1.Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdeletion Syndrome
Yongmei SHEN ; Yaqi LI ; Xiaomin ZHAO ; Lei ZHANG ; Liying YAO ; Jiasong CAO ; Qimei LIN ; Hefei WANG ; Maolin NIE ; Rongxin WEI ; Ying CHANG
Maternal-Fetal Medicine 2025;07(3):151-156
Objective::To analyze fetal renal abnormality genetic features and the prenatal characteristics of the 17q12 microdeletion syndrome.Methods::This prospective cohort study examined prenatal ultrasound findings of renal abnormalities in pregnant women who underwent single nucleotide polymorphism (SNP) array or copy number variation sequencing (CNV-seq) testing on amniotic fluid or fetal tissue at Tianjin Central Obstetrics and Gynecology Hospital between January 2016 and August 2022. The study cohort comprised women with advanced maternal age, fetal ultrasound anomalies, high-risk non-invasive prenatal testing results, or suspected 17q12 microdeletion syndrome. Comprehensive clinical data, including maternal age, detailed ultrasound findings, and pregnancy outcomes, were systematically collected. SNP-array analysis was conducted using an Affymetrix CytoScan 750 K Array Chip to identify CNVs and loss of heterozygosity, while CNV-seq was performed on the Illumina HiSeq 2000 platform. Detected variants were classified according to the American College of Medical Genetics and Genomics guidelines. Statistical analyses were performed using SPSS version 27.0.Results::Abnormal renal development was identified in 141 patients, among whom 26 exhibited hyperechogenic kidneys (HCK). Of these, 12 cases were associated with 17q12 microdeletion syndrome, while the remaining 14 were linked to other chromosomal abnormalities. When excluding patients with HCK, those diagnosed with polycystic kidney disease demonstrated a higher prevalence of chromosomal abnormalities compared to those with multicystic dysplastic kidney and renal dysplasia. Although isolated conditions such as horseshoe kidney, hydronephrosis, ectopic kidney, and unilateral kidney typically presented with normal chromosomal findings, the incidence of chromosomal abnormalities increased when these conditions coexisted with other anomalies. A detailed analysis of the correlation between 17q12 microdeletion syndrome and HCK revealed that 12 out of the 14 patients diagnosed with 17q12 microdeletion syndrome exhibited HCK. Genetic testing confirmed the syndrome in seven patients, with five cases attributed to novel mutations and two cases resulting from inherited mutations.Conclusion::Fetal HCK was closely associated with the 17q12 microdeletion syndrome, and polycystic kidney disease showed a higher rate of chromosomal abnormalities. Chromosome test results were mostly normal in patients with other renal abnormalities, such as kidney dysplasia, horseshoe kidneys, hydronephrosis, kidney deficiency, and ectopic kidneys. Prenatal diagnosis is recommended, especially in cases of non-isolated fetal renal abnormalities. This study provides strong evidence supporting a link between fetal renal abnormalities and genetic syndromes.
2.Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdeletion Syndrome
Yongmei SHEN ; Yaqi LI ; Xiaomin ZHAO ; Lei ZHANG ; Liying YAO ; Jiasong CAO ; Qimei LIN ; Hefei WANG ; Maolin NIE ; Rongxin WEI ; Ying CHANG
Maternal-Fetal Medicine 2025;07(3):151-156
Objective::To analyze fetal renal abnormality genetic features and the prenatal characteristics of the 17q12 microdeletion syndrome.Methods::This prospective cohort study examined prenatal ultrasound findings of renal abnormalities in pregnant women who underwent single nucleotide polymorphism (SNP) array or copy number variation sequencing (CNV-seq) testing on amniotic fluid or fetal tissue at Tianjin Central Obstetrics and Gynecology Hospital between January 2016 and August 2022. The study cohort comprised women with advanced maternal age, fetal ultrasound anomalies, high-risk non-invasive prenatal testing results, or suspected 17q12 microdeletion syndrome. Comprehensive clinical data, including maternal age, detailed ultrasound findings, and pregnancy outcomes, were systematically collected. SNP-array analysis was conducted using an Affymetrix CytoScan 750 K Array Chip to identify CNVs and loss of heterozygosity, while CNV-seq was performed on the Illumina HiSeq 2000 platform. Detected variants were classified according to the American College of Medical Genetics and Genomics guidelines. Statistical analyses were performed using SPSS version 27.0.Results::Abnormal renal development was identified in 141 patients, among whom 26 exhibited hyperechogenic kidneys (HCK). Of these, 12 cases were associated with 17q12 microdeletion syndrome, while the remaining 14 were linked to other chromosomal abnormalities. When excluding patients with HCK, those diagnosed with polycystic kidney disease demonstrated a higher prevalence of chromosomal abnormalities compared to those with multicystic dysplastic kidney and renal dysplasia. Although isolated conditions such as horseshoe kidney, hydronephrosis, ectopic kidney, and unilateral kidney typically presented with normal chromosomal findings, the incidence of chromosomal abnormalities increased when these conditions coexisted with other anomalies. A detailed analysis of the correlation between 17q12 microdeletion syndrome and HCK revealed that 12 out of the 14 patients diagnosed with 17q12 microdeletion syndrome exhibited HCK. Genetic testing confirmed the syndrome in seven patients, with five cases attributed to novel mutations and two cases resulting from inherited mutations.Conclusion::Fetal HCK was closely associated with the 17q12 microdeletion syndrome, and polycystic kidney disease showed a higher rate of chromosomal abnormalities. Chromosome test results were mostly normal in patients with other renal abnormalities, such as kidney dysplasia, horseshoe kidneys, hydronephrosis, kidney deficiency, and ectopic kidneys. Prenatal diagnosis is recommended, especially in cases of non-isolated fetal renal abnormalities. This study provides strong evidence supporting a link between fetal renal abnormalities and genetic syndromes.
3.Impact of optimizing stroke green channel on treatment efficiency of acute ischemic stroke treatment efficiency in a county hospital
Yao WANG ; Lei SHI ; Guangbu LI ; Qiyun ZHU ; Xiaoqiang WU ; Maolin LU ; Haiyang LIN ; Wei QI ; Wei GAO ; Ruiyin ZHOU ; Qifeng LU ; Baodong WU
Chinese Journal of Clinical Medicine 2024;31(6):971-976
Objective To evaluate the impact of optimizing the stroke green channel on the efficiency of acute ischemic stroke management in a county hospital. Methods A retrospective analysis of the emergency stroke green channel treatment data from Sixian People’s Hospital from May 2020 to April 2021 (before optimization of the green channel) and from May 2021 to April 2022 (after optimization of the green channel) was conducted. The rates of intravenous thrombolysis (IVT) and mechanical thrombectomy (MT) patients, as well as door-to-needle time (DNT), door-to-puncture time (DPT), and the modified Rankin scale (mRS) scores of patients three months post-treatment before and after the optimization of the stroke green channel were compared. Results Within one year before and after optimization of the green channel, the number of acute visits for ischemic stroke was 3 143 and 2 623, respectively. Before optimization, 84 and 51 underwent IVT and MT, respectively. After optimization of the green channel, the ratios of patients underwent IVT (n=215) and MT (n=103) significantly increased, and both DNT and DPT were significantly shortened (P<0.000 1); the proportion of MT patients with an mRS score of 0-2 at 3 months post-discharge significantly increased (46/99 vs 13/46, P=0.038). Conclusion After optimizing the green channel at Sixian People’s Hospital, the efficiency of stroke treatment has significantly improved, and the patients’ prognosis improved.
4.The impact of different experienced radiologists on the diagnostic efficiency of MRI protocol for prostate cancer
Qian ZHANG ; Lei SHEN ; Maolin XU ; Jiangdong CHU ; Yue CHEN ; Yu ZHANG
Journal of Practical Radiology 2024;40(8):1320-1324
Objective To compare the diagnostic efficacy of biparametric magnetic resonance imaging(bp-MRI)and multiparametric magnetic resonance imaging(mp-MRI)for prostate cancer among radiologists with different levels of experience.Methods A retrospective analysis was conducted on MRI data of 112 suspected prostate cancer patients.Six radiologists(2 in the primary,intermediate,and advanced groups)used the bp-MRI and mp-MRI protocol scores to analyze the diagnostic efficacy.Results The area under the curve(AUC)of diagnostic efficacy in the advanced group of the bp-MRI protocol was greater than that in the intermediate group(P=0.024),and the intermediate group was greater than that in the primary group(P=0.046).The intermediate group of the mp-MRI protocol was greater than the primary group(P=0.043),while there was no difference between the intermediate and advanced groups(P=0.221).As the experience of the radiologists increased,sensitivity also increased,but there was no significant change in specificity.There was no difference between the two protocols in the advanced group(AUC=0.826-0.866;P>0.05);while the mp-MRI protocol performance was better in the primary and intermediate groups(AUC=0.705-0.815;P<0.05).Conclusion Experienced radiologists can choose the bp-MRI protocol,while inexperienced radiologists are more suitable for the mp-MRI protocol.Based on the accumulated experience of radiologists,protocol optimization and adjustment can be carried out at appropriate times.
5.Expert Consensus on the Application of Free Polyfoliate Perforator Flaps
Juyu TANG ; Yixin ZHANG ; Shimin ZHANG ; Yongjun RUI ; Xiaoheng DING ; Xin WANG ; Lei XU ; Guangyue ZHAO ; Shuming ZHANG ; Qingtang ZHU ; Shanlin CHEN ; Wenjun LI ; Xinyu FAN ; Xianyou ZHENG ; Shihui GU ; Panfeng WU ; Jie ZHAN ; Yaping LIU ; Xiaoju ZHENG ; Xing ZHANG ; Lu YIN ; Fang YU ; Liming QING ; Songlin XIE ; Mingjiang LIU ; Jun LIU ; Xiaodan XIA ; Kuangwen LI ; Fei LIU ; Zengtao WANG ; Huaqiao WANG ; Guangtai MU ; Maolin TANG ; Yongqing XU ; Liqiang GU ; Dachuan XU ; Chunlin HOU
Chinese Journal of Microsurgery 2024;47(6):601-610
The polyfoliate perforator flap is a new type of flap that was developed on the basis of the traditional polyfoliate myocutaneous flap, polyfoliate fascial flap and perforator flap. It overturns the traditional idea that the deep fascial vascular network is the fundamental for a survival of the flap, and enables the flaps to achieve the best profile and function of the recipient areas with minimal damage to the donor area. In order to improve the understanding of the polyfoliate perforator flap and further standardise its clinical application, this paper forms a consensus on the definition, classification, indications, operative points and precautions of the polyfoliate perforator flap, so as to provide references in diagnosis and treatment process and practical application for the surgeons.
6.Expert Consensus on the Application of Free Polyfoliate Perforator Flaps
Juyu TANG ; Yixin ZHANG ; Shimin ZHANG ; Yongjun RUI ; Xiaoheng DING ; Xin WANG ; Lei XU ; Guangyue ZHAO ; Shuming ZHANG ; Qingtang ZHU ; Shanlin CHEN ; Wenjun LI ; Xinyu FAN ; Xianyou ZHENG ; Shihui GU ; Panfeng WU ; Jie ZHAN ; Yaping LIU ; Xiaoju ZHENG ; Xing ZHANG ; Lu YIN ; Fang YU ; Liming QING ; Songlin XIE ; Mingjiang LIU ; Jun LIU ; Xiaodan XIA ; Kuangwen LI ; Fei LIU ; Zengtao WANG ; Huaqiao WANG ; Guangtai MU ; Maolin TANG ; Yongqing XU ; Liqiang GU ; Dachuan XU ; Chunlin HOU
Chinese Journal of Microsurgery 2024;47(6):601-610
The polyfoliate perforator flap is a new type of flap that was developed on the basis of the traditional polyfoliate myocutaneous flap, polyfoliate fascial flap and perforator flap. It overturns the traditional idea that the deep fascial vascular network is the fundamental for a survival of the flap, and enables the flaps to achieve the best profile and function of the recipient areas with minimal damage to the donor area. In order to improve the understanding of the polyfoliate perforator flap and further standardise its clinical application, this paper forms a consensus on the definition, classification, indications, operative points and precautions of the polyfoliate perforator flap, so as to provide references in diagnosis and treatment process and practical application for the surgeons.
7.Role of PKCδ and Nrf2 expression in liver injury of arsenic poisoning rats induced through coal-burning
Yong HU ; Shengli WANG ; Lei WANG ; Chun YU ; Maolin YAO ; Aihua ZHANG
Chinese Journal of Endemiology 2019;38(5):375-380
Objective To observe the expression of Protein Kinase C Delta (PKCδ) and NF-E2-related factor 2 (Nrf2) in the liver of arsenic poisoning rats induced by coal-burning,and explore their roles.Methods According to body weight (80-100 g),thirty Wistar rats (half male half female) were divided into five groups of 6 each using random number table method,the control group,and drinking arsenic,low,medium and high arsenic contaminated grain groups.The control group was fed normally for 3 months;drinking arsenic,low,medium and high arsenic contaminated grain groups were fed respectively with 100 mg/L As2O3 solution and different concentrations of arsenic-containing feed (25,50 and 100 mg/kg).At the end of the experiment period,non-anticoagulant whole blood 2 ml from peripheral vein was collected.Malondialdehyde (MDA) contents,activities of superoxide dismutase 1 (SOD1) and glutathione peroxidase (GPx) were detected.After sacrificing the animals,the liver was separated and then diacylglycerol (DAG) contents,mRNA and protein expressions of PKCδ and Nrf2 were determined,and the correlation was analyzed by Pearson.Results There were significant differences in serum MDA contents,SOD1 and GPx activities among groups (F =26.441,3.327,120.645,P < 0.05).The serum MDA contents in arsenic-exposed groups were higher than that of the control group (P < 0.05).However,activities of SOD1 and GPx1 were lower than those in the control group (P < 0.05).There were significant differences in liver DAG contents,Nrf2 mRNA expression levels among groups (F =8.237,8.656,P < 0.05).DAG contents in the liver tissues of the drinking arsenic,low,medium and high arsenic contaminated grain groups were respectively (2.67 ± 0.25),(2.36 ± 0.19),(2.54 ± 0.22) and (2.69 ± 0.32) μg/L,which were significantly higher than that in the control group [(2.05 ± 0.24) μg/L,P < 0.05].The expression levels of Nrf2 mRNA in liver tissue were respectively 1.16 ± 0.09,1.09 ± 1.20,1.14 ± 0.15 and 1.27 ± 0.16,which were higher than that in the control group (0.94 ± 0.08,P < 0.05).There were significant differences in the expression of pPKCδ protein in the cell membrane and cytoplasm of liver tissue between groups (F =15.925,6.699,P < 0.05).The protein expression levels of pPKCδ in the cell membrane of liver tissue were 0.49 ± 0.06,0.33 ± 0.05,0.37 ± 0.06 and 0.50 ± 0.08,respectively,which were significantly higher than that in the control group (0.28 ± 0.04,P < 0.05).The protein expression levels of pPKCδ in the cytoplasm were 0.38 ± 0.06,0.31 ± 0.05,0.35 ± 0.05 and 0.36 ± 0.05,respectively,which were higher than that in the control group (0.24 ± 0.05,P < 0.05).There were significant differences in the expression of Nrf2 and pNrf2 in cytoplasm and nucleus of liver tissues among groups (F =9.024,9.709,10.396,25.532,P < 0.05).The protein expression levels of Nrf2 in the cytoplasm were respectively 0.76 ± 0.09,0.58 ± 0.07,0.64 ± 0.09 and 0.73 ± 0.07,which were higher than that of the control group (0.52 ± 0.08,P < 0.05),except the low arsenic contaminated grain group.The protein expression levels of pNrf2 in the cytoplasm were respectively 0.50 ± 0.07,0.43 ± 0.06,0.48 ± 0.06 and 0.54 ± 0.07,which were higher than that in the control group (0.32 ± 0.06,P < 0.05).The expression levels of Nrf2 protein in the nucleus were respectively 0.44 ± 0.07,0.41 ± 0.06,0.47 ± 0.06 and 0.54 ± 0.09,which were higher than that in the control group (0.30 ± 0.05,P < 0.05).The protein expression levels of pNrf2 in the nucleus were respectively 0.35 ± 0.04,0.29 ± 0.04,0.41 ± 0.05 and 0.43 ± 0.06,which were higher than that in the control group (0.20 ± 0.03,P < 0.05).The correlation analysis showed that DAG contents and the protein expression of pPKCδ in the cell membrane and the cytoplasm were positively correlated (r =0.663,0.604,P < 0.05).Furthermore,the protein expression of pPKCδ in the cell membrane and pNrf2 in the cytoplasm and nucleus were also positively correlated (r =0.642,0.670,P< 0.05).Conclusions Arsenic could induce oxidative stress liver injury,and upregulate the mRNA and protein expression of Nrf2.Moreover,arsenic could also increase the protein expression of pPKCδ and DAG content,and then promote pPKCδ membrane transposition,phosphorylate Nrf2,and induce its nuclear transposition,which could regulate oxidative stress reaction.
8.Application of early goal-directed sedation with bispectral index in sedation management of severe patients in ICU
Xianghui DENG ; Runzhi HE ; Lei QIANG ; Yuanfei LI ; Xiaoxia WU ; Yong YANG ; Hu ZHOU ; Yun WANG ; Lei SHI ; Maolin DENG ; Chaoyang ZHOU ; Shufang WANG ; Qiong CHEN
Journal of Chinese Physician 2019;21(8):1164-1167
Objective The bispectral index (BIS) was introduced into the sedation strategy of critical patients in intensive care unit (ICU) and replaced the Richmond agitation sedation scale (RASS).The ventilation time,ICU length of stay,and 90-day mortality were compared between the two groups of patients who performed early goal-directed sedation (EGDS) or standard traditional directed sedation (STDS) strategies.Methods A prospective controlled study of severe patients with mechanical ventilation ≥48 h in ICU (20 cases from April 2016 to May 2017,46 cases from June 2017 to April 2018) were randomly divided into EGDS or STDS group.There were no significant differences in age,gender,and acute physiology and chronic health evaluation score Ⅱ (APACHE Ⅱ) score between the two groups in the two periods.The correlation between RASS and BIS was analyzed in the first period.The BIS of the patients in a RASS range of (-2-1) was 73.65 ± 7.87 in the EGDS group,and that of RASS range of (-3--1) was 64.14 ± 7.25 in the STDS group.The above BIS was applied to the two sedation strategies in the second period respectively.The ventilation time,ICU length of stay,and 90-day mortality were recorded.Results There was no significant difference in the ventilation time between the two groups [(164.12 ± 137.96) h and (155.33 ±64.86)h,P =0.08].ICU length of stay of the EGDS group was longer than that of the STDS group.The 90-day mortality of the EGDS group was higher than that of the STDS group.Conclusions Correlations between RASS and BIS were found in this study,and BIS can be used for sedation assessment in ICU patients.Large sample study is still needed to compare EGDS and STDS with BIS.
9.Renal malignant solitary fibrous tumor: 1 case report and literature review
Maolin XIAO ; Delin WANG ; Xiaohou WU ; Zaixian CHEN ; Fei GAO ; Lei YANG ; Hongqing WENG ; Li JIANG
Chongqing Medicine 2017;46(18):2500-2502
Objective To investigate the clinicalmanifestations,imaging features,diagnosis and differential diagnosis,treatment and prognosis of renal malignant solitary fibrous tumor(SFT).Methods The clinical data in 1 case of rare renal malignant SFT were retrospectively analyzed.Referring to related literatures,the histological origin,pathological features,differential diagnosis,treatment and follow-up of renal malignant SFT were analyzed.Results The patient was preoperatively diagnosed as right renal clear cell carcinoma.Postoperative pathological examination diagnosed as low grade malignant SFT of right kidney.And immunohistochemistry indicated CD34+,BCL-2 +,CD68+,CD99+,vimentin,Ki-67 5% +,SMA focal weakly positive.No recurrence or metastasis occurred after 4-month follow-up period.Conclusion Malignant SFT of the kidney is very rare,its diagnosis and differential diagnosis depend on postoperative pathological and immunohistochemical examination.Radical nephrectomy is the main option for malignant SFT of the kidney with good prognosis.
10.The hospital emergency management for a large number of earthquake patients in 2008 Sichuan Wenchuan Earthquake, China
Qi FENG ; Dong WANG ; Li CHEN ; Xiaoyun HE ; Mei HE ; Shiquan LIU ; Maolin LEI ; Chunhua MA
Chinese Journal of Emergency Medicine 2008;17(7):684-686
Objective A large number of injured earthquake patients were accepted by the hospital whilethe professional surgeons were relatively lack. This article introduced the hospital emergency management in 2008Sichuan Wenchuan Earthquake, China. Method Within 3 days, Central Hospital of Mianyang accepted andtreated over 1000 patients after Wenchuan Earthquake jolted on 12 May 2008,and within 2 weeks, the number ofpatients reached 1500. The hospital carded out emergency management plan: (1) emergency comprehensive treat-ment district was established, which was divided into traumatic surgery district, general surgery district, and gen-eral medical district. Traumatic surgery district is responsible for treating traumatic patients, and most doctors andnurses were in this district. The district also had preview, contamination, operation, isolation, monitoring sec-tions, and the tents were numbered and labeled. General surgery district and general medical district were responsi-ble for patients not from earthquake, and only few doctors and nurses were in the two districts. According to the in-jury degree, all the wounded were classified into acute and severe, moderate and minor injuries, and wore red,yellow and blue label on the wrists, respectively. The name, gender, age and diagnosis of each patient and thename of doctor were written on the label. The infectious patients and non-infectious patients were separated.Results Near 200 operations and near 300 operations were performed at one night and at one day, respectively.Within one week, only 1 patient had the lung infection, and one patient with gangrenous emphysema was effective-ly treated. In-hospital cross infection and epidemic of infection disease didn't happen. Conclusions Emergencymanagement model and mechanism, which referred to the model of the battlefield ambulance, played an importantrole in treating a large number of injured patients.

Result Analysis
Print
Save
E-mail