1.Analysis of Human Brain Bank samples from Hebei Medical University
Juan DU ; Shi-Xiong MI ; Yu-Chuan JIN ; Qian YANG ; Min MA ; Xue-Ru ZHAO ; Feng-Cang LIU ; Chang-Yi ZHAO ; Zhan-Chi ZHANG ; Ping FAN ; Hui-Xian CUI
Acta Anatomica Sinica 2024;55(4):437-444
Objective To understand the current situation of human brain donation in Hebei Province by analyzing the basic information of Human Brain Bank samples of Hebei Medical University in order to provide basic data support for subsequent scientific research.Methods The samples collected from the Human Brain Bank of Hebei Medical University were analyzed(from December 2019 to February 2024),including gender,age,cause of death,as well as quality control data such as postmortem delay time,pH value of cerebrospinal fluid and and RNA integrity number and result of neuropathological diagnosis.Results Until February 2024,30 human brain samples were collected and stored in the Human Brain Bank of Hebei Medical University,with a male to female ratio of 9∶1.Donors over 70 years old accounted for 53%.Cardiovascular and cerebrovascular diseases(36.67%)and nervous system diseases(23.33%)accounted for a high proportion of the death causes.The location of brain tissue donors in Shijiazhuang accounted for 90%donations,and the others were from outside the city.The postmortem delay time was relatively short,90%within 12 hours and 10%more than 12 hours.69.23%of the brain samples had RNA integrity values greater than 6.Cerebrospinal fluid pH values ranged from 5.8 to 7.5,with an average value of 6.60±0.45.Brain weights ranged from 906-1496 g,with an average value of(1210.78±197.84)g.Three apolipoprotein E(APOE)alleles were detected including five genotypes(ε2/ε3,ε2/ε4,ε3/ε3,ε3/ε4,ε4/ε4).Eleven staining methods related to neuropathological diagnosis had been established and used.A total of 12 cases were diagnosed as neurodegenerative diseases(including Alzheimer's disease,Parkinson's disease,multiple system atrophy,corticobasal degeneration and progressive supranuclear palsy,etc.),accounting for 40%donated brains.The comorbidity rate of samples over 80 years old was 100%.Conclusion The summary and analyses of the data of brain donors in the Human Brain Bank of Hebei Medical University can reflect the current situation of the construction and operation of the brain bank in Hebei Province,and it can also be more targeted to understand and identify potential donors.Our information can provide reference for the construction of brain bank and provides more reliable materials and data support for scientific research.
2.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.
3.Degenerative lumbar spondylolisthesis treated by posterolateral transarticular puncture lumbar interbody fusion under full visual endoscopy.
Liang XIONG ; Hong-Wei ZHAO ; Ming-Yi LUO ; Feng-Ping LIU ; Bin LU ; Yu-Xiang DENG
China Journal of Orthopaedics and Traumatology 2024;37(12):1145-1152
OBJECTIVE:
To explore clinical effect of percutaneous endoscopic posterolateral trans-facet lumbar interbody fusion (PE-PTLIF) in treating degenerative lumbar spondylolisthesis.
METHODS:
The data of 38 patients with degenerative lumbar spondylolisthesis treated with PE-PTLIF from December 2019 to June 2021 were retrospectively analyzed, including 18 males and 20 females, aged from 39 to 75 years old with an average of (60.2±8.9) years old;1 patient with L3,4, 23 patients with L4,5, 14 patients with L5S1;29 patients with degreeⅠand 9 patients with degreeⅡaccording to Meyerding grading. Operative time, intraoperative blood loss, drainage volume, postoperative hospital stay and complcations were observed, visual analogue scale (VAS) was used to evaluate degree of lumbar and leg pain before operation, 3 d and 3, 6 and 12 months after operation, respectively. Oswestry disability index (ODI) was used to evaluate degree of low back pain dysfunction before operation, 3, 6 and 12 months after operation. The modified MacNab standard was used to evaluate clinical efficacy at 12 months after operation. Dural sac cross-sectional area (DSCSA), intervertebral disc height (IDH), lumbar spondylolisthesis rate (SR), lumbar lordosis angle (LL) and segmental lordosis angle (SL) were compared before operation and 12 months after operation. Interbody fusion at 12 months was evaluated according to Bridwell intervertebral fusion standard.
RESULTS:
All patients were followed up for 13 to 28 months with an average of (18.47±4.12) months. The operative time was (181.68±19.34) min, intraoperative blood loss was (152.87±57.03) ml, drainage volume was (48.18±11.43) ml, and postoperative hospital stay was (9.45±2.18) d and 3 patients occurred complications. VAS of lumbar pain before operation, 3 days, 3, 6 and 12 months after operation were (6.68±1.16), (4.32±1.13), (2.18±0.70), (1.89±0.56) and (1.57±0.72), respectively. VAS of leg pain were (6.24±1.42), (2.95±1.09), (1.76±0.71), (1.68±0.74) and (1.26±0.69) respectively. Preoperative and postoperative 3, 6 and 12 months of ODI were (63.21±11.21) %, (25.24±6.46) %, (20.97±6.26) % and (17.73±5.88) %, respectively. Postoperative VAS of lumbar and leg pain and ODI were significantly lower than those of preoperative time points (P<0.05). According to the modified MacNab standard, 23 patients got excellent result, 10 good, 3 fair, and 2 poor at 12 months after operation. Postoperative DSCSA, IDH, SR, LL and SL at 12 months were (128.32±21.95) mm2, (11.19±1.66) mm, (4.44±2.19)%, (49.32±5.63)°, (9.16±1.90)°, respectively, and were improved compared with preoperative [(58.36±18.11) mm2, (8.19±2.06) mm (18.43±4.78) %, (42.38±4.94) ° and (8.06±2.06) °] (P<0.05). Thirty-four patients obtained gradeⅠfusion, 3 patients woth gradⅡfusion and 1 patient with grade Ⅲ fusion at 12 months after operation according to Bridwell intervertebral fusion standard.
CONCLUSION
PE-PTLIF could provide effective method for the treatment of gradeⅠand gradeⅡdegenerative lumbar spondylolisthesis. It has advantages of less bleeding, sufficient decompression, fast postoperative recovery and high fusion rate, which could effectively relieve lumbar and leg pain, restore vertebral space height and improve lumbar sagittal balance. PE-PTLIF is a safe and minimally invasive surgery.
Humans
;
Male
;
Female
;
Spondylolisthesis/surgery*
;
Middle Aged
;
Spinal Fusion/methods*
;
Lumbar Vertebrae/surgery*
;
Aged
;
Adult
;
Retrospective Studies
;
Endoscopy/methods*
4.The efficacy of radiotherapy based combined therapy for unresectable locally invasive bladder cancer and its associated factors analysis.
Si Jin ZHONG ; Jun Jun GAO ; Ping TANG ; Yue Ping LIU ; Shu Lian WANG ; Hui FANG ; Jing Ping QIU ; Yong Wen SONG ; Bo CHEN ; Shu Nan QI ; Yuan TANG ; Ning Ning LU ; Hao JING ; Yi Rui ZHAI ; Ai Ping ZHOU ; Xin Gang BI ; Jian Hui MA ; Chang Ling LI ; Yong ZHANG ; Jian Zhong SHOU ; Nian Zeng XING ; Ye Xiong LI
Chinese Journal of Oncology 2023;45(2):175-181
Objective: Retrospective analysis of the efficacy and influencing factors of bladder preservation integrated therapy for unresectable invasive bladder cancer confined to the pelvis was done, also including the bladder function preservation and adverse effects analysis. Methods: Sixty-nine patients with unresectable locally invasive bladder cancer who received radiotherapy-based combination therapy from March 1999 to December 2021 at our hospital were selected. Among them, 42 patients received concurrent chemoradiotherapy, 32 underwent neoadjuvant chemotherapyand 43 with transurethral resection of bladder tumors (TURBT) prior to radiotherapy. The late adverse effect of radiotherapy, preservation of bladder function, replase and metastasis and survival were followed-up. Cox proportional hazards models were applied for the multifactorial analysis. Results: The median age was 69 years. There were 63 cases (91.3%) of uroepithelial carcinoma, 64 of stage Ⅲ and 4 of stage Ⅳ. The median duration of follow-up was 76 months. There were 7 grade 2 late genito urinary toxicities, 2 grade 2 gastrointestinal toxicities, no grade 3 or higher adverse events occurred. All patients maintained normal bladder function, except for 8 cases who lost bladder function due to uncontrolled tumor in the bladder. Seventeen cases recurred locally. There were 11 cases in the concurrent chemoradiotherapy group with a local recurrence rate of 26.2% (11/42) and 6 cases in the non-concurrent chemoradiotherapy group with a local recurrence rate of 22.2% (6/27), and the difference in local recurrence rate between the two groups was not statistically significant (P=0.709). There were 23 cases of distant metastasis (including 2 cases of local recurrence with distant metastasis), including 10 cases in the concurrent chemoradiotherapy group with a distant metastasis rate of 23.8% (10/42) and 13 cases in the non-concurrent chemoradiotherapy group with a distant metastasis rate of 48.1% (13/27), and the distant metastasis rate in the non-concurrent chemoradiotherapy group was higher than that in the concurrent chemoradiotherapy group (P=0.036). The median 5-year overall survival (OS) time was 59 months and the OS rate was 47.8%. The 5-year progression-free survival (PFS) time was 20 months and the PFS rate was 34.4%. The 5-year OS rates of concurrent and non-concurrent chemoradiotherapy group were 62.9% and 27.6% (P<0.001), and 5-year PFS rates were 45.4% and 20.0%, respectively (P=0.022). The 5-year OS rates of with or without neoadjuvant chemotherapy were 78.4% and 30.1% (P=0.002), and the 5-year PFS rates were 49.1% and 25.1% (P=0.087), respectively. The 5-year OS rates with or without TURBT before radiotherapy were 45.5% and 51.9% (P=0.233) and the 5-year PFS rates were 30.8% and 39.9% (P=0.198), respectively. Multivariate Cox regression analysis results showed that the clinical stage (HR=0.422, 95% CI: 0.205-0.869) was independent prognostic factor for PFS of invasive bladder cancer. The multivariate analysis showed that clinical stages (HR=0.278, 95% CI: 0.114-0.678), concurrent chemoradiotherapy (HR=0.391, 95% CI: 0.165-0.930), neoadjuvant chemotherapy (HR=0.188, 95% CI: 0.058-0.611), and recurrences (HR=10.855, 95% CI: 3.655-32.638) were independent prognostic factors for OS of invasive bladder cancer. Conclusion: Unresectable localized invasive bladder cancer can achieve satisfactory long-term outcomes with bladder-preserving combination therapy based on radiotherapy, most patients can retain normal bladder function with acceptable late adverse effects and improved survival particularly evident in patients with early, concurrent chemoradiotherapy and neoadjuvant chemotherapy.
Humans
;
Aged
;
Treatment Outcome
;
Retrospective Studies
;
Combined Modality Therapy
;
Chemoradiotherapy/methods*
;
Urinary Bladder Neoplasms/radiotherapy*
;
Antineoplastic Combined Chemotherapy Protocols/therapeutic use*
;
Neoplasm Staging
5.Treatment Outcomes in COVID-19 Patients with Brucellosis: Case Series in Heilongjiang and Systematic Review of Literature.
Man Li YANG ; Jing Ya WANG ; Xing Yu ZONG ; Li GUAN ; Hui Zhen LI ; Yi Bai XIONG ; Yu Qin LIU ; Ting LI ; Xin Yu JI ; Xi Yu SHANG ; Hui Fang ZHANG ; Yang GUO ; Zhao Yuan GONG ; Lei ZHANG ; Lin TONG ; Ren Bo CHEN ; Yi Pin FAN ; Jin QIN ; Fang WANG ; Gang LIN ; Nan Nan SHI ; Yan Ping WANG ; Yan MA
Biomedical and Environmental Sciences 2023;36(10):930-939
OBJECTIVE:
Clinical characteristics and outcome in COVID-19 with brucellosis patients has not been well demonstrated, we tried to analyze clinical outcome in local and literature COVID-19 cases with brucellosis before and after recovery.
METHODS:
We retrospectively collected hospitalization data of comorbid patients and prospectively followed up after discharge in Heilongjiang Infectious Disease Hospital from January 15, 2020 to April 29, 2022. Demographics, epidemiological, clinical symptoms, radiological and laboratory data, treatment medicines and outcomes, and follow up were analyzed, and findings of a systematic review were demonstrated.
RESULTS:
A total of four COVID-19 with brucellosis patients were included. One patient had active brucellosis before covid and 3 patients had nonactive brucellosis before brucellosis. The median age was 54.5 years, and all were males (100.0%). Two cases (50.0%) were moderate, and one was mild and asymptomatic, respectively. Three cases (75.0%) had at least one comorbidity (brucellosis excluded). All 4 patients were found in COVID-19 nucleic acid screening. Case C and D had only headache and fever on admission, respectively. Four cases were treated with Traditional Chinese medicine, western medicines for three cases, no adverse reaction occurred during hospitalization. All patients were cured and discharged. Moreover, one case (25.0%) had still active brucellosis without re-positive COVID-19, and other three cases (75.0%) have no symptoms of discomfort except one case fell fatigue and anxious during the follow-up period after recovery. Conducting the literature review, two similar cases have been reported in two case reports, and were both recovered, whereas, no data of follow up after recovery.
CONCLUSION
These cases indicate that COVID-19 patients with brucellosis had favorable outcome before and after recovery. More clinical studies should be conducted to confirm our findings.
Female
;
Humans
;
Male
;
Middle Aged
;
Brucellosis
;
COVID-19
;
Retrospective Studies
;
SARS-CoV-2
;
Treatment Outcome
;
Case Reports as Topic
6.Survey on the application of external cardiopulmonary resuscitation in Chinese children with sudden cardiac arrest.
Xue YANG ; Ye CHENG ; Xiao Yang HONG ; Yu Xiong GUO ; Xu WANG ; Yin Yu YANG ; Jian Ping CHU ; You Peng JIN ; Yi Bing CHENG ; Yu Cai ZHANG ; Guo Ping LU
Chinese Journal of Pediatrics 2023;61(11):1018-1023
Objectives: To investigate the current application status and implementation difficulties of extracorporeal cardiopulmonary resuscitation (ECPR) in children with sudden cardiac arrest. Methods: This cross-sectional survey was conducted in 35 hospitals. A Children's ECPR Information Questionnaire on the implementation status of ECPR technology (abbreviated as the questionnaire) was designed, to collect the data of 385 children treated with ECPR in the 35 hospitals. The survey extracted the information about development of ECPR, the maintenance of extracorporeal membrane oxygenation (ECMO) machine, the indication of ECPR, and the difficulties of implementation in China. These ECPR patients were grouped based on their age, the hospital location and level, to compare the survival rates after weaning and discharge. The statistical analysis used Chi-square test and one-way analysis of variance for the comparison between the groups, LSD method for post hoc testing, and Bonferroni method for pairwise comparison. Results: Of the 385 ECPR cases, 224 were males and 161 females. There were 185 (48.1%) survival cases after weaning and 157 (40.8%) after discharge. There were 324 children (84.2%) receiving ECPR for cardiac disease and 27 children (7.0%) for respiratory failure. The primary cause of death in ECPR patients was circulatory failure (82 cases, 35.9%), followed by brain failure (80 cases, 35.0%). The most common place of ECPR was intensive care unit (ICU) (278 cases, 72.2%); ECPR catheters were mostly inserted through incision (327 cases, 84.9%). There were 32 hospitals (91.4%) had established ECMO emergency teams, holding 125 ECMO machines in total. ECMO machines mainly located in ICU (89 pieces, 71.2%), and the majority of hospitals (32 units, 91.4%) did not have pre-charged loops. There were no statistically significant differences in the post-withdrawal and post-discharge survival rates of ECPR patients among different age groups, regions, and hospitals (all P>0.05). The top 5 difficulties in implementing ECPR in non-ICU environments were lack of ECMO machines (16 times), difficulty in placing CPR pipes (15 times), long time intervals between CPR and ECMO transfer (13 times), lack of conventional backup ECMO loops (10 times), and inability of ECMO emergency teams to quickly arrive at the site (5 times). Conclusion: ECPR has been gradually developed in the field of pediatric critical care in China, and needs to be further standardized. ECPR in non-ICU environment remains a challenge.
Child
;
Female
;
Humans
;
Male
;
Aftercare
;
Cardiopulmonary Resuscitation/methods*
;
Cross-Sectional Studies
;
Death, Sudden, Cardiac/prevention & control*
;
East Asian People
;
Heart Arrest/therapy*
;
Patient Discharge
;
Retrospective Studies
;
Surveys and Questionnaires
7.Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses.
Dan Dan TAN ; Yi Dan LIU ; Yan Bin FAN ; Cui Jie WEI ; Dan Yang SONG ; Hai Po YANG ; Hong PAN ; Wei Li CUI ; Shan Shan MAO ; Xiang Ping XU ; Xiao Li YU ; Bo CUI ; Hui XIONG
Chinese Journal of Pediatrics 2023;61(4):345-350
Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital were collected and analyzed retrospectively. Results: Among the 9 children, 6 were boys and 3 were girls. The age of last visit or follow-up was 5.0 (2.7,6.8) years. The main clinical manifestations included motor retardation, mental retardation, multiple malformations, and skeletal deformity. Cases 1-4 were all all boys, showed myopathic gait, poor running and jumping, and significantly increased level of serum creatine kinase. Disease-causing variations in Duchenne muscular dystrophy (DMD) gene were confirmed by genetic testing. The 4 children were diagnosed with DMD or Becker muscular dystrophy combined with a second genetic disease, including hypertrophic osteoarthropathy, spinal muscular atrophy, fragile X syndrome, and cerebral cavernous malformations type 3, respectively. Cases 5-9 were clinically and genetically diagnosed as COL9A1 gene-related multiple epiphyseal dysplasia type 6 combined with NF1 gene-related neurofibromatosis type 1, COL6A3 gene-related Bethlem myopathy with WNT1 gene-related osteogenesis imperfecta type XV, Turner syndrome (45, X0/46, XX chimera) with TH gene-related Segawa syndrome, Chromosome 22q11.2 microduplication syndrome with DYNC1H1 gene-related autosomal dominant lower extremity-predominant spinal muscular atrophy-1, and ANKRD11 gene-related KBG syndrome combined with IRF2BPL gene-related neurodevelopmental disorder with regression, abnormal movement, language loss and epilepsy. DMD was the most common, and there were 6 autosomal dominant diseases caused by de novo heterozygous pathogenic variations. Conclusions: Pediatric patients with coexistence of double genetic diagnoses show complex phenotypes. When the clinical manifestations and progression are not fully consistent with the diagnosed rare genetic disease, a second rare genetic disease should be considered, and autosomal dominant diseases caused by de novo heterozygous pathogenic variation should be paid attention to. Trio-based whole-exome sequencing combining a variety of molecular genetic tests would be helpful for precise diagnosis.
Humans
;
Abnormalities, Multiple
;
Retrospective Studies
;
Intellectual Disability/genetics*
;
Bone Diseases, Developmental/complications*
;
Tooth Abnormalities/complications*
;
Facies
;
Muscular Dystrophy, Duchenne/complications*
;
Muscular Atrophy, Spinal/complications*
;
Carrier Proteins
;
Nuclear Proteins
8.Postoperative changes of anterior chamber depth and lens suspensory ligament in patients with ultra-high myopia and cataract and related influencing factors
Ti XIONG ; Gang LIU ; Hong-Liang WANG ; Yi-Ping ZHAO
International Eye Science 2023;23(8):1274-1278
AIM:To investigate the changes of anterior chamber depth(ACD)and lens suspensory ligament after phacoemulsification and intraocular lens(IOL)implantation in patients with ultra-high myopia cataract and related influencing factors.METHODS: A total of 45 patients(60 eyes)with ultra-high myopia and cataract in our hospital from October 2016 to December 2022 were selected. All patients received phacoemulsification and IOL implantation. The patients were randomly divided into implantation group and non-implantation group. Implantation group was combined with capsular tension ring(CTR)implantation, and non-implantation group did not implant CTR during operation. The changes of ACD and lens suspensory ligament length before and after operation were compared and the correlation was analyzed. To observe the differences of ACD and the length of lens suspensory ligament between the two groups before and after operation.RESULTS: The ACD of patients with ultra-high myopia complicated with cataract at 1 and 3mo after operation was higher than that before operation(all P<0.05). The positions of 3:00, 6:00, 9:00, 12:00 and the average length of lens suspensory ligament at 1 and 3mo post-operation were shorter than those pre-operation(all P<0.05). There was no significant difference in the positions of 3:00, 6:00, 9:00, 12:00 and average length of suspensory ligament between 1mo and 3mo after operation(all P>0.05). The preoperative average length of lens suspensory ligament in patients with ultra-high myopia cataract was positively correlated with the ocular axis and the preoperative ACD(all P<0.05). There was no significant difference in ACD between the implantation group and the non-implantation before and at 1 and 3mo after operation(P>0.05). There was no significant difference in the length of lens suspensory ligament between implantation group and non-implantation group at the position of 6:00 before operation and 1mo after operation(P>0.05), but there was difference in lens suspensory ligament between groups at 3mo after operation and the position of 6:00(P<0.05). Furthermore, there was no significant difference at the positions of 3:00, 9:00, 12:00 and the average length of lens suspensory ligament between the implantation group and non-implantation group before and at 1 and 3mo after operation(P>0.05).CONCLUSION: The ACD deepen and lens suspensory ligament shortened in patients with ultra-high myopia and cataract after phacoemulsification; the length of lens suspensory ligament was affected by the combined use of CTR.
9.HIV-1 Transmission among Injecting Drug Users is Principally Derived from Local Circulating Strains in Guangxi, China.
Ping CEN ; Hua Yue LIANG ; Yuan YANG ; Fei ZHANG ; Shi Xiong YANG ; Ju Cong MO ; Yi FENG ; Jie Gang HUANG ; Chuan Yi NING ; Chun Yuan HUANG ; Yao YANG ; Na LIANG ; Bing Yu LIANG ; Li YE ; Hao LIANG
Biomedical and Environmental Sciences 2023;36(5):418-430
OBJECTIVE:
The mode of human immunodeficiency virus (HIV) transmission via injection drug use (IDU) still exists, and the recent shift in IDU-related transmission of HIV infection is largely unknown. The purpose of this study was to analyze the spatiotemporal sources and dynamics of HIV-1 transmission through IDU in Guangxi.
METHODS:
We performed a molecular epidemiological investigation of infections across Guangxi from 2009 to 2019. Phylogenetic and Bayesian time-geographic analyses of HIV-1 sequences were performed to confirm the characteristics of transmission between IDUs in combination with epidemiological data.
RESULTS:
Among the 535 subjects, CRF08_BC (57.4%), CRF01_AE (28.4%), and CRF07_BC (10.7%) were the top 3 HIV strains; 72.6% of infections were linked to other provinces in the transmission network; 93.6% of sequence-transmitted strains were locally endemic, with the rest coming from other provinces, predominantly Guangdong and Yunnan; 92.1% of the HIV transmission among people who inject drugs tended to be transmitted between HIV-positive IDUs.
CONCLUSION
HIV recombinants were high diversity, and circulating local strains were the transmission sources among IDUs in Guangxi. However, there were still cases of IDUs linked to other provinces. Coverage of traditional prevention strategies should be expanded, and inter-provincial collaboration between Guangxi, Yunnan, and Guangdong provinces should be strengthened.
Humans
;
HIV-1/genetics*
;
HIV Infections
;
Drug Users
;
Phylogeny
;
Bayes Theorem
;
China/epidemiology*
;
Genotype
10.Chemical constituents from Solanum muricatum and their antioxidant activities
Cheng WANG ; Yan-Ping WANG ; Yi XIONG ; Ping ZHU ; Gao-Xiong RAO
Chinese Traditional Patent Medicine 2023;45(12):3972-3979
AIM To study the chemical constituents from Solanum muricatum Ait.and their antioxidant activities.METHODS The 85%ethanol extract from S.muricatum was isolated and purified by silica gel,MCI,Sephadex LH-20,RP-C18,TLC,then the structures of obtained compounds were identified by physicochemical properties and spectral data.Their antioxidant activities were evaluated by DPPH free radical scavenging activity screening technology.RESULTS Twenty-five compounds were isolated and identified as caffeic acid(1),5-hydroxymaltol(2),4-methoxy-4-oxobutanoic acid(3),nicotinic acid(4),daucosterol(5),α-spinosterol-3-O-β-D-glucopyranoside(6),susaroyside A(7),ferulic acid(8),p-coumaric acid(9),methyl caffeate(10),ethyl caffeate(11),4,4-dimethylheptanedioic acid(12),calycosin(13),trans-4,4'-dihydroxystilbene(14),24-methylenecycloartanol(15),oleic acid(16),ethyl oleate(17),β-sitosterol(18),citrostadienol(19),pentacosane(20),β-sitosterol palmitate(21),(E)-4-[5-(hydroxymethyl)furan-2-yl]but-3-en-2-one(22),5,5'-oxybis(5-methylene-2-furaldehyde)(23),(E)-4-(5-(methoxymethyl)furan-2-yl)but-3-en-2-one(24),1,5-bis(5-methoxymethyl)furan-2-yl-penta-1,4-dien-3-one(25).The antioxidant capacity of 85%ethanol extract from S.muricatum was stronger than that of water extract.In the 85%ethanol extract from S.muricatum,the antioxidant capacities of each polar segment were 30%methanol,methanol,60%methanol,and water in turn.CONCLUSION Compounds 1-7 and 9-25 are isolated from this plant for the first time.The extracts of S.muricatum with different solvents and different polar segments have certain antioxidant activities.

Result Analysis
Print
Save
E-mail