1.Technical points of modular operation and standard procedure for three-port anterior mediastinal thymic disease surgery via subxiphoid approach: Experience of Tangdu Hospital
Jipeng ZHANG ; Yongan ZHOU ; Jinbo ZHAO ; Chenghui JIA ; Xinyao XU ; Guangyu XIANG ; Jiahe LI ; Qiang LU
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2024;31(12):1735-1742
Surgery is an important treatment for the anterior mediastinal disease. With the rapid development of minimally invasive techniques, complete resection of the lesion in most patients with thymic disease can be achieved through thoracoscopic surgery. Practice has proved that the three-port resection of anterior mediastinal thymus disease via the subxiphoid approach is an ideal surgical method for the treatment of anterior mediastinal thymic tumors at present, which has strong popularization and popularity and can benefit the patients. The procedure focuses primarily on the anterior and upper mediastinum and can thoroughly expose the anatomy of the mediastinum and both sides, with minimal intraoperative bleeding, high safety, minimal trauma and postoperative pain, and a short hospital stay. It has clear advantages over conventional thoracic open-heart surgery and transversal resection. However, the surgical approach and field of view, and intraoperative precautions of this procedure are completely different from those of previous thoracoscopic procedures, and from the subxiphoid single-port approach adopted by other centers. Based on 10 years of surgical experience at our center, a modular mode of surgical operation has been developed and its procedure has been standardized. This paper will share and discuss relevant operational points and experiences.
2.Sodium cyanide exacerbates hypoxia induced brain nerve damage in mice and its mechanism
Pengfei LI ; Huaxiang SHI ; Mengwei ZHOU ; Jiabin GUO ; Yongan WANG ; Liyun WANG
Chinese Journal of Pharmacology and Toxicology 2024;38(2):89-96
OBJECTIVE To investigate the effect and mechanism of acute exposure to sodium cyanide(NaCN)on brain nerve damage induced by closed hypoxia in mice.METHODS ① Mice were randomly divided into hypoxia+NaCN 0(hypoxia control group),2.56,3.8,and 5.1 mg·kg-1 groups.After ip adminis-tration of different concentrations of NaCN,the mice were immediately placed into a closed hypoxic tank and the hypoxia survival time was observed.②Mice were divided into normal control,NaCN 3.8 mg·kg-1,hypoxia(30 and 60 min)and NaCN 3.8 mg·kg-1+hypoxia(30 and 60 min)groups.After grouping,the pH,oxygen saturation(sO2),oxygen tension(pO2)and carbon dioxide partial pressure(pCO2)of arterial blood of mice were detected using an arterial blood gas analyzer.The cortical cerebral blood flow of mice was detected using a laser speckle imager.The dry and wet brain tissue were weighed separately,and the brain moisture content was calculated.The kit was used to detect the activity of total superoxide dismutase(T-SOD)and the content of malondialdehyde(MDA)in the hippocampus.TUNEL staining was used to detect the apoptosis rate of cells in the hippocampus.HE staining was used to detect path-ological changes in the hippocampus.RESULTS ①Compared with the hypoxic control group,the sur-vival time of mice in the hypoxic+NaCN groups was significantly prolonged(P<0.01).②Compared with the normal control group,the hypoxia 30 min group showed upregulation of arterial blood p CO2(P<0.05),downregulation of p O2(P<0.05).The hypoxia 60 min group showed upregulation of arterial blood p CO2(P<0.05)and downregulation of cortical cerebral blood flow(P<0.05).In the NaCN 3.8 mg·kg-1 group,arterial blood p O2 and s O2 were significantly downregulated(P<0.05),so was cortical cerebral blood flow(P<0.01),but MDA content and T-SOD activity were significantly upregulated(P<0.01),and the brain moisture content was increased(P<0.01).Compared with the hypoxia 30 min group,s O2 and p O2 of arterial blood in the NaCN+hypoxia 30 min group were significantly upregulated(P<0.05),while p CO2 was significantly downregulated(P<0.05).Compared with the hypoxia group at corresponding time points,the NaCN+hypoxia 30 or 60 min groups showed significant downregulation of cerebral blood flow(P<0.01),significant upregulation of MDA content and T-SOD activity(P<0.01),and signifi-cant upregulation of brain moisture content(P<0.01).HE staining results showed that the NaCN 3.8 mg·kg-1 group and the NaCN+hypoxia group(30 or 60 min)showed significant cell swelling and vacuolization in cells in the hippocampal tissue,a decrease in the number of neurons,nuclear pyknosis and deep staining.TUNEL fluorescence results showed that the NaCN 3.8 mg·kg-1 group significantly increased the apop-tosis rate of the mouse hippocampus compared with the normal control group(P<0.05).The NaCN+ hypoxia 30 and 60 min groups significantly increased the apoptosis rate of the mouse hippocampus compared with the hypoxia group at corresponding time points(P<0.05).CONCLUSION NaCN can exacerbate hypoxia induced decrease in cerebral blood flow,oxidative stress in brain tissue,and neuro-nal apoptosis in mice,thereby reducing oxygen consumption in closed hypoxic tanks and prolonging their survival time.The mechanism is related to reduced utility of cell oxygen,delaying CO2 accumulation and increasing free oxygen in vivo.
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.Comparative study on the efficacy of Moses holmium laser versus traditional holmium laser in the treatment of renal calculi under flexible ureteroscopic lithotripsy
Chao GAO ; Yongan YANG ; Tao MA ; Wenzeng YANG ; Feng AN ; Zhenyu CUI ; Hongyue ZHOU ; Yu LI ; Weidong YANG
Chinese Journal of Urology 2024;45(3):195-201
Objective:To compare the effectiveness of the Moses holmium laser and the traditional holmium laser in the treatment of kidney stones using flexible ureteroscopy.Methods:The data of 425 patients with kidney stones treated with flexible ureteroscopic holmium laser lithotripsy at Hebei University Affiliated Hospital from January 2017 to January 2023 were retrospectively analysed. Among them, 136 cases were treated with traditional holmium laser (traditional group), and 289 cases were treated with Moses holmium laser (Moses group). To minimize selection bias due to non-random allocation, 1∶1 propensity score matching (PSM) was employed, ensuring comparability between the two groups in baseline characteristics (age, gender) and stone characteristics (stone location, number, diameter, CT value, and stone composition). The differences in operation time, laser action time, stone clearance rate (SFR), postoperative complications and secondary treatment rate were compared between the two groups after matching. The risk factors affecting SFR were analyzed by multivariate logistic regression. The efficacy of Moses group and traditional group in treating kidney stones with diameter ≥20 mm was also compared.Results:After PSM, 108 patients were selected from each group for data analysis. Traditional group and Moses group demonstrated good consistency in baseline characteristics, including age [57.0(49.0, 65.0) years old vs. 58.5(51.8, 66.0) years old], male gender [58.3% (63/108) vs. 60.2% (65/108)], stone location(upper calyx / mid calyx / lower calyx / pelvis: 33/35/38/42 cases vs. 35/33/40/42 cases), multiple stones [33.3% (36/108) vs. 35.2% (38/108)], diameter [14.0(11.0, 16.0)mm vs. 14.0(12.0, 17.0)mm], CT value [1 115.5(993.2, 1 228.2) HU vs. 1 114.5(1 000.2, 1 216.5) HU], and the presence of calcium stones [83.3% (90/108) vs. 79.6% (86/108)], and all showing absolute standardized mean difference(ASMD) <0.1. The Moses group had shorter operation time [48.5(36.0, 56.0)min vs. 60.0(48.8, 68.0)min, P<0.01], higher post-operative stone-free rate (SFR) [88.9%(96/108) vs. 67.6(73/108), P<0.01], and lower rate of secondary surgery [1.8%(2/108) vs. 9.3%(10/108), P=0.04], indicating advantages in surgical efficiency and post-operative outcomes. Multivariable logistic regression analysis revealed that using Moses holmium laser ( OR=0.029, P<0.01), stone diameter ( OR=1.492, P<0.01), stone CT value ( OR=1.007, P<0.01), presence of calcium stones ( OR=1.551, P<0.01), holmium laser application time ( OR=0.863, P<0.01), preoperative placement of a double-J stent ( OR=0.193, P<0.01), and preoperative moderate to severe hydronephrosis ( OR=1.651, P<0.01) were significant factors affecting SFR. In treating stones with a diameter of 20-30 mm, the surgery time of Moses group was shorter than that of traditional group [50.5(43.8, 58.3)min vs. 72.0(68.0, 78.0)min, P<0.05], and the laser application time of Moses group was also shorter [29.5(22.8, 36.0)min vs. 36.0(32.0, 41.0)min, P<0.05]. The post-operative SFR of Moses group was higher than that of traditional group [65.6%(42/64) vs. 35.3%(6/17), P<0.05], and the rate of secondary surgery was lower[7.8%(5/64) vs. 29.4(5/17), P<0.05]. Conclusions:Flexible ureteroscopy combined with Moses holmium laser lithotripsy demonstrated significant advantages over traditional holmium laser in enhancing stone clearance rate, reducing operation time, and lowering the need for secondary surgeries in the treatment of kidney stones. Flexible ureteroscopy combined with Moses holmium laser lithotripsy also proves its efficacy and clinical value in managing complex kidney stone cases.
5.Effects of transxiphoid enlarged thymus resection on inflammatory factors,T lymphocyte subsets and stress response in thymoma patients
Zheng FENG ; Yongan ZHOU ; Tianyi ZHANG ; Shaoyi CHENG ; Xunliang YIN
Journal of Clinical Surgery 2024;32(8):826-829
Objective To analyze the effects of extended subxiphoid thymus resection on inflammatory factors,T lymphocyte subsets and stress response in thymoma patients.Methods The clinical data of 118 patients with thymoma admitted to our hospital from May 2021 to May 2023 were retrospectively analyzed,of which 61 patients underwent subxiphoid enlargement thymectomy(recorded as the study group)and 57 patients underwent lateral thoracotomy enlargement thymectomy(recorded as the control group).The postoperative and perioperative pain,stress response,inflammatory response,T lymphocyte subsets and complications were compared between the two groups.Results There was no significant difference in operation time,intraoperative blood loss and postoperative drainage volume between the two groups(P>0.05).The visual analogue scale(VAS)of the study group(3.21±0.47,2.47±0.34 points)was lower than that of the control group(3.62±0.53,2.61±0.39 points)at 24 h and 48 h after surgery(P<0.05).The levels of adrenaline(Adr)and cortisol(Cor)48 h after operation were higher than those before operation(P<0.05).The levels of Adr and Cor[(101.94±12.83)ng/L,(276.84±31.05)nmol/L]in the study group were lower than those in the control group[(108.15±14.72)ng/L,(308.91±35.24)nmol/L]48 hours after operation(P<0.05).The levels of TNF-α and IL-6 48 h after surgery were higher than those before surgery(P<0.05).The levels of tumor necrosis factor a(TNF-α)and interleukin-6(IL-6)in the study group[(40.91±6.93)pg/ml,(55.62±8.67)pg/ml]48 h after surgery were lower than those in the control group[(45.85±8.12)pg/ml,(61.98±10.51)pg/ml](P<0.05).The levels of Thl/Th2 and Th17/Treg in both groups 48 h after surgery were lower than those before surgery(P<0.05).The levels of Th1/Th2 and Th17/Treg in the study group(4.75±0.74,0.95±0.17)were lower than those in the control group(5.16±0.89,1.06±0.19)48 h after surgery(P<0.05).The changes of Th1/Th2 and Th17/Treg in two groups were different(P<0.05).Conclusion Compared with lateral thoracotomy,transxiphoid enlargement of thymus can reduce perioperative pain,inhibit perioperative inflammatory response and stress response,improve T lymphocyte subpopulation,and is safe and reliable.
6.Analysis on risk factors for early trauma-induced coagulopathy in the elderly patients with severe trauma
Jiaqi ZHOU ; Yufeng HU ; Yangbo KANG ; Jiasheng SHEN ; Yuchen JIN ; Qi YANG ; Yongan XU
Chinese Journal of Trauma 2022;38(1):61-66
Objective:To explore the risk factors for early trauma-induced coagulopathy (TIC) following severe trauma in the elderly patients.Methods:A case-control study was used to analyze the clinical data of 317 elderly patients with severe trauma admitted to Second Affiliated Hospital of Zhejiang University School of Medicine between February 2015 and November 2020. There were 212 males and 105 females, aged 65-96 years [(72.6±6.8)years]. The patients were divided into TIC group ( n=32) and non-TIC group ( n=285) using the international normalised ratio (INR)>1.5 as the reference standard. Sex, age, trauma sites, injury severity score (ISS), Glasgow coma scale (GCS), first body temperature on admission, shock index(SI), first laboratory results of arterial blood gas, routine blood and coagulation, blood transfusion, usage of blood product, hospitalization days and clinical outcomes were compared between the two groups. Univariate and multivariate Logistic regression analysis were used to identify the risk factors for early TIC in patients with severe trauma. Results:Differences in sex, age, injuries to the face, chest and abdomen, GCS, first body temperature and hospitalization days were not statistically significant between the two groups (all P>0.05). The two groups showed statistical differences in the ratio of injuries to head, neck and extremities, ISS, SI, pH value, base excess (BE), lactate, hemoglobin (Hb), platelet (PLT) count (first detection, lowest level), activated partial thromboplastin time (APTT), thrombin time (TT), plasma fibrinogen (FIB), blood transfusion and usage of blood product and clinical outcomes (all P<0.05). According to the univariate analysis, injuries to the head, neck and extremities, ISS, first body temperature, SI, pH value, BE, lactate, Hb, PLT, APTT, TT and FIB were correlated with the occurrence of early TIC (all P<0.05). Multiple Logistic regressions analysis showed that SI ( OR=1.54, 95% CI 1.10-2.17, P<0.05), PLT ( OR=0.67, 95% CI 0.49-0.91, P<0.05) and FIB ( OR=0.56, 95% CI 0.40-0.78, P<0.01) were significantly correlated with the occurrence of early TIC. Conclusion:For elderly patients with severe trauma, higher SI, lower PLT count and lower concentration of FIB are independent risk factors for the incidence of early TIC.
7.Application and effect of microlecture in the clinical teaching of thoracic surgery
Feng TIAN ; Haiqiang WANG ; Yongan ZHOU ; Zhengwei ZHAO ; Jie LEI ; Tao JIANG
Chinese Journal of Medical Education Research 2022;21(10):1346-1349
Traditional thoracic surgery teaching has many problems, such as limited classroom teaching time allocation, many diseases and difficult to fully cover classroom teaching, uneven practical teaching level, and difficulty in updating "big textbooks". The Department of Thoracic Surgery of The Second Affiliated Hospital of Air Force Medical University has gradually applied microlecture to all levels of thoracic surgery teaching, such as undergraduate auxiliary classroom teaching and clinical skills training, grassroots and refresher doctor training, postgraduate education, etc., and has achieved good results of teaching effect.
8.Subxiphoid and subcostal arch thoracoscopic versus unilateral thoracoscopic thymectomy for the treatment of thymic abnormalities with myasthenia gravis: A propensity-score matching study
Xunliang YIN ; Sha XUE ; Zhengwei ZHAO ; Shaoyi CHENG ; Zheng FENG ; Yize GUO ; Tianyi ZHANG ; Jing ZHANG ; Yongan ZHOU
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2021;28(04):473-478
Objective To compare clinical effects of extended thymectomy for the treatment of thymic abnormalities with myasthenia gravis (MG) between subxiphoid and subcostal arch thoracoscopic resection (SR) and the unilateral thoracoscopic resection (UR) by a propensity-score matching analysis. Methods We retrospectively analyzed the clinical data of 612 patients who presented with MG and were admitted to Tangdu Hospital of Air Force Military Medical University between December 2011 and December 2018. Of these patients, 520 patients underwent subxiphoid and subcostal arch thoracoscopic extended thymectomy (a SR group) and 92 unilateral thoracoscopic extended thymectomy (a UR group). Ninety-two patients in the SR group were matched with the UR group by propensity-score matching analysis. There were 52 males and 40 females with an average age of 26-70 (50.2±10.3) years in the SR group, and 47 males and 45 females with an average age of 20-73 (51.5±12.1) years in the UR group. The operation time, intraoperative blood loss, thoracic drainage time, postoperative hospital stay, thorough adipose tissue removal, postoperative remission of MG, patients’ satisfaction score, pain and complications were compared and analyzed between the two groups. Results All operations were accomplished successfully, without conversion to thoracotomy of the two groups. There were statistical differences between the two groups in operation time (46.2±19.5 min vs. 53.4±23.5 min), chest drainage duration (0 d vs. 3.4±1.2 d), hospital stay (2.9±1.9 d vs. 3.6±1.7 d), patients’ satisfaction score (7.9±2.1 points vs. 6.7±1.2 points) and pain scores (all P<0.05). There were no statistical differences between the two groups in intraoperative blood loss (52.2±12.7 mL vs. 51.2±10.3 mL), peripheral adipose tissue removal (8.1±0.6 vs. 7.9±0.9), remission rate of MG (89.1% vs. 85.9%) and rate of postoperative complications (10.9% vs. 6.5%) (all P>0.05). Conclusion Subxiphoid and subcostal arch thoracoscopic extended thymectomy is a safe and feasible minimally invasive procedure for the management of MG with thymic abnormalities.
9.Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family.
Jinghe CAO ; Jianwei LI ; Yuqin ZHANG ; Huanfu NIU ; Yongan ZHOU ; Zhe LI ; Baogang SUN ; Zewu LI
Chinese Journal of Medical Genetics 2021;38(8):765-767
OBJECTIVE:
To explore the genetic basis for a case of Lamb-Shaffer syndrome.
METHODS:
Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing(WES). Suspected variant was verified by Sanger sequencing.
RESULTS:
The patients was found to harbor a heterozygous c.1495delA(p.Thr499Glnfs*5) frameshift variant of the SOX5 gene by WES. Sanger sequencing confirmed that the same variant was a de novo variant. Based on the American College of Medical Genetics and Genomics guidelines, c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene was predicted to be pathogenic (PVS1+PS2+PM2).
CONCLUSION
The c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene probably underlies the Lamb-Shaffer syndrome in this patient.
Animals
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Genomics
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Heterozygote
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Humans
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Mutation
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SOXD Transcription Factors/genetics*
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Sheep
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Whole Exome Sequencing
10.Analysis of gene variant in a Chinese pedigree with preaxial polydactyly.
Zhe LI ; Yongan ZHOU ; Jianwei LI ; Junmei GENG ; Xingxing LI ; Yuan BAI ; Yaxin HAN ; Jianping CHENG ; Yanhong QIN ; Ruirui REN
Chinese Journal of Medical Genetics 2021;38(11):1106-1109
OBJECTIVE:
To analyze the pathogenic variant of preaxial polydactyly in a Chinese Han pedigree and identify the cause of polydactyly.
METHODS:
The peripheral blood DNA of the proband and her parents was extracted. The polydactyly-related genes were detected by trio whole exome sequencing, and the suspected pathogenic gene was screened out. Sanger sequencing was applied to other members of the pedigree.
RESULTS:
The results of gene sequencing showed that the LMBR1 gene had a heterozygous variant of c.423+4909(IVS5)C>T in 6 patients of the pedigree. The same variant was not detected in family members with normal phenotype. Based on the ACMG guidelines, c.423+4909(IVS5)C>T of the LMBR1 gene was predicted to be pathogenic (PM1+PM2+PP1-S(PS)+PP4+PP5).
CONCLUSION
The heterozygous C>T variant at position 4909 of intron 5 of the LMBR1 gene probably underlies the disease in this pedigree.
China
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Female
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Humans
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Mutation
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Pedigree
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Polydactyly/genetics*
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Thumb
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Whole Exome Sequencing

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