1.The role of four-generation Oxford nanopore sequencing technology in searching for pathogenic bacteria in periprosthetic infection
Liqiang ZHI ; Xiaofeng CHANG ; Jianbing MA ; Chaoyang WANG ; Qiang ZAN ; Shihang CAO ; Xiangxiang SUN
Chinese Journal of Orthopaedics 2024;44(6):395-401
Objective:To explore the application value of Oxford nanopore technologies (ONT) in the diagnosis and treatment of periprosthetic joint infection (PJI).Methods:A prospective analysis was conducted on 32 patients with PJI admitted to the joint department of Xi'an Honghui Hospital from October 2021 to March 2023, who met the 2018 PJI diagnostic criteria of the American Skeletal Infection Society (MSIS), including 15 males and 17 females with an average age of 63.93±8.93 years. 32 revision patients who did not meet the 2018 MSIS PJI criteria during the same period were collected as controls (non PJI group), including 13 males and 19 females with an average age of 65.53±8.54 years. All patients underwent joint fluid puncture before or during surgery, and the specimens were tested by ONT, metagenomic next generation sequencing (mNGS), and general microbial culture. The receiver operating characteristic (ROC) curves were drawn for both groups, and the sensitivity, specificity, positive predictive value, negative predictive value, and Youden index of the three detection techniques were calculated and compared to evaluate the detection efficiency of different detection methods in PJI.Results:Among the 32 patients with PJI, 30 were positive for ONT, with a total of 30 pathogenic bacteria detected, and the detection time was 22.37±8.36 h. 31 were positive for mNGS, with a total of 33 bacterial species detected, and the detection time was 46.25±9.36 h. 17 were positive for microbial culture, with a total of 8 bacterial species detected, and the detection time was 96.23±15.62 h. Among the 32 patients with non PJI group, 1 was positive for ONT and 5 were positive for mNGS, with a total of 1 and 3 bacterial species detected, respectively. The results of microbial culture were all negative. The detection time and area under the curve (AUC) of ONT and mNGS were 22.37±8.36 h and 0.953[95% CI (0.901, 1.006)], 46.25±9.36 h and 0.906[95% CI (0.835, 0.977)], respectively, which were better than those of microbial culture 96.23±15.62 h and 0.766[95% CI (0.678, 0.853)], and the difference was statistically significant ( P<0.05). The sensitivity of ONT, mNGS, and microbial culture were 0.938, 0.969, and 0.531, respectively, and the specificity was 0.969, 0.844, and 1.000, respectively. The Jordan index was 0.906, 0.813, and 0.531, respectively. Conclusion:ONT testing has higher diagnostic efficacy than mNGS and microbial culture in the diagnosis of PJI, and also has advantages in detection time. It also suggests that some PJI are not caused by a single microbial infection.
2.Identification of oxidative stress-related biomarkers in chronic rhinosinusitis with nasal polyps using WGCNA combined with machine learning algorithms
Ye YUAN ; Xueyun SHI ; Xinyi MA ; Xinyu XIE ; Changhua WU ; Liqiang ZHANG ; Xuezhong LI ; Pin WANG ; Xin FENG
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2024;59(6):560-572
Objective:To identify diagnostic markers related to oxidative stress in chronic rhinosinusitis with nasal polyps (CRSwNP) by analyzing transcriptome sequencing data, and to investigate their roles in CRSwNP.Methods:Utilizing four CRSwNP sequencing datasets, differentially expressed genes (DEGs) analysis, weighted gene co-expression network analysis (WGCNA), and three machine learning methods for Hub gene selection were performed in this study. Subsequent validation was carried out using external datasets, as well as real-time quantitative polymerase chain reaction (Real-time qPCR), and immunofluorescence staining of clinical samples. Moreover, the diagnostic efficacy of the genes was assessed by receiver operating characteristic (ROC) curve, followed by functional and pathway enrichment analysis, immune-related analysis, and cell population localization. Additionally, a competing endogenous RNA (CeRNA) network was constructed to predict potential drug targets. Statistical analysis and plotting were conducted using SPSS 26.0 and Graphpad Prism9 software.Results:Through data analysis and clinical validation, CP, SERPINF1 and GSTO2 were identified among 4 138 DEGs as oxidative stress markers related to CRSwNP. Specifically, the expression of CP and SERPINF1 increased in CRSwNP, whereas that of GSTO2 decreased, with statistically significant differences ( P<0.05). Additionally, an area under the curve (AUC)>0.7 indicated their effectiveness as diagnostic indicators. Importantly, functional analysis indicated that these genes were mainly related to lipid metabolism, cell adhesion migration, and immunity. Single-cell data analysis revealed that SERPINF1 was mainly distributed in epithelial cells, stromal cells, and fibroblasts, while CP was primarily located in epithelial cells, and GSTO2 was minimally present in the epithelial cells and fibroblasts of nasal polyps. Consequently, a CeRNA regulatory network was constructed for the genes CP and GSTO2. This construction allowed for the prediction of potential drugs that could target CP. Conclusion:This study successfully identifies CP, SERPINF1 and GSTO2 as diagnostic and therapeutic markers related to oxidative stress in CRSwNP.
3.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
4.Impact of the fat mass index on early functional recovery after total knee arthroplasty
Liqiang ZHI ; Qiang ZAN ; Zengrui ZHANG ; Chao XU ; Zhong QING ; Jianbing MA ; Yongcheng CHEN
Chinese Journal of Orthopaedics 2023;43(11):737-743
Objective:To investigate the effect of fat mass index (FMI) on early recovery after total knee arthroplasty (TKA).Methods:Patients who underwent primary unilateral TKA in Xi'an Honghui Hospital from July 2020 to July 2021 were retrospectively analyzed. The preoperative body composition was measured by dual energy X-ray absorptiometry and the FMI was calculated. Patients were divided into normal group (male: 3.0-6.0 kg/m 2; female: 5.0-9.0 kg/m 2), overweight group (male: 6.1-9.0 kg/m 2; female: 9.1-13.0 kg/m 2), and obese group (male: >9 kg/m 2; female: >13 kg/m 2) according to level of FMI, and the operation time, blood loss, and incidence of postoperative complications were collected. Multifactorial analysis of the effect of FMI on early recovery after TKA was performed using a generalized linear model. Draw the receiver operating characteristics (ROC) curve of BMI and FMI on the predicted effect of postoperative Western Ontario and McMaster Universities (WOMAC) osteoarthritis index scores and Knee Society Score (KSS) to compare the effect of FMI with BMI on early recovery after TKA. Results:A total of 100 patients were included in the study, 24 males and 76 females, aged 65.0±8.2 years (range, 42-81 years). There were 15 cases in normal group, 55 cases in overweight group and 30 cases in obese group. All patients successfully completed the operation and were followed up for 3.15±0.72 months (range, 2.8-3.2 months). The WOMAC scores of the obese group at 2 weeks, 1 and 2 months postoperative were 34.57±3.68, 22.03±2.79, and 15.77±2.96, which were greater than those of the normal group (28.73 ±2.58, 19.07±2.71, 12.27±3.10), as well as the overweight group (30.05±4.09, 19.33±2.42, 14.84±2.42), with statistically significant differences ( P<0.05). The KSS scores of the obese group at postoperative 1 and 2 months were 68.83±5.52 and 81.17±4.49, which were lower than those of the normal group (77.33±5.63, 87.33±4.17), as well as the overweight group (72.64±5.43, 83.73 ±5.02), with statistically significant differences ( P<0.05). The WOMAC score, KSS score, and postoperative complications at 2 months postoperatively were selected as outcome indicators to plot the ROC curve, and the ROC curve for the WOMAC score at 2 months postoperatively showed an area under the curve corresponding to FMI of 0.744 (95% CI: 0.54, 0.82), which was greater than that of BMI [0.624 (95% CI: 0.51, 0.74)], and the difference was statistically significant ( Z=2.19, P=0.021). The ROC curve for the KSS score at 2 months postoperatively showed an area under the curve corresponding to FMI of 0.718 (95% CI: 0.62, 0.82), which was greater than that of BMI [0.612 (95% CI: 0.52, 0.74)], with a statistically significant difference ( Z=2.58, P=0.016). The ROC curve for postoperative complications showed an area under the curve of 0.639 (95% CI: 0.41, 0.88) for FMI and 0.605 (95% CI: 0.37, 0.84) for BMI, with no statistically significant difference ( Z=0.48, P=0.632). Conclusion:The greater the FMI the poorer the early functional recovery after initial TKA, and FMI is more valuable than BMI in predicting the early functional recovery.
5.Plantar Pressure Analysis after Medial Opening Wedge High Tibial Osteotomy Treatment of Medial Single Compartmental Knee Osteoarthritis
Zhaoyang WANG ; Zhong QING ; Liqiang ZHI ; Qiang ZAN ; Hua SHAN ; Le SHANG ; Jianbing MA ; Chao XU
Journal of Medical Biomechanics 2023;38(2):E310-E316
Objective To analyze the plantar pressure distribution of knee osteoarthritis ( KOA) patients after medial opening wedge high tibial osteotomy ( MOWHTO), so as to provide biomechanical references for the surgical treatment and rehabilitation of patients. Methods A total of 31 patients with medial single compartmental KOA after unilateral MOWHTO treatment were selected as the experimental group, and 35 healthy subjects at same age were selected as the control group. The Pedomedic 40 pressure measuring system was used to test dynamic plantar pressure. By comparing the maximum pressure ( pmax ), force-time integral ( FTI) and contact area (CA) of different plantar zones between the experimental group (operative side and unoperated side) and the control group during walking, the changes of plantar pressure in patients with medial single compartmental KOA after MOWHTO were evaluated. Results Compared with the unoperated side and the control group, the CA and FTI of the 1st metatarsal head (MH1) were higher (P<0. 05), the CA of the 4th metatarsal head (MH4)was smaller (P<0. 001), the pmax and FTI of the 5th metatarsal head (MH5) were smaller (P<0. 05), the CA of the lateral middle foot (MF-L) was smaller (P<0. 001), and the CA of the medial rear foot (RF-M) was larger (P<0. 05). Compared with the control group, the pmax of MH1 and MH2 was smaller (P<0. 05), the CA and FTI of MH5 were larger (P<0. 05), the pmax of MF-L was larger (P<0. 001), and the FTI of lateral rear foot (RF-L) was larger (P<0. 05). Conclusions Compared with healthy people, patients with medial single compartmental KOA have abnormal plantar pressure residual after MOWHTO. In clinical practice, targeted intensive rehabilitation therapy is necessary to restore the normal plantar distributions of patients.
6.Clinical study of novel glanuloplasty based on retrograde design method in phalloplasty
Zilong CAO ; Zhe YANG ; Yangqun LI ; Ning MA ; Liqiang LIU
Chinese Journal of Plastic Surgery 2023;39(6):621-627
Objective:To explore the clinical value and effect of the application of a three-dimensional retrograde design method to improve glanuloplasty.Methods:Patients treated with novel glanuloplasty from April 2019 to March 2022 in the Plastic Surgery Hospital, Chinese Academy of Medical Sciences were analyzed retrospectively. Before the operation, a normal penis model was constructed in vitro by a three-dimensional retrograde design method. Copy and rub the shape of the neopenis, which was divided into four parts: head, neck, body, and tail. During the operation, the "arrow" anterolateral thigh (ALT) flap was harvested to construct the neoglans and urethra, the bilateral gracilis muscles and fascia lata were assembled to construct the penile shaft, and free skin graft acted as the foreskin to cover the wound. The appearance and touch of the neoglans, the change in the length and circumference of the neopenis, and the patient’s satisfaction were evaluated.Results:Five patients were enrolled, with an average of 23.4 (20-32) years. Among them, 3 cases were diagnosed as perineal hypospadias, 1 case was congenital micropenis, and 1 case was traumatic penile absence. All the neoglans survived well after the operation, and the meatus of the urethra was located at the top of the neopenis. The donor sites could be sutured primarily without skin grafting. All patients underwent secondary urethral anastomosis 6-9 months after the first stage. Follow-up for 6-12 months after the operation showed that the neoglans had no deformation and the tactile sensation had recovered well. All patients were satisfied with the color, size, and appearance of the neoglans. The neopenis could contract spontaneously about 6 months after the operation, get erection and maintain a certain hardness. The length and circumference of the neopenis decreased to a certain extent within 3 months after the operation, but it was stable at 6 months. The change rate of length was -10.34% to -25.00%, and the change rate of circumference was -5.88% to -13.89%. All patients could urinate in the standing position, and the urine line was normal after the second stage of urethral anastomosis.Conclusion:Based on the concept of retrograde flap design, the "arrow-shaped" ALT flap can construct vivid neoglans and obtain a good prognosis in clinical practice. This technique is easy to operate and can be used for preoperative three-dimensional simulation of body surface organs.
7.Clinical study of novel glanuloplasty based on retrograde design method in phalloplasty
Zilong CAO ; Zhe YANG ; Yangqun LI ; Ning MA ; Liqiang LIU
Chinese Journal of Plastic Surgery 2023;39(6):621-627
Objective:To explore the clinical value and effect of the application of a three-dimensional retrograde design method to improve glanuloplasty.Methods:Patients treated with novel glanuloplasty from April 2019 to March 2022 in the Plastic Surgery Hospital, Chinese Academy of Medical Sciences were analyzed retrospectively. Before the operation, a normal penis model was constructed in vitro by a three-dimensional retrograde design method. Copy and rub the shape of the neopenis, which was divided into four parts: head, neck, body, and tail. During the operation, the "arrow" anterolateral thigh (ALT) flap was harvested to construct the neoglans and urethra, the bilateral gracilis muscles and fascia lata were assembled to construct the penile shaft, and free skin graft acted as the foreskin to cover the wound. The appearance and touch of the neoglans, the change in the length and circumference of the neopenis, and the patient’s satisfaction were evaluated.Results:Five patients were enrolled, with an average of 23.4 (20-32) years. Among them, 3 cases were diagnosed as perineal hypospadias, 1 case was congenital micropenis, and 1 case was traumatic penile absence. All the neoglans survived well after the operation, and the meatus of the urethra was located at the top of the neopenis. The donor sites could be sutured primarily without skin grafting. All patients underwent secondary urethral anastomosis 6-9 months after the first stage. Follow-up for 6-12 months after the operation showed that the neoglans had no deformation and the tactile sensation had recovered well. All patients were satisfied with the color, size, and appearance of the neoglans. The neopenis could contract spontaneously about 6 months after the operation, get erection and maintain a certain hardness. The length and circumference of the neopenis decreased to a certain extent within 3 months after the operation, but it was stable at 6 months. The change rate of length was -10.34% to -25.00%, and the change rate of circumference was -5.88% to -13.89%. All patients could urinate in the standing position, and the urine line was normal after the second stage of urethral anastomosis.Conclusion:Based on the concept of retrograde flap design, the "arrow-shaped" ALT flap can construct vivid neoglans and obtain a good prognosis in clinical practice. This technique is easy to operate and can be used for preoperative three-dimensional simulation of body surface organs.
8.Efficacy evaluation of acupuncture combined with acupoint application in the treatment of intestinal dysfunction secondary to mechanical ventilation in elderly patients with emergency sepsis
Li LI ; Jun YAN ; Caijun WU ; Linqin MA ; Guangming ZHENG ; Haifeng GUO ; Jian WANG ; Zhe YANG ; Liqiang NIU
Journal of Chinese Physician 2022;24(4):486-489
Objective:To compare the efficacy of conventional Western medicine alone and acupuncture combined with acupoint application in treating intestinal dysfunction secondary to mechanical ventilation in elderly patients with emergency sepsis.Methods:A retrospective analysis was performed on 111 elderly patients with mechanical ventilation for sepsis admitted to the emergency department of Dongzhimen Hospital of Beijing University of Chinese Medicine from January 2019 to June 2021. They were divided into two groups according to the time of admission: Western medicine treatment group alone (patients from January 2019 to December 2019, n=47) and acupuncture combined with acupoint application group (patients from January 2020 to June 2021, n=64). Acupuncture combined with acupoint application group was treated with acupuncture combined with acupoint application on the basis of conventional Western medicine. The intestinal dysfunction score, abdominal circumference and mortality after 4 weeks were compared between the two groups. Results:The abdominal circumference and intestinal dysfunction score in acupuncture combined with acupoint application group were significantly lower than those before treatment [(100.56±9.34)cm vs (106.25±9.74)cm; (0.92±0.72)point vs (2.31±0.69)point, all P< 0.05], while there was no significant difference in the above indexes before and after treatment in the Western medicine treatment group (all P>0.05). The abdominal circumference, intestinal dysfunction score and mortality after 4 weeks in the acupuncture combined with acupoint application group were significantly lower than those in the Western medicine treatment group [(100.56±9.34)cm vs (108.09±10.52)cm; (0.92±0.72)point vs (2.43±0.62)point; (29.7%, 19/64) vs (48.9%, 23/47), all P<0.05]. Conclusions:The curative effect of acupuncture combined with acupoint application in the treatment of intestinal dysfunction secondary to mechanical ventilation in elderly patients with sepsis in emergency is better than that of routine treatment of Western medicine alone. The gastrointestinal function and prognosis of patients have been significantly improved, which is worthy of clinical promotion.
9.Clinical characteristics of 16 patients with nucleotide excision repair disorders and literature review
Lizhu HU ; Jing WANG ; Qiuhong WANG ; Zhou YANG ; Yu HUANG ; Jing GAO ; Jian CHEN ; Bin WANG ; Rui LIU ; Xian XU ; Nan PENG ; Hui WANG ; Yujiao DENG ; Liqiang WANG ; Haixu CHEN ; Lin MA ; Liping ZOU
Chinese Journal of Applied Clinical Pediatrics 2022;37(22):1730-1735
Objective:To summarize the clinical manifestations and gene mutation features of patients with nucleotide excision repair (NER) disorders.Methods:A retrospective analysis was made on clinical data of patients with NER disorders who were admitted to the Chinese People′s Liberation Army General Hospital from October 2008 to February 2022 and diagnosed in the Outpatient Department of Beijing Children′s Hospital, Capital Medical University from October 2015 to February 2022.Literature on previously reported Chinese patients with NER disorders was reviewed.Results:(1)A total of 16 patients with NER disorders were enrolled, including 6 males and 10 females.The onset age was 7.5 (4.0, 12.0) months and the age at diagnosis was 42.0 (21.5, 77.0) months.There were 3 types of NER disorders: Cockayne syndrome (CS) in 13 cases, Xeroderma Pigmentosum (XP) in 2 cases and Cerebro-Oculo-Facio-Skeletal syndrome (COFS) in 1 case.Four disease-causing genes were detected: CSA gene in 11 cases, CSB gene in 3 cases, XPG gene in 1 case, and XPD gene in 1 case.The first symptoms of the 16 patients were photosensitivity and developmental delay, and neurological symptoms were observed in all the 3 NER disorder types.XP and CS patients had skin symptoms.CS patients presented typical facial features, visual and auditory impairment, microcephaly and changes in neuroimaging features.COFS patients showed intrauterine growth retardation.(2)Results of literature review: a total of 96 Chinese patients reported were retrieved, involving 6 disease types, including CS in 45 cases, XP in 44 cases, trichothiodystrophy in 4 cases, COFS in 1 case, XP-CS in 1 case, and ultraviolet sensitive syndrome in 1 case.Nine mutated genes were identified: CSA in 33 cases, XPA in 15 cases, CSB in 13 cases, XPV in 10 cases, XPC in 9 cases, XPG in 7 cases, XPD in 7 cases, XPF in 1 case, and MPLKIP in 1 case.The common symptoms were growth failure (62 cases), skin photosensitivity (61 cases), typical facial features (52 cases), mental retardation (49 cases) and microcephaly (48 cases). Among 36 cases had imaging data 33 cases(91.7%)had calcification of basal nucleus or globus pallidus.Three cases had intrauterine growth retardation and microcephaly during pregnancy. Conclusions:Patients with such prenatal manifestations as intrauterine growth retardation and microcephaly or with typical symptoms like skin photosensitivity, typical facial features, growth failure, mental retardation, hypertonia, and calcifications of basal ganglia should be suspected of NER disorders.Early genetic testing is recommended to confirm the diagnosis.
10.A single-center study of serum sickness caused by rabbit antithymosinglobulin therapy in children with acquired aplastic anemia
Bixi YANG ; Rui ZHANG ; Liqiang ZHANG ; Jie MA ; Jiafeng YAO ; Ying WU ; Runhui WU
Chinese Journal of Applied Clinical Pediatrics 2020;35(6):436-439
Objective:To investigate the related factors of the serum sickness morbidity in the treatment of children with acquired aplastic anemia (AA) by rabbit antithymosinglobulin (ATG), summarize the clinical characte-ristics of serum sickness and evaluate the influence of serum sickness on the prognosis of AA.Methods:The data of patients diagnosed as AA after treated with immunosuppressive therapy (IST) in Beijing Children′s Hospital, Capital Medical University, from March 2016 to December 2018 were collected, and the onset time, clinical manifestations, treatment, and prognosis of serum sickness were analyzed.Results:A total of 48 cases were enrolled, with the median age of 5 years and 5 months (ranging from 2 years and 1 month to 15 years and 6 months), and the proportion of male to female was 1.4∶1.0, 75.0% of the patients(36/48 cases) developed serum sickness.The median onset time was the 11 th day and 72.2% of the patients (26/48 cases) occurred from the 7 th to the 14 th day during IST.The 3 main clinical manifestations included arthralgia (63.9%, 23 cases), fever (52.7%, 19 cases) and rash (52.7%, 19 cases). There was no significant difference in peripheral blood leukocytes, neutrophils and lymphocytes between the patients with serum sickness and patients without serum sickness before IST and during serum sickness (all P>0.05). The incidence of serum sickness in children who received continuous glucocorticoid prophylaxis after IST (2/12 cases, 16.6%) was lower than that of those who did not (34/36 cases, 94.4%), and the difference was significant ( χ2=29.037, P<0.001). The symptoms of serum sickness improved after glucocorticoid therapy [Methylprednisolone 2-4 mg/(kg·d)]. Among 37 children who were followed up for 6 months or more after IST treatment, 25 patients had serum sickness and 12 patients did not have serum sickness.Nineteen patients with serum sickness and 10 patients without serum sickness were cured or markedly improved; 6 patients with serum sickness and 2 patients without serum sickness were not cured.No significant difference in the prognosis between 2 groups was observed ( P>0.05). Conclusion:Children with AA are prone to develop serum sickness after IST treatment.The peak period of incidence of serum sickness is the second week during IST, and the main clinical manifestations of serum sickness include arthralgia, fever, and rash.There is no correlation between the incidence of serum sickness and the blood routine test before IST and during serum sickness.The incidence of serum sickness can be reduced by giving glucocorticoid prophylaxis, and glucocorticoid is still effective after the onset of the serum sickness.There is no correlation between the morbidity of serum sickness and the prognosis of AA treated with IST.

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