual Research on Key Information of Classic Famous Formula Dabuyuanjian
Yixuan HU ; Suhua SONG ; Yu WANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(11):23-33
Dabuyuanjian is one of the classic famous formulas in the Catalog of Ancient Classic Famous Formulas (Second Batch)-Medicine of Han Ethnic Group. It consists of Ginseng Radix et Rhizoma, Dioscoreae Rhizoma, Rehmanniae Radix Praeparata, Eucommiae Cortex, Angelicae Sinensis Radix, Corni Fructus, Lycii Fructus, and Glycyrrhizae Radix et Rhizoma Praeparata cum Melle, and is used to treat the symptoms of men and women who have a great loss of Qi and blood and a critical and dramatic loss of spiritual guardianship. This study reviewed the ancient and modern literature, and used literature tracing and bibliometrics methods to mine the key information of the historical origin, formula name, drug composition, compatibility, drug dosage, original plants and processing of drugs, decocting method, and clinical application of Dabuyuanjian. The results showed that Dabuyuanjian was first recorded in the Jing Yue's Collected Works (Jing Yue Quan Shu), with the dosage mainly following the original formula. According to the dosage in the Ming and Qing dynasties, the formula is composed of 5.60 g (for mild cases)/39.17 g (for severe cases) Ginseng Radix et Rhizoma, 7.46 g Dioscoreae Rhizoma, 9.32 g (for mild cases)/ 93.25 g (for severe cases) Rehmanniae Radix Praeparata, 7.46 g Eucommiae Cortex, 9.32 g Angelicae Sinensis Radix, 3.73 g Corni Fructus, 9.32 g Lycii Fructus, and 5.60 g Glycyrrhizae Radix et Rhizoma Praeparata cum Melle. Regarding the original plants of drugs, Ginseng Radix et Rhizoma is produced from the dried roots and rhizomes of Panax ginseng, Dioscoreae Rhizoma from stir-fried dried rhizomes of Dioscorea opposita, Rehmanniae Radix Praeparata from steamed dried roots of Rehmannia glutinosa, Eucommiae Cortex from the dried bark of Eucommia ulmoides, Angelicae Sinensis Radix from the dried roots of Angelica sinensis, Corni Fructus from the dried mature fruit flesh of Cornus officinalis, Lycii Fructus from the dried mature fruits of Lycium barbarum, and Glycyrrhizae Radix et Rhizoma Praeparata cum Melle from the honey-processed dried roots and rhizomes of Glycyrrhiza uralensis. These medicinal materials are decocted in 400 mL water to reach a volume of 140 mL, and the decoction should be taken 1 h after meals, 2-3 doses per day. Dabuyuanjian has a wide range of clinical applications, including gynecological and obstetrical diseases, deficiency, baffling and panic, consumptive thirst, and blood, ear, nose, and throat diseases. In modern clinical practice, it is mainly used for diseases of the nervous system, gynecology, urinary system, cardiovascular system, digestive system, musculoskeletal system, connective tissue, immune system, blood, and men. Through the review of ancient and modern literature, this study sorted out the historical evolution and mined the key information of Dabuyuanjian, aiming to provide a theoretical reference for safe and effective clinical application and subsequent research and development of this formula.
4.Heat-clearing and Toxin-removing Method Reduces Ischemic Stroke Injury by Protecting Endothelial-pericyte and Inhibiting Macrophage Migration
Zijin SUN ; Haojia ZHANG ; Kai WANG ; Zhaoyi WANG ; Linjing SONG ; Wenxiu XU ; Jing JI ; Changxiang LI ; Qingguo WANG ; Xueqian WANG ; Fafeng CHENG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(11):56-67
ObjectiveTo investigate the regulatory effects of Huanglian Jiedutang (HLJDT) on immune cell migration, blood-brain barrier protection, and cellular functional recovery in a model of ischemic stroke. MethodsA transient middle cerebral artery occlusion (tMCAO) model was established in mice to induce ischemic stroke. Cerebral blood flow and neurological function were evaluated using laser speckle imaging and neurological deficit scoring. Histopathological damage in brain tissues was assessed by hematoxylin-eosin (HE) and Nissl staining. Mice were divided into a sham group, a model group, an HLJDT group, and a Ginkgo biloba extract (GBE) group. After one week of acclimatization, intragastric administration was initiated. The sham and model groups received normal saline, the HLJDT group received HLJDT at 1.82 g·kg-¹, and the GBE group received GBE at 0.432 g·kg-¹. Administration was continued for 5 consecutive days, and the tMCAO model was established after the final dose on day 6. Single-cell RNA sequencing was performed on brain tissues and peripheral immune cells. UMAP and odds ratio (OR) indices were used to analyze cell distribution. Differential expression analysis was conducted to evaluate the effects of HLJDT on endothelial cells, pericytes, and macrophages, combined with CellChat and decoupler to analyze cell-cell communication and transcription factor regulation. Finally, PCR and ELISA were used to validate the mRNA and protein expression of relevant genes. ResultsCompared with the sham group, the model group showed significantly increased neurological deficit scores (P<0.01) and significantly decreased cerebral blood flow (P<0.01), accompanied by cortical structural disorder, aggravated cytoplasmic vacuolization, and increased numbers of Nissl bodies. Compared with the model group, both the HLJDT and GBE groups exhibited significantly reduced neurological deficit scores (P<0.01) and markedly improved cerebral blood flow (P<0.01), along with amelioration of cortical structural disorder, alleviated cytoplasmic vacuolization, and reduced numbers of Nissl bodies. Single-cell analysis showed that HLJDT protected endothelial cells and pericytes by preventing their reduction, restored the expression of functional genes in these cells (e.g., PECAM1 and NOS3), and downregulated the expression of chemokines and adhesion-related factors (e.g., CCL2 and CXCL2). In macrophages, HLJDT reduced their recruitment to the central nervous system and downregulated the expression of chemokine receptors and inflammatory factors (e.g., IL-6, CCR2, and CXCR2). Cell-cell communication analysis further indicated that HLJDT, through the above mechanisms, alleviated damage to pericytes and endothelial cells, reduced their recruitment of macrophages, and decreased ligand-receptor interactions in chemokine signaling pathways (including CCL, CXCL, and CSF3) between pericytes/endothelial cells and macrophages, thereby preventing secondary injury. Compared with the sham group, the model group showed significantly upregulated mRNA expression levels of IL-1β, IL-6, TNF-α, CCL2, CXCL2, and CSF3 (P<0.01), while mRNA expression levels of endothelial- and pericyte function-related genes (RGS5, PECAM1, VEGFB, and NOS3) were significantly downregulated (P<0.01). In contrast, compared with the model group, the HLJDT and GBE groups exhibited significantly decreased mRNA expression levels of IL-1β, IL-6, TNF-α, CCL2, CXCL2, and CSF3 (P<0.01), and significantly increased expression of RGS5, PECAM1, VEGFB, and NOS3 (P<0.01). At the protein level, compared with the sham group, the model group showed significantly increased expression of IL-1β, IL-6, and TNF-α (P<0.01), whereas these protein levels were significantly reduced in the HLJDT and GBE groups compared with the model group (P<0.01). ConclusionHLJDT reduces neuronal damage in ischemic stroke by protecting endothelial cells and pericytes, while inhibiting their interaction with macrophages, thereby mitigating secondary injury in the central nervous system.
5.Exploring Mechanism of Chaihu Jia Longgu Mulitang in Depressive-like Rats via AMPK/SIRT1/NF-κB/NLRP3 Signaling Pathway
Guang WANG ; Xinhua SONG ; Jie YANG ; Jinyao XU ; Junhua MEI ; Chao CHEN ; Guohua CHEN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(11):144-152
ObjectiveTo investigate the effects of Chaihu Jia Longgu Mulitang(CJLM) on depression-like behaviors and neuroinflammation in rats subjected to social isolation combined with chronic unpredictable mild stress(CUMS), and to explore the potential underlying mechanisms. MethodsSixty male SD rats were randomly divided into a normal group, a model group, and low-, medium-, and high-dose CJLM groups(2.89, 5.78, 11.56 g·kg-1), as well as a fluoxetine group(10 mg·kg-1). Except for the normal group, all other groups were subjected to social isolation combined with CUMS for 63 d. During the first 35 d, depression models were established only, and from day 36 onward, modeling and drug administration were conducted simultaneously for a total intervention period of 28 d. Depression-like behaviors were evaluated using the sucrose preference test, open-field test, and forced swimming test. Hematoxylin-eosin(HE) staining was performed to observe hippocampal histomorphology. Immunohistochemistry(IHC) was used to detect the expression levels of ionized calcium-binding adapter molecule 1(Iba1) and gasdermin D(GSDMD) proteins in the hippocampus. Western blot analysis was employed to determine the protein expression levels of adenosine 5′-monophosphate(AMP)-activated protein kinase(AMPK) and phosphorylated(p)-AMPK, silent information regulator 1(SIRT1), nuclear factor-κB(NF-κB) and p-NF-κB, NOD-like receptor protein 3(NLRP3), and Caspase-1 in the hippocampus. Real-time quantitative polymerase chain reaction(Real-time PCR) was used to detect the mRNA expression levels of tumor necrosis factor-α(TNF-α), interleukin(IL)-6, and IL-1β in the hippocampus. ResultsCompared with the normal group, the model group showed a decreased sucrose preference rate(P<0.01), reduced total movement distance(P<0.01), prolonged immobility time(P<0.01), and decreased central zone residence time(P<0.01) in the open-field test, and increased immobility time in the forced swimming test(P<0.01). Hippocampal neuronal structure was damaged. The contents of Iba1 and GSDMD in the hippocampus were significantly increased(P<0.01). The protein expression levels of p-AMPK and SIRT1 in the hippocampus were significantly decreased(P<0.01), whereas the protein expression levels of p-NF-κB, NLRP3, and Caspase-1 were significantly increased(P<0.01). The mRNA expression levels of IL-1β, IL-6, and TNF-α in the hippocampus were significantly upregulated(P<0.01). Compared with the model group, the low-, medium-, and high-dose CJLM groups and the fluoxetine group all were able to reverse depression-like behavioral changes, as evidenced by increased sucrose preference rate, increased total movement distance with shortened immobility time in the open-field test, prolonged central zone residence time, and reduced immobility time in the forced swimming test(P<0.05, P<0.01). Meanwhile, hippocampal neuronal structural damage was alleviated. In the hippocampus, the expression levels of Iba1 and GSDMD were downregulated, the expression levels of p-AMPK and SIRT1 were upregulated, and the abnormal elevations of p-NF-κB, NLRP3, Caspase-1, as well as IL-1β, IL-6, and TNF-α mRNA were suppressed(P<0.05, P<0.01). ConclusionCJLM can ameliorate depression-like behaviors in rats subjected to social isolation combined with CUMS and attenuate hippocampal neuroinflammation and pyroptosis, suggesting that its effects may be associated with the regulation of AMPK/SIRT1/NF-κB/NLRP3 signaling pathway.
6.Metabolomics Reveals Mechanism of Abelmoschi Corolla Total Flavonoids in Regulating Endoplasmic Reticulum Stress in IgA Nephropathy
Shuying SONG ; Changqing WEN ; Luwan XING ; Yan ZHANG ; Haitao GE ; Fujiang WANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(11):153-161
ObjectiveTo elucidate the mechanism by which total flavonoids of Abelmoschi Corolla (TFA) treat immunoglobulin A (IgA) nephropathy (IgAN) through serum metabolomics analysis. MethodsSPF-grade male SD rats were randomly assigned into six groups (n=10): blank, model, low-dose TFA (TFA-L, 27 mg·kg-1), medium-dose TFA (TFA-M, 54 mg·kg-1), high-dose TFA (TFA-H, 108 mg·kg-1), and losartan potassium (LST, 4.5 mg·kg-1) groups. The remaining five groups, excluding the blank group, were modeled with bovine serum albumin (BSA), lipopolysaccharide (LPS), and carbon tetrachloride (CCl4). Specifically, from weeks 1 to 10, BSA was administered via gavage every other day, and a mixture of castor oil and CCl4 was injected subcutaneously once a week, with LPS injected into the tail vein at weeks 6 and 8. After successful modeling, each intervention group was administrated with the medication prepared with distilled water once daily by gavage for a continuous period of 4 weeks. The levels of 24-hour urinary total protein (24 h UP) and serum creatinine (SCr) were quantified by kits, and the serum IgA level was determined by enzyme-linked immunosorbent assay (ELISA). Renal pathological changes were observed by hematoxylin-eosin (HE) staining and periodic acid-Schiff (PAS) staining. Renal IgA deposition was assessed by immunofluorescence (IF). Endoplasmic reticulum (ER) stress was observed by transmission electron microscopy. Western blot and immunohistochemistry (IHC) were employed to detect the expression of ER stress-related factors. Non-targeted metabolomics was used to screen differential metabolites for analysis, and key metabolites arachidonic acid (AA), prostaglandin E2 (PGE2), and cyclooxygenase-2 (COX-2) were validated. ResultsCompared with the blank group, the model group showed increased 24-hour urine protein (24 h UP) and serum creatinine (SCr) levels (P<0.01), obvious renal pathological damage, elevated serum IgA level (P<0.01), increased renal AA and PGE2 levels (P<0.01), and up-regulated protein levels of COX-2, glucose-regulated protein 78 (GRP78), phosphorylated eukaryotic initiation factor 2α (P-EIF2α), activating transcription factor 4 (ATF4), inositol-requiring enzyme 1α (IRE1α), and spliced X-box binding protein 1 (XBP1s) in the renal tissue (P<0.05, P<0.01). Compared with the model group, the intervention groups showed reductions in 24 h UP and SCr levels (P<0.05, P<0.01), alleviated renal pathological injury, decreased serum IgA level (P<0.05, P<0.01), and reduced renal AA and PGE2 levels (P<0.01). Western blot and IHC results showed that TFA reduced the levels of COX-2, GRP78, P-EIF2α, ATF4, IRE1α, and XBP1s in the renal tissue (P<0.05, P<0.01). Metabolomics results indicated that 51 commonly differential metabolites were found among the normal, model, and TFA-M groups. TFA ameliorated IgAN by affecting metabolic pathways related to the biosynthesis of arachidonic acid and arginine through L-aspartic acid, prostaglandin 2α, leukotriene B4, leukotriene D4, among others. ConclusionTFA can regulate the arachidonic acid metabolism pathway, thereby modulating ER stress, reducing renal damage, and ameliorating IgA nephropathy.
7.Correlation of social anxiety and emotion regulation strategy with short video addiction in college students
WANG Wenting, ZHANG Zhonglou, SONG Jinqiu, XU Haipeng, RUAN Jie
Chinese Journal of School Health 2026;47(4):548-552
Objective:
To explore the relationship of social anxiety and emotion regulation strategy with short video addiction among college students, so as to provide reference for alleviating social anxiety, improving the level of emotion regulation and preventing short video addiction.
Methods:
From May to June 2024, 2 172 college students from a university in Guangzhou were selected by multistage random cluster sampling method. The Interaction Anxiousness Scale, Emotion Regulation Questionnaire and Short Video Addiction Scale were used as the measurement tools. The potential profile was used to analyze the potential categories of social anxiety and emotion regulation strategy. The Chi square test was used to analyze the characteristics of the distribution of potential profile categories of college students with different demographic characteristics. Multiple linear regression analysis was used to analyze the relationship between social anxiety, emotion regulation strategy and short video addiction.
Results:
The potential categories of social anxiety and emotion regulation strategy in college students were divided into adaptive regulation type (784 cases, 36.10 %), low anxiety-expression type (623 cases, 28.68%), inhibition-anxiety type (478 cases, 22.01%), high anxiety-disorder type (287 cases, 13.21%). There were statistically significant differences in the distribution of various potential categories of social anxiety and emotion regulation strategy among cadres of different gender, family residence, class cadres or not ( χ 2=42.55, 17.86 , 39.05, all P <0.01). Multiple linear regression analysis showed that after controlling the confounding factors such as demographic variables, the potential categories of social anxiety and emotion regulation strategy of college students (low anxiety-expression type, inhibition-anxiety type, high anxiety-disorder type) were the important related factors of short video addiction ( β =0.15,0.25,0.35, all P <0.05).
Conclusions
Social anxiety and emotion regulation strategy of college students exhibit distinct categorical characteristics, and its varying latent categories are associated with short video addiction. Schools should implement targeted intervention measures for different categories of college students to promote their comprehensive mental health development.
8.Correlation of mitochondrial genetic differentiation and spatial variables of Oncomelania hupensis robertsoni in Yunnan Province
Yuanyuan ZHANG ; Jing SONG ; Yuwan HAO ; Zaogai YANG ; Xinping SHI ; Siqi NING ; Hongqiong WANG ; Chunhong DU ; Jihua ZHOU ; Zongya ZHANG ; Kai LI ; Shizhu LI ; Yi DONG
Chinese Journal of Schistosomiasis Control 2026;38(1):54-59
Objective Objective To analyze the potential spatial factors affecting the genetic differentiation of Oncomelania hupensis robertsoni in Yunnan Province. Methods A total of 13 administrative villages were selected from schistosomiasis-endemic areas of Yunnan Province as O. hupensis snail sampling sites. At least 200 snails were collected in each site, and the spatial variable data of each site were recorded, including longitude, latitude and altitude. Thirty active and Schistosoma japonicum uninfected O. hupensis snails were selected from each sampling site by means of the crawling method and the cercarial shedding method. Genomic DNA was extracted from O. hupensis snails. Following PCR amplification, purification of PCR amplification products and sequencing, the gene sequences of O. hupensis snail samples were spliced and edited using the DNAstar software and the NCBI database to yield the complete mitochondrial sequences of O. hupensis snails at each sampling site, and the mitochondrial genetic distance matrix of O. hupensis robertsoni was calculated at each sampling site. The geographical coordinates of each sampling site were marked using the software ArcGIS 10.2, and the straight-line geographical distance between each sampling site was calculated. The altitude difference, longitude difference and latitude difference between each sampling site were calculated using the Excel software, and the correlation between the mitochondrial genetic distance matrix of O. hupensis robertsoni and each spatial variable matrix was examined by using the Mantel test at 13 sampling sites in Yunnan Province. Results Among the 13 O. hupensis snail sampling sites in Yunnan Province, the largest mitochondrial genetic distance of O. hupensis robertsoni snail populations was seen between Anding Village, Nanjian Yi Autonomous County and Caizhuang Village, Midu County (26.244 2), and the largest geographical distance was seen between Dongyuan Village, Gucheng District and Cangling Village, Chuxiong County (272.64 km). The highest altitude difference was seen between Anding Village, Nanjian Yi Autonomous County and Dongyuan Village, Gucheng District (1 086.10 m), and the largest longitude difference was found between Qiandian Village, Eryuan County and Cangling Village, Chuxiong County (1.86°), while the largest latitude difference was measured between Leqiu Village, Nanjian Yi Autonomous County and Dongyuan Village, Gucheng District (1.81°). In addition, the mitochondrial genetic distance of O. hupensis robertsoni snail populations was positively correlated with altitude at 13 snail sampling sites in Yunnan Province (r = 0.542 8, P < 0.001), and showed no significant correlations with geographical distance (r = 0.093 4, P > 0.05), longitude (r = −0.199 5, P > 0.05) or latitude (r = 0.205 7, P > 0.05). Conclusion Altitude may be a potential spatial factor affecting the genetic differentiation of O. hupensis robertsoni in Yunnan Province.
9.Association of mixed exposure to lithium, vanadium, uranium, and bismuth in early pregnancy with gestational weight gain
Jiao LI ; Qi LI ; Shuang CHENG ; Jiayi SONG ; Xiaohui GUO ; Xiang WANG ; Di CHENG ; Kefeng FAN ; Ju WANG
Journal of Environmental and Occupational Medicine 2026;43(4):475-484
Background Gestational weight gain is closely related to maternal and infant health outcomes. Pregnant women are simultaneously exposed to four metals—lithium (Li), vanadium (V), uranium (U), and bismuth (Bi)—through inhalation of fine particulate matter and consumption of contaminated food and water. Existing studies suggest that exposure to these metals may be associated with gestational weight gain. However, no study has yet explored the complex relationships between exposure to mixtures of these four metals and weight gain at different stages of pregnancy. Objective To investigate the associations between mixed exposure to Li, V, U, and Bi in early pregnancy and the average weekly gestational weight gain during both early pregnancy and mid-to-late pregnancy. Methods This prospective study recruited eligible women in early pregnancy from an obstetrics clinic of a tertiary hospital in Jinan, China, between September 2021 and July 2023. Pre-pregnancy weight, current weight (at 11+0 to 13+6 weeks of gestation), and spot urine samples (≥5.0 mL) were collected at enrollment. Urinary concentrations of Li, V, Bi, and U were determined using inductively coupled plasma mass spectrometry. Participants were followed up in late pregnancy (≥28 weeks of gestation) to collect information on physical activity via questionnaire; weight measurements at the last antenatal visit (35+0 to 37+6 weeks of gestation) were obtained from the hospital information system. After adjusting for covariates, multiple linear regression and generalized additive models were used to assess the associations of individual metals with weekly weight gain in early pregnancy and in mid-to-late pregnancy. Bayesian kernel machine regression (BKMR) and quantile-based g-computation (Qgcomp) were applied to evaluate the joint effects of the metal mixture exposure on weekly weight gain at the two gestational stages. Results A total of 313 pregnant women were included. The geometric means of urinary Li, V, U, and Bi concentrations were 37.07, 0.20, 0.06, and 0.04 μg·L−1, respectively; after creatinine adjustment, the corresponding values were 46.82, 0.25, 0.07, and 0.05 μg·g−1 (Cr). The mean weekly gestational weight gain was (0.19±0.25) kg in early pregnancy and (0.53 ± 0.18) kg in mid-to-late pregnancy. Both multiple linear regression and generalized additive models showed that urinary V concentration was positively associated with average weekly gestational weight gain in early pregnancy, while no significant associations were found for other metals or for gestational weight gain in mid-to-late pregnancy. In the BKMR model with early-pregnancy weight gain as the outcome, V had the strongest association [posterior inclusion probability (PIP)=0.773]. When other metals were fixed at their medians, V showed a positive non-linear association with the outcome. A significant single-metal effect of V and its interaction with Li were observed. Compared with the 50th percentile of the metal mixture, the average weekly weight gain in early pregnancy increased by 0.016 (95%CI: 0.003, 0.029) and 0.018 (95%CI: 0.001, 0.036) at the 60th and 65th percentiles, respectively; conversely, at the 25th percentile, it decreased by 0.026 (95%CI: 0.002, 0.050). Overall, the joint effect of the metal mixture on early- pregnancy weight gain showed an upward trend. In the BKMR model for mid-to-late pregnancy gestational weight gain, all PIPs were<0.5, and no significant single-metal effects, interactions, or joint effects were identified. Qgcomp results confirmed a positive association between the metal mixture and early-pregnancy weight gain (b=0.031, 95%CI: 0.010, 0.051; P<0.01), with V contributing the highest positive weight (0.71). No significant association was found for weight gain in mid-to-late pregnancy (b=0.007, P=0.339). Conclusion Higher levels of co-exposure to the Li, V, Bi, and U metal mixture during early pregnancy may be associated with increased average weekly weight gain in early pregnancy. Among these metals, V exhibits a predominant role and appears to interact with Li. No association is observed between early-pregnancy metal mixture exposure and average weekly gestational weight gain in mid-to-late pregnancy. These findings suggest that monitoring and managing metal exposure during early pregnancy may be crucial for the rational regulation of gestational weight gain.
10.Similarities and Differences between Myofascial Trigger Points and Sinew Knot:from the Perspective of the Channel Sinew Theory
Zijie CHEN ; Haohan ZHU ; Xingke SONG ; Xue PU ; Junying WANG
Journal of Traditional Chinese Medicine 2026;67(9):1023-1026
Myofascial trigger points, as hyperirritable spots within taut bands of skeletal muscle, can induce local or referred pain, and show a high degree of similarity to acupoints in traditional Chinese medicine (TCM), particularly the so-called sinew knot lesion point. From the perspective of channel sinew theory, and by examining the correlations of myofascial trigger points with acupoints and channel sinew disorders, this study aims to compare the similarities and differences between MTrPs and sinew knot lesion points in terms of pathological mechanisms, needling analgesic mechanisms, and therapeutic approaches. The goal is to deepen the understanding of MTrPs and dry needling, and provide a modern scientific perspective on channel sinew theory and the sinew knot lesion point.


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