1.A multi-center epidemiological study on pneumococcal meningitis in children from 2019 to 2020
Cai-Yun WANG ; Hong-Mei XU ; Gang LIU ; Jing LIU ; Hui YU ; Bi-Quan CHEN ; Guo ZHENG ; Min SHU ; Li-Jun DU ; Zhi-Wei XU ; Li-Su HUANG ; Hai-Bo LI ; Dong WANG ; Song-Ting BAI ; Qing-Wen SHAN ; Chun-Hui ZHU ; Jian-Mei TIAN ; Jian-Hua HAO ; Ai-Wei LIN ; Dao-Jiong LIN ; Jin-Zhun WU ; Xin-Hua ZHANG ; Qing CAO ; Zhong-Bin TAO ; Yuan CHEN ; Guo-Long ZHU ; Ping XUE ; Zheng-Zhen TANG ; Xue-Wen SU ; Zheng-Hai QU ; Shi-Yong ZHAO ; Lin PANG ; Hui-Ling DENG ; Sai-Nan SHU ; Ying-Hu CHEN
Chinese Journal of Contemporary Pediatrics 2024;26(2):131-138
Objective To investigate the clinical characteristics and prognosis of pneumococcal meningitis(PM),and drug sensitivity of Streptococcus pneumoniae(SP)isolates in Chinese children.Methods A retrospective analysis was conducted on clinical information,laboratory data,and microbiological data of 160 hospitalized children under 15 years old with PM from January 2019 to December 2020 in 33 tertiary hospitals across the country.Results Among the 160 children with PM,there were 103 males and 57 females.The age ranged from 15 days to 15 years,with 109 cases(68.1% )aged 3 months to under 3 years.SP strains were isolated from 95 cases(59.4% )in cerebrospinal fluid cultures and from 57 cases(35.6% )in blood cultures.The positive rates of SP detection by cerebrospinal fluid metagenomic next-generation sequencing and cerebrospinal fluid SP antigen testing were 40% (35/87)and 27% (21/78),respectively.Fifty-five cases(34.4% )had one or more risk factors for purulent meningitis,113 cases(70.6% )had one or more extra-cranial infectious foci,and 18 cases(11.3% )had underlying diseases.The most common clinical symptoms were fever(147 cases,91.9% ),followed by lethargy(98 cases,61.3% )and vomiting(61 cases,38.1% ).Sixty-nine cases(43.1% )experienced intracranial complications during hospitalization,with subdural effusion and/or empyema being the most common complication[43 cases(26.9% )],followed by hydrocephalus in 24 cases(15.0% ),brain abscess in 23 cases(14.4% ),and cerebral hemorrhage in 8 cases(5.0% ).Subdural effusion and/or empyema and hydrocephalus mainly occurred in children under 1 year old,with rates of 91% (39/43)and 83% (20/24),respectively.SP strains exhibited complete sensitivity to vancomycin(100% ,75/75),linezolid(100% ,56/56),and meropenem(100% ,6/6).High sensitivity rates were also observed for levofloxacin(81% ,22/27),moxifloxacin(82% ,14/17),rifampicin(96% ,25/26),and chloramphenicol(91% ,21/23).However,low sensitivity rates were found for penicillin(16% ,11/68)and clindamycin(6% ,1/17),and SP strains were completely resistant to erythromycin(100% ,31/31).The rates of discharge with cure and improvement were 22.5% (36/160)and 66.2% (106/160),respectively,while 18 cases(11.3% )had adverse outcomes.Conclusions Pediatric PM is more common in children aged 3 months to under 3 years.Intracranial complications are more frequently observed in children under 1 year old.Fever is the most common clinical manifestation of PM,and subdural effusion/emphysema and hydrocephalus are the most frequent complications.Non-culture detection methods for cerebrospinal fluid can improve pathogen detection rates.Adverse outcomes can be noted in more than 10% of PM cases.SP strains are high sensitivity to vancomycin,linezolid,meropenem,levofloxacin,moxifloxacin,rifampicin,and chloramphenicol.[Chinese Journal of Contemporary Pediatrics,2024,26(2):131-138]
2.Risk factors and survival of EBV-infected aplastic anemia patients after haploid allogeneic hematopoietic stem cell transplantation
Xin-He ZHANG ; Jia FENG ; Zheng-Wei TAN ; Yue-Chao ZHAO ; Hui-Jin HU ; Jun-Fa CHEN ; Li-Qiang WU ; Qing-Hong YU ; Di-Jiong WU ; Bao-Dong YE ; Wen-Bin LIU
Chinese Journal of Infection Control 2024;23(10):1228-1235
Objective To analyze the risk factors and survival status of Epstein-Barr virus(EBV)infection in pa-tients with aplastic anemia(AA)after haploid allogeneic hematopoietic stem cell transplantation(Haplo-HSCT).Methods Clinical data of 78 AA patients who underwent Haplo-HSCT in the hematology department of a hospital from January 1,2019 to October 31,2022 were analyzed retrospectively.The occurrence and onset time of EBV viremia,EBV-related diseases(EBV diseases),and post-transplant lymphoproliferative disorders(PTLD)were ob-served,risk factors and survival status were analyzed.Results Among the 78 patients,38 were males and 40 were females,with a median age of 33(9-56)years old;53 patients experienced EBV reactivation,with a total inci-dence of 67.9%,and the median time for EBV reactivation was 33(13,416)days after transplantation.Among pa-tients with EBV reactivation,49 cases(62.8%)were simple EBV viremia,2 cases(2.6%)were possible EBV di-seases,and 2 cases(2.6%)were already confirmed EBV diseases(PTLD).Univariate analysis showed that age 1<40 years old at the time of transplantation,umbilical cord blood infusion,occurrence of acute graft-versus-host disease(aGVHD)after transplantation,and concurrent cytomegalovirus(CMV)infection were independent risk fac-tors for EBV reactivation in AA patients after Haplo-HSCT.Multivariate analysis showed that concurrent CMV in-fection was an independent risk factor for EBV reactivation in A A patients after Haplo-HSCT(P=0.048).Ritu-ximab intervention before stem cell reinfusion was a factor affecting the duration of EBV reactivation(P<0.05).The mortality of EBV viremia,EBV diseases,and PTLD alone were 8.2%,50.0%,and 100%,respectively.The 2-year overall survival rate of patients with and without EBV reactivation were 85.3%,and 90.7%,respectively,difference was not statistically significant(P=0.897).However,patients treated with rituximab had 2-year lower survival rate than those who did not use it,with a statistically significant difference(P=0.046).Conclusion EBV reactivation is one of the serious complications in AA patients after Haplo-HSCT,which affects the prognosis and survival of patients.
3.Expression of GPNMB in renal eosinophilic tumors and its value in differential diagnosis.
Ya WANG ; Meng Yue HOU ; Yao FU ; Kui MENG ; Hong Yan WU ; Jin CHEN ; Yue Mei XU ; Jiong SHI ; Xiang Shan FAN
Chinese Journal of Pathology 2023;52(4):358-363
Objective: To investigate the expression of glycoprotein non metastatic melanoma protein B (GPNMB) in renal eosinophilic tumors and to compare the value of GPNMB with CK20, CK7 and CD117 in the differential diagnosis of renal eosinophilic tumors. Methods: Traditional renal tumor eosinophil subtypes, including 22 cases of renal clear cell carcinoma eosinophil subtype (e-ccRCC), 19 cases of renal papillary cell carcinoma eosinophil subtype (e-papRCC), 17 cases of renal chromophobe cell carcinoma eosinophil subtype (e-chRCC), 12 cases of renal oncocytoma (RO) and emerging renal tumor types with eosinophil characteristics [3 cases of eosinophilic solid cystic renal cell carcinoma (ESC RCC), 3 cases of renal low-grade eosinophil tumor (LOT), 4 cases of fumarate hydratase-deficient renal cell carcinoma (FH-dRCC) and 5 cases of renal epithelioid angiomyolipoma (E-AML)], were collected at the Affiliated Drum Tower Hospital of Nanjing University Medical School from January 2017 to March 2022. The expression of GPNMB, CK20, CK7 and CD117 was detected by immunohistochemistry and statistically analyzed. Results: GPNMB was expressed in all emerging renal tumor types with eosinophil characteristics (ESC RCC, LOT, FH-dRCC) and E-AML, while the expression rates in traditional renal eosinophil subtypes e-papRCC, e-chRCC, e-ccRCC and RO were very low or zero (1/19, 1/17, 0/22 and 0/12, respectively); the expression rate of CK7 in LOT (3/3), e-chRCC (15/17), e-ccRCC (4/22), e-papRCC (2/19), ESC RCC (0/3), RO (4/12), E-AML(1/5), and FH-dRCC (2/4) variedly; the expression of CK20 was different in ESC RCC (3/3), LOT(3/3), e-chRCC(1/17), RO(9/12), e-papRCC(4/19), FH-dRCC(1/4), e-ccRCC(0/22) and E-AML(0/5), and so did that of CD117 in e-ccRCC(2/22), e-papRCC(1/19), e-chRCC(16/17), RO(10/12), ESC RCC(0/3), LOT(1/3), E-AML(2/5) and FH-dRCC(1/4). GPNMB had 100% sensitivity and 97.1% specificity in distinguishing E-AML and emerging renal tumor types (such as ESC RCC, LOT, FH-dRCC) from traditional renal tumor types (such as e-ccRCC, e-papRCC, e-chRCC, RO),respectively. Compared with CK7, CK20 and CD117 antibodies, GPNMB was more effective in the differential diagnosis (P<0.05). Conclusion: As a new renal tumor marker, GPNMB can effectively distinguish E-AML and emerging renal tumor types with eosinophil characteristics such as ESC RCC, LOT, FH-dRCC from traditional renal tumor eosinophil subtypes such as e-ccRCC, e-papRCC, e-chRCC and RO, which is helpful for the differential diagnosis of renal eosinophilic tumors.
Humans
;
Kidney Neoplasms/pathology*
;
Carcinoma, Renal Cell/pathology*
;
Diagnosis, Differential
;
Angiomyolipoma/diagnosis*
;
Biomarkers, Tumor/metabolism*
;
Leukemia, Myeloid, Acute/diagnosis*
;
Membrane Glycoproteins
4.A multicenter epidemiological study of acute bacterial meningitis in children.
Cai Yun WANG ; Hong Mei XU ; Jiao TIAN ; Si Qi HONG ; Gang LIU ; Si Xuan WANG ; Feng GAO ; Jing LIU ; Fu Rong LIU ; Hui YU ; Xia WU ; Bi Quan CHEN ; Fang Fang SHEN ; Guo ZHENG ; Jie YU ; Min SHU ; Lu LIU ; Li Jun DU ; Pei LI ; Zhi Wei XU ; Meng Quan ZHU ; Li Su HUANG ; He Yu HUANG ; Hai Bo LI ; Yuan Yuan HUANG ; Dong WANG ; Fang WU ; Song Ting BAI ; Jing Jing TANG ; Qing Wen SHAN ; Lian Cheng LAN ; Chun Hui ZHU ; Yan XIONG ; Jian Mei TIAN ; Jia Hui WU ; Jian Hua HAO ; Hui Ya ZHAO ; Ai Wei LIN ; Shuang Shuang SONG ; Dao Jiong LIN ; Qiong Hua ZHOU ; Yu Ping GUO ; Jin Zhun WU ; Xiao Qing YANG ; Xin Hua ZHANG ; Ying GUO ; Qing CAO ; Li Juan LUO ; Zhong Bin TAO ; Wen Kai YANG ; Yong Kang ZHOU ; Yuan CHEN ; Li Jie FENG ; Guo Long ZHU ; Yan Hong ZHANG ; Ping XUE ; Xiao Qin LI ; Zheng Zhen TANG ; De Hui ZHANG ; Xue Wen SU ; Zheng Hai QU ; Ying ZHANG ; Shi Yong ZHAO ; Zheng Hong QI ; Lin PANG ; Cai Ying WANG ; Hui Ling DENG ; Xing Lou LIU ; Ying Hu CHEN ; Sainan SHU
Chinese Journal of Pediatrics 2022;60(10):1045-1053
Objective: To analyze the clinical epidemiological characteristics including composition of pathogens , clinical characteristics, and disease prognosis acute bacterial meningitis (ABM) in Chinese children. Methods: A retrospective analysis was performed on the clinical and laboratory data of 1 610 children <15 years of age with ABM in 33 tertiary hospitals in China from January 2019 to December 2020. Patients were divided into different groups according to age,<28 days group, 28 days to <3 months group, 3 months to <1 year group, 1-<5 years of age group, 5-<15 years of age group; etiology confirmed group and clinically diagnosed group according to etiology diagnosis. Non-numeric variables were analyzed with the Chi-square test or Fisher's exact test, while non-normal distrituction numeric variables were compared with nonparametric test. Results: Among 1 610 children with ABM, 955 were male and 650 were female (5 cases were not provided with gender information), and the age of onset was 1.5 (0.5, 5.5) months. There were 588 cases age from <28 days, 462 cases age from 28 days to <3 months, 302 cases age from 3 months to <1 year of age group, 156 cases in the 1-<5 years of age and 101 cases in the 5-<15 years of age. The detection rates were 38.8% (95/245) and 31.5% (70/222) of Escherichia coli and 27.8% (68/245) and 35.1% (78/222) of Streptococcus agalactiae in infants younger than 28 days of age and 28 days to 3 months of age; the detection rates of Streptococcus pneumonia, Escherichia coli, and Streptococcus agalactiae were 34.3% (61/178), 14.0% (25/178) and 13.5% (24/178) in the 3 months of age to <1 year of age group; the dominant pathogens were Streptococcus pneumoniae and the detection rate were 67.9% (74/109) and 44.4% (16/36) in the 1-<5 years of age and 5-<15 years of age . There were 9.7% (19/195) strains of Escherichia coli producing ultra-broad-spectrum β-lactamases. The positive rates of cerebrospinal fluid (CSF) culture and blood culture were 32.2% (515/1 598) and 25.0% (400/1 598), while 38.2% (126/330)and 25.3% (21/83) in CSF metagenomics next generation sequencing and Streptococcus pneumoniae antigen detection. There were 4.3% (32/790) cases of which CSF white blood cell counts were normal in etiology confirmed group. Among 1 610 children with ABM, main intracranial imaging complications were subdural effusion and (or) empyema in 349 cases (21.7%), hydrocephalus in 233 cases (14.5%), brain abscess in 178 cases (11.1%), and other cerebrovascular diseases, including encephalomalacia, cerebral infarction, and encephalatrophy, in 174 cases (10.8%). Among the 166 cases (10.3%) with unfavorable outcome, 32 cases (2.0%) died among whom 24 cases died before 1 year of age, and 37 cases (2.3%) had recurrence among whom 25 cases had recurrence within 3 weeks. The incidences of subdural effusion and (or) empyema, brain abscess and ependymitis in the etiology confirmed group were significantly higher than those in the clinically diagnosed group (26.2% (207/790) vs. 17.3% (142/820), 13.0% (103/790) vs. 9.1% (75/820), 4.6% (36/790) vs. 2.7% (22/820), χ2=18.71, 6.20, 4.07, all P<0.05), but there was no significant difference in the unfavorable outcomes, mortility, and recurrence between these 2 groups (all P>0.05). Conclusions: The onset age of ABM in children is usually within 1 year of age, especially <3 months. The common pathogens in infants <3 months of age are Escherichia coli and Streptococcus agalactiae, and the dominant pathogen in infant ≥3 months is Streptococcus pneumoniae. Subdural effusion and (or) empyema and hydrocephalus are common complications. ABM should not be excluded even if CSF white blood cell counts is within normal range. Standardized bacteriological examination should be paid more attention to increase the pathogenic detection rate. Non-culture CSF detection methods may facilitate the pathogenic diagnosis.
Adolescent
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Brain Abscess
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Child
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Child, Preschool
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Escherichia coli
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Female
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Humans
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Hydrocephalus
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Infant
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Infant, Newborn
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Male
;
Meningitis, Bacterial/epidemiology*
;
Retrospective Studies
;
Streptococcus agalactiae
;
Streptococcus pneumoniae
;
Subdural Effusion
;
beta-Lactamases
5.Factors affecting phenotypes in the patients with MMACHC gene c. 609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria
Ruxuan HE ; Ruo MO ; Yao ZHANG ; Ming SHEN ; Lulu KANG ; Zhehui CHEN ; Yi LIU ; Jinqing SONG ; Hongwu ZHANG ; Hongxin YAO ; Yupeng LIU ; Hui DONG ; Ying JIN ; Mengqiu LI ; Jiong QIN ; Hong ZHENG ; Yongxing CHEN ; Haiyan WEI ; Dongxiao LI ; Xiyuan LI ; Rongxiu ZHENG ; Huifeng ZHANG ; Min HUANG ; Chunyan ZHANG ; Yuwu JIANG ; Desheng LIANG ; Yaping TIAN ; Yanling YANG
Chinese Journal of Medical Genetics 2022;39(6):565-570
Objective:To investigate the factors affecting phenotypes in the patients of methylmalonic acidemia combined with homocysteinemia cblC type with MMACHC c. 609G>A homologous variant. Methods:A retrospective study on the clinical manifestations, complications, treatment, and outcome in 164patients of cblC type with MMACHC c. 609G>A homologous variant was conducted.The patients were diagnosed by biochemical and genetic analysisfrom January 1998 to December 2020. Results:Among the 164 patients, 2 cases were prenatally diagnosed and began treatment after birth. They are 3 and 12 years old with normal physical and mental development. Twenty-one cases were diagnosed by newborn screening. Among them, 15 cases had with normal development. They were treated fromthe age of two weeks at the asymptomatic period. Six cases began treatment aged 1 to 3 months after onset. Their development was delayed. One hundred and forty-one cases were clinically diagnosed. Their onset age ranges from a few minutes after birth to 6 years old. 110 cases had early-onset (78.0%). 31 cases had late-onset (22.0%). Five of them died. 24 patients lost to follow-up. Of the 141 clinically diagnosed patients, 130 (92.2%) with psychomotor retardation, 69 (48.9%) with epilepsy, 39 (27.7%) with anemia, 30 (21.3%) had visual impairment, 27 (19.1%) had hydrocephalus, 26 (18.4%) had feeding difficulties, 7 (5.0%) with liver damage, and 5 (3.5%) with metabolic syndrome. The frequency of hydrocephalus and seizures was significantly higher in the early-onset group. The urinary methylmalonic acid increased significantly in the patients with epilepsy. During the long-term follow-up, the level of plasma total homocysteine in the seizure-uncontrolled group was significantly higher than that in the seizure-controlled group, the difference had a statistical significance ( P<0.05). Conclusion:Most of the patients with MMACHC c. 609G>A homozygous variant had early-onset disease, with a high mortality and disability rate. If not treated in time, it will lead to neurological damage, resulting in epilepsy, mental retardation, hydrocephalus, and multiple organ damage. Pre-symptomatic diagnosis and treatment are crucial to prevent irreversible neurological damage. Neonatal screening and prenatal diagnosis are important to improve the outcome of the patients.
6.The efficacy of non-transecting uerthroplasty in the management of bulbar urethral stricture
Hong XIE ; Tao YANG ; Zhiqiang LUO ; Lujie SONG ; Jiong ZHANG ; Chongrui JIN ; Xiaoyong HU ; Qiang FU
Chinese Journal of Urology 2021;42(8):609-614
Objective:To compare efficacy and erectile function outcome of Non-transecting Urethroplasty (NTU)with excision and primary anastomotic urethroplasty(EPA) in the management of bulbar urethral stricture.Method:A retrospective analysis of the case data of 73 patients with bulbar urethral stricture admitted to Shanghai Sixth People's Hospital from January 2016 to December 2019. The patients are 18 to 60 years old, because of the stenosis of the bulbous urethra, the length of the stenosis is less than 2 cm, and there is no history of urethral surgery, no multiple urethral stricture, and no obvious ED before surgery. According to the operation method, the patients were divided into 25 cases in NTU group and 48 cases in EPA group. The ages of the NTU group and the EPA group were (39.2±9.4) years and (42.1±9.3) years, respectively. The course of the disease was 6.0(3.0-14.0) months and 6.5(3.0-11.0) months, respectively, and the body mass index was (23.7±3.2) kg/m 2 and (24.5±2.7) kg/m 2, the preoperative maximum urine flow rate (Q max) was (8.7±4.3) ml/s and (7.9±4.6) ml/s, respectively, and the length of the stenosis was respectively (1.7±0.4) cm and (1.8±0.2) cm, the preoperative International Erectile Function Questionnaire (IIEF-5) was (20.9±1.9) points and (21.3±2.1) points, respectively, the difference was not statistically significant ( P>0.05). The etiology of NTU group and EPA group were 8 cases (32.0%) and 31 cases (64.6%) of trauma, 11 cases (44.0%) and 9 cases (18.8%) of iatrogenic injury, and 6 cases (24.0%) and 8 cases (16.7%), the difference was statistically significant ( P=0.023). All operations were performed by the same team of doctors. The urethral scar was assessed during the operation. If the scar tissue can be completely removed without breaking the urethra, NTU is performed. The distal end of the urethra is cut at the dorsal side of the narrow segment of the urethra, and the urethral scar is removed in a transverse wedge shape. The urethra is sutured; otherwise, EPA is performed, the urethra is completely cut off, the stricture of the urethra and surrounding scar tissue is completely removed, and the urethra end-to-end anastomosis is performed. Record the operation time and intraoperative bleeding. Difficulty urinating after surgery, urethral microscopy and urethral angiography showed that the urethral stricture at the surgical site was defined as a failure of the operation. The urinary catheter was removed 3 weeks after surgery, urine flow rate was measured at 3 weeks, 6 months, and 12 months after surgery, erectile function was evaluated 12 months after surgery, and urethral angiography was performed 1 to 2 years after surgery. Result:All 73 operations in this study were successfully completed. The operation time of NTU group and EPA group were (67.6±11.3) min and (62.7±10.1) min, respectively, and the difference was not statistically significant ( P=0.063); intraoperative blood loss was (71.6±16.2) ml and (86.0±20.8) ml, the difference was statistically significant ( P=0.004). The postoperative median follow-up time was 18.0 months (13-38 months). The surgical success rates of the NTU group and EPA group were 92.0%(23/25) and 93.8%(45/48), respectively. The Q max of the NTU group and the EPA group were (26.7±3.6) ml/s and (28.1±8.7) ml/s, (25.2±3.5) ml/s and (26.7±8.1) ml/s, (25.0±4.3) ml/s and (26.2±7.2) ml/s; the IIEF-5 scores were (21.8±1.6) and (20.6±2.9) points respectively at 12 months after operation, the difference was both No statistical significance ( P>0.05). There was a statistically significant difference in IIEF-5 between NTU group and preoperative ( P=0.023). Conclusion:NTU can achieve the same outcomes as EPA in the management of bulbar urethral stricture. More importantly, the continuance of bulbar urethra is attained and avoiding rupture of bulbar cavernous artery, so as to protect the blood supply of penile and erectile function. NTU is a minimally invasive, feasible surgical method, which is advised for the patients with shorter stricture segment and fewer fibrosis.
7.Clinical and genetic studies on 76 patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria
Ruxuan HE ; Hui DONG ; Hongwu ZHANG ; Yao ZHANG ; Lulu KANG ; Hui LI ; Ming SHEN ; Ruo MO ; Jinqing SONG ; Yupeng LIU ; Zhehui CHEN ; Yi LIU ; Ying JIN ; Mengqiu LI ; Hong ZHENG ; Dongxiao LI ; Jiong QIN ; Huifeng ZHANG ; Min HUANG ; Rongxiu ZHENG ; Desheng LIANG ; Yaping TIAN ; Hongxin YAO ; Yanling YANG
Chinese Journal of Pediatrics 2021;59(6):459-465
Objective:To analyze the clinical features, genetic characteristics, treatment and follow-up results of patients with hydrocephalus caused by methylmalonic acidemia combined with homocysteinuria, and to discuss the optimal strategies for assessing and treating such patients.Methods:From January 1998 to December 2020, 76 patients with hydrocephalus due to methylmalonic acidemia combined with homocysteinuria in the Department of Pediatrics in 11 hospitals including Peking University First Hospital were diagnosed by biochemical, genetic analysis and brain imaging examination. The patients were divided into operation-group and non-operation-group according to whether they underwent ventriculoperitoneal shunt. The clinical features, laboratory examinations, genotype, and follow-up data were retrospectively analyzed. Data were compared between the two groups using rank sum test, and categorical data were compared using χ 2 test. Results:Among the 76 patients (51 male, 25 female), 5 were detected by newborn screening, while 71 were diagnosed after clinical onset, 68 cases (96%) had early-onset, 3 cases (4%) had late-onset. The most common clinical manifestations of 74 cases with complete data were psychomotor retardation in 74 cases (100%), visual impairment in 74 cases (100%), epilepsy in 44 cases (59%), anemia in 31 cases (42%), hypotonia or hypertonia in 21 cases (28%), feeding difficulties in 19 cases (26%) and disturbance of consciousness in 17 cases (23%). Genetic analysis was performed in 76 cases, all of whom had MMACHC gene variations, including 30 homozygous variations of MMACHC c.609G>A. The most common variations were c.609G>A (94, 62.7%), followed by c.658_660del (18, 12.0%), c.567dupT (9, 6.0%) and c.217C>T (8, 5.3%). Therapy including cobalamin intramuscular injection, L-carnitine and betaine were initiated immediately after diagnosis. A ventriculoperitoneal shunt operation was performed in 41 cases (operation group), and 31 patients improved after metabolic intervention (non-operation group). There was no significant difference in the age of onset, the age of diagnosis, the blood total homocysteine, methionine, and urinary methylmalonic acid concentration between the two groups (all P>0.05). The symptoms of psychomotor development, epilepsy, and visual impairments improved gradually after a long-term follow-up in the operation group. Conclusions:Hydrocephalus is a severe complication of methylmalonic acidemia combined with homocysteinuria. The most common clinical manifestations are psychomotor retardation, visual impairment, and epilepsy. It usually occurs in early-onset patients. Early diagnosis and etiological treatment are very important. Hydrocephalus may improve after metabolic intervention in some patients. For patients with severe ventricular dilatation, prompt surgical intervention can improve the prognosis.
8. Analysis of risk factors for recurrent urethral stricture after excision and primary anastomotic urethroplasty
Tao YANG ; Hong XIE ; Qiang FU ; Yinglong SA ; Jiong ZHANG ; Lujie SONG ; Chongrui JIN
Chinese Journal of Urology 2020;41(1):32-36
Objective:
To analysis the risk factors for stricture recurrence after excision and primary anastomotic urethroplasty(EPA).
Methods:
209 urethral stricture cases managed with EPA were retrospectively studied from January 2017 to December 2018 in our center. Of all the patients, 183 cases were diagnosed as posterior urethral stricture and 26 cases were diagnosed as bulbar urethral stricture. Their age ranged from 5 to 78 years(mean 42.1 years). 25 cases(12.0%) were defined as the obesity, whose BMI was more than 28 kg/m2. 12 cases(5.7%) has the history of diabetes mellitus. 103 cases(49.3%) smoked at least three months before operation. 127 cases(60.8%) didn't have the history of dilation. 42 cases(20.1%)had the history of dilation once or twice. 40 cases (19.1%)had the history of dilation more than three times. The history of urethroplasty included once in 38 cases(18.2%)and more than twice in 8 cases(3.8%). The location of stricture included posterior urethral stricture in 183 cases and bulbar stricture in 26 cases. The history of stricture ranged from 1 to 360 months(mean 35.1 months). The stricture length was(3.19±0.65)cm. The causes including trauma in 190 cases, iatrogenic urethral injury in 12 cases, inflammatory in 2 cases and others in 5 cases. The standard of stricture recurrence were defined as the urination difficulty after removal of catheter and endoscopic or radiographic evidence of obstruction in the area of repair. Univariate and multivariate analysis were performed by the use of Cox′s proportional hazards regression model to identify the related factors for stricture recurrence.
Result:
The following up period was ranged from 3 to 32 months(average 18.78 months). Recurrence occurred in 31 cases in the period of 1.0 to 18.0 months(average 5.34 months). Factors had statistical differences in univariate analysis including stricture period(
9. Effect of hyperuricemia on the clinicopathological features and progression of IgA nephropathy
Jiong CUI ; Jin LIN ; Xiao-hong ZHANG ; Jian-xin WAN
Chinese Journal of Practical Internal Medicine 2019;39(12):1073-1079
OBJECTIVE: To investigate the clinical and pathological features in hyperuricemic IgA nephropathy,and the effect of hyperuricemia on progression of IgAN.METHODS: Patients with IgAN confirmed by renal biopsy were enrolled.Those patients were admitted to the First Affiliated Hospital of Fujian Medical University from January 2006 to December 2016.The relationship between uric acid and clinical and pathological changes was analyzed.Patients were followed up and the level of serum creatinine was measured.Primary endpoint was double of creatinine or end-stage renal disease(ESRD)or renal replacement therapy.Risk factors of progression in IgAN were assessed using Kaplan-Meier and Cox proportional hazards analyses.RESULTS: A total of 231 patients with IgAN either reached the endpoint or followed up for more than 2 years were enrolled.Among these patients,the prevalence of hyperuricaemia was 39.8%.There were significant differences in gender,systolic blood pressure,diastolic blood pressure,serum creatinine,blood urea nitrogen,24-hour urine protein,eGFR,degree of tubule atrophy/interstitial fibrosis between high(H-UA)group and normal(N-UA)uric acid group(P<0.05).A total of29 patients reached the endpoint.Univariate COX regression analysis showed that there were significant differences between the progressive group and the non-progressive group in glomerulosclerosis,renal tubular atrophy/interstitial fibrosis,24-hour urine protein quantification,hyperuricemia,anemia,hypertension,blood creatinine,and blood urea nitrogen(P<0.05).Kaplan-Meier survival curve suggested that renal survival was lower in H-UA IgAN group.Anemia,24-hour urine protein,glomerulosclerosis,and serum creatinine are independent risk factors for progression of Ig AN assessed by multivariate analysis.CONCLUSION: Hyperuricemia may be positively associated with severe clinical and pathological damage,more renal tubular atrophy/interstitial fibrosis lesions,and lower renal survival.
10.Analysis of the donor site complications after long-strip lingual mucosal graft for the treatment of long-segment anterior urethral strictures in males
Yuemin XU ; Chao LI ; Hong XIE ; Hongbin LI ; Lujie SONG ; Chao FENG ; Qiang FU ; Yinglong SA ; Jiong ZHANG ; Chongrui JIN
Chinese Journal of Urology 2018;39(8):606-609
Objective To analyze the donor site complications of male patients with long segment anterior urethral strictures that underwent urethroplasty by using a long-strip lingual mucosal grafts (LMG) six months later.Methods Between August 2006 and December 2014,a total of 81 patients with long segment anterior urethral stricture underwent a procedure of urethroplasty using a long-strip LMG.The mean patients' age was 41.2 years (range 18-74) and the mean urethral stricture length was 12.1 cm (range,8-20 cm),a single LMG was more than 9 cm.Two techniques of urethroplasty were performed:One-sided dorsal graft augmentation urethroplasty was performed in 70 patients,12 of the 70 patients underwent urethroplasty by using a LMG in addition to a BMG,owing to the presence of very long strictures;Dorsal patch graft urethroplasty was performed in 11 patients.Results Of the 81 patients a single long-strip LMG with length of 9-11 cm was used in 52 patients,LMG measured ≥12 cm in 17,and LMG combined with buccal mucosal graft (BMG) in 12.The mean follow-up period was 41 months (range,15-86 months) postoperatively.The overall urethroplasty success rate was 82.7%.Six months after the operation,28 patients (34.6%) reported a minimal to moderate difficulty in fine motor movement of the tongue (difficulty with spitting tiny fish bones).Among these 28,22 patients (27.2 %) had associated numbness over the donor site,10 patients (12.3%) had parageusia,and 11 patients (13.6%) reported slurring of speech.The donor site complications occurred higher in patients with LMG length ≥ 12 cm (14/29) than those patients with LMG length < 12 cm (14/52)(x2 =19.049,P <0.01).At 12 months,5 patients (6.2%)reported minimal difficulty in fine motor movement of the tongue,and reduced to 1 patient at 24 months.Conclusions The donor side complications after long-strip lingual mucosal graft for the treatment of longsegment anterior urethral strictures are primarily limited to the first postoperative year,the incidence of complications appeared to be related to the length of the harvested graft.

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