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3例16p11.2微缺失综合征胎儿的产前诊断及其产前超声分析 被引量:3
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作者 姚妍怡 刘念 +6 位作者 李卉 王维鹏 张成成 高唐鑫子 徐淑琴 刘丽君 宋婕萍 《中国现代医学杂志》 CAS 2019年第19期33-38,共6页
目的分析3例16p11.2微缺失综合征胎儿的临床资料,探讨其产前诊断方法及宫内表型。方法回顾3例产前诊断为16p11.2微缺失(593 kb)胎儿的染色体核型分析、单核苷酸多态性微阵列(SNP微阵列)检测结果,分析这3例胎儿的产前超声特点。结果病例... 目的分析3例16p11.2微缺失综合征胎儿的临床资料,探讨其产前诊断方法及宫内表型。方法回顾3例产前诊断为16p11.2微缺失(593 kb)胎儿的染色体核型分析、单核苷酸多态性微阵列(SNP微阵列)检测结果,分析这3例胎儿的产前超声特点。结果病例1和病例2胎儿羊水染色体核型为46,XX,病例3胎儿羊水染色体核型为46,XY。病例1的SNP微阵列结果为arr[hg19]16p11.2(29,428,531~30,350,748)X1,即16p11.2存在922 kb的缺失。病例2的SNP微阵列结果为arr[hg19]16p11.2(29,591,326~30,176,508)X1,即16p11.2存在585 kb的缺失。病例3的SNP微阵列结果为arr[hg19]16p11.2(29,428,531~30,176,508)X1,即16p11.2存在748 kb的缺失。3例均有关键区域缺失,包含PRRT2、KCTD13、TBX6、HIRIP3、SEZ6L2等候选致病基因。病例1、2产前超声均提示胎儿半椎体畸形、脊柱侧弯,病例3产前超声提示胎儿颈部半透明膜增厚。结论 16p11.2微缺失综合征在产前可出现各个系统超声异常,但椎体畸形最为常见。中国汉族人群产前超声中如果出现胎儿半椎体畸形、脊柱侧弯,应考虑16p11.2微缺失综合征的可能。SNP微阵列分析可以有效地诊断16p11.2微缺失综合征,明确其断裂点以及所涉及的基因,有助于分析其基因型与表型的对应关系。 展开更多
关键词 畸形 严重的畸胎 16p11.2微缺失综合征 单核苷酸多态性微阵列
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Magnetic compression anastomosis for reconstruction of digestive tract after total gastrectomy in beagle model 被引量:2
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作者 Miao-Miao Zhang Chen-Guang Li +6 位作者 shu-qin xu Jian-Qi Mao Yu-Han Zhang Ai-Hua Shi Yan Li Yi Lyu Xiao-Peng Yan 《World Journal of Gastrointestinal Surgery》 SCIE 2023年第7期1294-1303,共10页
BACKGROUND Magnetic compression anastomosis(MCA)is a simple procedure contributing to a reliable anastomosis.However,digestive-tract reconstruction after total gastrectomy using MCA has not yet been reported.AIM To in... BACKGROUND Magnetic compression anastomosis(MCA)is a simple procedure contributing to a reliable anastomosis.However,digestive-tract reconstruction after total gastrectomy using MCA has not yet been reported.AIM To investigate the feasibility of MCA for simultaneous esophagojejunostomy and jejunojejunostomy after total gastrectomy using beagle dogs.METHODS Sixteen beagles were randomly divided into an MCA group(study group,n=8)and a manual-suture anastomosis group(control group,n=8).Two different magnetic anastomosis devices were used in the study group for esophagojejunal and jejunojejunal anastomoses.Both devices included a pair of circular daughter and parent magnets each.The time of esophagojejunostomy and jejunojejunostomy,postoperative complications,and survival rate of the two groups were compared.The dogs were sacrificed one month after the operation and their anastomotic specimens were obtained.Healing was observed by the naked eye and a light microscope.RESULTS Digestive-tract reconstruction after total gastrectomy was successfully completed in both groups(survival rate=100%).In the study group,esophagojejunal and jejunojejunal anastomoses took 6.13±0.58 and 4.06±0.42 min,respectively,significantly lower than those in the control group(15.63±1.53 min,P<0.001 and 10.31±1.07 min,P<0.001,respectively).Complications such as bleeding,anastomotic leakage,and anastomotic stenosis were not observed.In the study group,the magnets did not interfere with each other.Discharge time of the jejunojejunal magnetic anastomosis device was 10.75±1.28 d,while that of the esophagojejunal magnetic anastomosis device was 12.25±1.49 d.Residual silk was found in the control group.The study group showed a greater smoothness of the anastomosis than that of the control group.All layers of anastomosis healed well in both groups.CONCLUSION MCA is a safe and feasible procedure for digestive-tract reconstruction after total gastrectomy in this animal model. 展开更多
关键词 Magnetic surgery Magnetic compression anastomosis Gastric cancer Total gastrectomy Roux-en-Y esophagojejunal anastomosis Beagles
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Novel deformable self-assembled magnetic anastomosis ring for endoscopic treatment of colonic stenosis via natural orifice
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作者 Miao-Miao Zhang Guang-Bin Zhao +9 位作者 Han-Zhi Zhang shu-qin xu Ai-Hua Shi Jian-Qi Mao Jing-Ci Gai Yu-Han Zhang Jia Ma Yun Li Yi Lyu Xiao-Peng Yan 《World Journal of Gastroenterology》 SCIE CAS 2023年第33期5005-5013,共9页
BACKGROUND Although endoscope-assisted magnetic compression anastomosis has already been reported for colonic anastomosis,there is no report on a single-approach operation using the natural orifice.AIM To design a def... BACKGROUND Although endoscope-assisted magnetic compression anastomosis has already been reported for colonic anastomosis,there is no report on a single-approach operation using the natural orifice.AIM To design a deformable self-assembled magnetic anastomosis ring(DSAMAR)for colonic anastomosis for use in single-approach operation and evaluate its feasibility and safety through animal experiments.METHODS The animal model for colonic stenosis was prepared by partial colonic ligation in eight beagles.The magnetic compression anastomosis of their colonic stricture was performed by endoscopically assisted transanal implantation of the DSAMAR.The anastomotic specimen,obtained 2 wk after the operation,was observed by both the naked eye and a light microscope.RESULTS The DSAMAR was successfully inserted into the proximal end of colon stenosis through the anus.The DSAMAR of seven dogs was successfully transformed into rings,while that of the remaining dog was removed after the first deformation failed.The rings were successfully retransformed after optimization.All animals underwent colonic anastomosis using the DSAMAR.No device-related or procedure-related adverse events were observed.The colostomy specimens of the experimental dogs were obtained 2 wk after the operation.Both gross and histological observations showed good anastomotic healing.CONCLUSION The DSAMAR is a safe and feasible option for the treatment of colon stenosis.Its specific deformation and selfassembly capability maximize the applicability of the minimally invasive treatment. 展开更多
关键词 Magnetic surgery Magnamosis Colonic stenosis Natural orifice ENDOSCOPY
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Primary animal experiment to test the feasibility of a novel Y-Z magnetic hepatic portal blocking band
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作者 Miao-Miao Zhang Chen-Guang Li +7 位作者 shu-qin xu Jian-Qi Mao Yu-Xiang Ren Yu-Han Zhang Jia Ma Ai-Hua Shi Yi Lyu Xiao-Peng Yan 《World Journal of Gastrointestinal Surgery》 SCIE 2023年第7期1286-1293,共8页
BACKGROUND Hepatic portal blood flow occlusion is a common technique for reducing hepatic hemorrhage during hepatectomy.We designed a novel Y-Z magnetic hepatic portal blocking band(Y-Z MHPBB)based on the principle of... BACKGROUND Hepatic portal blood flow occlusion is a common technique for reducing hepatic hemorrhage during hepatectomy.We designed a novel Y-Z magnetic hepatic portal blocking band(Y-Z MHPBB)based on the principle of magnetic compression technique.AIM To introduce the Y-Z MHPBB device and verify the feasibility of this device for hepatic portal blood flow occlusion in dogs.METHODS Ten beagles were randomly divided into the experimental group and control group.The operation time,intraoperative blood loss,the number of portal blood flow occlusions,the total time spent on adjusting the blocking band,and the average time spent on adjusting the blocking band were recorded.The surgeons evaluated the feasibility and flexibility of the two portal occlusion devices.RESULTS Laparoscopic hepatectomy was successfully performed in both the experimental group and control group.There was no statistical difference between the two groups in the operation time,intraoperative blood loss,and the number of hepatic portal blood flow occlusions.With respect to the total time spent on adjusting the blocking band and the average time spent on adjusting the blocking band,the experimental group showed significantly better outcomes than the control group,with a statistical difference(P<0.05).The operators found that the Y-Z MHPBB was superior to the modified T-tube in terms of operational flexibility.CONCLUSION The Y-Z MHPBB seems to be an ingenious design,accurate blood flow occlusion effect,and good flexibility;and it can be used for hepatic portal blood flow occlusion during laparoscopic hepatectomy. 展开更多
关键词 Hepatic portal blood flow occlusion Laparoscopic hepatectomy Novel Y-Z magnetic hepatic portal blocking band Magnetic surgery Magnetic compression technique Beagles
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Magnetic anchor technique assisted endoscopic submucosal dissection for early esophageal cancer
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作者 Min Pan Miao-Miao Zhang +2 位作者 shu-qin xu Yi Lyu Xiao-Peng Yan 《World Journal of Gastrointestinal Endoscopy》 2023年第10期584-592,共9页
BACKGROUND Esophageal cancer has high incidence globally and is often diagnosed at an advanced stage.With the widespread application of endoscopic technologies,the need for early detection and diagnosis of esophageal ... BACKGROUND Esophageal cancer has high incidence globally and is often diagnosed at an advanced stage.With the widespread application of endoscopic technologies,the need for early detection and diagnosis of esophageal cancer has gradually been realized.Endoscopic submucosal dissection(ESD)has become the standard of care for managing early tumors of the esophagus,stomach,and colon.However,due to the steep learning curve,difficult operation,and technically demanding nature of the procedure,ESD has currently been committed to the development of various assistive technologies.AIM To explore the feasibility and applicability of magnetic anchor technique(MAT)-assisted ESD for early esophageal cancer.METHODS Isolated pig esophagi were used as the experimental model,and the magnetic anchor device was designed by us.The esophagi used were divided into two groups,namely the operational and control groups,and 10 endoscopists completed the procedure.The two groups were evaluated for the following aspects:The total operative time,perforation rate,rate of whole mucosal resection,diameter of the peering mucosa,and scores of endoscopists’feelings with the procedure,including the convenience,mucosal surface exposure degree,and tissue tension.In addition,in the operational group,the soft tissue clip and the target magnet(TM)were connected by a thin wire through a small hole at the tail end of the TM.Under gastroscopic guidance,the soft tissue clip was clamped to the edge of the lesioned mucosa,which was marked in advance.By changing the position of the anchor magnet(AM)outside the esophagus,the pulling force and pulling direction of the TM could be changed,thus exposing the mucosal peeling surface and assisting the ESD.RESULTS Herein,each of the two groups comprised 10 isolated esophageal putative mucosal lesions.The diameter of the peering mucosa did not significantly differ between the two groups(2.13±0.06 vs 2.15±0.06,P=0.882).The total operative time was shorter in the operational group than in the control group(17.04±0.22 min vs 21.94±0.23 min,P<0.001).During the entire experiment,the TM remained firmly connected with the soft tissue clip and did not affect the opening,closing,and release of the soft tissue clip.The interaction between the TM and AM could provide sufficient tissue tension and completely expose the mucosa,which greatly assists the surgeon with the operation.There was no avulsion of the mucosa,and mucosal lesions were intact when peeled.Therefore,the scores of endoscopists’feelings were higher in the operational group than in the control group in terms of the convenience(9.22±0.19 vs 8.34±0.15,P=0.002),mucosal surface exposure degree(9.11±0.15 vs 8.25±0.12,P<0.001),and tissue tension(9.35±0.13 vs 8.02±0.17,P<0.001).The two groups did not significantly differ in the perforation rate and rate of whole mucosal resection.CONCLUSION We found MAT-assisted ESD safe and feasible for early esophageal cancer.It could greatly improve the endoscopic operation experience and showed good clinical application prospects. 展开更多
关键词 Magnetic surgery Magnetic anchor technique Magnetic anchor device Endoscopic submucosal dissection Early esophageal cancer
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