1.Development and validation of a novel criterion of histologic healing in ulcerative colitis defined by inflammatory cell enumeration in lamina propria mucosa: A multicenter retrospective cohort in China
Han GAO ; Kangsheng PENG ; Yadi SHI ; Shenshen ZHU ; Ruicong SUN ; Chunjin XU ; Ping LIU ; Zhi PANG ; Lanxiang ZHU ; Weichang CHEN ; Baisui FENG ; Huili WU ; Guangxi ZHOU ; Mingsong LI ; Junxiang LI ; Baijing DING ; Zhanju LIU
Chinese Medical Journal 2024;137(11):1316-1323
Background::Histological healing is closely associated with improved long-term clinical outcomes and lowered relapses in patients with ulcerative colitis (UC). Here, we developed a novel diagnostic criterion for assessing histological healing in UC patients.Methods::We conducted a retrospective cohort study in UC patients, whose treatment was iteratively optimized to achieve mucosal healing at Shanghai Tenth People’s Hospital of Tongji University from January 2017 to May 2022. We identified an inflammatory cell enumeration index (ICEI) for assessing histological healing based on the proportions of eosinophils, CD177 + neutrophils, and CD40L + T cells in the colonic lamina propria under high power field (HPF), and the outcomes (risks of symptomatic relapses) of achieving histological remission vs. persistent histological inflammation using Kaplan-Meier curves. Intrareader reliability and inter-reader reliability were evaluated by each reader. The relationships to the changes in the Nancy index and the Geboes score were also assessed for responsiveness. The ICEI was further validated in a new cohort of UC patients from other nine university hospitals. Results::We developed an ICEI for clinical diagnosis of histological healing, i.e., Y = 1.701X 1 + 0.758X 2 + 1.347X 3 - 7.745 (X 1, X 2, and X 3 represent the proportions of CD177 + neutrophils, eosinophils, and CD40L + T cells, respectively, in the colonic lamina propria under HPF). The receiver operating characteristics curve (ROC) analysis revealed that Y <-0.391 was the cutoff value for the diagnosis of histological healing and that an area under the curve (AUC) was 0.942 (95% confidence interval [CI]: 0.905-0.979) with a sensitivity of 92.5% and a specificity of 83.6% ( P <0.001). The intraclass correlation coefficient (ICC) for the intrareader reliability was 0.855 (95% CI: 0.781-0.909), and ICEI had good inter-reader reliability of 0.832 (95% CI: 0.748-0.894). During an 18-month follow-up, patients with histological healing had a substantially better outcome compared with those with unachieved histological healing ( P <0.001) using ICEI. During a 12-month follow-up from other nine hospitals, patients with histological healing also had a lower risk of relapse than patients with unachieved histological healing. Conclusions::ICEI can be used to predict histological healing and identify patients with a risk of relapse 12 months and 18 months after clinical therapy. Therefore, ICEI provides a promising, simplified approach to monitor histological healing and to predict the prognosis of UC.Registration::Chinese Clinical Trial Registry, No. ChiCTR2300077792.
2.Analysis of characteristic pathological manifestations and expressions of non-HLA antibodies after kidney transplantation
Zhaoru HUANG ; Lei LIU ; Yi FENG ; Junxiang WANG ; Yongchuang YAN ; Zhigang WANG ; Hongchang XIE ; Yuanbo QI ; Jinfeng LI ; Wenjun SHANG
Chinese Journal of Organ Transplantation 2024;45(10):710-717
Objective:To explore the characteristic pathological manifestations of non-HLA antibodies after kidney transplantation (KT) and examine the differences of MFT values of non-HLA antibodies in different pathological manifestations.Methods:The study was conducted on KT recipients at the First Affiliated Hospital of Zhengzhou University from February 2021 to June 2023 with unexplained elevated serum creatinine. Patients undergoing pathological puncture and concurrent HLA antibody testing were included, focusing on those with DSA (MFI>4 000) and non-HLA antibody negativity. According to the detection results of non-HLA and HLA antibodies, they were assigned into two groups of non-HLA antibody positive (45 cases) and HLA-DSA positive (28 cases). Both non-HLA and HLA antibodies were detected by luminex single antigen microbeads, χ2, t or Mann-Whitney U nonparametric tests were utilized for examining the inter-group differences in pathological manifestations. The recipients with positive non-HLA antibodies were grouped according to the differential pathological features[microvascular inflammation group (22 cases) and non-microvascular inflammation group (23 cases), interstitial fibrosis group (39 cases) and non-interstitial fibrosis (9 cases) ]. MFI values of non-HLA antibodies were standardized and heat map was generated with R language ComplexHeatmap package. The differences of response values of non-HLA antibodies with different pathological manifestations were examined by rank-sum test. Results:The positive rates of microvascular inflammation were 48.9% (22/45) and 82.1% (23/28) in HLA-DSA positive and non-HLA antibody positive groups with statistical significance ( χ2=8.073, P=0.006). The positive rates of interstitial fibrosis in two groups were 80.8% (36/45) and 53.6% (15/28) and the difference was statistically significant ( χ2=5.726, P=0.021). The relative levels of anti-arachnotoxin receptor 1 (Latrophilin 1, LPHN1), keratin 8 (KRT8), keratin 18 (KRT18) and Sjogren's syndrome antigen B (SSB) were higher in microvascular inflammation group than those in non-microvascular inflammation group. The differences were statistically significant [559.50 (262.00, 801.25) vs 285.00 (183.00, 460.00), P=0.024; 504.50 (369.5, 725.25) vs 317.00 (231.50, 458.00), P=0.014; 672.50 (454.50, 969.50) vs 399.00 (246.50, 772.50), P=0.030; 967.50 (482.00, 2 066.50) vs 399.00 (246.50, 772.50), P=0.033]. The relative levels of anti-cyclic citrullinate peptide (CCP), colony-stimulating factor 2 (CSF2), intercellular adhesion molecule 1 (ICAM1) and collagen Ⅳ antibody were higher in interstitial fibrosis group than those in non-interstitial fibrosis group with statistical significance [100.00 (79.88, 167.50) vs 64.50 (37.00, 89.00), P=0.016; 146.25 (93.38, 244.75) vs 87.00 (66.00, 105.00), P=0.041; 132.50 (106.38, 229.50) vs 95.00 (55.00, 125.00), P=0.037; 432.50 (280.75, 653.75) vs 208.00 (192.00, 301.00), P=0.028]. Conclusions:As compared with HLA-DSA, the characteristic pathological manifestations of non-HLA antibodies post-KT include a lower incidence of microvascular inflammation and a higher incidence of interstitial fibrosis. For non-HLA antibody response values of characteristic pathological manifestations, the expressions of different non-HLA antibodies vary statistically.
3.Clinical characteristics of 15 cases of renal transplantation with pre-exsiting donor-specific antibody
Hongzhao FAN ; Jia LIU ; Jiajia SUN ; Junxiang WANG ; Xinlu PANG ; Wenjun SHANG ; Guiwen FENG ; Jinfeng LI
Journal of Central South University(Medical Sciences) 2023;48(10):1583-1591
Objective:Currently,patients with pre-exsiting donor-specific antibody(DSA)are prone to antibody-mediated rejection(AMR)after surgery and are at a relatively high risk of postoperative complications and graft failure.The risk of postoperative complications and graft failure is relatively high.This study aims to discuss the clinical outcome of DSA-positive kidney transplantation and analyze the role and safety of preoperative pretreatment in DSA-positive kidney transplantation,providing single-center treatment experience for DSA-positive kidney transplantation. Methods:We retrospectively analyzed the clinical data of 15 DSA-positive kidney transplants in the Department of Renal Transplantation of First Affiliated Hospital of Zhengzhou University from August 2017 to July 2022.Eight cases were organ donation after citizen's death(DCD)kidney transplant recipients,of which 3 cases in the early stage were not treated with preoperative desensitisation therapy(DCD untreated group,n=3),and 5 recipients were treated with preoperative rituximab desensitisation(DCD preprocessing group,n=5).The remaining 7 cases were living related donors recipients(LRD)who received preoperative desensitisation treatment with rituximab and plasma exchange(LRD preprocessing group,n=7).We observed and recorded the incidence of complications with changes in renal function and DSA levels in the recipients and the survival of the recipients and transplanted kidneys at 1,3 and 5 years,and to compare the differences in recovery and postoperative complications between 3 groups. Results:All 15 recipients were positive for preoperative panel reactive antibody(PRA)and DSA and were treated with methylprednisolone+rabbit anti-human thymocyte immunoglobulin induction before kidney transplantation.DCD untreated group all suffered from DSA level rebound,delayed renal graft function(DGF)and rejection reaction after surgery.After the combined treatment,DSA level was reduced and the graft renal function returned to normal.The DCD preprocessing group were all without antibody rebound,1 recipient developed DGF and the renal function returned to normal after plasmapheresis,and the remaining 4 recipients recovered their renal function to normal within 2 weeks after the operation.In the LRD preprocessing group,2 cases had antibody rebound and 1 case had rejection,but all of them recovered to normal after treatment,and DSA was maintained at a low level or even disappeared.The incidence of DGF and rejection in the DCD untreated group were significantly higher than that in the DCD preprocessing group and the LRD preprocessing group;and there were no significant difference in the incidence of postoperative haematuria,proteinuria,bacterial and fungal infections,and BK virus infection between the 3 groups(all P>0.05).A total of 11 of the 15 recipients were followed up for more than 1 year,6 for more than 3 years,and 1 for more than 5 years,and the survival rates of both the recipients and the transplanted kidneys were 100%. Conclusion:Effective preoperative pretreatment with desensitization therapy can effectively prevent antibody rebound in DSA-positive kidney transplantation and reduce perioperative complications.
4.Efficacy of parent-child emotional regulation and resilience group training on adolescent depression
Junxiang CHENG ; Juan ZHAO ; Yaoqing FENG ; Baoli SONG ; Ying LI ; Yangjie CHEN ; Xiaomei LIU ; Shifan HAN
Chinese Journal of Behavioral Medicine and Brain Science 2023;32(12):1078-1085
Objective:To explore the application effect of parent-child emotional regulation and resilience group training in adolescent depression patients.Methods:From August 2020 to September 2021, a total of 118 adolescent depression patients were enrolled and randomly divided into the intervention group(66 cases) and the control group(66 cases) by a random number table method.The intervention group received medication therapy and parent-child group emotional regulation and psychological resilience training, while the control group received medication therapy and commonly used individual, family or group therapy in clinical practice.The Hamilton Depression rating scale(HAMD-24 version), Herth hope scale(HHS), Connor-Davidson resilience scale(CD-RISC), and family adaptability and cohesion evaluation scale, second edition Chinese version(FACES-Ⅱ-CV) were adopted to investigate participants at baseline, 12-week, 24-week, and 36-week after intervention.SPSS 26.0 statistical software was used to perform repeated measurement analysis of variance on the data.Results:(1)The interaction effect between two groups of HAMD scores( F=54.0, P<0.001), group main effect( F=401.4, P<0.001), and time main effect( F=116.6, P<0.001) were all significant.Further simple effect analysis showed that there were statistically significant differences in HAMD scores at various time points after intervention between the intervention group(26.2±6.5, 19.3±5.9, 11.3±5.6) and the control group(33.1±9.1, 30.3±7.9, 25.0±8.4)(all P<0.05). Intragroup comparison showed the HAMD scores of the intervention group and control group at each time point after intervention were lower than those before intervention (all P<0.05). (2)The interaction effect of CD-RISC scores between two groups of patients( F=72.1, P<0.001), group main effect( F=48.9, P<0.001), and time main effect( F=174.9, P<0.001) were significant.Further simple effect analysis showed that the CD-RISC score of the intervention group at each time point after intervention were higher than those of the control group(all P<0.05). Intragroup comparison showed the scores of CD-RISC at each time point after intervention in the intervention group and the control group were higher than those before intervention(all P<0.05). (3)The interaction effect of HHS scores( F=121.6, P<0.001), group main effect( F=57.4, P<0.001), and time main effect( F=208.1, P<0.001) of the two groups of patients were significant.Further simple effect analysis showed that the HHS scores of the intervention group were higher than those of the control group at all time points after intervention(all P<0.05). Intragroup comparison showed the HHS scores of the intervention group and the control group at each time point after intervention were higher than those before intervention(all P<0.05). (4)The interaction effect of FACES-Ⅱ-CV scores( F=45.0, P<0.001), group main effect( F=20.3, P<0.001), and time main effect( F=154.5, P<0.001) of the two groups of patients were significant.Further simple effect analysis showed that the FACES-Ⅱ-CV scores of the intervention group were higher than those of the control group at all time points after intervention(all P<0.05). Intragroup comparison showed the FACES-Ⅱ-CV scores of the intervention group and the control group at each time point after intervention were higher than those before intervention(all P<0.05). (5)The total effective rate of the intervention group was higher than that of the control group(95.1%, 87.7%)( P<0.001). Conclusion:In adolescents with depression, parent-child group emotional regulation and resilience training can effectively reduce depression emotion, increase the level of hope and resilience of patients and enhance family intimacy and adaptability.
5.Host protection against Omicron BA.2.2 sublineages by prior vaccination in spring 2022 COVID-19 outbreak in Shanghai.
Ziyu FU ; Dongguo LIANG ; Wei ZHANG ; Dongling SHI ; Yuhua MA ; Dong WEI ; Junxiang XI ; Sizhe YANG ; Xiaoguang XU ; Di TIAN ; Zhaoqing ZHU ; Mingquan GUO ; Lu JIANG ; Shuting YU ; Shuai WANG ; Fangyin JIANG ; Yun LING ; Shengyue WANG ; Saijuan CHEN ; Feng LIU ; Yun TAN ; Xiaohong FAN
Frontiers of Medicine 2023;17(3):562-575
The Omicron family of SARS-CoV-2 variants are currently driving the COVID-19 pandemic. Here we analyzed the clinical laboratory test results of 9911 Omicron BA.2.2 sublineages-infected symptomatic patients without earlier infection histories during a SARS-CoV-2 outbreak in Shanghai in spring 2022. Compared to an earlier patient cohort infected by SARS-CoV-2 prototype strains in 2020, BA.2.2 infection led to distinct fluctuations of pathophysiological markers in the peripheral blood. In particular, severe/critical cases of COVID-19 post BA.2.2 infection were associated with less pro-inflammatory macrophage activation and stronger interferon alpha response in the bronchoalveolar microenvironment. Importantly, the abnormal biomarkers were significantly subdued in individuals who had been immunized by 2 or 3 doses of SARS-CoV-2 prototype-inactivated vaccines, supporting the estimation of an overall 96.02% of protection rate against severe/critical disease in the 4854 cases in our BA.2.2 patient cohort with traceable vaccination records. Furthermore, even though age was a critical risk factor of the severity of COVID-19 post BA.2.2 infection, vaccination-elicited protection against severe/critical COVID-19 reached 90.15% in patients aged ≽ 60 years old. Together, our study delineates the pathophysiological features of Omicron BA.2.2 sublineages and demonstrates significant protection conferred by prior prototype-based inactivated vaccines.
Humans
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Aged
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Middle Aged
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COVID-19/prevention & control*
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SARS-CoV-2
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Pandemics/prevention & control*
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China/epidemiology*
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Disease Outbreaks/prevention & control*
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Vaccination
6.Analysis of dosimetric verification results of three verification systems for stereotactic body radiation therapy
Fan WU ; Bin TANG ; Feng YANG ; Junxiang WU
Chinese Journal of Radiological Medicine and Protection 2022;42(9):678-684
Objective:To compare the effects of parameters, such as planning target volume (PTV), calculation grid size, and dose threshold, on the dosimetric verification result of three dosimetric verification systems ArcCHECK, SRS MapCHECK, and 3DMap for stereotactic body radiation therapy (SBRT).Methods:Based on the dosimetric verification result of the SBRT plans of 50 patients, this study compared the effects of PTV (<25 cm 3 and ≥25 cm 3), calculation grid size (1.0, 1.5, and 2.0 mm), and dose threshold (5%, 10%, and 15%) on the γ passing rates of the three dosimetric verification systems at five criteria, i. e., 3 mm/3%, 3 mm/2%, 3 mm/1%, 2 mm/3%, and 2 mm/2%. Results:The changes in PTV affected 3DMap more significantly. With an increase in PTV, the γ passing rates of 3DMap at the criteria of 3 mm/3%, 3 mm/2%, 2 mm/3%, and 2 mm/2% increased by 2.2%, 2.2%, 4.4%, and 4.7% ( t=-2.76, -2.17, -4.72, -3.86, P<0.05), respectively. The increase in the calculation grid from 1.0 mm to 1.5 mm had greater effect on MapCHECK, with the γ passing rates at the criteria of 3 mm/3%, 3 mm/2%, 3 mm/1%, 2 mm/3% and 2 mm/2% decreased by 0.7%, 1.1%, 1.7%, 0.9%, 1.5% ( t=-6.15, -6.23, -5.98, -5.11, -8.34, P<0.05), respectively. The increases in the calculation grid from 1.0 mm to 2.0 mm had greater impact on ArcCHECK, with the γ passing rates at the criteria of 3 mm/3%, 3 mm/2%, 3 mm/1%, 2 mm/3%, 2 mm/2% decreased by 1.0%, 1.7%, 2.4%, 1.7%, 2.7% ( t=-4.75, -7.3, -8.63, -7.11, -8.26, P<0.05), respectively. The increase in the dose threshold from 5% to 10% had greater impact on ArcCHECK, with the γ passing rates at the criteria of 3 mm/3%, 3 mm/2%, 2 mm/3% and 2 mm/2% decreased by 1.1%, 1.4%, 2.5%, and 3.0% ( t=5.20, 5.68, 8.17, 9.99, P<0.05), respectively. Moreover, the increase in the dose threshold from 5% to 15% had more impact on 3DMap, with the γ passing rates at the criteria of 3 mm/3%, 3 mm/2%, 2 mm/3%, and 2 mm/2% decreased by 1.6%, 1.7%, 2.8%, and 3.2% ( t=3.25, 2.98, 4.40, 4.21, P<0.05), respectively. Conclusions:Target volume, calculation grid, and dose threshold are influencing factors in the dosimetric verification of three dosimetric verification systems for SBRT. Therefore, the effects of these parameters should be considered for different verification systems in clinical applications.
7.Long-term efficacy and BMP-7/25- (OH) -D-3 levels of percutaneous kyphoplasty in the treatment of elderly osteoporotic thoracolumbar compression fractures
Minzhe ZHENG ; Junxiang XU ; Zongxian FENG
Chinese Journal of Endocrine Surgery 2022;16(5):589-594
Objective:To analyze the long-term efficacy of percutaneous kyphoplasty (PKP) assisted with vitamin D in the treatment of elderly thoracolumbar single vertebral osteoporotic vertebral compression fractures (OVCF) and its effect on transfected bone morphogenetic protein-Effects of 7 (BMP-7) /25-hydroxyvitamin D3 [ (25- (OH) -D3] levels.Methods:106 elderly patients with fresh OVCF of thoracic and lumbar vertebrae who were treated with PKP in Li Huili Hospital of Ningbo Medical Center from Jun. 2017 to Jun. 2021 were selected as the research object, and they were divided into two groups according to the random number table method (53 cases in each group) . Both groups were treated with PKP and received conventional anti-osteoporosis treatment and rehabilitation training. On this basis, patients in the treatment group were given vitamin D therapy. Before treatment and 1, 3, 6, and 12 months after treatment, the degree of pain improvement, Cobb angle improvement, bone mineral density, vertebral body compression rate, vertebral body function recovery and serum BMP-7, 25- (OH) -D3 level, and the cement leakage rate of all subjects within 1 year of follow-up was recorded.Results:Two patients in the observation group and 3 patients in the control group lost to follow-up. Comparing the results of before treatment and 12 months after treatment: the control group’s BMD increased from 0.585±0.042 to 0.755±0.0641; BMP-7 increased from 80.02±6.24 to 129.87±10.52;25- (OH) -D3 increased from 9.15±2.16 to 13.52±2.64;and the treatment group’s BMD increased from 0.576±0.039 to 0.868±0.079; BMP-7 increased from 78.36±6.20 to 153.41±12.70; 25- (OH) -D3 increased from 9.01±2.12 to 16.24±2.81; the treatment group had higher increase ( P<0.05) . Meanwhile the control group’s Cobb angle decreased from 13.54±1.81 to 8.05±1.05; vertebral body compression rate decreased from 28.41±3.47 to 19.86±2.29; ODI score decreased from 74.42±7.37 to 24.08±2.41; VAS score decreased from7.54±0.81 to 2.65±0.25,and the treatment group’s Cobb angle decreased from 13.70±1.89 to 7.42±0.97;vertebral body compression rate decreased from 28.97±3.62 to 18.86±2.02; ODI score decreased from75.78±7.43 to 21.39±2.08; VAS score decreased from7.70±0.891 to 2.32±0.20,while the treatment group decreased more ( P<0.05) . In addition, the vertebral refracture rate in the control group was 22.00% (11/50) , while the vertebral refracture rate in the treatment group was 5.88% (3/51) , and there was a significant difference between the groups ( χ 2=5.125, P=0.024) . Conclusion:PKP combined with vitamin D in the treatment of elderly thoracolumbar OVCF can significantly improve the levels of BMP-7 and 25- (OH) -D3, better restore bone mineral density, vertebral body function and correct kyphosis, with a more ideal long-term efficacy.
8.Treatment and mid/long-term outcomes of transplantation renal artery stenosis in children
Junxiang WANG ; Zhiqiang WANG ; Zhigang WANG ; Xianlei YANG ; Yonghua FENG ; Hongchang XIE ; Lei LIU ; Jinfeng LI ; Wenjun SHANG ; Guiwen FENG
Chinese Journal of Organ Transplantation 2022;43(1):20-24
Objective:To explore the clinical efficacy of vascular interventional therapy in children with transplantation renal artery stenosis(TRAS).Methods:From January 2013 to September 2021, retrospective analysis was performed for clinical data of 238 TRAS children.Peak systolic velocity(PSV)of transplant renal artery, interlobular artery PSV, transplant renal artery PSV/ interlobular artery PSV(post PSV ratio)and serum creatinine level before and after vascular interventional therapy and at the last follow-up were compared.Results:Six pediatric kidney transplantation recipients were diagnosed as TRAS.The median operative age was 12(9-17)years, the median postoperative time to diagnosing TRAS 4(1.7-18.0)months and the median follow-up period 6.6(2.5-8.0)years.All of them received vascular interventional therapy of percutaneous transluminal angioplasty(PTA, n=5)and stent angioplasty( n=1). The serum creatinine pre-treatment with vascular interventional therapy was significantly higher than baseline serum creatinine level at discharge(200.8±88.5)vs(75.2±27.9)μmol/L, P=0.025 and decreased to(103.8±44.7)μmol/L at Month 1 post-treatment( P=0.196)and(98.7±30.2)μmol/L at the last follow-up( P=0.115). Comparing with internal diameter of grafted renal artery anastomosis site(2.6±0.6 mm)pre-treatment with vascular interventional therapy, significant changes occurred at 24 h post-treatment(3.8±0.5 mm)and at the last follow-up(4.1±0.8 mm)(all P=0.027). In addition, PSV and post PSV ratio of transplanted renal artery at 24 h post-treatment(163±45.0 cm/s, 6.5±2.2)and at the last follow-up(184.7±80.8 cm/s, 5.4±2.0)were significantly lower than that before vascular interventional therapy(356.5±77.9 cm/s, 18.0±5.8)and interlobular artery PSV was significantly higher than that before vascular interventional therapy( P=0.024, P=0.032, respectively). During follow-ups, no restenosis or thrombosis occurred in transplanted renal arteries. Conclusions:PTA or stent angioplasty for TRAS children is technically feasible with low restenosis rate and relatively satisfactory mid/long-term outcomes.
9.Analysis of diagnosis and treatment of Lesch-Nyhan syndrome
Zhanqi FENG ; Liangjie GUO ; Zhian JING ; Hailan XIA ; Songlin CHEN ; Junxiang SU ; Hongdan WANG
Chinese Journal of Urology 2021;42(12):919-924
Objective:To explore the etiology, clinical diagnosis and treatment strategy of Lesch Nyhan syndrome.Methods:We retrospectively analyzed 2 patients with severe dyskinesia, mental retardation and complicated renal calculi who were admitted to the first people's Hospital of Zhengzhou in August 2019. Case 1, male, 9 years old, had multiple urinary calculi for 1 year. The patient came to the local hospital because double multiple kidney stones and bladder stonesa year ago. The patient had been treated with transurethral holmium laser lithotripsy for bladder stones. The results of infrared spectrum showed that the bladder stone was anhydrous uric acid stone. A week ago, color Doppler ultrasound showed multiple kidney stones and bladder stones. The patient was underdeveloped, mentally retarded and had a full-term cesarean section. There was no history of hypoxia, asphyxia and rescue of the patient. He had the following clinical manifestations: In the waking state, he was no language response to any stimulation. The nasolabial fold on the right was shallow and the corner of the mouth was oblique to the left. He lost the large movements such as lifting head, sitting alone, standing. The trunk showed torsion spasticity, limb muscle strength 2-3, limbs showing spastic hypertonia, limb joints stiff, hands showing fist-like, no involuntary movement and muscle fasciculation. The biceps reflex and knee tendon reflex were not elicited, and the pathological reflex was positive. Serum uric acid was 517 μmol/L. The Case 2 came from the same family, male, 6 years old, had the similar symptoms to his elder brother case 1. The family members complained on behalf of the child about intermittent fever for more than 2 years. The imaging examination of case 2 revealed kidney stones. Serum uric acid was 373 μmol/L. Whole Exome Sequencing and Sanger Sequencing were used to find the genetic causes of the two siblings. The NCBI-Homologene database was used to find the homologous sequence of the human HPRT1 gene, and the human HPRT1 gene sequence was compared with other species to analyze the protein conservation. The online website PredictProtein (http: //www.predactprotein) was used to predict the two-dimensional structure of the HPRT1 gene. The reported cases were summarized and same with the treatment plan.Results:A De novo mutation [c.571T>G(p.Tyr191Asp)] was found in the HPRT1 gene of the child, which was inherited from the mother. Lesch Nyhan syndrome can be diagnosed by the results of gene examination combined with clinical manifestations. The amino acid Tyr at the 191 position and the amino acids before and after it were highly conserved. Amino acid 191 was involved in the β-strand of the protein. We treated the patients with the lowest dose of allopurinol and children's conventional dose of potassium sodium bicitrate granules, and low purine diet. After 3 months of treatment, the serum uric acid was decreased, and the urinary calculi did not increase significantly.Conclusions:Combining with the clinical manifestations of children, HPRT1 gene might be the cause of pediatric disease and the two siblings could be diagnosed as Lesch-Nyhan syndrome. For such patients, the lowest dose of allopurinol and children's conventional dose of potassium sodium hydrogen citrate granule combined with diet could be more effective.
10.Comparative analysis of single kidney transplantation for children between low weight and high weight pediatric donor
Hongchang XIE ; Ming YI ; Yonghua FENG ; Xianlei YANG ; Zhigang WANG ; Junxiang WANG ; Lei LIU ; Jinfeng LI ; Xinlu PANG ; Wenjun SHANG ; Guiwen FENG
Chinese Journal of Urology 2021;42(5):370-374
Objective:To compare the efficacy of single kidney transplantation for children from pediatric donors between body weight ≤15 kg and >15 kg.Methods:A retrospective review in 156 children with single donor kidney transplantation from August 2010 to December 2019 in the Kidney Transplantation Department of the First Affiliated Hospital of Zhengzhou University was conducted. The patients were classified into the small kidney group (pediatric donor body weight ≤15 kg) and the big kidney group (pediatric donor body weight >15 kg). In this study, 89 cases were concluded in the small kidney group and 67 cases were concluded in the big kidney group. The donor kidneys were obtained from 46 cases of small weight (≤15 kg) pediatric donors and 48 cases of large weight (>15 kg) pediatric donors. There were significant differences in age [1.00 (0.02 - 4.00) years vs. 10.00 (3.00-18.00) years], body weight [10.0 (3.4 - 15.0) kg vs. 35.0 (16.2- 35.0) kg], height [76 (50- 113) cm vs. 144 (67-172) cm], GFR [(31.50±7.46)ml/min vs. (36.79±7.00) ml/min], and renal length to diameter [(5.91±0.48) cm vs. (8.71±1.88) cm] between the small kidney group and the big kidney group ( P < 0.01). There was no significant difference between the two groups of donors in gender, cold/warm ischemia time and cause of death ( P>0.05). There were significant differences in age [(11.28±3.89) years vs. (13.86±3.56) years], body weight [(31.83±10.45)kg vs. (35.13±9.15) kg], and height [(130.02±28.56) cm vs. (143.97±16.59) cm] between recipients of the small kidney group and big kidney group ( P < 0.05). While there were no significant differences in preoperative serum creatinine level [(822.65 ± 135.04) μmol/L vs. (777.31 ± 165.40) μmol/L], HLA mismatch [(3.4 ± 1.4) site vs. (3.2±1.3) site], and primary disease between the two groups ( P > 0.05). The recovery of renal function, postoperative adverse events, postoperative children, and graft survival were compared between the two groups. Results:The renal function of the two groups of recipients returned to normal 3 months after operation. The perioperative complications in the small kidney group and the big kidney group mainly included renal delayed recovery [5.6% (5/89) vs. 7.5% (5/67), P=0.89], renal vascular embolization [3.4% (3/89) vs. 0, P=0.35], and acute rejection [2.2% (2/89) vs. 4.3% (3/67) , P=0.75]. The main cause of recipient death during the follow-up period was pulmonary infection [4.5% (4/89) vs. 6.0% (4/67) , P=0.68]. The postoperative small kidney group was followed up for an average of 30 (3-74) months. The survival rates of children in the small kidney group at the 1, 3 and 5 years after surgery were 96.6% (86/89), 91.0% (81/89) and 91.0%(81/89), while the transplanted renal survival rates were 92.1% (82/89), 86.5% (77/89) and 84.2% (75/89), respectively. The postoperative big kidney group was followed up for an average of 32 (4-89 ) months. The survival rates of children in the big kidney group were 95.5% (64/67), 94.0% (63/67) and 91.0%(61/67) in the first 1, 3 and 5 years postoperatively, while the graft survival rates were 92.5% (62/67), 83.6% (56/67) and 83.6% (56/67), respectively. The postoperative kidneys of two groups were fast-growing, and there was no significant difference between the small kidney group and the big kidney group in graft length to diameter [(9.63±0.31) cm vs. (9.75±0.71) cm] after 1 year ( P>0.05). Conclusions:The effect of single pediatric kidney transplantation for pediatric donor with body weight ≤15 kg is equivalent to that for pediatric donor with body weight >15 kg , which can be carried out clinically.

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