1.Value of nomogram based on dual-layer detector spectral CT quantitative parameters and conventional CT features for evaluating high-grade pattern of pulmonary invasive non-mucinous adenocarcinoma
Rong HONG ; Xiaoxia PING ; Su HU ; Xing XIONG ; Yang YU ; Chunhong HU
Chinese Journal of Radiology 2024;58(2):187-193
Objective:To explore the value of nomogram based on dual-layer detector spectral CT quantitative parameters and conventional CT feature in evaluating high-grade pattern (HGP) of pulmonary invasive non-mucinous adenocarcinoma.Methods:This study was a case-control study. A total of 71 patients with pathologically confirmed pulmonary invasive non-mucinous adenocarcinoma in the First Affiliated Hospital of Soochow University from February 2022 to May 2023 were retrospectively enrolled, which were divided into HGP and non-HGP groups according to pathological results. Conventional CT features were analyzed, including size, shape, density, internal signs, margins, and pleural retraction. The iodine concentration (IC), electron density (ED), and normalized iodine concentration (NIC) of the lesions in both the arterial phase (AP) and venous phase (VP) were measured. Differences between the two groups were analyzed using independent sample t-test, Mann-Whitney U test, or χ2 test. Multivariate logistic regression analysis was used to select the independent influencing factors of HGP in pulmonary invasive non-mucinous adenocarcinoma, and the conventional CT feature model, the spectral CT quantitative parameter model, and the combined model were constructed and expressed in a nomogram. The area under the curve (AUC) of receiver operating characteristic curve was used to assess the performance of each model, and was compared by DeLong test. Decision curves (DCA) was used to assess the clinical net benefit of the models. Results:There were significant differences between HGP group and non-HGP group in terms of density, lobulation, spiculation, IC AP, IC VP, NIC AP, ED AP and ED VP (all P<0.05). The multivariate logistic regression analysis showed that the solid nodule ( OR=15.452, 95% CI 4.246-56.235, P<0.001), lobulation ( OR=7.069, 95% CI 1.618-30.883, P=0.009), ED AP( OR=1.183, 95% CI 1.064-1.315, P=0.002) and IC VP ( OR=0.231, 95% CI 0.072-0.744, P=0.014) were independent influencing factors for predicting HGP in pulmonary invasive non-mucinous adenocarcinoma. The AUC of the conventional CT feature model, spectral CT quantitative parameter model, and the combined model were 0.835, 0.890, and 0.915, respectively. The AUC of the combined model was better than that of the conventional CT feature model ( Z=2.67, P=0.008). The DCA analysis demonstrated that the nomogram had higher clinical net benefit than the conventional CT feature model. Conclusions:The nomogram based on the quantitative parameters of dual-layer detector spectral CT and conventional CT features have favorable diagnostic efficacy in predicting HGP in pulmonary invasive non-mucinous adenocarcinoma, and can be used as a reliable tool for non-invasive diagnosis of HGP before surgery.
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
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Male
;
Female
;
Spondylolisthesis/surgery*
;
Middle Aged
;
Spinal Fusion/methods*
;
Lumbar Vertebrae/surgery*
;
Aged
;
Adult
;
Retrospective Studies
;
Endoscopy/methods*
4.Acupuncture for prevention of moderate to severe seasonal allergic rhinitis: a randomized controlled trial.
Ting-Ting SONG ; Xiang-Hong JING ; Wei GUO ; Guan-Xiong HAN ; Shuo DU ; Ji-Ping ZHAO
Chinese Acupuncture & Moxibustion 2023;43(2):123-127
OBJECTIVE:
To observe the clinical efficacy of acupuncture for prevention of moderate to severe seasonal allergic rhinitis.
METHODS:
A total of 105 patients with moderate to severe seasonal allergic rhinitis were randomly divided into an observation group (53 cases, 3 cases dropped off) and a control group (52 cases, 4 cases dropped off). The patients in the observation group were treated with acupuncture at Yintang (GV 24+), Yingxiang (LI 20), Hegu (LI 4), Zusanli (ST 36), Fengchi (GB 20), Feishu (BL 13), etc. 4 weeks before the seizure period, once every other day, 3 times a week for 4 weeks. The patients in the control group were not given any intervention before the seizure period. Emergency drugs can be given appropriately during the seizure period in both groups. After seizure period, the seizure rate was recorded in the two groups; before treatment and on week 1, 2, 4, 6 of seizure period after treatment, the rhinoconjunctivitis quality of life questionnaire (RQLQ) score and total nasal symptom score (TNSS) were observed in the two groups; the rescue medication score (RMS) was recorded on week 1-6 of seizure period in the two groups.
RESULTS:
The seizure rate of the observation group was 84.0% (42/50), which was lower than 100.0% (48/48) in the control group (P<0.05). After treatment, the scores of RQLQ and TNSS at each time point of seizure period were decreased compared with before treatment in the observation group (P<0.01), which were lower than the control group (P<0.01). The RMS score at each time point of seizure period in the observation group was lower than the control group (P<0.05, P<0.01).
CONCLUSION
Acupuncture can reduce the incidence of moderate to severe seasonal allergic rhinitis, relieve the symptoms, improve the quality of life and reduce the use of emergency drugs.
Humans
;
Rhinitis, Allergic, Seasonal
;
Rhinitis, Allergic/therapy*
;
Quality of Life
;
Acupuncture Therapy
;
Acupuncture Points
;
Treatment Outcome
;
Seizures
5.Chemical constituents from fruits of Morinda citrifolia and their inhibitory effects on proliferation of synoviocytes in vitro.
Zhang-Yang SHEN ; Ruo-Qing GUAN ; Meng-Ran DU ; Yuan BIAN ; Yu WANG ; Xin-Yuan SUO ; Shu-Hong XIONG ; Yan-Ping LIU ; Yan-Hui FU
China Journal of Chinese Materia Medica 2023;48(1):105-113
The chemical constituents from the fruits of Morinda citrifolia were systematically explored by chromatographic fractionation methods including silica gel, octadecylsilyl(ODS) gel, Sephadex LH-20 gel, and preparative high performance liquid chromatography(pre-HPLC). The chemical structures of all isolated compounds were identified on the basis of their physicochemical properties, spectroscopic analyses, as well as the comparisons of their physicochemical and spectroscopic data with the reported data in literature. As a result, 22 isolated compounds from the 90% ethanol extract of the fruits of M. citrifolia were identified, which were moricitritone(1), 2'-deoxythymidine(2), cyclo-(L-Pro-L-Tyr)(3), methyl-5-hydroxy-2-pyridinecarboxylate(4), methyl pyroglutamate(5), bisbenzopyran(6), epipinoresinol(7), 3, 3'-bisdemethyl pinoresinol(8), 3, 3'-bisdemethyltanegool(9), trimesic acid(10), crypticin B(11), kojic acid(12), vanillic acid(13), protocatechoic acid(14), 5-hydroxymethyl furfural(15), blumenol A(16), 1-O-(9Z, 12Z-octadecadienoyl) glycerol(17), mucic acid dimethylester(18), methyl 2-O-β-D-glucopyranosylbenzoate(19), 2-phenylethyl-O-β-D-glucoside(20), scopoletin(21), and quercetin(22). Among them, compound 1 was a new pyrone derivative, compounds 2, 4-7, 10-12, and 17 were isolated from the plants belonging to Morinda genus for the first time, and compound 18 was obtained from M. citrifolia for the first time. Moreover, on the basis of testing the activities of all isolated compounds on inhibiting the proliferation of synovial fibroblasts in vitro by MTS assay, the anti-rheumatoid arthritis activities of all isolated compounds were initially evaluated. The results showed that compounds 1-6, 9, 19, and 20 exhibited remarkable anti-rheumatoid arthritis activities, which displayed the inhibitory effects on the proliferation of MH7A synovial fibroblast cells with the IC_(50) values in the range of(3.69±0.08) to(168.96±0.98) μmol·L~(-1).
Fruit/chemistry*
;
Morinda/chemistry*
;
Synoviocytes
;
Cell Proliferation
;
Arthritis
6.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.
7.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
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Female
;
Humans
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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
8. Eplerenone protects contralateral kidney tissue from obstruction in pregnant rats with chronic kidney disease
Chang XU ; Wen-Ping ZHOU ; Jie-Qi NIU ; Hong-Shuang WANG ; Meng-Juan ZHANG ; Jia-Zhi LIU ; Chang XU ; Qing-You XU ; Wen-Ping ZHOU ; Jie-Qi NIU ; Yun-Zhao XIONG ; Yan ZHONG ; Zheng WANG ; Qing-You XU ; Yun-Zhao XIONG ; Yan ZHONG ; Xiang-Ting WANG ; Zheng WANG ; Hong-Shuang WANG ; Meng-Juan ZHANG ; Jia-Zhi LIU
Chinese Pharmacological Bulletin 2023;39(8):1534-1540
Aim To study the protective effect of eplerenone on the contralateral kidney in pregnant rats with chronic kidney disease (CKD) and its mechanism. Methods Female Wistar rats were randomly divided into sham-operation group, sham-operation pregnancy group, model group and eplerenone group. The rats in the model group and eplenone group had ligation unilateral ureter, and the rats in the eplenone group were treated with 100 mg • kg
9.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
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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
10.Consideration on the construction of acupuncture and moxibustion clinical diagnosis and treatment system with the core of "differentiation of disease location": taking "treatment" of Science of Acupuncture and Moxibustion as an example.
Hong-Fang TIAN ; De-Xiong HAN ; Jing LIU ; Yang LI ; Shan-Ze WANG ; Ji-Ping ZHAO
Chinese Acupuncture & Moxibustion 2022;42(3):345-349
Based on the difference between disease and syndrome differentiation of acupuncture and moxibustion and each department of TCM, i.e. internal medicine, external medicine, gynecology and pediatrics, it is believed that "differentiation of disease location" is the key of disease and syndrome differentiation of acupuncture and moxibustion. According to the disease location, in the section "treatment" of Science of Acupuncture and Moxibustion, the disorders/illness are classified as zangfu disorder, disorders of limbs and meridians, dermatological disorder, ophthalmological and otorhinolaryngological disorder, gynecological disorder, as well as qi, blood and body fluid disorder. Besides, the rules of disease and syndrome differentiation, as well as treatment characteristics of each category are explained separately. It is considered that the clinical diagnosis and treatment system of acupuncture and moxibustion should be constructed by focusing on "differentiation of disease location".
Acupuncture
;
Acupuncture Therapy
;
Child
;
Humans
;
Meridians
;
Moxibustion
;
Syndrome

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