1.Prevalence, influencing factors, and fibrosis risk stratification of metabolic dysfunction-associated fatty liver disease in the health check-up population in Beijing, China
Haiqing GUO ; Mingliang LI ; Feng LIU ; Jing ZHANG
Journal of Clinical Hepatology 2025;41(4):643-649
ObjectiveTo identify the patients with metabolic dysfunction-associated fatty liver disease (MAFLD) among the health check-up population, and to perform stratified management of patients with the low, medium, and high risk of advanced fibrosis based on noninvasive fibrosis scores. MethodsA cross-sectional study was conducted among 3 125 individuals who underwent physical examination in Beijing Physical Examination Center from December 2017 to December 2019, and they were divided into MAFLD group with 1 068 individuals and non-MAFLD group with 2 057 individuals. According to BMI, the MAFLD group was further divided into lean MAFLD group (125 individuals with BMI<24 kg/m2) and non-lean MAFLD group (943 individuals with BMI≥24 kg/m2). Indicators including demographic data, past history, laboratory examination, and liver ultrasound were compared between groups. Fibrosis-4 (FIB-4) score, NAFLD fibrosis score (NFS), aspartate aminotransferase-to-platelet ratio index (APRI), and BARD score were calculated for the patients in the MAFLD group to assess the risk of advanced fibrosis. The independent-samples t test was used for comparison of normally distributed continuous data between two groups, and the Mann-Whitney U rank sum test was used for comparison of non-normally distributed continuous data between two groups; the chi-square test or the Fisher’s exact test was used for comparison of categorical data between groups. A logistic regression analysis was used to investigate the influence of each indicator in MAFLD. ResultsCompared with the non-MAFLD group, the MAFLD group had significantly higher age (Z=-9.758, P<0.05), proportion of male patients (χ2=137.555, P<0.05), and levels of body weight (Z=-27.987, P<0.05), BMI (Z=-32.714, P<0.05), waist circumference (Z=-31.805, P<0.05), hip circumference (Z=-26.342, P<0.05), waist-hip ratio (Z=-28.554, P<0.05), alanine aminotransferase (ALT) (Z=-25.820, P<0.05), aspartate aminotransferase (AST) (Z=-16.894, P<0.05), gamma-glutamyl transpeptidase (GGT) (Z=-25.069, P<0.05), alkaline phosphatase (Z=-12.533, P<0.05), triglyceride (Z=-27.559), total cholesterol (Z=-7.833, P<0.05), low-density lipoprotein cholesterol (LDL-C) (Z=-8.222, P<0.05), and uric acid (UA) (Z=-20.024, P<0.05), as well as a significantly higher proportion of patients with metabolic syndrome (MetS) (χ2=578.220, P<0.05), significantly higher prevalence rates of hypertension (χ2=241.694, P<0.05), type 2 diabetes (χ2=796.484, P<0.05), and dyslipidemia (χ2=369.843, P<0.05), and a significant reduction in high-density lipoprotein cholesterol (HDL-C) (Z=23.153, P<0.001). The multivariate logistic regression analysis showed that male sex (odds ratio [OR]=1.45, 95% confidence interval [CI]: 1.203 — 1.737), ALT (OR=1.05, 95%CI: 1.046 — 1.062), LDL-C (OR=1.23, 95%CI: 1.102 — 1.373), and comorbidity with MetS (OR=5.97, 95%CI: 4.876 — 7.316) were independently associated with MAFLD. Compared with the non-lean MAFLD group, the lean MAFLD group had significantly higher age (Z=3.736, P<0.05) and HDL-C (Z=2.679, P<0.05) and significant reductions in the proportion of male patients (χ2=28.970, P<0.05), body weight (Z=-14.230, P<0.05), BMI (Z=-18.188, P<0.05), waist circumference (Z=-13.451, P<0.05), hip circumference (Z=-13.317, P<0.05), ALT (Z=-4.519, P<0.05), AST (Z=-2.258, P<0.05), GGT (Z=-4.592, P<0.05), UA (Z=-4.415, P<0.05), the proportion of patients with moderate or severe fatty liver disease or MetS (χ2=42.564, P<0.05), and the prevalence rates of hypertension (χ2=12.057, P<0.05) and type 2 diabetes (χ2=3.174, P<0.05). Among the patients with MAFLD, 10 patients (0.9%) had an FIB-4 score of >2.67, 4 patients (0.4%) had an NFS score of >0.676, 8 patients (0.7%) had an APRI of >1, and 551 patients (51.6%) had a BARD score of ≥2. ConclusionThere is a relatively high prevalence rate of MAFLD among the health check-up population in Beijing, but with a relatively low number of patients with a high risk of advanced fibrosis, and such patients need to be referred to specialized hospitals for liver diseases.
2.Analysis of psychological crisis related factors of college students based on the dual factor model of mental health
SUN Yujing, YIN Fei, WANG Mingliang, JIANG Wenlong, ZHANG Jing
Chinese Journal of School Health 2025;46(6):847-851
Objective:
To analyze the current status and influencing factors of psychological crisis among college students, so as to provide a scientific basis for the formulation of psychological crisis intervention plans in colleges and universities.
Methods:
From September to December 2024, 645 college students from a medical undergraduate university in Heilongjiang Province were selected with a convenience sampling method. A convergent mixed analysis design was used. Quantitative analysis was conducted using College Students Psychological Crisis Screening Scale, Emotion Regulation Questionnaire, Short-Egna Minnen av Barndoms Uppfostran and Perceived School Climate Scale. Binary Logistic regression analysis was used to explore the related factors of psychological crisis among college students. Qualitative research was conducted on 15 college students with psychological crisis identified in the quantitative analysis by a purposive sampling method. The interview data were organized and analyzed using the thematic framework analysis method.
Results:
Among the surveyed college students, 92 (14.3%) had psychological crisis. Binary Logistic regression analysis results showed that positive parenting style ( OR=0.97,95%CI =0.95-0.99), negative parenting style ( OR=1.01,95%CI =1.00-1.02), cognitive reappraisal ( OR=0.88, 95%CI =0.83-0.92), expressive suppression ( OR=1.08, 95%CI =1.02-1.15), and perceived campus atmosphere ( OR=0.97, 95%CI =0.95-0.98) were all related factors of psychological crisis among college students ( P <0.05). The qualitative analysis results showed that there were three themes for the influencing factors of college students psychological crisis, including differential impact of emotion regulation strategies on psychological state, shaping of psychological state of college students by family and bidirectional effect of perceived campus atmosphere on psychological state. Mixed analysis results showed that the influencing factors of college students psychological crisis were consistent in terms of emotion regulation strategies, and were expansive in terms of parenting style and perceived campus atmosphere.
Conclusion
Schools and mental health service departments can reduce the risk of psychological crisis by optimizing cognitive reappraisal and reducing expressive suppression, improve the level of psychological crisis by strengthening positive family interaction and blocking negative parenting style, and maintain the mental health level of college students by building a supportive campus environment and alleviating high pressure.
3.Characteristics and lifestyles of patients with metabolic dysfunction-associated fatty liver disease based on the physical examination population
Haiqing GUO ; Mingliang LI ; Feng LIU ; Yali LIU ; Jing ZHANG
Journal of Clinical Hepatology 2025;41(6):1090-1096
ObjectiveTo screen for the patients with metabolic dysfunction-associated fatty liver disease (MAFLD) among the physical examination population, to observe the characteristics of MAFLD patients, and to compare the differences in lifestyle between the MAFLD population and the non-MAFLD population. MethodsA cross-sectional study was conducted among 6 206 individuals who underwent physical examination in a physical examination institution in Beijing from December 2015 to December 2019, and according to the new diagnostic criteria for MAFLD, the examination population was divided into MAFLD group and non-MAFLD group. Based on body mass index (BMI), the MAFLD group was further divided into lean MAFLD group (BMI<24 kg/m2) and non-lean MAFLD group (BMI ≥24 kg/m2). Related data were compared between groups, including demographic indicators, education level, work pressure, physical measurement indicators, and lifestyles such as sleep, diet, and exercise. The independent-samples t test was used for comparison of normally distributed continuous data between two groups, the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups, and the chi-square test was used for comparison of categorical data between groups. ResultsOf all individuals in this study, 1 926 (31.1%) had MAFLD and 4 280 (68.9%) did not have MAFLD. Compared with the non-MAFLD group, the MAFLD group had significantly higher age (Z=-14.459, P<0.001), proportion of male patients (χ2=72.004, P<0.001), work pressure (χ2=7.744, P=0.005), body weight (Z=-43.508, P<0.001), BMI (Z=-47.621, P<0.001), waist circumference (Z=-48.515, P<0.001), hip circumference (Z=-42.121, P<0.001), and waist-hip ratio (Z=-43.535, P<0.001), as well as a significantly lower education level (χ2=33.583, P<0.001). In terms of behavior, the MAFLD group had a significantly shorter sleep time (χ2=5.820, P=0.016) and a significantly faster eating speed (χ2=74.476, P<0.001). In terms of diet, the patients in the MAFLD group consumed more high-sodium, high-sugar, and high-calorie diets (χ2=42.667, P<0.001) and low-fiber diet (χ2=4.367, P=0.008). In terms of exercise, the MAFLD group had a significantly higher proportion of patients without exercise habits (χ2=10.278, P=0.001). Further analysis showed that there were 202 individuals (10.5%) in the lean MAFLD group and 1 724 (89.5%) in the non-lean MAFLD group. Compared with the non-lean MAFLD group, the lean MAFLD group had significantly higher age (Z=3.368, P=0.001) and education level (χ2=9.647, P=0.002) and significantly lower proportion of male patients (χ2=27.664, P<0.001), body weight (Z=-18.483, P<0.001), BMI (Z=-23.286, P<0.001), waist circumference (Z=-18.565, P<0.001), and hip circumference (Z=-18.097, P<0.001), and in terms of behavior, the non-lean MAFLD group had a significantly faster eating speed (χ2=4.549, P=0.033). ConclusionThere is a relatively high prevalence rate of MAFLD among the physical examination population in Beijing, with a higher number of people with unhealthy lifestyles compared with the non-MAFLD population.
4.The application of surgical robots in head and neck tumors.
Xiaoming HUANG ; Qingqing HE ; Dan WANG ; Jiqi YAN ; Yu WANG ; Xuekui LIU ; Chuanming ZHENG ; Yan XU ; Yanxia BAI ; Chao LI ; Ronghao SUN ; Xudong WANG ; Mingliang XIANG ; Yan WANG ; Xiang LU ; Lei TAO ; Ming SONG ; Qinlong LIANG ; Xiaomeng ZHANG ; Yuan HU ; Renhui CHEN ; Zhaohui LIU ; Faya LIANG ; Ping HAN
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(11):1001-1008
5.HOTAIR rs920778 single nucleotide polymorphism is associated with breast cancer susceptibility and HER2-targeted therapy resistance in Chinese population.
Mingliang ZHANG ; Feifan SUN ; Zhuoqi HAN ; Yue GAO ; Yi LUO
Journal of Southern Medical University 2025;45(10):2270-2276
OBJECTIVES:
To investigate the association of HOTAIR gene rs920778 single nucleotide polymorphism (SNP) with breast cancer susceptibility and response to HER2-targeted therapy in a Chinese population.
METHODS:
TaqMan probe-based real-time quantitative PCR was used for genotyping of the rs920778 locus (chr12:54,376,218) in peripheral blood genomic DNA from 287 breast cancer patients and 260 healthy individuals from northern Anhui Province. The genotype (GG, GT and TT) and allele (G/T) distribution frequencies were compared between the two groups to evaluate their association with breast cancer risk. Multivariate logistic regression analysis was conducted to assess the relationship between SNP at this locus and aggressive clinicopathological features (including tumor size, lymph node metastasis, ER/PR/HER2 status, and molecular subtypes) of breast cancer. For the HER2-positive subgroup, the association between rs920778 genotype and responses to dual-targeted therapy (trastuzumab [6 mg/kg q3w]+pertuzumab [420 mg q3w] + docetaxel [75 mg/m²]) was analyzed. The primary endpoints included pathological complete response rate (pCR), objective response rate (ORR), and progression-free survival (PFS).
RESULTS:
The TT genotype of rs920778 was associated with a significantly increased breast cancer susceptibility (OR=1.54, 95% CI: 1.09-2.19; P=0.017), an advanced tumor stage (P<0.001), lymph node metastasis (P<0.001), and the triple-negative subtype (P<0.001). In HER2-positive patients, TT genotype carriers had a markedly reduced objective response rate to dual HER2-targeted therapy (33.3% vs 89.3%, P=0.001) and a lower pathological complete response rate after neoadjuvant therapy (P=0.018).
CONCLUSIONS
The TT genotype of HOTAIR rs920778 serves as an independent risk factor for breast cancer susceptibility and aggressive progression in Chinese population and may predict the resistance to HER2-targeted therapies, suggesting its potential as a prognostic biomarker for precision oncology.
Adult
;
Aged
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Female
;
Humans
;
Middle Aged
;
Breast Neoplasms/drug therapy*
;
Case-Control Studies
;
China
;
Drug Resistance, Neoplasm/genetics*
;
Genetic Predisposition to Disease
;
Genotype
;
Polymorphism, Single Nucleotide
;
Receptor, ErbB-2
;
RNA, Long Noncoding/genetics*
;
East Asian People/genetics*
6.Effect of Dendrobium officinale leaf fermentation fluid on a mouse model of alcoholic hepatitis and its mechanism of action
Xingnian ZHOU ; Yuhong LIU ; Yujie QIN ; Quan ZHANG ; Mingliang CHENG ; Hong LI
Journal of Clinical Hepatology 2024;40(2):335-342
ObjectiveTo investigate the intervention mechanism of Dendrobium officinale leaf fermentation fluid in mice with alcoholic hepatitis. MethodsA total of 70 healthy male C57BL/6J mice, aged 6-8 weeks, were randomly divided into normal group, model group, liquid feed control group, silybin group, and low-, middle-, and high-dose Dendrobium officinale leaf fermentation fluid groups, with 10 mice in each group. The mice in the normal group were given normal diet, and those in the other groups were given Lieber-DeCarli classic liquid diet for 8 weeks to induce alcoholic hepatitis. During modeling, the mice in the low-, middle-, and high-dose Dendrobium officinale leaf fermentation fluid groups were given Dendrobium liquid manufactured by Warmen Pharmaceutical, and the mice in all the other groups were given pure water; the mice in the normal group, the model group, and the liquid feed control group were given normal saline by gavage, those in the silybin group were given silybin 0.25 mL/10 g by gavage, and those in the low-, middle-, and high-dose Dendrobium officinale leaf fermentation fluid groups were given Dendrobium officinale leaf fermentation fluid at a dose of 0.125 mL/10 g, 0.250 mL/10 g, and 0.375 mL/10 g, respectively, by gavage, once a day. At week 8, chloral hydrate was injected intraperitoneally for anesthesia, and blood samples were collected from the eyeball. After serum was separated, the biochemical method was used to measure the levels of aspartate aminotransferase (AST) and alanine aminotransferase (ALT); HE staining and oil red staining were used to observe liver histopathology and lipid accumulation in mice; multiplex Luminex assay was used to measure the serum levels of interleukin-6 (IL-6), interleukin-1β (IL-1β), tumor necrosis factor-α (TNF-α), and CCL2; quantitative real-time PCR, Western blot, and immunofluorescence assay were used to measure the protein expression levels of NLRP3, caspase-1, caspase-11, gasdermin D (GSDMD), N-terminal gasdermin D (GSDMD-N) in liver tissue. A one-way analysis of variance was used for comparison of continuous data between multiple groups, and the least significant difference t-test was used for further comparison between two groups. ResultsCompared with the normal group, the model group had significant increases in the serum levels of AST, ALT, IL-6, IL-1β, TNF-α, and CCL2 (all P<0.05), and compared with the model group, the high-dose Dendrobium officinale leaf fermentation fluid group had significant reductions in the serum levels of AST, ALT, IL-6, IL-1β, TNF-α, and CCL2 (all P<0.05). HE staining showed that the model group had disordered structure of hepatic lobules, with a large number of steatosis vacuoles and massive cell necrosis, and compared with the model group, the high-dose Dendrobium officinale leaf fermentation fluid group had alleviation of liver histopathological injury, intact structure of most hepatic lobules, and a small amount of inflammatory cell infiltration. Oil red staining showed that the model group had accumulation of large and small lipid droplets in the liver and a significant increase in liver fat content, and compared with the model group, the high-dose Dendrobium officinale leaf fermentation fluid group had significant alleviation of hepatic steatosis, with the presence of sporadic small lipid droplets. Immunofluorescence assay of liver tissue showed that compared with the normal group, the model group had a significant increase in the ratio of GSDMD-positive staining area in hepatocyte cytoplasm (P<0.001), and compared with the model group, the high-dose Dendrobium officinale leaf fermentation fluid group had a significant reduction in such ratio in hepatocyte cytoplasm (P<0.001). Quantitative real-time PCR showed that compared with the normal group, the model group had significant increases in the protein expression levels of NLRP3, caspase-1, caspase-11, GSDMD, GSDMD-N, interleukin-18 (IL-18), and IL-1β in liver tissue (all P<0.05), and compared with the model group, the high-dose Dendrobium officinale leaf fermentation fluid group had significant reductions in the protein expression levels of NLRP3, caspase-1, caspase-11, GSDMD, GSDMD-N, IL-18, and IL-1 (all P<0.05). Compared with the model group, the high-dose Dendrobium officinale leaf fermentation fluid group had significant reductions in the protein expression levels of caspase-1 and caspase-11 (both P<0.05), with a relative expression level of caspase-1 of 1.757 (reduced by 26.6% compared with the model group) and a relative expression level of caspase-11 of 0.455 (reduced by 70.3% compared with the model group), suggesting that caspase-11 showed a greater reduction than caspase-1. ConclusionDendrobium officinale leaf fermentation fluid can alleviate alcoholic hepatitis in mice, possibly by inhibiting the non-classical cell pyroptosis pathway mediated by caspase-11.
7.Clinical efficacy of Zhiyang Xiaozhen granules combined with second-generation antihistamine in the treatment of chronic urticaria
Li ZHANG ; Bo YANG ; Qiaozhi CAO ; Cong PENG ; Mingliang CHEN ; Juan SU ; Xiang CHEN ; Jie LI
Journal of Central South University(Medical Sciences) 2024;49(2):175-181
Objective:Chronic urticaria presents a chronic process of recurrent attacks,and its first-line treatment is second-generation antihistamine with limited treatment options.The efficacy of antihistamine varies among individuals and cannot meet the needs of all patients.This study aims to explore the clinical efficacy and safety of Zhiyang Xiaozhen granules combined with antihistamine in the treatment of chronic urticaria patients. Methods:We retrospectively analyzed the clinical data of patients with chronic urticaria who visited the Xiangya Hospital of Central South University from April 2020 to March 2021.The patients who received conventional second-generation antihistamine treatment were selected as a control group,while the patients who received combined treatment with Zhiyang Xiaozhen granules on the basis of conventional second-generation antihistamine treatment were selected as an observation group.The differences in the Weekly Urticaria Activity Score(UAS7)and Dermatology Life Quality Index(DLQI)between the 2 groups before and 4 weeks after treatment were compared.The Symptom Score Reduce Index(SSRI)was used to evaluate and compare the efficacy of the 2 treatment regimens. Results:After 4 weeks of treatment,the UAS7 levels in both groups were significantly reduced(P=0.001 and P<0.001,respectively).The effective rates of the control group and the observation group were 61.11%and 59.38%,respectively when converting UAS7 to SSRI for efficacy evaluation,and there was no statistically significant difference in efficacy between the 2 groups(P>0.05);however,when converting DLQI to SSRI for efficacy evaluation,the effective rates of the control group and the observation group were 33.33%and 46.88%,respectively,and the difference in efficacy between the 2 groups was statistically significant(P<0.001).There were 3 patients with adverse drug reactions related to drowsiness in both groups. Conclusion:The combination of Zhiyang Xiaozhen granules and second-generation antihistamine can effectively improve disease activity in patients with chronic urticaria,and the improvement in quality of life is better than that with the second-generation antihistamine alone.
8.Long-term efficacy and complications of implantable diaphragm pacer in children with high cervical spinal cord injury: case report and literature review
Yongqi XIE ; Huiming GONG ; Degang YANG ; Liang CHEN ; Yanmei JIA ; Yang XIE ; Shuang GUO ; Liang ZHANG ; Run PENG ; Mingliang YANG
Chinese Journal of Applied Clinical Pediatrics 2024;39(2):134-137
The long-term efficacy and complications of implantable diaphragm pacer (IDP) in a child with cervical spinal cord injury (CSCI) in the Department of Spinal and Neural Functional Reconstruction, China Rehabilitation Research Center in September 2022 were retrospective analyzed.A male child had quadriplegia without an obvious cause at the age of 12 years, and he was then lived completely with the assistance of mechanical ventilation.At the age of 14 years, he could wean off the ventilator in unilateral diaphragmatic pacing mode.However, mechanical ventilation was re-given for months after 5 years due to pneumonia, and then the IDP was re-given with the self-felt decreased pacing effect.After hospitalization, the patient was examined with mild diaphragmatic atrophy, secondary flat chest, and mild scoliosis.After optimization of the transdiaphragmatic pacing threshold and rehabilitation, his respiratory function improved.IDP can be used in CSCI for long time, while flat chest and scoliosis that limited the expansion of the lungs should be considered.At the meantime, the increased abdominal spasm affected the abdominal compliance, leading to the decrease in the efficiency of the diaphragm.
9.The mechanism of emodin inhibiting YAP1 and FOXD1 in gastric cancer AGS cells and its related study
Tian GU ; Chunhong LIU ; Fei ZHANG ; Wei QIAN ; Yanqiu ZHU ; Mingliang CHU ; Jiemin LIU
The Journal of Practical Medicine 2024;40(1):59-64,71
Objective To explore the possible mechanism of emodin in inhibiting proliferation,migration,and invasion of AGS cells and in suppressing the expressions of YAP1 and FOXD1.Methods Normal gastric cell GES-1 and gastric cancer cell AGS were cultured with different concentrations of emodin.CCK8 test,scratch test and Transwell assay were used to verify changes in the biological phenotype of AGS cells.TCGA database was applied to analyze expressions of HK2,YAP1 and FOXD1 in gastric cancer tissues and normal gastric tissues.Western blotting method was used to detect the impacts of emodin on HK2,YAP1 and FOXD1 proteins in AGS cells.Exogenous pyruvic acid was added to verify the changes in YAP1 and FOXD1.Results The IC50 of emodin was significantly higher in GES-1 cells than in AGS cells(P<0.05).CCK8 proliferation test,scratch test,and Transwell assay showed that emodin significantly inhibited the biological abilities of AGS(P<0.05 for comparisons).Analysis on the TCGA bioinformatics database found that the expression of key enzymes HK2 in the glycolysis pathway and oncogenes YAP1 and FOXD1 was significantly higher in gastric cancer tissues than in normal gastric tissues(P<0.05 for comparisons).Emodin significantly inhibited the protein expressions of key glycolytic enzymes HK2 and oncogenes YAP1 and FOXD1(P<0.05 for comparisons).With supplement of exogenous glycolytic metabolite pyruvate,the protein expressions of oncogenes YAP1 and FOXD1 significantly increased(P<0.05 for comparisons).Conclusions Emodin has a significant pharmacological inhibitory effect on gastric cancer AGS cells,markedly suppressing their biological phenotype.Emodin not only significantly inhibits the key enzyme HK2 in glycolysis metabolism,but also the protein expressions of oncogenes YAP1 and FOXD1.With the addition of exogenous pyruvate to enhance the glycolytic metabolic pathway,the protein expressions of oncogenes YAP1 and FOXD1 significantly increased.The above results suggest a close association of YAP1 and FOXD1 with glycolytic metabolism.Emodin may inhibit oncogenes YAP1 and FOXD1 through the glycolytic metabolism of gastric cancer AGS cells.
10.A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement
Hua ZHENG ; Yunfei ZHI ; Lujing YING ; Lan ZHU ; Mingliang JI ; Ze LIANG ; Jiangshan WANG ; Haifeng SHI ; Weihong ZHANG ; Mengsu XIAO ; Yushi ZHANG ; Kaifeng XU ; Zhaohui LU ; Yaping LIU ; Ruiyi XU ; Huijuan ZHU ; Li WEN ; Yan ZHANG ; Gang CHEN ; Limeng CHEN
JOURNAL OF RARE DISEASES 2024;3(1):79-86
Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.


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