1.Correlation Analysis of Northwest Dryness Syndrome with Pulmonary Tuberculosis in Moyu County,Hetian Prefecture,Xinjiang
Xiu-mei WANG ; Huan LIU ; Yu-cun ZHANG ; GULISHALA·TURSUN ; Hua-gui LI
Progress in Modern Biomedicine 2025;25(11):1788-1798
Objective:To explore the incidence characteristics and correlation analysis of Western dryness syndrome in pulmonary tuberculosis patients in Moyu County,Hetian Prefecture,Xinjiang,and to provide a basis for the prevention and treatment strategies and effectiveness evaluation of pulmonary tuberculosis in Xinjiang.Methods:89 confirmed cases of pulmonary tuberculosis in Moyu County,Hotian Prefecture,Xinjiang from October 2023 to October 2024 were selected as the case group,and 117 healthy individuals matched with the case group in terms of gender,age,and education level in Moyu County,Hotian Prefecture,Xinjiang during the same period were selected as the control group.The general information and incidence of Northwest dryness syndrome between two groups were compared.The incidence and severity of Northwest dryness syndrome in tuberculosis patients,as well as the main and secondary syndrome scores of Northwest dryness syndrome were analyzed.The influencing factors of pulmonary tuberculosis were analyzed.The scores of the main syndrome of Northwest dryness syndrome(lung wei kong pi dryness syndrome)and the concurrent syndrome of Northwest dryness syndrome(heart kidney yin deficiency syndrome,lung heart spleen wind fire dryness syndrome,liver kidney essence blood deficiency syndrome,spleen stomach dampness syndrome,spleen stomach yin deficiency syndrome)between the control group and the case group were compared.The correlation between pulmonary tuberculosis and the on set of Northwest dryness syndrome were analyzed by Spearman rank sum test.Results:There was no significant difference between the control group and the case group in terms of body mass index(BMI),age,education level,gender,etc.(P>0.05).The incidence of Northwest dryness syndrome in the case group was significantly higher than that in the control group(P<0.05).The Northwest Dry Syndrome Scale score in the severe group was higher than that in the mild and moderate groups,and the Northwest Dry Syndrome Scale score in the moderate group was higher than that in the mild group(P<0.05).Among 89 patients with pulmonary tuberculosis,the main syndrome of lung wei kong pi dryness syndrome had the highest number of cases,totaling 42 cases(47.19%).The highest number of concurrent syndromes were heart kidney yin deficiency syndrome,totaling 36 cases(40.45%),followed by spleen stomach yin deficiency syndrome,totaling 35 cases(39.33%).The results showed that suffering from Northwest dryness syndrome was a risk factor for pulmonary tuberculosis(P<0.05).There were significant differences in the scores of the main syndrome of Northwest dryness(Lung Wei Kong Pi dryness syndrome),the concurrent syndrome of Northwest dryness(Lung Heart Spleen Wind Fire dryness syndrome),and the concurrent syndrome of Northwest dryness(Spleen Stomach Yin Deficiency syndrome)between the control group and the case group(P<0.05).There was no significant difference in the scores of Northwest dryness syndrome(liver and kidney essence and blood deficiency syndrome),Northwest dryness syndrome(heart and kidney yin deficiency syndrome),and Northwest dryness syndrome(spleen and stomach dampness syndrome)between the control group and the case group(P>0.05).The score of pulmonary tuberculosis syndrome was positively correlated with various types of Northwest dryness syndrome(P<0.05),and there was a significant correlation at the 0.001 level between pulmonary Wei Kong Pi dryness syndrome,pulmonary heart spleen wind fire dryness syndrome,and spleen stomach dampness syndrome(P<0.05).The correlation between liver and kidney essence and blood deficiency syndrome and spleen and stomach yin deficiency syndrome is significant at the 0.01 level(P<0.05).The correlation between heart and kidney yin deficiency syndrome is significant at the 0.05 level(P<0.05).Conclusion:The northwest dryness syndrome is related to the occurrence of pulmonary tuberculosis in Moyu County,Hotan Prefecture,Xinjiang,and is a risk factor for the occurrence of pulmonary tuberculosis.There is a significant positive correlation between the pulmonary tuberculosis syndrome score and various types of northwest dryness syndrome,among which the lung wei kong pi dryness syndrome,lung heart spleen wind fire dryness syndrome,and spleen stomach dampness syndrome have the most significant impact on the pulmonary nucleus syndrome score.
2.Predictive value of cerebroplacental ratio,cerebro-uterine ratio combined with cystatin C for adverse pregnancy outcomes in preeclampsia fetuses
Huan LU ; Tian TIAN ; Xue-hui WU ; Chun-mei ZHOU ; Xin-yu WU ; Wei LI
Journal of Regional Anatomy and Operative Surgery 2025;34(9):827-831
Objective To investigate the predictive value of cerebroplacental ratio(CPR),cerebro-uterine ratio(CUR)combined with cystatin C(CysC)for adverse pregnancy outcomes in preeclampsia(PE)fetuses.Methods A retrospective analysis was conducted on the clinical data of 150 PE patients admitted to the department of obstetrics and gynecology of Nuclear Industry 416 Hospital from January 2019 to December 2024,and patients were divided into the adverse-outcome group and the favorable-outcome group according to pregnancy outcomes.The clinical data,CPR,CUR and CysC level were compared between the two groups.Multivariate Logistic regression was used to analyze the independent influencing factors of adverse pregnancy outcome in PE patients;then,receiver operating characteristic(ROC)curve analysis was performed to evaluate the predictive efficiency of each index on adverse pregnancy outcome.Results The adverse-outcome group had shorter/lower gestational age at diagnosis,estimated fetal body weight,CUR,and CPR,but higher body mass index and CysC level compared to those in the favorable-outcome group,with significant differences(P<0.05).Multivariate Logistic regression identified that the elevated CysC level,and decreased CUR and CPR were related influencing factors for adverse pregnancy outcome(P<0.05).ROC curve analysis demonstrated that CUR,CPR and CysC had strong predictive value for adverse pregnancy outcome,with the area under the curve(AUC)of 0.802(95%CI:0.729 to 0.863),0.834(95%CI:0.764 to 0.890),and 0.791(95%CI:0.717 to 0.853),respectively;the combined prediction of CUR,CPR and CysC had grater AUC of 0.909(95%CI:0.851 to 0.950)than the individual prediction of the above three indicators(P<0.05).Conclusion CUR,CPR and CysC are influencing factors of adverse pregnancy outcome in PE patients,and their combined detection demonstrates good predictive value for adverse pregnancy outcome in PE patients.
3.Correlation Analysis of Northwest Dryness Syndrome with Pulmonary Tuberculosis in Moyu County,Hetian Prefecture,Xinjiang
Xiu-mei WANG ; Huan LIU ; Yu-cun ZHANG ; GULISHALA·TURSUN ; Hua-gui LI
Progress in Modern Biomedicine 2025;25(11):1788-1798
Objective:To explore the incidence characteristics and correlation analysis of Western dryness syndrome in pulmonary tuberculosis patients in Moyu County,Hetian Prefecture,Xinjiang,and to provide a basis for the prevention and treatment strategies and effectiveness evaluation of pulmonary tuberculosis in Xinjiang.Methods:89 confirmed cases of pulmonary tuberculosis in Moyu County,Hotian Prefecture,Xinjiang from October 2023 to October 2024 were selected as the case group,and 117 healthy individuals matched with the case group in terms of gender,age,and education level in Moyu County,Hotian Prefecture,Xinjiang during the same period were selected as the control group.The general information and incidence of Northwest dryness syndrome between two groups were compared.The incidence and severity of Northwest dryness syndrome in tuberculosis patients,as well as the main and secondary syndrome scores of Northwest dryness syndrome were analyzed.The influencing factors of pulmonary tuberculosis were analyzed.The scores of the main syndrome of Northwest dryness syndrome(lung wei kong pi dryness syndrome)and the concurrent syndrome of Northwest dryness syndrome(heart kidney yin deficiency syndrome,lung heart spleen wind fire dryness syndrome,liver kidney essence blood deficiency syndrome,spleen stomach dampness syndrome,spleen stomach yin deficiency syndrome)between the control group and the case group were compared.The correlation between pulmonary tuberculosis and the on set of Northwest dryness syndrome were analyzed by Spearman rank sum test.Results:There was no significant difference between the control group and the case group in terms of body mass index(BMI),age,education level,gender,etc.(P>0.05).The incidence of Northwest dryness syndrome in the case group was significantly higher than that in the control group(P<0.05).The Northwest Dry Syndrome Scale score in the severe group was higher than that in the mild and moderate groups,and the Northwest Dry Syndrome Scale score in the moderate group was higher than that in the mild group(P<0.05).Among 89 patients with pulmonary tuberculosis,the main syndrome of lung wei kong pi dryness syndrome had the highest number of cases,totaling 42 cases(47.19%).The highest number of concurrent syndromes were heart kidney yin deficiency syndrome,totaling 36 cases(40.45%),followed by spleen stomach yin deficiency syndrome,totaling 35 cases(39.33%).The results showed that suffering from Northwest dryness syndrome was a risk factor for pulmonary tuberculosis(P<0.05).There were significant differences in the scores of the main syndrome of Northwest dryness(Lung Wei Kong Pi dryness syndrome),the concurrent syndrome of Northwest dryness(Lung Heart Spleen Wind Fire dryness syndrome),and the concurrent syndrome of Northwest dryness(Spleen Stomach Yin Deficiency syndrome)between the control group and the case group(P<0.05).There was no significant difference in the scores of Northwest dryness syndrome(liver and kidney essence and blood deficiency syndrome),Northwest dryness syndrome(heart and kidney yin deficiency syndrome),and Northwest dryness syndrome(spleen and stomach dampness syndrome)between the control group and the case group(P>0.05).The score of pulmonary tuberculosis syndrome was positively correlated with various types of Northwest dryness syndrome(P<0.05),and there was a significant correlation at the 0.001 level between pulmonary Wei Kong Pi dryness syndrome,pulmonary heart spleen wind fire dryness syndrome,and spleen stomach dampness syndrome(P<0.05).The correlation between liver and kidney essence and blood deficiency syndrome and spleen and stomach yin deficiency syndrome is significant at the 0.01 level(P<0.05).The correlation between heart and kidney yin deficiency syndrome is significant at the 0.05 level(P<0.05).Conclusion:The northwest dryness syndrome is related to the occurrence of pulmonary tuberculosis in Moyu County,Hotan Prefecture,Xinjiang,and is a risk factor for the occurrence of pulmonary tuberculosis.There is a significant positive correlation between the pulmonary tuberculosis syndrome score and various types of northwest dryness syndrome,among which the lung wei kong pi dryness syndrome,lung heart spleen wind fire dryness syndrome,and spleen stomach dampness syndrome have the most significant impact on the pulmonary nucleus syndrome score.
4.Predictive value of cerebroplacental ratio,cerebro-uterine ratio combined with cystatin C for adverse pregnancy outcomes in preeclampsia fetuses
Huan LU ; Tian TIAN ; Xue-hui WU ; Chun-mei ZHOU ; Xin-yu WU ; Wei LI
Journal of Regional Anatomy and Operative Surgery 2025;34(9):827-831
Objective To investigate the predictive value of cerebroplacental ratio(CPR),cerebro-uterine ratio(CUR)combined with cystatin C(CysC)for adverse pregnancy outcomes in preeclampsia(PE)fetuses.Methods A retrospective analysis was conducted on the clinical data of 150 PE patients admitted to the department of obstetrics and gynecology of Nuclear Industry 416 Hospital from January 2019 to December 2024,and patients were divided into the adverse-outcome group and the favorable-outcome group according to pregnancy outcomes.The clinical data,CPR,CUR and CysC level were compared between the two groups.Multivariate Logistic regression was used to analyze the independent influencing factors of adverse pregnancy outcome in PE patients;then,receiver operating characteristic(ROC)curve analysis was performed to evaluate the predictive efficiency of each index on adverse pregnancy outcome.Results The adverse-outcome group had shorter/lower gestational age at diagnosis,estimated fetal body weight,CUR,and CPR,but higher body mass index and CysC level compared to those in the favorable-outcome group,with significant differences(P<0.05).Multivariate Logistic regression identified that the elevated CysC level,and decreased CUR and CPR were related influencing factors for adverse pregnancy outcome(P<0.05).ROC curve analysis demonstrated that CUR,CPR and CysC had strong predictive value for adverse pregnancy outcome,with the area under the curve(AUC)of 0.802(95%CI:0.729 to 0.863),0.834(95%CI:0.764 to 0.890),and 0.791(95%CI:0.717 to 0.853),respectively;the combined prediction of CUR,CPR and CysC had grater AUC of 0.909(95%CI:0.851 to 0.950)than the individual prediction of the above three indicators(P<0.05).Conclusion CUR,CPR and CysC are influencing factors of adverse pregnancy outcome in PE patients,and their combined detection demonstrates good predictive value for adverse pregnancy outcome in PE patients.
5.Associations of Genetic Risk and Physical Activity with Incident Chronic Obstructive Pulmonary Disease: A Large Prospective Cohort Study.
Jin YANG ; Xiao Lin WANG ; Wen Fang ZHONG ; Jian GAO ; Huan CHEN ; Pei Liang CHEN ; Qing Mei HUANG ; Yi Xin ZHANG ; Fang Fei YOU ; Chuan LI ; Wei Qi SONG ; Dong SHEN ; Jiao Jiao REN ; Dan LIU ; Zhi Hao LI ; Chen MAO
Biomedical and Environmental Sciences 2025;38(10):1194-1204
OBJECTIVE:
To investigate the relationship between physical activity and genetic risk and their combined effects on the risk of developing chronic obstructive pulmonary disease.
METHODS:
This prospective cohort study included 318,085 biobank participants from the UK. Physical activity was assessed using the short form of the International Physical Activity Questionnaire. The participants were stratified into low-, intermediate-, and high-genetic-risk groups based on their polygenic risk scores. Multivariate Cox regression models and multiplicative interaction analyses were used.
RESULTS:
During a median follow-up period of 13 years, 9,209 participants were diagnosed with chronic obstructive pulmonary disease. For low genetic risk, compared to low physical activity, the hazard ratios ( HRs) for moderate and high physical activity were 0.853 (95% confidence interval [ CI]: 0.748-0.972) and 0.831 (95% CI: 0.727-0.950), respectively. For intermediate genetic risk, the HRs were 0.829 (95% CI: 0.758-0.905) and 0.835 (95% CI: 0.764-0.914), respectively. For participants with high genetic risk, the HRs were 0.809 (95% CI: 0.746-0.877) and 0.818 (95% CI: 0.754-0.888), respectively. A significant interaction was observed between genetic risk and physical activity.
CONCLUSION
Moderate or high levels of physical activity were associated with a lower risk of developing chronic obstructive pulmonary disease across all genetic risk groups, highlighting the need to tailor activity interventions for genetically susceptible individuals.
Humans
;
Pulmonary Disease, Chronic Obstructive/epidemiology*
;
Exercise
;
Male
;
Female
;
Middle Aged
;
Prospective Studies
;
Aged
;
Genetic Predisposition to Disease
;
Risk Factors
;
United Kingdom/epidemiology*
;
Incidence
;
Adult
6.Suppression of Hepatocellular Carcinoma through Apoptosis Induction by Total Alkaloids of Gelsemium elegans Benth.
Ming-Jing JIN ; Yan-Ping LI ; Huan-Si ZHOU ; Yu-Qian ZHAO ; Xiang-Pei ZHAO ; Mei YANG ; Mei-Jing QIN ; Chun-Hua LU
Chinese journal of integrative medicine 2025;31(9):792-801
OBJECTIVE:
To evaluate the anti-hepatocellular carcinoma (HCC) activity of total alkaloids from Gelsemium elegans Benth. (TAG) in vivo and in vitro and to elucidate their potential mechanisms of action through transcriptomic analysis.
METHODS:
TAG extraction was conducted, and the primary components were quantified using high-performance liquid chromatography (HPLC). The effects of TAG (100, 150, and 200 µg/mL) on various tumor cells, including SMMC-7721, HepG2, H22, CAL27, MCF7, HT29, and HCT116, were assessed. Effects of TAG on HCC proliferation and apoptosis were detected by colony formation assays and cell stainings. Caspase-3, Bcl-2, and Bax protein levels were detected by Western blotting. In vivo, a tumor xenograft model was developed using H22 cells. Totally 40 Kunming mice were randomly assigned to model, cyclophosphamide (20 mg/kg), TAG low-dose (TAG-L, 0.5 mg/kg), and TAG high-dose (TAG-H, 1 mg/kg) groups, with 10 mice in each group. Tumor volume, body weight, and tumor weight were recorded and compared during 14-day treatment. Immune organ index were calculated. Tissue changes were oberseved by hematoxylin and eosin staining and immunohistochemistry. Additionally, transcriptomic and metabolomic analyses, as well as quatitative real-time polymerase chain reaction (RT-qPCR), were performed to detect mRNA and metabolite expressions.
RESULTS:
HPLC successfully identified the components of TAG extraction. Live cell imaging and analysis, along with cell viability assays, demonstrated that TAG inhibited the proliferation of SMMC-7721, HepG2, H22, CAL27, MCF7, HT29, and HCT116 cells. Colony formation assays, Hoechst 33258 staining, Rhodamine 123 staining, and Western blotting revealed that TAG not only inhibited HCC proliferation but also promoted apoptosis (P<0.05). In vivo experiments showed that TAG inhibited the growth of solid tumors in HCC in mice (P<0.05). Transcriptomic analysis and RT-qPCR indicated that the inhibition of HCC by TAG was associated with the regulation of the key gene CXCL13.
CONCLUSION
TAG inhibits HCC both in vivo and in vitro, with its inhibitory effect linked to the regulation of the key gene CXCL13.
Animals
;
Apoptosis/drug effects*
;
Liver Neoplasms/genetics*
;
Carcinoma, Hepatocellular/genetics*
;
Humans
;
Alkaloids/therapeutic use*
;
Gelsemium/chemistry*
;
Cell Line, Tumor
;
Cell Proliferation/drug effects*
;
Mice
;
Xenograft Model Antitumor Assays
7.Application of different repair methods for defects after Mohs micrographic surgery for malignant tumors of the external nose.
Huilin LI ; Mei ZHENG ; Xiaolin WANG ; Huan QI ; Zhifei ZHANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(9):830-835
Objective:To observe the effects of different repair methods in the defects after Mohs surgical excision of malignant nasal tumors. Methods:Twenty-two cases of external nasal malignant tumor surgery from January 2021 to May 2024 were selected as the research. The tumors were resected using Mohs surgical technique, and the defects were repaired using forehead axial flap, bipedicle flap, nasolabial flap, free full-thickness skin graft from the groin, forehead axial flap, facial kite flap, and composite flap of earlobe cartilage and perichond. The postoperative flap survival, external nasal morphology, and tumor recurrence were observed. Results:Among the 22 cases, there were 1 case of Kaposis sarcoma(KS), 2 cases of squ cell carcinoma, and 19 cases of basal cell carcinoma. Tumors were located at the nasal root in 3 cases, the nasal dorsum in5 cases, the nasal tip in 2 cases, the ala in 8 cases, both the ala and the nasal dorsum in 2 cases, nasal columella, the nasal tip, and the ala in 1 case, the nasal tip, the nasal dorsum, the ala, and paranasal area in 1 case. The size of the defects ranged from 1.2 cm×1.4 cm to 3.7 cm×4.8 cm. Three cases were repaired with forehead axial flaps, four cases with bilobed flaps, thirteen cases with nasolabial groove flaps, one case with free full-thickness skin grafts from the inguinal region, and one case with a combination of forehead axial flaps and facial kite flaps plus a composite of earlobe cartilage and perichondrium. All flaps survived well after surgery. Patients were followed up for 6 months to 3 years after surgery, during which no tumor recurrence was observed, and most patients were satisfied with appearance of their nose. Conclusion:Mohs surgery is used to excise the malignant tumor of the external nose, and satisfactory surgical results can be obtained by using different repair methods based the location and size of the postoperative defect.
Humans
;
Mohs Surgery/methods*
;
Nose Neoplasms/surgery*
;
Surgical Flaps
;
Skin Transplantation
;
Male
;
Carcinoma, Basal Cell/surgery*
;
Skin Neoplasms/surgery*
;
Female
;
Middle Aged
;
Plastic Surgery Procedures/methods*
;
Nose/surgery*
;
Aged
;
Adult
;
Carcinoma, Squamous Cell/surgery*
8.Impact of bladder volume on dosimetry of CTV and OAR in localized prostate cancer treated with proton therapy
Danni WANG ; Huan LI ; Cheng XU ; Wendong FAN ; Mei CHEN ; Xiaofang QIAN ; Dawei QIN ; Chensheng SHI ; Ruozhui ZHAO ; Weixiang QI ; Qiyun HUANG ; Jiayi CHEN ; Lu CAO
Chinese Journal of Radiation Oncology 2024;33(6):524-531
Objective:To evaluate the impact of bladder volume on dosimetric parameters of clinical target volume (CTV) and organs at risk (OAR) of intensity modulated proton therapy (IMPT) for localized prostate cancer during the treatment planning and daily treatment.Methods:Clinical data of 25 patients with localized prostate cancer admitted to Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine from November 2021 to June 2022 and enrolled in the "Proton Therapy System" (SAPT-PS-01) registered clinical trial were retrospectively analyzed. All patients were male and the median age was 72 years old. A total of 30 sets of IMPT plans were obtained. Based on the planning CT (30 sets) and weekly verification CT during treatment (172 sets), bladder volume, CTV and OAR dose parameters were collected. Spearman correlation analysis was used to evaluate the correlation between bladder volume in CT and the dosimetric parameters of CTV and OAR during IMPT plans, and Wilcoxon-Mann-Whitney test was adopted to compare the dosimetric parameters of CTV and OAR among different bladder volume change groups.Results:The V 95% of CTV1 and CTV2 were both 100.0%±0.0% in IMPT plans. Bladder volume was significantly negatively correlated with D mean, V 70 Gy(RBE), V 60 Gy(RBE), V 50 Gy(RBE), V 40 Gy(RBE) of the bladder ( P<0.001, 0.003, <0.001, <0.001,<0.001), and D mean, V 50 Gy(RBE) of the small intestine (both P<0.001). During treatment, bladder D mean, V 70 Gy(RBE), V 60 Gy(RBE), V 50 Gy(RBE), V 40 Gy(RBE)( P<0.001, 0.001, <0.001, <0.001, <0.001), rectal D mean, V 50 Gy(RBE), V 40 Gy(RBE) (all P<0.001), small intestine D mean, V 50 Gy (RBE) (both P<0.001) of patients with bladder volume increase >20% compared to baseline were significantly decreased compared to those in IMPT plans. But CTV1 V 100%, and CTV2 V 95% were significantly decreased too( P=0.029, 0.020). In the bladder volume decreased>20% patients, the D mean, V 70 Gy(RBE), V 60 Gy(RBE), V 50 Gy(RBE), V 40 Gy(RBE) of the bladder were significantly increased compared to those in IMPT plans (all P<0.001). However, a bladder volume reduction of ≤20% and increase of ≤20% from baseline had no significant impact on CTV and OAR dosimetric parameters during treatment. Conclusions:For patients with localized prostate cancer undergoing proton therapy, a certain bladder volume should be ensured during planning CT scans. During the daily treatment, the bladder volume should be maintained between 80%-120% of the baseline level to ensure CTV coverage and good dose sparing to OAR.
9.Nonlinear mixed-effects modeling method for evaluating dose-response relationship of 99Tc m-DMSA in pediatric renal static imaging
Lisi XIE ; Min WU ; Zhaoyang WANG ; Lei FANG ; Tao LIU ; Mei LI ; Huan LI ; Fang WANG ; Yang WANG
Chinese Journal of Nuclear Medicine and Molecular Imaging 2024;44(12):724-729
Objective:To analyze the dose-response relationship of 99Tc m-dimercaptosuccinic acid (DMSA) in pediatric renal static imaging. Methods:A retrospective analysis of children (model group: n=199, 81 males, 118 females; validation group: n=30, 13 males, 17 females; all age: 1 month-14 years) who underwent 99Tc m-DMSA renal static imaging from January 2022 to November 2023 in Wuhan Children′s Hospital, Tongji Medical College, Huazhong University of Science and Technology were conducted. Post-administration radiation counts and related clinical data were collected. Imaging quality was evaluated using visual analogue scoring (VAS). ROC curve analysis was used to assess the relationship between radiation count intensity (RCI) and imaging quality. A nonlinear mixed-effects modeling method was employed to establish the dose-response relationship for 99Tc m-DMSA in pediatric renal static imaging. Internal and external validations of the model were performed. Final model was utilized to evaluate patient dosing protocols. Results:Body weight was considered as a significant determinant of the dose-response relationship in 99Tc m-DMSA renal static imaging( χ2 values: 120.79, 116.36, both P<0.05). ROC curve analysis showed that the quality of diagnostic images was acceptable when the anterior renal RCI was ≥32.61 (cut-point) and the posterior renal RCI was ≥35.46 (cut-point). Both internal and external validation results demonstrated that the dose-response model established exhibited good prediction performance. Based on the final model graph, the image quality could meet the requirements for clinical diagnosis. Conclusions:The 99Tc m-DMSA dose-response model for pediatric renal static imaging is successfully established. Individualized dosage based on the model can provide a reference for clinical individualized dosing decision-making.
10.Genetic and clinical analysis of a child with Shwachman-Diamond syndrome due to compound heterozygous variants of SBDS gene
Suli LI ; Zhidan YU ; Fang ZHOU ; Huan WANG ; Yuesheng WANG ; Shiyue MEI ; Xiaoqin LI
Chinese Journal of Medical Genetics 2024;41(2):209-214
Objective:To analyze the clinical features and genetic characteristics of a patient with Shwachman-Diamond syndrome (SDS) due to compound heterozygous variants of SBDS gene.Methods:A female child with SDS who was admitted to the Children's Hospital Affiliated to Zhengzhou University in February 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her elder sister and parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:The child, a 1-year-and-1-month-old girl, had mainly manifested with diarrhea, hematochezia, growth retardation and malnutrition, along with increased transaminases and decreased neutrophils and hemoglobin. The anteroposterior X-ray of her left wrist indicated significantly delayed bone age. Colonoscopy revealed that her colorectal mucosa was erosive with oily food residues attached to the intestinal lumen. Genetic testing revealed that she has harbored c. 258+ 2T>C and c. 100A>G compound heterozygous variants of the SBDS gene. The c. 258+ 2T>C variant has derived from her father and known to be pathogenic, whilst the other has derived from her mother. Based on the guidelines from the American College of Medical Genetics and Genomics, the c. 100A>G variant was classified as likely pathogenic (PM1+ PM2_Supporting+ PM3+ PM5+ PP3). Conclusion:The compound heterozygous variants of c. 258+ 2T>C and c. 100A>G probably underlay the SDS in this child. For children with refractory diarrhea, liver damage and growth retardation, SDS should be suspected, and genetic testing can facilitate the diagnosis and treatment.

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