1.Naringin inhibits iron deposition and cell apoptosis in bone tissue of osteoporotic rats
Shuangli LAN ; Feifan XIANG ; Guanghui DENG ; Yukun XIAO ; Yunkang YANG ; Jie LIANG
Chinese Journal of Tissue Engineering Research 2025;29(5):888-898
BACKGROUND:It has been found that abnormal apoptosis of bone tissue cells induced by abnormal iron metabolism plays an important role in the progression of osteoporosis. OBJECTIVE:To investigate the effect of naringin on iron metabolism and cell apoptosis in bone tissue of rats with osteoporosis. METHODS:Fifty 2-month-old female Sprague-Dawley rats were randomly divided into five groups with 10 rats in each group:sham group,osteoporosis group,naringin low-dose group,naringin high-dose group,and naringin high-dose+DKK-1 group.Except for the sham group,rat models of osteoporosis were established by removing bilateral ovarian tissues in the other groups.At 8 weeks after modeling,rats in the naringin low-and high-dose groups were given 100 and 400 mg/kg/d naringenin by gavage,respectively,and rats in the naringenin high dose+DKK-1 group were given 400 mg/kg/d naringin by gavage and subcutaneous injection of 25 mg/kg/d DKK-1,an inhibitor of the Wnt1 signaling pathway,for 7 consecutive days.Relevant indexes were detected after administration. RESULTS AND CONCLUSION:Compared with the osteoporosis group,naringin could enhance the bone mineral density and serum calcium and superoxide dismutase levels in rats(P<0.05),and reduce the serum levels of osteocalcin,malondialdehyde,and phosphorus(P<0.05),while DKK-1 could partially inhibit the interventional effect of naringin(P<0.05).Results from Micro-CT scanning,hematoxylin-eosin and TUNEL staining showed that compared with the osteoporosis group,naringin significantly improved bone microstructure and reduced the rate of cell apoptosis,while DKK-1 partially inhibited the interventional effect of naringin.Immunofluorescence staining results showed that compared with the osteoporosis group,naringin could reduce the oxygen content,anti-tartaric acid phosphatase expression,and elevate the expression of alkaline phosphatase in active tibia tissues(P<0.05),while DKK-1 could partially inhibit the interventional effect of naringin(P<0.05).Results from Prussian blue staining and immunohistochemical staining showed that compared with the osteoporosis group,naringin reduced iron deposition in bone and liver tissues as well as the expression of transferrin receptor 1(P<0.05),and elevated the protein expression of ferroportin 1(P<0.05)in bone tissue,and DKK-1 partially inhibited the intervention of naringin(P<0.05).PCR and western blot assay of tibia specimens showed that compared with the osteoporosis group,naringin decreased the expression of anti-tartrate acid phosphatase,transferrin receptor 1 and Bax(P<0.05),and elevated the expression of alkaline phosphatase,ferroportin 1,Bcl-2,Wnt1 and β-catenin(P<0.05),while DKK-1 partially inhibited the interfering effect of naringin(P<0.05).To conclude,naringin inhibits the progression of osteoporosis by reducing iron deposition and apoptosis rate in bone tissue,which may be related to the activation of the Wnt1 signaling pathway.
2.Correlation between SLC17A1 single nucleotide polymorphism and susceptibility to hyperuricemia in automotive manufacturing workers
Yongxiang TANG ; Yanmei RUAN ; Xiaojuan LIANG ; Yanru LI ; Guanghui DONG
China Occupational Medicine 2025;52(2):129-134
Objective To investigate the correlation of solute carrier protein 17 family member 1 (SLC17A1) gene single nucleotide polymorphisms (SNPs) and susceptibility to hyperuricemia (HUA) in automotive manufacturing workers. Methods A total of 192 Han male workers diagnosed with HUA were selected as the case group, 192 Han male workers without HUA from the same enterprises were selected as the control group. These workers were determined by the matching factor of age, total length of service, and body mass index by the 1∶1 case-control study method. Peripheral venous blood from the workers was collected for DNA extraction. Two SNPs of SLC17A1 were genotyped by MassArray system. Results The gene frequency distributions of SLC17A1 rs2096386 and rs1183201 of workers in the control group were in consistent with the Hardy-Weinberg equilibrium test (both P>0.05). The allele frequency distribution of rs2096386, and the genotype and allele frequency distribution of rs1183201 were significantly different between workers in the two groups (all P<0.05). There was no significant difference in genotype frequency distribution of rs2096386 between workers in the two groups (P>0.05). The results of conditional logistic regression analysis showed that workers with G allele at rs2096386 increased the risk of HUA [odds ratio (OR)=1.43, 95% confidence interval (CI)=1.01-2.04], workers with T allele at rs1183201 increased the risk of HUA (OR=2.03, 95%CI =1.29-3.19), after adjusting for confounding factors such as serum creatinine, blood urea nitrogen, alanin aminotransferase and aspartate aminotransferase. While workers with TA and TA+AA genotypes at rs1183201 had a lower risk of HUA than those with TT genotype (OR=0.51, 95%CI =0.30-0.85; OR=0.50, 95%CI =0.30-0.83), workers with TA genotype at rs1183201 had a lower risk of HUA than those with TT+AA genotype (OR=0.53, 95%CI =0.32-0.88). Conclusion The polymorphisms at rs2096386 and rs1183201 of SLC17A1 gene may be correlated with HUA susceptibility among automobile manufacturing workers in Guangzhou City.
3.Weekly gestational weight gain in women with obesity and its association with risk of macrosomia
Wei SONG ; Wei ZHENG ; Xiaoxin WANG ; Cuimei GUO ; Shengnan LIANG ; Guanghui LI
Chinese Journal of Perinatal Medicine 2023;26(7):575-583
Objective:To explore the characteristics of weekly gestational weight gain (GWG) in women with obesity and its correlation with the risk of macrosomia.Methods:Clinical data of women with singleton pregnancy and pre-pregnancy body mass index (PPBMI) ≥28 kg/m 2 were retrospectively analyzed, from January 2014 to December 2019, in Beijing Obstetrics and Gynecology Hospital, Capital Medical University (Beijing Maternal and Child Health Care Hospital). The participants were divided into three groups based on their PPBMI: group A (28-<30 kg/m 2), group B (30-<32 kg/m 2), and group C (≥32 kg/m 2). The study compared the characteristics of GWG among the three groups, explored the correlation between the weekly weight gain during each gestational stage and the risk of macrosomia, and discussed the impacts of the GWG pattern in women with different PPBMI on the risk of macrosomia. Chi-square (or Fisher's exact), Kruskal-Wallis, and Mann-Whitney U tests were performed for statistical analysis. Multivariate logistic regression was used to analyze the impact of weekly weight gain in specific gestational stages on macrosomia. Results:(1) A total of 2 046 participants were included in the study, with 982 in group A, 588 in group B, and 476 in group C. For all of the 2 046 cases, the median PPBMI was 30.1 kg/m 2 (29.0-31.9 kg/m 2), GWG was 10.5 kg (7.3-14.0 kg), and neonatal birth weight was 3 520 g (3 215-3 816 g) with 60 (2.9%) ≥4 500 g, and the biggest baby weighed 5 580 g. Out of the births analyzed, macrosomia occurred in 318 cases (15.5%). (2) Among the three groups (A, B and C), the differences in maternal age [32.0 years (29.0-35.0 years), 32.0 years (29.0-35.0 years) and 32.0 years (29.0-34.0 years), H=6.58] and women with a history of type 2 diabetes mellitus [0.9% (9/982), 0.3% (2/588) and 1.9% (9/476), χ2=6.61] were statistically significant (all P<0.05). (3) The weekly weight gain in each group exhibited a gradual upward trend before 20-24 weeks, reached a plateau at 24-32 weeks, peaked at 32-36 weeks, and subsequently declined. The weekly weight gain of group A in the pre-pregnancy to 14 weeks [0.14 kg/week (0.00-0.25 kg/week)], 14 to 20 weeks [0.25 kg/week (0.17-0.42 kg/week)], and 20 to 24 weeks [0.38 kg/week (0.25-0.63 kg/week)] were higher than those of group B [0.07 kg/week (-0.03-0.21 kg/week), 0.25 kg/week (0.10-0.42 kg/week), and 0.38 kg/week (0.22-0.60 kg/week)], respectively ( Z value was-3.73,-2.16, and-2.01, all P<0.05). Likewise, the weekly weight gain of group B in the above three stages were all higher than those of group C [0.07 kg/week (-0.10-0.21 kg/week), 0.17 kg/week (0.05-0.33 kg/week), and 0.25 kg/week (0.08-0.50 kg/week)], respectively ( Z value was-2.55,-3.28, and-3.25, all P<0.05). (4) The risk of macrosomia increased with the weekly weight gain in specific gestational stages in different PPBMI groups. In group A, the stages correlated with increased risk were 14-20 weeks [adjusted odd ratio ( aOR)=2.669, 95% CI: 1.378-5.169] and 20-24 weeks ( aOR=1.764, 95% CI: 1.143-2.723), while the stages were 20-24 weeks ( aOR=2.149, 95% CI: 1.156-3.996) and 36 weeks until delivery ( aOR=1.888, 95% CI: 1.268-2.810) in group B, and pre-pregnancy to 14 weeks ( aOR=3.515, 95% CI: 1.158-10.665) and 14-20 weeks ( aOR=3.021, 95% CI: 1.058-8.628) in group C (all P<0.05). The risk of macrosomia increased when the weekly weight gain of both risk-related stages in group A ( aOR=2.255, 95% CI: 1.029-4.940) ≥50th percentile, and group B ( aOR=4.399, 95% CI: 1.017-19.023) ≥75th percentile, and for group C ( aOR=3.404, 95% CI: 1.004-11.543) when the weekly weight gain above 25th percentile (all P<0.05). Conclusions:Weekly GWG demonstrates an observable gradual acceleration pattern in women with obesity. Therefore, clinical attention should be directed towards monitoring fluctuations in the weekly weight gain in this population, as excessive weekly weight gain before 24 gestational weeks is associated with an elevated risk of macrosomia.
4.Application value of CT examination of lymph node short diameter in evaluating left recurrent laryngeal nerve lymph node metastasis in thoracic esophageal squamous cell carcinoma
Zhenxuan LI ; Xiaodong LI ; Yin LI ; Xianben LIU ; Yan ZHENG ; Haibo SUN ; Tao SONG ; Guanghui LIANG ; Dongfeng YUAN ; Wenqun XING
Chinese Journal of Digestive Surgery 2021;20(3):346-351
Objective:To investigate the application value of computed tomography (CT) examination of lymph node short diameter in evaluating left recurrent laryngeal nerve lymph node metastasis in thoracic esophageal squamous cell carcinoma.Methods:The retrospective and descriptive study was conducted. The clinicopathological data of 628 patients with thoracic esophageal squamous cell carcinoma who were admitted to 2 medical centers (236 cases in the Sun Yat-sen University Cancer Center and 392 cases in the Affiliated Cancer Hospital of Zhengzhou University) from October 2009 to December 2016 were collected. There were 462 males and 166 females, aged from 38 to 85 years, with a median age of 62 years. Observation indicators: (1) operation status, dissection and metastasis of left recurrent laryngeal nerve lymph node; (2) efficacy of CT examination of the left recurrent laryngeal nerve lymph node short diameter in evaluating postoperative lymph node metastasis; (3) determination of the optimal cut-off value; (4) examination results using different diagnostic criteria. Measurement data with skewed distribution were represented as M (range). Count data were described as absolute numbers or percentages. The area under curve (AUC) of receiver operating characteristic curve (ROC) was used to estimate the efficiency of detection methods. The maximum value of Youden index corresponded to the optimal cut-off point. Results:(1) Operation status, dissection and metastasis of left recurrent laryngeal nerve lymph node: among the 628 patients, there were 572 cases undergoing two-field lymph node dissection while 56 cases undergoing three-field lymph node dissection, there were 408 cases undergoing minimally invasive surgery while 220 cases undergoing open surgery. Sixty of 628 patients had left recurrent laryngeal nerve lymph node metastasis. A total of 1 666 left recurrent laryngeal nerve lymph nodes were dissected from the 628 patients, among which 75 were metastatic lymph nodes, with a metastasis rate of 4.502%(75/1 666). (2) Efficacy of CT examination of the left recurrent laryngeal nerve lymph node short diameter in evaluating postoperative lymph node metastasis: the AUC of CT examination of the left recurrent laryngeal nerve lymph node short diameter in predicting postoperative lymph node metastasis was 0.854 (95% confidence interval as 0.792 to 0.916, P<0.05). (3) Determination of the optimal cut-off value: the Youden indices were 0.556, 0.384, 0.258, 0.063 and 0.003 respectively when using 5 mm, 6 mm, 7 mm, 8 mm, 9 mm or 10 mm as the optimal cut-off value for CT examination of the left recurrent laryngeal nerve lymph node short diameter. The short diameter as 5 mm was the optimal cut-off value for CT examination of the left recurrent laryngeal nerve lymph node short diameter. (4) Examination results using different diagnostic criteria: the sensitivity, specificity, accuracy, positive predictive value, negative predictive value, cases being missed diagnosis were respectively 66.3%, 92.3%, 89.5%, 46.3%, 96.0%, 20 and 5.0%, 99.8%, 90.7%, 75.0%, 90.9%, 57 when using short diameter ≥5 mm or ≥10 mm in CT examination of the left recurrent laryngeal nerve lymph node as the diagnostic criteria for left recurrent laryngeal nerve lymph node metastasis of thoracic esophageal squamous cell carcinoma. Conclusions:CT examination of lymph node short diameter can be used to evaluate left recurrent laryngeal nerve lymph node metastasis in thoracic esophageal squamous cell carcinoma. The sensitivity, specificity and accuracy is preferable when using short diameter ≥5 mm in CT examina-tion of the left recurrent laryngeal nerve lymph node as the diagnostic criteria for left recurrent laryngeal nerve lymph node metastasis of thoracic esophageal squamous cell carcinoma.
5.Gestational weight gain and pregnancy outcome in women with a history of gestational diabetes mellitus
Xin LIANG ; Wei ZHENG ; Cheng LIU ; Lirui ZHANG ; Li ZHANG ; Zhihong TIAN ; Guanghui LI
Chinese Journal of Perinatal Medicine 2021;24(5):344-351
Objective:To explore the association of the total gestational weight gain (GWG) and GWG in different trimesters with adverse pregnancy outcomes during the second pregnancy in women with history of gestational diabetes mellitus (GDM).Methods:This retrospective cohort study recruited 441 singleton pregnant women with a history of GDM who gave birth at Beijing Obstetrics and Gynecology Hospital of Capital Medical University from January 2017 to December 2018 as the GDM history group. Another 1 637 singleton pregnant women without a history of GDM who gave birth at the same period were selected through the mechanical sampling method as the control group. Independent sample t-test and Chi-square test were used to compare the differences in general conditions, GWG and perinatal outcomes between the two groups. Based on the Institute of Medicine guidelines for GWG, the subjects were further divided into three subgroups: inadequate GWG, adequate GWG and excessive GWG groups. Multivariate logistic regression analysis was used to compare the pregnancy outcome in women with the same GWG in different periods of pregnancy between the two groups. Results:(1) Women with GDM history had lower GWG before and after oral glucose tolerance test (OGTT) and the whole pregnancy than those without [(6.3±3.3) vs (7.9±3.7) kg, (4.8±2.6) vs (5.6± 2.6) kg, (11.8±4.6) vs (14.4± 4.6) kg; t=8.074, 5.183, 10.277; all P<0.001]. The incidence of GDM, gestational hypertension, and large for gestational age (LGA) in the GDM history group were higher than those in the control group [46.5% (205/441) vs 18.1% (296/1 637), 8.4% (37/441) vs 5.4% (88/1 637), 12.9% (57/441) vs 9.7% (158/1 637); χ2=153.181, 5.583, 4.013; all P<0.05]. (2) Before OGTT: pregnant women with GDM history of different GWG categories had a higher risk of developing GDM [ OR and 95% CI for inadequate, adequate and excessive GWG were 4.02 (2.35-6.88), 3.92 (2.65-5.79) and 3.33 (2.11-5.25), respectively, all P<0.001]. Except for women with inadequate GWG, pregnancy with a history of GDM also had a higher risk of preeclampsia [ OR and 95% CI were 3.62 (1.47-9.23) and 2.22 (1.07-5.57) for adequate and excessive GWG, respectively, both P<0.05]. After OGTT: pregnant women with GDM history of different GWG categories had a higher risk of developing GDM [ OR and 95% CI for inadequate, adequate and excessive GWG were 2.48 (1.60-3.84), 4.63 (2.92-7.35) and 4.22 (2.73-6.51), respectively, all P<0.001]. Pregnant women with a history of GDM with excessive GWG had an increased risk of preeclampsia ( OR=2.46, 95% CI: 1.10-5.51, P<0.05). During pregnancy: pregnant women with GDM history of different GWG categories had a higher risk of developing GDM [ OR and 95% CI were 3.02(2.00-4.59), 4.08(2.76-6.04) and 2.66(1.54-4.59) for inadequate, adequate and excessive GWG, respectively, all P<0.001]. Women with GDM history had an increased risk of large for gestational age (LGA) in those with inadequate GWG and postpartum hemorrhage in those with excessive GWG [ OR and 95% CI were 1.94 (1.09-4.21) and 2.93 (1.31-6.55), respectively, both P<0.05]. Conclusions:The total GWG and GWG in different periods during the second pregnancy in women with a history of GDM are lower than those without, but with a higher risk of adverse outcomes. Even in women with the same range of GWG, GDM history still increases the risk of adverse pregnancy outcomes.
6.Maternal weight gain during pregnancy in obese women and its relationship with adverse pregnancy outcomes
Wei SONG ; Zhi ZHANG ; Shengnan LIANG ; Xiaoxin WANG ; Cuimei GUO ; Guanghui LI
Chinese Journal of Perinatal Medicine 2021;24(5):352-359
Objective:To analyze the maternal gestational weight gain (GWG) in women with pre-pregnancy obesity and its relationships with adverse pregnancy outcomes.Methods:This retrospective cohort study recruited 513 obese women (pre-pregnancy body mass index ≥30 kg/m 2) with singleton pregnancy in Beijing Obstetrics and Gynecology Hospital, Capital Medical University from January 2014 to December 2016. All participants were divided into three groups according to GWG: inadequate (GWG<5 kg, n=83), adequate (5 kg≤GWG≤9 kg, n=154), and excessive (GWG>9 kg, n=276) groups. Chi-square test, Fisher's exact test, Kruskal-Wallis test, and Mann-Whitney U test were used to compare the clinical data among the three groups, including GWG, pregnancy and neonatal outcomes, and labor process. Multivariate logistic regression was performed to analyze the association between maternal GWG and main pregnancy complications associated with obesity. Results:(1) Among 238 participants who gained more than 2.0 kg in the first trimester, 75.6% (180/238) were in the excessive group, while the rate was 34.9%(96/275) among the participants who gained less than 2.0 kg. (2) Postpartum body mass index retention (body mass index at six weeks postpartum minus pre-pregnancy body mass index) was the highest in the excessive group, followed by the adequate group and the inadequate group [0.8 kg/m 2 (0.0-2.2 kg/m 2) vs -0.7 kg/m 2 (-1.6 to 0.0 kg/m 2) vs -2.5 kg/m 2 (-3.2 to -1.5 kg/m 2), all P<0.05]. (3) The rates of primary cesarean section in the inadequate and adequate groups were 29.9% (20/67) and 32.6% (42/129), which were lower than that in the excessive group [43.3% (104/240), χ2=3.955 and 4.047, both P<0.05]. There were no statistically significant differences in the incidence of gestational hypertension, small/large for gestational age, or other major adverse pregnancy outcomes among the three groups (all P>0.05). The weight gain in the first trimester and before the oral glucose tolerance test were not correlated with gestational diabetes mellitus (GDM) ( aOR=1.038, 95% CI: 0.986-1.094, P=0.157; aOR=1.055, 95% CI: 1.000-1.113, P=0.051). The maternal weight gain of women with GDM during the 2nd, the 3rd, and the whole trimesters were lower than women without GDM respectively [3.0 kg (1.3-4.0 kg) vs 3.0 kg (2.0-5.0 kg), 4.0 kg (2.0-6.0 kg) vs 6.0 kg (4.0-8.0 kg), 9.0 kg (5.0-12.0 kg) vs 10.7 kg (7.5-15.0 kg); Z =-2.938, -6.352 and-4.104, all P<0.01]. Conclusions:In women with pre-pregnancy obesity, the first trimester is the critical window to control maternal GWG. GWG guidelines recommended by the Institute of Medicine could help to reduce the weight retention at six weeks postpartum, but couldn't reduce the risk of GDM, gestational hypertension, small/large for gestational age, or other major adverse pregnancy outcomes.
7.Expert Consensus for Thermal Ablation of Pulmonary Subsolid Nodules (2021 Edition).
Xin YE ; Weijun FAN ; Zhongmin WANG ; Junjie WANG ; Hui WANG ; Jun WANG ; Chuntang WANG ; Lizhi NIU ; Yong FANG ; Shanzhi GU ; Hui TIAN ; Baodong LIU ; Lou ZHONG ; Yiping ZHUANG ; Jiachang CHI ; Xichao SUN ; Nuo YANG ; Zhigang WEI ; Xiao LI ; Xiaoguang LI ; Yuliang LI ; Chunhai LI ; Yan LI ; Xia YANG ; Wuwei YANG ; Po YANG ; Zhengqiang YANG ; Yueyong XIAO ; Xiaoming SONG ; Kaixian ZHANG ; Shilin CHEN ; Weisheng CHEN ; Zhengyu LIN ; Dianjie LIN ; Zhiqiang MENG ; Xiaojing ZHAO ; Kaiwen HU ; Chen LIU ; Cheng LIU ; Chundong GU ; Dong XU ; Yong HUANG ; Guanghui HUANG ; Zhongmin PENG ; Liang DONG ; Lei JIANG ; Yue HAN ; Qingshi ZENG ; Yong JIN ; Guangyan LEI ; Bo ZHAI ; Hailiang LI ; Jie PAN
Chinese Journal of Lung Cancer 2021;24(5):305-322
"The Expert Group on Tumor Ablation Therapy of Chinese Medical Doctor Association, The Tumor Ablation Committee of Chinese College of Interventionalists, The Society of Tumor Ablation Therapy of Chinese Anti-Cancer Association and The Ablation Expert Committee of the Chinese Society of Clinical Oncology" have organized multidisciplinary experts to formulate the consensus for thermal ablation of pulmonary subsolid nodules or ground-glass nodule (GGN). The expert consensus reviews current literatures and provides clinical practices for thermal ablation of GGN. The main contents include: (1) clinical evaluation of GGN, (2) procedures, indications, contraindications, outcomes evaluation and related complications of thermal ablation for GGN and (3) future development directions.
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8.Predictors of testicular injury secondary to incarcerated inguinal Hernia in children
Bingshan XIA ; Xiaohua LIANG ; Chao WEI ; Qingtao ZHONG ; Xuan WANG ; Xing LIU ; Yi WANG ; Tao LIN ; Dawei HE ; Deying ZHANG ; Guanghui WEI
Chinese Journal of Endocrine Surgery 2021;15(1):89-93
Objective:To find out predictors of the testicular ischemia caused by incarcerated inguinal hernia and evaluate the ischemic injury of the testis more accurately, which can indicate testicle exploration in time or prevent unnecessary testicle exploration.Methods:Pediatric patients (median: 9 months) undergoing operation of unilateral incarcerated inguinal hernia and ipsilateral testicular exploration from 1 Jul. 2013 to 30 Jun. 2019 were retrospectively investigated. Age at surgery, incarcerate duration, degree of intestinal and testicular injury, times of manual reduction and preoperative ultrasound data were collected. Statistical analysis was performed by SAS 9.4 (Copyright ? 2016 SAS Institute Inc.Cary, NC, USA) .Results:460 patients (median: 9 months) , of which 57 (12.39%) (median: 1.4 months, interquartile range 0.8-10.7 months) had severe testicular injury, and their average incarceration time was (23.9±9.3) h. Univariate logistic regression revealed that increased times of manual reduction, ultrasound scores, incarcerate duration and degree of intestinal injury were positively correlated with the degree of testicular ischemia, while age at surgery was negatively correlated with the degree of testicular ischemia ( P<0.05) . A model for calculating the probability of severe testicular ischemia injury was established: P= through multivariate analysis with backward stepwise logistic regression and 10-fold cross-validation was used for preliminary verification of the model. Conclusion:This study provides a relative reliable model to predict the risk of irreversible testicular ischemia due to incarcerated inguinal hernia using readily available clinical characteristics in young pediatrics with testicular ischemia.
9. Genotypes and phenotypes of nine Uygur children with osteogenesis imperfecta in Xinjiang
Yanfei LUO ; Julaiti DILIHUMA ; Guanghui SUN ; Baoerhan REYILANMU ; Ling LIANG ; Xingyue DU ; Maimaiti MIREGULI
Chinese Journal of Pediatrics 2020;58(2):135-139
Objective:
To explore the genotypes and phenotypes of osteogenesis imperfecta (OI) in Xinjiang Uygur children.
Methods:
The history of nine Uygur children with OI who were hospitalized in First Affiliated Hospital of Xinjiang Medical University from January 2013 to December 2017 were retrospectively reviewed. They were classified into 4 types according to the classical Sillence classification. The genes associated with OI were detected, and the pathogenic variation was assessed by InterVar and Alamut software according to the American College of Medical Genetics and Genomics (ACMG) recommendations. The phenotypes of children with different genotypes were further analyzed.
Results:
Nine cases aged 3 years and 6 monthes to 15 years were all clinically diagnosed as OI, the clinical manifes tations were repeated fractures, skeletal deformities,short stature, blue sclera, abnormol hearing, hypoplasia of dentin, and relaxation of Joint ligaments, among whom 6 was type Ⅲ OI, 3 were type Ⅳ OI. Nine mutations in 3 genes (COL1A1, COL1A2, and SERPINF1) were detected, and 5 of them were first reported and were all pathogenic variations.
Conclusions
The cinical phenotypes of osteogenesis imperfecta in Xinjiang Uygur are complex and varied, but all of them have fractures and skeletal deformities. Genotype is different from that reported at China and abroad, and the SERPINF1 gene may have a higher incidence in Uyghur population. The genetic heterogeneity and unique gene variation pedigree of Uyghur osteogenesis imperfecta defects further provide a basis for the correlation between genotype and phenotype of osteogenesis defects.
10.Preliminary results of multicenter studies on ABO-incompatible kidney transplantation
Hongtao JIANG ; Tao LI ; Kun REN ; Xiaohua YU ; Yi WANG ; Shanbin ZHANG ; Desheng LI ; Huiling GAN ; Houqin LIU ; Liang XU ; Zhigang LUO ; Peigen GUI ; Xiangfang TAN ; Bingyi SHI ; Ming CAI ; Xiang LI ; Junnan XU ; Liang XU ; Tao LIN ; Xianding WANG ; Hongtao LIU ; Lexi ZHANG ; Jianyong WU ; Wenhua LEI ; Jiang QIU ; Guodong CHEN ; Jun LI ; Gang HUANG ; Chenglin WU ; Changxi WANG ; Lizhong CHEN ; Zheng CHEN ; Jiali FANG ; Xiaoming ZHANG ; Tongyi MEN ; Xianduo LI ; Chunbo MO ; Zhen WANG ; Xiaofeng SHI ; Guanghui PEI ; Jinpeng TU ; Xiaopeng HU ; Xiaodong ZHANG ; Ning LI ; Shaohua SHI ; Hua CHEN ; Zhenxing WANG ; Weiguo SUI ; Ying LI ; Qiang YAN ; Huaizhou CHEN ; Liusheng LAI ; Jinfeng LI ; Wenjun SHANG ; Guiwen FENG ; Gang CHEN ; Fanjun ZENG ; Lan ZHU ; Jun FANG ; Ruiming RONG ; Xuanchuan WANG ; Guisheng QI ; Qiang WANG ; Puxun TIAN ; Yang LI ; Xiaohui TIAN ; Heli XIANG ; Xiaoming PAN ; Xiaoming DING ; Wujun XUE ; Jiqiu WEN ; Xiaosong XU
Chinese Journal of Organ Transplantation 2020;41(5):259-264
Objective:To summarize the patient profiles and therapeutic efficacies of ABO-incompatible living-related kidney transplantations at 19 domestic transplant centers and provide rationales for clinical application of ABOi-KT.Methods:Clinical cases of ABO-incompatible/compatible kidney transplantation (ABOi-KT/ABOc-KT) from December 2006 to December 2009 were collected. Then, statistical analyses were conducted from the aspects of tissue matching, perioperative managements, complications and survival rates of renal allograft or recipients.Results:Clinical data of 342 ABOi-KT and 779 ABOc-KT indicated that (1) no inter-group differences existed in age, body mass index (BMI), donor-recipient relationship or waiting time of pre-operative dialysis; (2) ABO blood type: blood type O recipients had the longest waiting list and transplantations from blood type A to blood type O accounted for the largest proportion; (3) HLA matching: no statistical significance existed in mismatch rate or positive rate of PRA I/II between two types of surgery; (4) CD20 should be properly used on the basis of different phrases; (5) hemorrhage was a common complication during an early postoperative period and microthrombosis appeared later; (6) no difference existed in postoperative incidence of complications or survival rate of renal allograft and recipients at 1/3/5/10 years between ABOi-KT and ABOc-KT. The acute rejection rate and serum creatinine levels of ABOi-KT recipients were comparable to those of ABOc-KT recipients within 1 year.Conclusions:ABOi-KT is both safe and effective so that it may be applied at all transplant centers as needed.

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