Objective:To analyze the genetic test results and ultrasonographic markers of 41 fetuses with short femurs and their relationship.Methods:This study retrospectively analyzed 41 fetuses who were diagnosed with short femurs by ultrasound during 19-37 gestational weeks and underwent prenatal genetic examination at the First Affiliated Hospital of Zhengzhou University from January 2018 to June 2019. According to the results of genetic examination, these cases were divided into three groups after excluding three cases of variants of unknown significance: genetically normal group, chromosome variation (including chromosomal aneuploidy and pathogenic or likely pathogenic copy number variations) group, and gene mutation (including pathogenic or likely pathogenic gene mutations) group. According to the head circumference (HC), abdominal circumference (AC) and femur length (FL), Z FL, FL/HC, FL/AC, ΔZ H-F and ΔZ H+A-2F for each fetus were calculated. One-way ANOVA and LSD- t test were used for statistical analysis. Results:(1) Among the 41 fetuses with short femurs, there were 28 in the genetically normal group, five in the chromosome variation group, three with chromosome variations of unknown significance and five in the gene mutation group. (2) In the genetically normal, chromosome variation and gene mutation groups, Z FL values were -2.78±0.77, -4.36±0.69 and -4.69±0.70; FL/HC ratios were 0.178±0.011, 0.170±0.010 and 0.131±0.022; FL/AC ratios were 0.197±0.013, 0.186±0.011 and 0.151±0.017; ΔZ H-F values were 2.49±1.09, 3.53±1.28 and 8.17±1.30; ΔZ H+A-2F values were 4.44±2.00, 6.78±2.20 and 14.28±1.26, respectively. The differences in Z FL values between the genetically normal group and the chromosome variation group as well as the gene mutation group were statistically significant (both P<0.05); so were the differences in FL/HC, FL/AC and ΔZ H-F values between the gene mutation group and the genetically normal group as well as the chromosome variation group (all P<0.05) and in any pairwise comparison of ΔZ H+A-2F among the three groups (all P<0.05). Conclusions:The genetic etiology of fetal short femurs is mainly related to chromosomal variations (including chromosomal aneuploidy and pathogenic or likely pathogenic copy number variations) and gene mutation. In fetuses with chromosome variation and gene mutation, the degree of the femoral development delay relative to the development of HC and AC is worse than that in the normal genetic results group.

Objective To investigate the effects of different clipping time of first time using permanent aneurysm clips on common carotid artery wall in rabbitsMethods Sixty healthy male Japanese white rabbits were selected.The first time permanent aneurysm clips were used to clip common carotid artery for 30 min or 60 min respectively according to the random number method (n=30 in each group).Thirty segments of common carotid artery specimens clipped by aneurysm clips were collected respectively.Mean-Whitney U test was used to conduct the comparison of histopathological damage grade of vascular wall.Results The aneurysm clips were use to clip 30 min and 60 min caused vascular wall injury could observe the middle elastic plastic plate deformation and endothelial denudation.The vascular walls in the clipping 60 min group had local necrosis with inflammatory response,and even rupture of vascular wall.There were significant differences in overall damage degree of vascular wall (U=324.00,P=0.045) and severe injury rate (0%[0/30] vs.20.0%[6/30],P=0.031) between the clipping 30 min group and the clipping 60 min group (all P<0.05).Conclusion The vascular wall injury of using disposable permanent aneurysm clips for clipping 60 min was more severe than 30 min.Attention should be paid to shortening the time of carotid artery occlusion in operation.

Objective: To analyze the safety and efficacy of intravenous thrombolysis(IVT) combined with emergency carotid artery stenting (eCAS) in acute ischemic stroke (AIS) patients with anterior circulation tandem occlusion and treated with mechanical thrombectomy. Methods: From January 2014 to September 2018, a total of 124 consecutive patients diagnosed with AIS with anterior circulation tandem occlusion and treated with mechanical thrombectomy were retrospectively enrolled from Department of Neurology in 5 comprehensive stroke centers. Patients were divided into 4groups according to IVT and eCAS:group A was without IVT and eCAS; group B was eCAS without IVT; group C was IVT without eCAS; group D was IVT combined with eCAS. Baseline and clinical characteristics were documented and compared among the 4 groups. Baseline characteristics included age, gender, risk factors for stroke, good collateral circulation ratio, National Institutes of Health Stroke Scale(NIHSS) score and Alberta stroke program early CT(ASPECT) score, etc. Clinical characteristics included occlusion site of intracranial artery, the degree of extracranial stenosis, etiology of extracranial stenosis, surgical strategy, femoral artery puncture to recanalization time (PTR).medication during hospitalization, etc. The safety and clinical outcomes of the 4 groups were evaluated, including recanalization, symptomatic intracranial hemorrhage, and prognosis. The modified thrombolysis in cerebral infarction score(mTICI) 2b or 3 was considered as successful recanalization. The modified Rankin scale (MRS) score 0-2 at 90 days was considered as favorable functional outcome and MRS score 0-1 was excellent functional outcome. Results: (1) There were no statistically significant differences in age, blood glucose level at admission, onset to femoral artery puncture time, gender, hypertension, diabetes, atrial fibrillation, smoking, good collateral circulation ratio, NIHSS score and ASPECT score among the 4 groups (all P >0. 05). (2) There were no statistically significant differences in occlusion site of intracranial artery, the degree of extracranial stenosis, extracranial stenosis etiology, priority treatment of distal or proximal lesion and PTR time among the 4 groups (all P > 0. 05). (3) In the total of 124 stroke patients with anterior circulation tandem occlusion and treated with mechanical thrombectomy, the rate of successful reperfusion (mTICI class 2b-3) was 75. 8% (94 cases);symptomatic intracranial hemorrhage was 15. 3% (19 cases); favorable functional outcome at 90 days was 48. 4% (60 cases) and excellent functional outcome was 29. 0% (36 cases);the overall mortality rate was 22. 6% (28 cases). The successful recanalization rate of group A, B, and C was 67.4% (31/46), 75. 8% (25/33), and 75. 0% (21/28), respectively. All patients in group D achieved recanalization (17/17). Compared to the group D, the difference was statistically significant in each group(X2 = 6. 831, P = 0. 009; X2 =4. 906, P = 0. 027; X2 =7. 410, P = 0. 006). The excellent functional outcome of group A.B.and C were 21.7% (10/46), 18.2% (6/33) and 35.7% (10/28).respectively. Compared with group D(10/17), the difference of group A or group B was statistically significant (X2 =7. 878, P = 0.005;X2 =8.517, P = 0.004). However.there was no significant difference between group C and group D(X2 =2.288, P=0. 130). There was no significant difference in symptomatic intracranial hemorrhage, favorable functional outcome and overall mortality rate among the 4 groups (all P > 0. 05). Conclusion: For patients with tandem lesion of the anterior circulation and treated with mechanical thrombectomy, IVT combined with eCAS appears to be feasible and safety.

OBJECTIVE: To assess the value of Karyomapping for the prenatal diagnosis of facioscapulohumerial muscular dystrophy type 1 (FSHD1). METHODS: Peripheral blood and chorionic villi samples were collected from five families affected with FSHD1. Linkage-based diagnosis was carried out by using the Karyomapping method. Diagnosis for two fetal samples was carried out with the next-generation optical mapping system. RESULTS: The results of Karyomapping showed that three fetuses inherited the risky 4q35 region of the proband and two fetuses did not. The fetuses of families 1 and 2 received further diagnosis by the next-generation optical mapping system, and the results were consistent with those of Karyomapping. CONCLUSION Karyomapping has enabled prenatal diagnosis for the five families affected with FSHD1. The method was faster and simpler compared with conventional strategies, though its feasibility still needs further validation. Since there were no SNP loci designed on the Karyomap chip for the DUX4 gene and its 3' flanking regions, misjudgment due to chromosomal recombination could not be completely eliminated. The accuracy of this method still needs further validation.
Female ; Genetic Linkage ; Humans ; Muscular Dystrophies ; Pregnancy ; Prenatal Diagnosis

Objective To investigate the predictive factors of symptomatic intracranial hemorrhage(SICH) and the effect on outcomes after mechanical thrombectomy in patients with acute ischemic strokecaused by anterior circulation tandem occlusion. Methods From January 2014 to September 2018, patients with acute ischemic stroke caused by anterior circulation tandem occlusion and treated by endovascular mechanical thrombectomy from the Departments of Neurology in 5 general hospitals (the First Affiliated Hospital of Henan University of Science and Technology, the Affiliated Hospital of Yangzhou University,General Hospital of Eastern Theatre Command of PLA, Yijishan Hospital of Wannan Medical College,Xinqiao Hospital of Army Medical University of PLA) were enrolled retrospectively. SICH was evaluated according to the criteria of Heidelberg Bleeding Classification. The functional outcome was assessed by the modified Rankin Scale score at 90 d after onset, and 0-2 was defined as good outcome. Multivariate logistic regression analysis was used to determine the effect of SICH on the outcome at 90 d and the independent risk factors for SICH. Results A total of 124 patients with acute ischemic stroke caused by anterior circulation tandem occlusion and treated by endovascular mechanical thrombectomy were enrolled in this study. Among them, 19 (15. 3％) had SICH, 60 (48. 4％) had good outcomes, and 28 (22. 6％) died. The incidence of poor outcomes (94. 7％ vs. 43. 8％; χ2 = 16. 708, P < 0. 001 ) and mortality (57. 9％ vs.16. 2％; P < 0. 001 ) in the SICH group were significantly higher than those in the non-SICH group.Multivariate logistic regression analysis showed that SICH was an independent risk factor for poor outcome(odds ratio [OR] 27. 78, 95％ confidence interval [CI] 2. 60-96. 70; P = 0. 006), while larger infarct core(low ASPECT score) was the only independent predictor of SICH (OR 2. 63, 95％ CI 1. 18-5. 88; P =0. 018). Conclusion In patients with acute ischemic stroke caused by anterior circulation tandem occlusion and treated by endovascular mechanical thrombectomy, SICH is associated with poor outcome and higher mortality at 3 months, and larger preoperative infarction core is an independent predictor of SICH.

The 13th World Congress of the International Hepato-Pancreato-Biliary Association was held from 4th to 7th September 2018 in Geneva,Switzerland.Thousands of wellknown specialists and scholars from 96 countries around the world were invited for the great event.The congress aimed to explore the latest achievements of diagnosis and treatment of hepatobiliary and pancreatic diseases from both the clinical and basic perspective.In this article,authors reviewed and analyzed the up-to-date research information and combined clinical researches of the author team,in order to share the experience and achievements in the field of hepato-pancreato-biliary surgery with colleagues and provide new information and inference for optimization of diagnosis and treatment in this field.

Objective:To investigate the incidence and treatment of gastric cancer in 16 medical centers in Tianjin from 2020 to 2021.Methods:The retrospective and descriptive study was conducted. The clinical data of 3 122 gastric cancer patients who underwent surgery in 16 medical centers, including Tianjin Medical University Cancer Institute & Hospital, et al, in Tianjin from 2020 to 2021 were collected. There were 2 112 males and 1 010 females, aged (64±11)years. Observation indicators: (1) general data of patients; (2) treatment situations; (3) postoperative complications. Measurement data with normal distribution were represented as Mean± SD, and measurement data with skewed distribution were represented as M(range). Count data were descri-bed as absolute numbers or percentages, and comparison between groups was conducted by the chi-square test. Results:(1) General data of patients. From 2020 to 2021, a total of 3 122 gastric cancer patients received surgeries in 16 medical centers in Tianjin, including 2 112 males and 1 010 females. There were 1 443 cases in 2020, including 976 males and 467 females, aged (63±11) years. There were 1 679 cases in 2021, including 1 136 males and 543 females, aged (65±11) years. Of the 3 122 pati-ents, cases in stage Ⅰ, Ⅱ, Ⅲ, Ⅳ were 696, 667, 1 466, 293, accounting for 22.293%(696/3 122), 21.365%(667/3 122), 46.957%(1 466/3 122), 9.385%(293/3 122), respectively. Cases with early gastric cancer, locally advanced gastric cancer, advanced gastric cancer account for 17.265%(539/3 122), 73.350%(2 290/3 122), 9.385%(293/3 122). There were 2 829 patients without distant metastasis and 293 patients with distant metastasis. For the 2 829 patients without distant metas-tasis, cases in stage T1, T2, T3, T4a, T4b accounted for 19.053%(539/2 829), 12.089%(342/2 829), 20.148%(570/2 829), 41.499%(1 174/2 829), 7.211%(204/2 829)respectively, cases in stage N0, N1, N2, N3 account for 37.328%(1 056/2 829), 16.331%(462/2 829), 15.836%(448/2 829), 30.505%(863/2 829). For the 293 advanced gastric cancer patients with distant metastasis, 190 cases had peri-toneal metastasis, 47 cases had lymph node metastasis, 27 cases had ovarian metastasis, 37 cases had liver metastasis, 14 cases had other metastasis (some patients had ≥2 distant metastases). (2) Treatment situations. ① For the 539 with early gastric cancer, cases undergoing endoscopic submu-cosal dissection, laparoscopic surgery, open surgery were 22, 150, 86 in 2020, versus 19, 212, 50 in 2021, showing a significant difference between them ( χ2=19.42, P<0.05). For the 498 patients with early gastric cancer who underwent laparoscopic or open surgery, cases undergoing open surgery including total gastrectomy, distal gastrectomy, proximal gastrectomy were 25, 81, 30, and cases undergoing laparoscopic surgery including total gastrectomy, distal gastrectomy, proximal gastrec-tomy were 18, 309, 35, respectively, showing a significant difference between them ( χ2=40.62, P<0.05). For the 2 290 patients with locally advanced gastric cancer, cases undergoing open surgery and laparoscopic surgery were 446 and 617 in 2020, versus 410 and 817 in 2021, showing a significant difference between them ( χ2=17.75, P<0.05). For the 2 290 patients with locally advanced gastric cancer, cases undergoing open surgery including total gastrectomy, distal gastrectomy, proxi-mal gastrectomy were 336, 377, 143, and cases undergoing laparoscopic surgery including total gastrectomy, distal gastrectomy, proximal gastrectomy were 377, 920, 137, respectively, showing a significant difference between them ( χ2=89.64, P<0.05). Of the 293 patients with advanced gastric cancer, 175 cases underwent surgeries due to hemorrhage, stenosis, perforation, 76 cases under-went surgery after chemotherapy, 42 cases underwent surgery directly. ② For 756 cases of 3 122 pati-ents undergoing total gastrectomy, 357 and 4 cases received open digestive tract reconstruction including Roux-en-Y and other anastomosis, versus 380 and 15 cases with laparoscopic digestive tract reconstruction including Roux-en-Y and other anastomosis, showing a significant difference between them ( χ2=5.57, P<0.05). For 1 687 cases undergoing distal gastrectomy, 84, 160, 158, 55 cases received open digestive tract reconstruction including Billroth Ⅰ anastomosis, Billroth Ⅱ + Braun anastomosis, Roux-en-Y anastomosis, uncut Roux-en-Y anastomosis, versus 154, 489, 417, 170 cases with laparoscopic digestive tract reconstruction including Billroth Ⅰ anastomosis, Billroth Ⅱ + Braun anastomosis, Roux-en-Y anastomosis, uncut Roux-en-Y anastomosis, showing a significant difference between them ( χ2=10.90, P<0.05) . Of the 539 patients with early gastric cancer, 65 cases had lymph node metastasis, in which 18 of 306 stage T1a cases had lymph node metastasis and 47 of 233 stage T1b cases had lymph node metastasis. The number of detected lymph nodes for the 2 290 patients with advanced gastric cancer was 31±15, including ≥16 for 2 059 cases and ≥30 for 1 276 cases. Of the 3 122 patients, cases with neoadjuvant therapy, complete response and incomplete response was 128, 13 and 115 in 2020, versus 250, 49 and 201 in 2021, showing a significant difference between them ( χ2=5.51, P<0.05). (3) Postoperative complications. Of the 3 122 patients, 746 cases had postoperative complications, with an incidence of 23.895%(746/3 122). There were 62 patients with grade 3 or more complications. Reoperation was conducted in 34 patients. There were 14 cases of postoperative death. The duration of postoperative hospital stay and hospital expense were (11±5)days and (98 114±46 598)yuan for the 3 122 patients, (26±14)days and (122 066±68 317)yuan for cases with complications, (40±21)days and (196 926±12 747)yuan for cases with grade 3 or more complications. Conclusion:Compared with 2020, cases undergoing laparoscopic surgery and distal gastrectomy for gastric cancer in Tianjin increases in 2021, and the digestive tract reconstruction also differs. The number of patients with neoadjuvant chemotherapy and complete response rate for advanced gastric cancer increases.