1.Advances in reno-protective effects of traditional Chinese medicine in the treatment of hyperuricemia
Xiaoting ZHOU ; Yu DUAN ; Xingyuan LI ; Qin LIU ; Aijun LIU
Journal of Pharmaceutical Practice and Service 2026;44(4):167-172
Hyperuricemia (HUA) is a common metabolic disorder characterized by persistently elevated serum uric acid levels, leading to uric acid-related renal injury through complex mechanisms involving inflammation, oxidative stress, and fibrosis. Key traditional Chinese medicine (TCM) formulas (e.g., Simiao Powder, Tongfengning) and individual herbal compounds (alkaloids, flavonoids, polysaccharides) with urate-lowering and renal protective properties were systematically summarized, including their mechanisms of regulating uric acid transporters (organic anion transporter 3, urate anion transporter 1, glucose transporter type 9), inhibiting inflammatory responses (via NF-κB signaling), reducing oxidative stress (via mitochondrial pathways and antioxidant enzyme enhancement), and attenuating renal fibrosis (via PI3K/AKT signaling). The challenges of current studies mainly focus on unclear mechanisms of action and insufficient clinical research. Future research may further explore TCM resources, clarify dual-action mechanisms of urate reduction and renal protection, and identify new therapeutic strategies for hyperuricemia-related renal injury.
2.Effect of Xiaoqinglong Decoction (小青龙汤) on Th2 Immune Responses and Nasal Mucosal TSLP/OX40L Pathway in Allergic Rhinitis Model Rats
Yimeng CHEN ; Yuye CHEN ; Guangchun YU ; Bei CHEN ; Jianwei ZHANG ; Shanshan DING ; Xiaoting YANG ; Baifan YU ; Yating CAI ; Xuejuan LIN ; Mengting ZHANG
Journal of Traditional Chinese Medicine 2026;67(9):994-1002
ObjectiveTo explore the potential mechanism of Xiaoqinglong Decoction (小青龙汤, XD) in the treatment of allergic rhinitis. MethodsForty-five rats were randomly assigned to a control group, a model group, a loratadine group, low-, medium- and high-dose XD groups, and low-, medium- and high-dose Mahuang Decoction and Cang'erzi Powder (麻黄汤合苍耳子散, MDCP) groups. Except for the control group, rats were administered with ovalbumin (OVA) and aluminum hydroxide via intraperitoneal injection for 14 days to establish an allergic rhinitis model. After the 14th-day injection, nasal stimulation was continued with 20 μl of 10% OVA solution to maintain the model. Rats in the control group and the model group received 10 ml/(kg·d) of saline, whereas those in the loratadine group were administered with 0.9 mg/(kg·d) of loratadine. The low-, medium- and high-dose XD groups were administered XD at the dose of 2.7, 5.4, and 10.8 g/(kg·d), respectively. The low-, medium- and high-dose MDCP groups were administered MDCP at the dose of 2.43, 4.86, and 9.72 g/(kg·d), respectively. All treatments were administered by gavage once daily for 7 consecutive days. One hour after the final gavage, nasal symptom scores were recorded for all group of rats. The next day, serum levels of immunoglobulin E (IgE), interleukin-4 (IL-4), and interleukin-13 (IL-13) were measured. HE staining was used to observe the pathological morphology of the nasal mucosal tissue. Quantitative reverse transcription PCR (RT-qPCR) and Western Blot were performed to assess mRNA and protein expression of thymic stromal lymphopoietin (TSLP) and OX40 ligand (OX40L) in the nasal mucosa. ResultsCompared to the control group, total nasal symptom score in the model group significantly increased (P<0.01). HE staining revealed disrupted and adhered cilia, thickened basement membranes, and extensive inflammatory cell infiltration in the nasal mucosa. Serum levels of total IgE, IL-4, and IL-13, as well as TSLP and OX40L mRNA and protein expression in the nasal mucosa, were significantly elevated in the model group (P<0.05 or P<0.01). Compared to the model group, the total nasal symptom scores in all drug intervention groups were significantly reduced; the serum total IgE levels in the loratadine group, the low- and medium-dose XD groups, and the low- and high-dose MDCP groups were significantly reduced; and the serum levels of IL-4 and IL-13 in the high-dose XD group and the high-dose MDCP group decreased (P<0.05 or P<0.01). Nasal mucosal structure was improved. Except for the low-dose MDCP group, all other intervention groups showed a significant reduction in TSLP and OX40L mRNA expression in the nasal mucosa (P<0.01). All doses of XD and the medium- and high-dose MDCP groups significantly decreased the protein levels of TSLP and OX40L (P<0.05). The medium-dose XD group exhibited more improvement of nasal symptom scores and greater suppression of expression of TSLP and OX40L mRNA, and TSLP protein levels compared to the loratadine group (P<0.05). ConclusionXD may protect nasal mucosa of rats and alleviate allergic rhinitis by suppressing the TSLP/OX40L pathway, thereby attenuating Th2-mediated immune responses.
3.Effect of Xiaoqinglong Decoction (小青龙汤) on Th2 Immune Responses and Nasal Mucosal TSLP/OX40L Pathway in Allergic Rhinitis Model Rats
Yimeng CHEN ; Yuye CHEN ; Guangchun YU ; Bei CHEN ; Jianwei ZHANG ; Shanshan DING ; Xiaoting YANG ; Baifan YU ; Yating CAI ; Xuejuan LIN ; Mengting ZHANG
Journal of Traditional Chinese Medicine 2026;67(9):994-1002
ObjectiveTo explore the potential mechanism of Xiaoqinglong Decoction (小青龙汤, XD) in the treatment of allergic rhinitis. MethodsForty-five rats were randomly assigned to a control group, a model group, a loratadine group, low-, medium- and high-dose XD groups, and low-, medium- and high-dose Mahuang Decoction and Cang'erzi Powder (麻黄汤合苍耳子散, MDCP) groups. Except for the control group, rats were administered with ovalbumin (OVA) and aluminum hydroxide via intraperitoneal injection for 14 days to establish an allergic rhinitis model. After the 14th-day injection, nasal stimulation was continued with 20 μl of 10% OVA solution to maintain the model. Rats in the control group and the model group received 10 ml/(kg·d) of saline, whereas those in the loratadine group were administered with 0.9 mg/(kg·d) of loratadine. The low-, medium- and high-dose XD groups were administered XD at the dose of 2.7, 5.4, and 10.8 g/(kg·d), respectively. The low-, medium- and high-dose MDCP groups were administered MDCP at the dose of 2.43, 4.86, and 9.72 g/(kg·d), respectively. All treatments were administered by gavage once daily for 7 consecutive days. One hour after the final gavage, nasal symptom scores were recorded for all group of rats. The next day, serum levels of immunoglobulin E (IgE), interleukin-4 (IL-4), and interleukin-13 (IL-13) were measured. HE staining was used to observe the pathological morphology of the nasal mucosal tissue. Quantitative reverse transcription PCR (RT-qPCR) and Western Blot were performed to assess mRNA and protein expression of thymic stromal lymphopoietin (TSLP) and OX40 ligand (OX40L) in the nasal mucosa. ResultsCompared to the control group, total nasal symptom score in the model group significantly increased (P<0.01). HE staining revealed disrupted and adhered cilia, thickened basement membranes, and extensive inflammatory cell infiltration in the nasal mucosa. Serum levels of total IgE, IL-4, and IL-13, as well as TSLP and OX40L mRNA and protein expression in the nasal mucosa, were significantly elevated in the model group (P<0.05 or P<0.01). Compared to the model group, the total nasal symptom scores in all drug intervention groups were significantly reduced; the serum total IgE levels in the loratadine group, the low- and medium-dose XD groups, and the low- and high-dose MDCP groups were significantly reduced; and the serum levels of IL-4 and IL-13 in the high-dose XD group and the high-dose MDCP group decreased (P<0.05 or P<0.01). Nasal mucosal structure was improved. Except for the low-dose MDCP group, all other intervention groups showed a significant reduction in TSLP and OX40L mRNA expression in the nasal mucosa (P<0.01). All doses of XD and the medium- and high-dose MDCP groups significantly decreased the protein levels of TSLP and OX40L (P<0.05). The medium-dose XD group exhibited more improvement of nasal symptom scores and greater suppression of expression of TSLP and OX40L mRNA, and TSLP protein levels compared to the loratadine group (P<0.05). ConclusionXD may protect nasal mucosa of rats and alleviate allergic rhinitis by suppressing the TSLP/OX40L pathway, thereby attenuating Th2-mediated immune responses.
4.Textual Research on Key Information and Modern Clinical Application of Classical Famous Formula Liumotang
Xinyu ZHANG ; Chong LI ; Yixuan HU ; Luming LIANG ; Ye ZHAO ; Xiaoting LU ; Yu WANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(3):201-212
Liumotang comes from the Yuan dynasty's Effective Prescription Handed Down for Generations of Physicians. It is composed of six medicinal materials: Arecae Semen, Aquilariae Lignum Resinatum, Aucklandiae Radix, Linderae Radix, Rhei Radix et Rhizoma, and Aurantii Fructus. It is a classical formula for treating abdominal pain due to Qi stagnation and constipation accompanied by heat. This study systematically collated the records of Liumotang in ancient medical books and modern clinical literature and conducted in-depth analysis and textual research on its formula source, main diseases, composition, dosage, medical books, container capacity, processing, preparation method, usage, drug basis, formula meaning, and other key information, so as to provide a powerful reference for the development and clinical application of compound preparations of the classical formula Liumotang. The results show that Liumotang was first seen in Effective Prescription Handed Down for Generations of Physicians, and many medical books of the past dynasties have imitated this. In terms of drug basis, the dried and mature seeds of the palm plant Areca catechu, resin-containing wood of the Daphneaceae plant Aquilaria sinensis, the dried roots of the Asteraceae plant woody Aucklandia lappa, the dried tuber root of the Lauraceae plant Lindera aggregata, the dried roots and rhizomes of the knotweed plant, R. palmatum, R.tangutikum, and R. officinale, and the dried and unripe fruits of the citrus genus C. aurantium and its cultivated varieties from the family Rutaceae were selected. In terms of dosage, through the textual research on bowls in the Ming and Qing dynasties, combined with the conversion of medicines and bowl capacity in the Qing dynasty, it was estimated that the dosage of each drug in the Yuan dynasty was 10.86 g. In the Ming and Qing dynasties, the dosage of drugs was mostly equal, but the dosage of drugs was somewhat different. In terms of processing, preparation method, and usage, in the medical books of the past dynasties, the processing of drugs has slightly changed, but raw drugs are used in all preparations. The preparation method and usage did not change much during the Yuan, Ming, and Qing dynasties, except for certain differences in dosage. In terms of syndrome, Liumotang was first used to treat abdominal pain due to Qi stagnation and constipation accompanied by heat. Medical books of the past dynasties often omit the symptoms of heat. In modern clinical practice, Liumotang is mainly used in the digestive system and urinary system diseases and is mostly used to treat constipation-predominant irritable bowel syndrome, biliary reflux gastritis, functional constipation, slow transit constipation, and other diseases, with no adverse reactions found yet. The above results provide a reliable scientific basis for the development and clinical treatment of Liumotang compound preparations.
5.The nuclear phosphoinositide-p53 signalosome in the regulation of cell motility.
Xiaoting HOU ; Yu CHEN ; Bo ZHOU ; Fengting LIU ; Lingyun DAI ; Chunbo CHEN ; Noah D CARRILLO ; Vincent L CRYNS ; Richard A ANDERSON ; Jichao SUN ; Mo CHEN
Protein & Cell 2025;16(10):840-857
Dysregulation of p53 and phosphoinositide (PIPn) signaling are both key drivers of oncogenesis and metastasis. Our recent findings reveal a previously unrecognized interaction between these pathways, converging in the nucleus to form a PIPn-p53 signalosome that modulates nuclear AKT activation and downstream signaling, thereby influencing cancer cell survival and motility. This review examines recent insights into nuclear PIPn signaling in the context of established roles for p53 in cell dynamics and migration while also deliberating current research on how nuclear PIPns interact with p53 to form signalosomes that affect cell motility. We emphasize the critical role of PIPns in stabilizing p53 and activating de novo nuclear AKT signaling, which subsequently modulates key motility-related pathways. Understanding the unique operation and function of the PIPn-p53 signalosome in nuclear phosphatidylinositol 3-kinase (PI3K)-AKT activation offers novel therapeutic strategies for controlling cancer metastasis by targeting pertinent interactions and events.
Humans
;
Tumor Suppressor Protein p53/metabolism*
;
Signal Transduction
;
Cell Movement
;
Cell Nucleus/metabolism*
;
Phosphatidylinositols/metabolism*
;
Proto-Oncogene Proteins c-akt/metabolism*
;
Animals
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Neoplasms/pathology*
;
Phosphatidylinositol 3-Kinases/metabolism*
6.Effect of surface treatment on dentin rebonding after laser non-destructive removal of zirconia prosthesis
LI Xiaoting ; JIANG Lei ; LU Zhicen ; CAI Chunyan ; YU Hao
Journal of Prevention and Treatment for Stomatological Diseases 2025;33(3):195-202
Objective:
To investigate the changes of dentin surface and the effects of different surface treatments on the rebonding effect following non-destructive restoration removal by an Er:YAG laser and to provide reference for oral clinical operation
Methods:
This study was approved by the ethics review committee of the unit. Using computer-aided design and computer-aided manufacturing (CAD/CAM) technology, 102 zirconia specimens (4 mm × 4 mm × 1.5 mm) were fabricated. In total, 110 impacted third molar teeth were extracted, and 102 dentine blocks (4 mm × 4 mm × 2 mm) were prepared. The zirconia specimen and dentin blocks were bonded with resin cement before removal with an Er: YAG laser. Three disassembled dentin blocks were randomly selected, and the components of dentin surface elements were analyzed by energy dispersive X-ray spectroscopy (EDX). The removed dentin blocks were randomly divided into three groups (n = 33) based on the different surface treatments: control group (no treatment), sandblasting group (50 μm, Al2O3 sandblasting), and laser irradiation group (Er: YAG laser irradiation, parameters were set to 10 Hz, 60 mJ, 0.6 W). Three dentin blocks were randomly selected in each group for scanning electron microscopy (SEM) observation, and the residual resin on dentin surface of remaining 30 dentin blocks in each group were observed under an optical microscope at 20 times magnification. Scores were obtained using the adhesive remnant index (ARI) method. Three groups of dentin blocks (n = 30) that underwent different surface treatments were rebonded with resin cement according to standard procedures and then divided into two subgroups for aging (n = 15). One subgroup was subjected to a 37 ℃ water bath for 24 h, and the other subgroup was subjected to 5 000 thermal cycles after a 37 ℃ water bath for 24 h, and the micro-shear bonding strength of each group was measured. The microshear bonding strength of each group was measured, and fracture modes were analyzed. The differences of dentine surface ARI between the three groups, as well as the inter-group differences in fracture mode, and bonding strength, and the intra-group differences before and after aging were compared between the three groups.
Results:
When zirconia was removed by Er: YAG laser, there was no obvious damage on the dentin surface, but C and Si elements in dentin increased significantly. After different surface treatments, the ARI scores of the sandblasting and laser irradiation groups were lower than those of the control group (P<0.05), while ARI was not significantly different between the sandblasting and laser irradiation groups (P>0.05). The dentin surface morphology was also different. There was a large amount of residual resin on the dentin surface of the control group. In the sandblasting group, the residual resin was lower, the dentin surface was rough, and the dentin tubules were visible. A large amount of residual resin was observed on the dentin surface of the laser irradiation group. After 24 h of water bath at 37 ℃, the bonding strengths of the control group, sandblasting group, and laser irradiation group were (6.13 ± 2.40) MPa, (9.39 ± 2.00) MPa, and (5.85 ± 1.44) MPa, respectively, and the bonding strength of the sandblasting group was significantly higher than that of the other two groups (P<0.05). After being subjected to 24 h of water bath at 37 ℃ and 5 000 thermal cycles, the bonding strengths of the control group, sandblasting group, and laser irradiation group were (5.39 ± 0.83) MPa, (8.45 ± 1.20) MPa and (4.84 ± 1.43) MPa, respectively. The bonding strength of the sandblasting group was significantly higher than that of the other two groups (P<0.05). There was no significant difference between the control group, sandblasting group, and laser irradiation group before and after 5 000 thermal cycles following 24 h of water bath at 37 ℃ (P>0.05). In the control group, sandblasting group, and laser irradiation group, cohesive fracture was not observed. The fracture mode was mainly adhesive fracture. Before and after 5 000 thermal cycles, the frequency of mixed fracture in the sandblasting group was significantly higher than that in the other two groups (P<0.05).
Conclusion
Er: YAG laser removal of zirconia does not damage dentin, but a large amount of resin remains on the dentin surface after removal. The sandblasting process can effectively remove these residual resins, thereby improving the dentine rebonding effect.
7.Expert consensus on visualized tele-round and quality control management based on the improvement of clinical practice ability
Wanhong YIN ; Xiaoting WANG ; Ran ZHOU ; Dawei LIU ; Yan KANG ; Yaoqing TANG ; Xiaochun MA ; Jianguo LI ; Zhenjie HU ; Haitao ZHANG ; Wei HE ; Lixia LIU ; Wenjin CHEN ; Ran ZHU ; Jun WU ; Hongmin ZHANG ; Lina ZHANG ; Wenzhao CHAI ; Shihong ZHU ; Wangbin XU ; Rongqing SUN ; Xiangyou YU ; Tianjiao SONG ; Ying ZHU ; Hong REN ; Ai SHANMU ; Qing ZHANG ; Wei FANG ; Xiuling SHANG ; Liwen LYU ; Shuhan CAI ; Xin DING ; Heng ZHANG ; Guang FENG ; Lipeng ZHANG ; Bo HU ; Dong ZHANG ; Weidong WU ; Feng SHEN ; Xiaojun YANG ; Zhenguo ZENG ; Qibing HUANG ; Xueying ZENG ; Tongjuan ZOU ; Milin PENG ; Yulong YAO ; Mingming CHEN ; Hui LIAN ; Jingmei WANG ; Yong LI ; Feng QU ; Gang YE ; Rongli YANG ; Xiukai CHEN ; Suwei LI ; Juxiang WANG ; Yangong CHAO
Chinese Journal of Internal Medicine 2025;64(2):101-109
Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor′s professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China. Telemedicine, which shortens the distance of medical professionals and the gap of disease diagnosis and treatments in various regions through electronic information, can effectively solve the current problem. Therefore, there is an urgent need to develop a standardized, high-quality visualization telemedicine round system .Therefore, experts have been organized to search domestic and foreign literature on telemedicine round for critically ill patients and to form this consensus based on clinical experiences so as to further improve the level of critical care treatments in regions.
8.X-ray irradiation promotes apoptosis in rat astrocytes by upregulating AQP4 and inhibiting autophagy
Yaozu XIONG ; Changhua YU ; Na CHEN ; Fengmei CUI ; Yu TU ; Xiaoting XU
Chinese Journal of Radiation Oncology 2025;34(4):369-378
Objective:To explore the changes of aquaporin-4 (AQP4) expression in rat astrocytes (RA) and rat model of radiation-induced brain injury (RIBI) after X-ray radiation, as well as its impact on cell functions.Methods:Logarithmic-phase RA were divided into four groups: Sham group (no treatment), AQP4 siRNA group (transfected with AQP4 lentivirus), IR group (single 20 Gy X-ray irradiation), and IR+AQP4 siRNA group (transfected with AQP4 lentivirus followed by single 20 Gy X-ray irradiation). The cell proliferation viability after radiation was detected using the CCK-8 assay. The relative expression of AQP4 mRNA in each group was measured by quantitative reverse transcription polymerase chain reaction, and the optimal AQP4 siRNA lentiviral sequence was selected for further studies. Western blot was used to detect the relative expression levels of AQP4, phosphorylated histone H2A family member X (γH2AX), autophagy-related proteins, glial fibrillary acidic protein (GFAP), proteins in the phosphatidylinositol-3-kinase (PI3K) / protein kinase B (AKT) / mammalian target of rapamycin (mTOR) pathway, and apoptosis-related proteins in cells from each group. Immunofluorescence (co-expression) staining was used to detect the expression of AQP4, γH2AX, GFAP, LC3, phosphatase and tensin homolog-induced kinase 1 (PINK1) in cells from each group, as well as the expression of AQP4 and LC3 in brain tissues from the rat RIBI model. Flow cytometry was used to detect the apoptosis rate of cells in each group. The differences between two groups were compared using the t-test, while the differences among multiple groups were evaluated using analysis of variance (ANOVA) and Tukey's multiple comparison test. Results:The proliferation viability of RA decreased to its lowest level at 24 h after irradiation. At the 24 h post-irradiation time point, the expression levels of γH2AX and AQP4 were significantly increased in the IR group compared with the Sham group. The fluorescence intensity of AQP4 in the AQP4 siRNA group was lower than that in the Sham group. The cells in the IR group showed significant enlargement and irregular morphology, with a significant increase in AQP4 fluorescence intensity, while the IR+AQP4 siRNA group showed mild cell enlargement and lower AQP4 fluorescence intensity compared with the IR group. Compared with the Sham group, the expression of microtubule-associated protein1 light chain 3 (LC3) and PINK1 proteins were decreased in the IR group, while the IR+AQP4 siRNA group showed higher expression levels compared with the IR group. Compared with the Sham group, the IR group showed increased expression of AQP4, GFAP, and sequestosome 1 (P62) proteins, decreased expression of Beclin-1 (BECN1) and LC3 proteins, and a reduced LC3-II/LC3-I ratio, while the IR+AQP4 siRNA group exhibited a restored LC3-II/LC3-I ratio. The apoptosis rate in the AQP4 siRNA group was similar to that in the Sham group, while the IR group showed a significantly increased apoptosis rate, and the IR+AQP4 siRNA group had a lower apoptosis rate than the IR group. The expression of caspase-3 (Caspase3) decreased in the IR group, while the expression of PI3K, AKT, mTOR, extracellular signal-regulated kinase (ERK)1/2, and cleaved Caspase3 protein increased; these changes were partially reversed in the IR+AQP4 siRNA group. In the rat RIBI model, the expression area and intensity of AQP4 were higher in the IR group compared with the Sham group, while LC3 expression showed the opposite pattern.Conclusions:The possible molecular mechanism of RA apoptosis caused by X-ray irradiation is that irradiation promotes the expression of AQP4, causes cell swelling, inhibits autophagy, and prevents cells from clearing damaged organelles in a timely manner, thereby promoting cell apoptosis.
9.Clinicopathological features and prognosis of rectal neuroendocrine tumor with grade 2
Zhenkai LUO ; Qi ZHANG ; Xiaoting MA ; Renshen XIANG ; Shuaibing LU ; Deyang KONG ; Yu SUN ; Yingying FENG ; Wei PEI ; Lin FENG ; Yuelu ZHU ; Lin YANG ; Haizeng ZHANG
Chinese Journal of Oncology 2025;47(1):108-117
Objective:To explore the clinicopathological features of rectal neuroendocrine tumor (R-NET) G2, identify prognostic factors, and summarize treatment experience.Methods:The clinical data of patients diagnosed with R-NET G2 by pathological diagnosis admitted to Cancer Hospital of the Chinese Academy of Medical Sciences from January 2003 to September 2023 were retrospectively analyzed. The Fisher's exact test and Kaplan-Meier curves were performed to analyze the association between pathological features and prognosis.Results:A total of 22 patients were enrolled in this study and 21 patients were followed up for a period of 6-98 months with a median follow-up time of 42 months. 5 patients died due to tumor progression during the follow-up period. The 1-, 3-, and 5-year cancer-specific survival (CSS) of the whole group were 100.0%, 92.9%, and 69.6%, respectively. Of the 22 patients, 20 underwent surgical treatment, of which 15 underwent postoperative adjuvant therapy; 2 underwent medical treatment for liver and bone multiple metastases. The 5-year survival rates of patients with tumours ≥2 cm in length, T2-3 stage, lymph node metastasis, and distant metastasis (57.1%, 68.8%, 66.7%, and 63.6%, respectively) were shorter than those of patients with tumours <2 cm in length, T1 stage, no lymph node metastasis, and no distant metastasis (all 100.0%, P<0.001). In addition, patients with liver metastases had larger primary tumor diameters and higher T-stages compared with those without distant metastasis ( P<0.05). Conclusions:R-NET G2 has a high degree of malignancy compared with G1 and a high propensity for metastasis. Clinicians should formulate appropriate diagnostic and treatment strategies based on factors such as tumor size, depth of invasion, lymph node status, presence of distant metastasis, and the location and extent of distant metastasis.
10.NCF1 gene mutation-induced systemic lupus erythematosus in twin sisters of a family
Li YU ; Xiaoxiao XU ; Yiqi XU ; Xiaoting LIU ; Fuyu PEI
Chinese Journal of Applied Clinical Pediatrics 2025;40(7):541-544
The clinical manifestations and genealogic test results of twin sisters with systemic lupus erythematosus (SLE) caused by the homozygous mutation of NCF1 treated at the Department of Pediatrics, Nanfang Hospital, Southern Medical University from May 2021 to January 2024 were reported.Case 1 (a 8-year-old girl) was admitted in May 2021 due to " epistaxis for two times and thrombocytopenia for more than 1 month", presenting tricytopenia, mainly thrombocytopenia.A homozygous mutation of NCF1 gene c. 269G > A (p.R90H) was detected in case 1, and she was subsequently diagnosed with SLE.Case 2 (a 11-year-old girl), the little sister of case 1, was admitted in January 2024 due to " repeated fever for more than 10 days, cough for 2 days, and convulsion once". The manifestations were reduced myelodysplasia, hemophagy accounted for 66%, and perineal ulcer during treatment.She was finally diagnosed with SLE and also had a homozygous mutation of NCF1 gene c. 269G > A (p.R90H).Their parents both carried the mutation.This case provides a reference for pathogenic mutations and phenotypes of NCF1.It suggests that close attention should be paid to the family history of patients in clinical diagnosis of SLE.


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