1.Research progress on the correlation of dry eye with depression
Feng JIN ; Baoyue MI ; Jingqing MU ; Jingjing CAO ; Xia HUA
International Eye Science 2026;26(1):74-79
Dry eye disease is a chronic ocular surface disorder of multifactorial origin, characterized by a loss of tear film homeostasis and associated with a range of ocular discomfort symptoms. Growing evidence underscores a significant bidirectional relationship between dry eye and depression: individuals with dry eye disease exhibit a higher prevalence of depressive disorders, and conversely, those diagnosed with depression demonstrate an increased susceptibility to developing dry eye. This interplay is mediated through several pathophysiological pathways, such as chronic inflammation, cerebral functional alterations, gut microbiome dysregulation, and sleep disturbances, which may collectively sustain a vicious cycle. The use of antidepressant therapy introduces further complexity, exerting heterogeneous effects on dry eye—some agents may offer symptomatic relief, whereas others can aggravate ocular surface impairment. The mechanisms responsible for these differential outcomes remain incompletely elucidated and merit further investigation. This review systematically consolidates epidemiological data on the dry eye-depression link, examines potential shared pathological mechanisms, and evaluates current therapeutic options. We propose an integrated management approach that combines conventional dry eye treatments, such as traditional Chinese medicine, electroacupuncture, physical activity and antidepressants—a multimodal strategy that may yield synergistic benefits in alleviating both ocular and affective symptoms, thereby improving overall quality of life. Moving forward, research should focus on deciphering the underlying mechanistic pathways and facilitating the translation of these insights into clinical practice to inform targeted, combined treatment regimens for patients with dry eye and depression.
2.Construction and in vitro osteogenic activity study of magnesium-strontium co-doped hydroxyapatite mineralized collagen
WANG Meng ; SUN Yifei ; CAO Xiaoqing ; WEI Yiyuan ; CHEN Lei ; ZHANG Zhenglong ; MU Zhao ; ZHU Juanfang ; NIU Lina
Journal of Prevention and Treatment for Stomatological Diseases 2026;34(1):15-28
Objective:
To investigate the efficacy of magnesium-strontium co-doped hydroxyapatite mineralized collagen (MSHA/Col) in improving the bone repair microenvironment and enhancing bone regeneration capacity, providing a strategy to address the insufficient biomimetic composition and limited bioactivity of traditional hydroxyapatite mineralized collagen (HA/Col) scaffolds.
Methods:
A high-molecular-weight polyacrylic acid-stabilized amorphous calcium magnesium strontium phosphate precursor (HPAA/ACMSP) was prepared. Its morphology and elemental distribution were characterized by high-resolution transmission electron microscopy (TEM) and energy-dispersive spectroscopy. Recombinant collagen sponge blocks were immersed in the HPAA/ACMSP mineralization solution. Magnesium-strontium co-doped hydroxyapatite was induced to deposit within collagen fibers (experimental group: MSHA/Col; control group: HA/Col). The morphological characteristics of MSHA/Col were observed using scanning electron microscopy (SEM). Its crystal structure and chemical composition were analyzed by X-ray diffraction and Fourier transform infrared spectroscopy, respectively. The mineral phase content was evaluated by thermogravimetric analysis. The scaffold's porosity, ion release, and in vitro degradation performance were also determined. For cytological experiments, CCK-8 assay, live/dead cell staining, alkaline phosphatase staining, alizarin red S staining, RT-qPCR, and western blotting were used to evaluate the effects of the MSHA/Col scaffold on the proliferation, viability, early osteogenic differentiation activity, late mineralization capacity, and gene and protein expression levels of key osteogenic markers [runt-related transcription factor 2 (Runx2), collagen type Ⅰ (Col-Ⅰ), osteopontin (Opn), and osteocalcin (Ocn)] in mouse embryonic osteoblast precursor cells (MC3T3-E1).
Results:
HPAA/ACMSP appeared as amorphous spherical nanoparticles under TEM, with energy spectrum analysis showing uniform distribution of carbon, oxygen, calcium, phosphorus, magnesium, and strontium elements. SEM results of MSHA/Col indicated successful complete intrafibrillar mineralization. Elemental analysis showed the mass fractions of magnesium and strontium were 0.72% (matching the magnesium content in natural bone) and 2.89%, respectively. X-ray diffraction revealed characteristic peaks of hydroxyapatite crystals (25.86°, 31°-34°). Infrared spectroscopy results showed characteristic absorption peaks for both collagen and hydroxyapatite. Thermogravimetric analysis indicated a mineral phase content of 78.29% in the material. The scaffold porosity was 91.6% ± 1.1%, close to the level of natural bone tissue. Ion release curves demonstrated sustained release behavior for both magnesium and strontium ions. The in vitro degradation rate matched the ingrowth rate of new bone tissue. Cytological experiments showed that MSHA/Col significantly promoted MC3T3-E1 cell proliferation (130% increase in activity at 72 h, P < 0.001). MSHA/Col exhibited excellent efficacy in promoting osteogenic differentiation, significantly upregulating the expression of osteogenesis-related genes and proteins (Runx2, Col-Ⅰ, Opn, Ocn) (P < 0.01).
Conclusion
The MSHA/Col scaffold achieves dual biomimicry of natural bone in both composition and structure, and effectively promotes osteogenic differentiation at the genetic and protein levels, breaking through the functional limitations of pure hydroxyapatite mineralized collagen. This provides a new strategy for the development of functional bone repair materials
3.Application of artificial intelligence in quality control of mammographic images
Yunyun LYU ; Le FU ; Ruixin LI ; Zeyi ZHANG ; Xiaoli MU ; Hui WANG ; Huizhi CAO ; Jianli YU
Chinese Journal of Radiological Health 2026;35(2):173-179
Objective To evaluate the application value of artificial intelligence (AI) in the quality control of mammographic images and explore its feasibility for improving image quality. Methods A retrospective analysis was conducted on 500 mammographic images from 125 female patients. These images were acquired in December 2024 at the Department of Radiology, Obstetrics and Gynecology Hospital of Tongji University by two junior technologists with qualification certificate for junior radiologic technologists and ≤ 2 months of independent operation. The reference standard was the evaluation by a panel of senior experts comprising one associate chief radiologist and two intermediate radiologic technologists with over 10 years of experience in mammography. The evaluation was based on nine criteria within an AI quality control system. The correlation and consistency (Kappa test) of the assessment outcomes were compared among the junior technologist group, the AI quality control group, and the panel group. Additionally, the differences in the proportions of high-, medium-, and low-quality images rated by the three groups were analyzed. After one month of AI assistance, 200 images from 50 additional patients acquired by the same two junior technologists in January 2025 were collected. The area under the receiver operating characteristic curve and 95% confidence interval (95%CI) were calculated for the assessment performance of the junior technologist group before and after AI assistance. Differences were compared using the DeLong test. Changes in the disqualification rates for the nine criteria were analyzed. Results In consistency analysis, the AI quality control group showed high consistency with the panel group across multiple key criteria, with Kappa values ranging from 0.41 to 1.00. In contrast, the consistency between the junior technologist group and the panel group was generally low, with Kappa values ranging from 0.13 to 0.49. In comparison of image quality classification, no significant differences were observed in image quality classification between the AI group and the panel group (P>0.05). However, the proportion of images rated as high quality by the junior technologist group was significantly higher, while the proportions rated as medium and low quality were significantly lower, compared to those rated by the panel group (P<0.05). After AI assistance, the area under the receiver operating characteristic curve for the assessment performance of junior technologist group increased significantly from 0.56 (95%CI: 0.51-0.61) to 0.91 (95%CI: 0.87-0.94) (P<0.001). The disqualification rates for skin folds, incomplete inclusion of the pectoralis major muscle, and nipple not in profile decreased significantly. Conclusion AI demonstrates assessment capability comparable to the panel group in mammographic quality control. AI effectively enhances the quality of images acquired by junior technologists through real-time, objective feedback.
4.Application of artificial intelligence in quality control of mammographic images
Yunyun LYU ; Le FU ; Ruixin LI ; Zeyi ZHANG ; Xiaoli MU ; Hui WANG ; Huizhi CAO ; Jianli YU
Chinese Journal of Radiological Health 2026;35(2):173-179
Objective To evaluate the application value of artificial intelligence (AI) in the quality control of mammographic images and explore its feasibility for improving image quality. Methods A retrospective analysis was conducted on 500 mammographic images from 125 female patients. These images were acquired in December 2024 at the Department of Radiology, Obstetrics and Gynecology Hospital of Tongji University by two junior technologists with qualification certificate for junior radiologic technologists and ≤ 2 months of independent operation. The reference standard was the evaluation by a panel of senior experts comprising one associate chief radiologist and two intermediate radiologic technologists with over 10 years of experience in mammography. The evaluation was based on nine criteria within an AI quality control system. The correlation and consistency (Kappa test) of the assessment outcomes were compared among the junior technologist group, the AI quality control group, and the panel group. Additionally, the differences in the proportions of high-, medium-, and low-quality images rated by the three groups were analyzed. After one month of AI assistance, 200 images from 50 additional patients acquired by the same two junior technologists in January 2025 were collected. The area under the receiver operating characteristic curve and 95% confidence interval (95%CI) were calculated for the assessment performance of the junior technologist group before and after AI assistance. Differences were compared using the DeLong test. Changes in the disqualification rates for the nine criteria were analyzed. Results In consistency analysis, the AI quality control group showed high consistency with the panel group across multiple key criteria, with Kappa values ranging from 0.41 to 1.00. In contrast, the consistency between the junior technologist group and the panel group was generally low, with Kappa values ranging from 0.13 to 0.49. In comparison of image quality classification, no significant differences were observed in image quality classification between the AI group and the panel group (P>0.05). However, the proportion of images rated as high quality by the junior technologist group was significantly higher, while the proportions rated as medium and low quality were significantly lower, compared to those rated by the panel group (P<0.05). After AI assistance, the area under the receiver operating characteristic curve for the assessment performance of junior technologist group increased significantly from 0.56 (95%CI: 0.51-0.61) to 0.91 (95%CI: 0.87-0.94) (P<0.001). The disqualification rates for skin folds, incomplete inclusion of the pectoralis major muscle, and nipple not in profile decreased significantly. Conclusion AI demonstrates assessment capability comparable to the panel group in mammographic quality control. AI effectively enhances the quality of images acquired by junior technologists through real-time, objective feedback.
5.Application of artificial intelligence in quality control of mammographic images
Yunyun LYU ; Le FU ; Ruixin LI ; Zeyi ZHANG ; Xiaoli MU ; Hui WANG ; Huizhi CAO ; Jianli YU
Chinese Journal of Radiological Health 2026;35(2):173-179
Objective To evaluate the application value of artificial intelligence (AI) in the quality control of mammographic images and explore its feasibility for improving image quality. Methods A retrospective analysis was conducted on 500 mammographic images from 125 female patients. These images were acquired in December 2024 at the Department of Radiology, Obstetrics and Gynecology Hospital of Tongji University by two junior technologists with qualification certificate for junior radiologic technologists and ≤ 2 months of independent operation. The reference standard was the evaluation by a panel of senior experts comprising one associate chief radiologist and two intermediate radiologic technologists with over 10 years of experience in mammography. The evaluation was based on nine criteria within an AI quality control system. The correlation and consistency (Kappa test) of the assessment outcomes were compared among the junior technologist group, the AI quality control group, and the panel group. Additionally, the differences in the proportions of high-, medium-, and low-quality images rated by the three groups were analyzed. After one month of AI assistance, 200 images from 50 additional patients acquired by the same two junior technologists in January 2025 were collected. The area under the receiver operating characteristic curve and 95% confidence interval (95%CI) were calculated for the assessment performance of the junior technologist group before and after AI assistance. Differences were compared using the DeLong test. Changes in the disqualification rates for the nine criteria were analyzed. Results In consistency analysis, the AI quality control group showed high consistency with the panel group across multiple key criteria, with Kappa values ranging from 0.41 to 1.00. In contrast, the consistency between the junior technologist group and the panel group was generally low, with Kappa values ranging from 0.13 to 0.49. In comparison of image quality classification, no significant differences were observed in image quality classification between the AI group and the panel group (P>0.05). However, the proportion of images rated as high quality by the junior technologist group was significantly higher, while the proportions rated as medium and low quality were significantly lower, compared to those rated by the panel group (P<0.05). After AI assistance, the area under the receiver operating characteristic curve for the assessment performance of junior technologist group increased significantly from 0.56 (95%CI: 0.51-0.61) to 0.91 (95%CI: 0.87-0.94) (P<0.001). The disqualification rates for skin folds, incomplete inclusion of the pectoralis major muscle, and nipple not in profile decreased significantly. Conclusion AI demonstrates assessment capability comparable to the panel group in mammographic quality control. AI effectively enhances the quality of images acquired by junior technologists through real-time, objective feedback.
6.Compound 3k for osteoarthritis:mechanism of modulating oxidative stress pathway to improve chondrocyte glycolysis
Surong GUO ; Shisheng CAO ; Xingtong MU ; Qing YANG ; Juan ZHANG
Chinese Journal of Tissue Engineering Research 2025;29(2):363-370
BACKGROUND:Osteoarthritis is now considered a metabolic disease.Previous studies have shown that glycolysis plays an important role in the occurrence and development of osteoarthritis.Compound 3k,as a novel small molecule inhibitor of glycolysis,has anti-inflammatory and anti-tumor effects.Therefore,it can target glycolysis and is expected to provide new ideas for the treatment of osteoarthritis. OBJECTIVE:To explore the role of Compound 3k in osteoarthritis caused by glycolytic overactivity based on the hypoxia-inducible factor 1 alpha(HIF-1α)/reactive oxygen species(ROS)pathway. METHODS:ATDC5 chondroblasts at logarithmic growth phase were taken to induce osteoarthritis in an in vitro cellular model by the action of 10 ng/mL interleukin-1β for 24 hours.The cytotoxicity of Compound 3k at different concentrations(0.25,0.5,1,2.5,5,10,15 μmol/L)was detected by cell counting kit-8 assay,and the appropriate concentrations were selected for the subsequent experiments.The chondrocytes were randomly divided into control,model and treatment groups.The model group was induced with 10 ng/mL interleukin 1β,and the treatment group was pre-stimulated with Compound 3k for 2 hours and then co-cultured with interleukin 1β.The proliferation of the cells in each group was detected by the cell counting kit-8 assay;the inflammatory level of the cells in each group was detected by the ELISA kit;the ROS,extracellular lactate and glucose contents were detected using the kit;qRT-PCR and western blot were used to detect the levels of related inflammatory factors,interleukin-6 and tumor necrosis factor-α,glycolysis-related genes glucose transporter protein-1,glyceraldehyde 3-phosphate dehydrogenase,monocarboxylate transporter protein-1 and HIF-1α. RESULTS AND CONCLUSION:Compared with the control group,the model group showed a decrease in cell proliferative activity,active glycolysis level,manifested by an increase in extracellular lactate content(P<0.001)and a decrease in glucose content(P<0.001),interleukin-6(P<0.000 1)and tumor necrosis factor-α(P<0.001).The expression levels of glycolysis-related genes glucose transporter protein-1(P<0.001),glyceraldehyde 3-phosphate dehydrogenase(P<0.001),monocarboxylic acid transporter protein-1(P<0.001)and HIF-1α(P<0.001)in the model group were all up-regulated,accompanied by oxidative stress and overproduction of ROS.Compared with the model group,Compound 3k treatment effectively increased cell proliferation activity and inhibited the level of overactive glycolysis(P<0.001),while suppressing the expression of genes related to inflammation(P<0.001)and glycolysis in osteoarthritic chondrocytes,inhibiting oxidative stress,downregulating the expression level of HIF-1α(P<0.000 1)and decreasing the content of ROS.To conclude,Compound 3k inhibits interleukin-1β induced chondrocyte inflammation,and its mechanism may be related to glycolysis and HIF-1α/ROS mediated oxidative stress.
7.Research progress on active components of traditional Chinese medicine inhibiting esophageal carcinoma by targeting mitochondrial apoptosis pathway
Junke XIAO ; Xiaoyan MU ; Jiaojiao GUO ; Shangzhi YANG ; Xuewei CAO ; Zhizhong GUO
China Pharmacy 2025;36(10):1283-1288
Esophageal carcinoma is a malignant disease with a high incidence rate and poor prognosis. The mitochondrial apoptosis pathway plays a pivotal role in the regulation of cell death and has become a focal point in current cancer therapeutics research. Various active components from traditional Chinese medicine (TCM) can target the mitochondrial apoptosis pathway to inhibit esophageal carcinoma, presenting as potential therapeutic agents for this disease. This paper summarizes relevant research on the inhibition of esophageal carcinoma by active components in TCM via targeting the mitochondrial apoptosis pathway. It has been found that flavonoids (casticin, icariin, luteolin, kaempferol, hesperetin, deguelin, etc.), terpenoids (oridonin, Jaridonin, artesunate, ethyl acetate fraction of pleurotus ferulatus triterpenoid, etc.), alkaloids (matrine, swainsonine, etc.), polyphenols (curcumin, epigallocatechin-3-gallate, corilagin, etc.), steroids (α-hederin, polyphyllin Ⅵ, etc.), phenols (optimized scorpion venom peptide CT-K3K7, gecko active polypeptide, etc.), volatile oils (cinnamaldehyde, α -asarone, etc.) and other active components from TCM can target the intrinsic mitochondrial apoptosis pathway, induce apoptosis in esophageal carcinoma cells, and inhibit their proliferation, invasion and migration by regulating oxidative stress, blocking the cell cycle, regulating signaling pathways such as PI3K/Akt and MAPK.
8.Analysis and research on acute kidney injury following one-stage revision combined with intra-articular antibiotics infusion for hip periprosthetic joint infection
Qiangde HU ; Li CAO ; Boyong XU ; Wentao GUO ; Wahafu TUERHONGJIANG· ; Chen ZOU ; Long HUA ; Wenbo MU
Chinese Journal of Orthopaedics 2025;45(5):271-279
Objective:To study the risk factors for acute kidney injury (AKI) following one-stage revision surgery combined with intra-articular antibiotics infusion for periprosthetic joint infection (PJI) of the hip joint.Methods:A retrospective analysis was conducted on the data of 168 patients with hip PJI who underwent one-stage revision surgery combined with intra-articular antibiotics infusion in the Department of Joint Surgery, the First Affiliated Hospital of Xinjiang Medical University, from May 1, 2010 to April 30, 2024. There were 87 males and 81 females with an average age of 60.1±14.6 years (range: 21-89 years). The body mass index (BMI) was 24.9±4.6 kg/m 2 (range: 17-41 kg/m 2). PJI was diagnosed according to the criteria of Musculoskeletal Infection Society (MSIS) in 2011. AKI was diagnosed and classified according to the Kidney Disease: Improving Global Outcomes (KDIGO) criteria. For AKI group and non-AKI group, risk factors were screened by univariate analysis on their age, gender, BMI, BMI≥30 kg/m 2 (yes/no), American Society of Anesthesiologists (ASA) score (II/III), hypertension, diabetes, chronic kidney disease (CKD), surgical side (left/right), duration of intravenous antibiotic use, duration of intra-articular antibiotic use, preoperative blood transfusion, postoperative blood transfusion, baseline hemoglobin value, anemia grade (none/mild/moderate), baseline serum creatinine value, baseline serum creatinine grade (normal/below normal range/above normal range). Variables with P<0.10 were included in the multivariate logistic regression model to identify independent risk factors. Results:The overall incidence of AKI was 9.52%(16/168), among which 50%(8 cases) were stage I AKI, transient and requiring no special treatment. 12.5% (2 cases) were stage II AKI and did not undergo dialysis. 37.5%(6 cases) were stage III AKI. One case needed temporary hemodialysis, and there was no patient requiring long-term dialysis. There were significant differences in age, diabetes, chronic kidney disease and ASA score between AKI group and non-AKI group ( P<0.05). The univariate logistic regression analysis revealed that there were significant differences in age ( P=0.005), BMI ( P=0.078), ASA score level Ⅲ ( P=0.037), diabetes ( P=0.025), CKD ( P=0.003), and low baseline serum creatinine level ( P=0.056). Multivariate logistic regression analysis showed that age, CKD and low baseline serum creatinine level were independent risk factors for AKI ( P<0.05). Conclusions:The incidence of AKI after one-stage revision surgery combined with local antibiotic use in the joint cavity was relatively low in the treatment of PJI after total hip arthroplasty. Hower elderly patients with a history of CKD, or a low baseline serum creatinine level before surgery were at higher risk of developing AKI.
9.Guideline for Adult Weight Management in China
Weiqing WANG ; Qin WAN ; Jianhua MA ; Guang WANG ; Yufan WANG ; Guixia WANG ; Yongquan SHI ; Tingjun YE ; Xiaoguang SHI ; Jian KUANG ; Bo FENG ; Xiuyan FENG ; Guang NING ; Yiming MU ; Hongyu KUANG ; Xiaoping XING ; Chunli PIAO ; Xingbo CHENG ; Zhifeng CHENG ; Yufang BI ; Yan BI ; Wenshan LYU ; Dalong ZHU ; Cuiyan ZHU ; Wei ZHU ; Fei HUA ; Fei XIANG ; Shuang YAN ; Zilin SUN ; Yadong SUN ; Liqin SUN ; Luying SUN ; Li YAN ; Yanbing LI ; Hong LI ; Shu LI ; Ling LI ; Yiming LI ; Chenzhong LI ; Hua YANG ; Jinkui YANG ; Ling YANG ; Ying YANG ; Tao YANG ; Xiao YANG ; Xinhua XIAO ; Dan WU ; Jinsong KUANG ; Lanjie HE ; Wei GU ; Jie SHEN ; Yongfeng SONG ; Qiao ZHANG ; Hong ZHANG ; Yuwei ZHANG ; Junqing ZHANG ; Xianfeng ZHANG ; Miao ZHANG ; Yifei ZHANG ; Yingli LU ; Hong CHEN ; Li CHEN ; Bing CHEN ; Shihong CHEN ; Guiyan CHEN ; Haibing CHEN ; Lei CHEN ; Yanyan CHEN ; Genben CHEN ; Yikun ZHOU ; Xianghai ZHOU ; Qiang ZHOU ; Jiaqiang ZHOU ; Hongting ZHENG ; Zhongyan SHAN ; Jiajun ZHAO ; Dong ZHAO ; Ji HU ; Jiang HU ; Xinguo HOU ; Bimin SHI ; Tianpei HONG ; Mingxia YUAN ; Weibo XIA ; Xuejiang GU ; Yong XU ; Shuguang PANG ; Tianshu GAO ; Zuhua GAO ; Xiaohui GUO ; Hongyi CAO ; Mingfeng CAO ; Xiaopei CAO ; Jing MA ; Bin LU ; Zhen LIANG ; Jun LIANG ; Min LONG ; Yongde PENG ; Jin LU ; Hongyun LU ; Yan LU ; Chunping ZENG ; Binhong WEN ; Xueyong LOU ; Qingbo GUAN ; Lin LIAO ; Xin LIAO ; Ping XIONG ; Yaoming XUE
Chinese Journal of Endocrinology and Metabolism 2025;41(11):891-907
Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.
10.Clinical features of familial hypercholesterolemia in children
Shuyue HUANG ; Fuying SONG ; Xiou WANG ; Yi SONG ; Tianqi WANG ; Mu DU ; Ziqin LIU ; Yiping WANG ; Bingyan CAO
Chinese Journal of Pediatrics 2025;63(10):1131-1135
Objective:To analyze the clinical characteristics of familial hypercholesterolemia (FH) in children and provide a basis for clinical diagnosis and individualized treatment.Methods:Case series study. Clinical data of 24 children with FH, who were admitted to the Department of Endocrinology in Capital Center for Children′s Health, Capital Medical University, from January 2018 to January 2025, were analyzed. Follow-ups were performed every 3-6 months and ended in January 2025. According to the results of genetic testing, the children were divided into homozygous familial hypercholesterolemia (HoFH) group and heterozygous familial hypercholesterolemia (HeFH) group. The blood lipid levels of different subtypes, the efficacy of different treatments, and clinical outcomes were compared by Mann-Whitney U test. Results:The 24 children were from 17 families, including 14 males and 10 females, with a diagnostic age of 5.0 (3.0, 9.5) years. Genetic testing results showed that 22 cases (92%) had LDLR gene variants and 2 cases (8%) had APOB gene variants, all of which were inherited from parents. There were 5 cases (21%) of HoFH and 19 cases (79%) of HeFH, and 4 previously unreported new loci were identified. There were 6 children (25%) presented with xanthomas, including 5 cases of HoFH and 1 case of HeFH. The level of low-density lipoprotein cholesterol (LDL-C) in the HoFH group was significantly higher than that in the HeFH group ( P<0.05). Regarding treatment, 11 children received dietary control without taking medicine, 6 were treated with statins, 3 with ezetimibe, and 3 with statins combined with ezetimibe, and 1 underwent liver transplantation. None of the children receiving only dietary control achieved the target LDL-C level (<3.49 mmol/L or a reduction of >50%), and there was no statistically significant difference in LDL-C before and after dietary control ( P=0.158). After treatment with statins and (or) ezetimibe, LDL-C decreased in 12 children ( P<0.05); among them, 6 cases (all HeFH) reached the target LDL-C level. There was no statistically difference in LDL-C levels before and after treatment with atorvastatin and ezetimibe in 5 HoFH children( P>0.05). One HoFH child had LDL-C reduced to the normal range after liver transplantation. No serious adverse reactions were observed in all children during drug treatment. In the detection of vascular-related complications among 12 HeFH children, only 1 child had a slight thickening of the bilateral carotid intima-media, while no abnormalities were found in the others. Conclusions:Xanthoma is a characteristic manifestation of FH, but its incidence is relatively low in HeFH children. Family history and genetic testing are key evidences for the diagnosis of FH. Dietary control has limited efficacy in children with FH, and drug treatment should be initiated as early as possible. LDL-C levels in HoFH children are more difficult to control, if drug treatment shows poor efficacy, liver transplantation may be a better option.


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