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OBJECTIVE@#To explore genetic mutation types and their correlation with clinical phenotypes in Uighur patients with aortic disease in Kashgar (Xinjiang Uighur Autonomous Region, China).@*METHODS@#We examined 37 pathogenic genes in 19 Uighur families with aortic diseases including Marfan syndrome from Kashgar using next generation sequencing, and the results were confirmed by Sanger sequence in the first relatives.@*RESULTS@#This study included 19 families with aortic diseases, in whom a total of 23 variants were identified, and 11 (57.89%) probands had one or more variants. Among them, definite pathogenic mutation was detected in one patient (5.26%), variants of uncertain significance (VUS) were found in 8 (42.11%), and benign/likely benign variants were detected in 7 (36.84%). The 23 variants identified included one (5.26%) pathogenic variant, 14 (60.87%) VUS, and 8 (34.78%) benign/likely benign variants. The 14 VUS were analyzed by prediction with SIFT and Polyphen2 HDIV, which identified 6 (42.86%) variants as deleterious/possibly damaging; all the 8 benign/likely benign variants were predicted to be deleterious/possibly damaging.@*CONCLUSIONS@#We detected 23 genetic variants in the 19 Uighur families with aortic diseases, and 22 of these variants remain to be verified by more patient data in future studies.
Subject(s)
Humans , Aortic Diseases , China , Genetic Predisposition to Disease/genetics , High-Throughput Nucleotide Sequencing , Mutation , PhenotypeABSTRACT
Colon cancer is one of the most common malignancies of the alimentary tract, and one main metastatic route is lymph node metastasis. Thorough dissections of regional lymph nodes is one of the core surgical treatment of right colon cancer. D3 lymphadenectomy and complete mesocolic excision (CME) are generally accepted surgical methods for right colon cancer, which can improve the standardization of surgery, improve the quality of tumor resection, and provide more lymph nodes dissectal. Colon cancer of hepatic flexure is likely to have metastasis of the infrapyloric lymph nodes (No.206), which are not regional lymph nodes. Lymph node dissection of No.206 group belongs to extended right hemicolectomy, which involves many vascular variations and complicated peripheral anatomical structure. The theory of fascial surgery provides surgeons with anatomic basis and a clear understanding of the anatomical structure of the infrapyloric region, which is an important theoretical basis for the thorough dissection of lymph nodes in No.206 group, and can completely remove the mass, regional lymph nodes and adipose connective tissue, so as to achieve the goal of non-bleeding surgery. Lymph nodes in No.206 group were dissected, not just the visible lymph nodes, but the entire lymph nodes and lymphatic vessels in the region, including adipose tissue. Extended right hemicolectomy requires higher surgical techniques. The survival benefits of extended right hemicolectomy are not supported by high-level evidence. It is still controversial whether the infrapyloric lymph node dissection should become routine for colon cancer of hepatic flexure. In this article, the metastasis and dissection of infrapyloric lymph node in colon cancer of hepatic flexure is elucidated.
ABSTRACT
Colon cancer is one of the most common malignancies of the alimentary tract, and one main metastatic route is lymph node metastasis. Thorough dissections of regional lymph nodes is one of the core surgical treatment of right colon cancer. D3 lymphadenectomy and complete mesocolic excision (CME) are generally accepted surgical methods for right colon cancer, which can improve the standardization of surgery, improve the quality of tumor resection, and provide more lymph nodes dissectal. Colon cancer of hepatic flexure is likely to have metastasis of the infrapyloric lymph nodes (No.206), which are not regional lymph nodes. Lymph node dissection of No.206 group belongs to extended right hemicolectomy, which involves many vascular variations and complicated peripheral anatomical structure. The theory of fascial surgery provides surgeons with anatomic basis and a clear understanding of the anatomical structure of the infrapyloric region, which is an important theoretical basis for the thorough dissection of lymph nodes in No.206 group, and can completely remove the mass, regional lymph nodes and adipose connective tissue, so as to achieve the goal of non-bleeding surgery. Lymph nodes in No.206 group were dissected, not just the visible lymph nodes, but the entire lymph nodes and lymphatic vessels in the region, including adipose tissue. Extended right hemicolectomy requires higher surgical techniques. The survival benefits of extended right hemicolectomy are not supported by high-level evidence. It is still controversial whether the infrapyloric lymph node dissection should become routine for colon cancer of hepatic flexure. In this article, the metastasis and dissection of infrapyloric lymph node in colon cancer of hepatic flexure is elucidated.
Subject(s)
Humans , Colectomy , Colon, Ascending , Pathology , General Surgery , Colonic Neoplasms , Pathology , General Surgery , Lymph Node Excision , Methods , Lymph Nodes , Pathology , General Surgery , Lymphatic Metastasis , Mesocolon , Pathology , General SurgeryABSTRACT
Objective To construct phage display antibody library of artificial mutation to compare with the sequence of the natural phage display antibody library. To scientifically evaluate the quality of the artificial mutation of phage display library, and provide some references for the further transformation of the nanobody. Methods Using random mutation method, NNY fixed-point santuration mutation was performed on combine the follicle-stimulating hormone receptor (FSHR) of human nanobody. The mutant DNA sequence was connected to the vector pMECS to construct the phage display library of VHH06-CDR3 random mutation. By sequencing and analysis of DNA sequences, the diversity of the library and the amino acid distribution of CDR3 were compared between mutation library and the immune library of FSHR. The degree of enrichment of cloning was determined by six rounds of affinity screening. Results According to the NNY mutation rule ,the CDR3 regions with 16 amino acids by random mutations was synthesized and the VHH-CDR3 random mutant phage display library was constructed . The phage display library of VHH06-CDR3 random mutant size was 7.36×108 cfu/ml. Polyclonal and monoclonal phage ELISA showed that after six rounds of screening, the output phage and the combination of FSHR showed obvious enrichment, but there was no clone combined with FSHR. Conclusions Although the VHH06-CDR3 mutant phage display library has sequence diversity, it is not conducive to obtaining target antibodies in affinity screening due to the lack of functional diversity of CDR3.
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Objective To investigate the association of oxidized low density lipoprotein (ox-LDL ) in the serum and lipoprotein associated phospholipase A2 (Lp-PLA2) levels with carotid atherosclerosis and neurologic impairment in patients with cerebral is-chemic stroke .Methods 135 patients with acute cerebral infarction (ACI group) and 150 cases inpatients (control group) from February 2015 to February 2017 in the Traditional Chinese Medicine Hosptical of Xinjiang Uygur Autonomous Region were select-ed to detect serum ox-LDL and Lp-PLA2 levels ,and serum ox-LDL ,Lp-PLA2 and other levels of blood lipid index were compared between ACI group and control group ;carotid artery ultrasonography was conducted ,ox-LDL and Lp-PLA2 levels of non plaque group ,stable plaque group and unstable plaque group were compared ;ox-LDL and Lp-PLA2 levels of mild ,moderate and severe pa-tients according to the score of the National Institutes of Health Stroke Scale (NIHSS) were compared .Results The serum ox-LDL and Lp-PLA2 levels of ACI group were higher than those in the control group ,and the difference was statistically significant (P<0 .01);serum ox-LDL ,Lp-PLA2 levels of stable plaque and unstable plaque were significantly higher than those of non plaque group (P<0 .05);serum ox-LDL ,Lp-PLA2 levels of unstable plaque were higher than those of the stable plaque group (P<0 .05);serum ox-LDL and Lp-PLA2 levels of moderate and severe patients determined by the NIHSS score were significantly higher than that of mild patients (P < 0 .05);serum ox-LDL and Lp-PLA2 levels of severe patients were significantly higher than that of moderate patients (P<0 .05) .Conclusion Serum ox-LDL and Lp-PLA2 levels of patients with cerebral ischemic stroke increased significantly compared with the normal people ,which reflects the severity of carotid atherosclerosis and neurologic impairment .ox-LDL and Lp-PLA2 levels can be used as a serum marker of acute ischemic cerebrovascular disease ,has certain clinical significance in evaluating the severity and prognosis of acute ischemic cerebrovascular disease .
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Objective To evaluate the efficacy and side effects of adjuvant chemotherapy plus in-tensity modulated radiotherapy (IMRT) after breast-conserving surgery for stage Ⅰ and Ⅱ breast cancer.Methods After breast-conserving surgery, 108 patients received six cycles of chemotherapy followed by IM-RT. The irradiation dose of the whole breast was 50 Gy given by 25 fractions, followed by 10 Gy boost to the tumor bed given by 5 fractions with electron beams. Patients with positive estrone receptor or progesterone re-ceptor were given endocrine treatment, mostly with tamoxifen. Results The follow-up rate was 100% by December 2007. The number of patients followed-up at 1-, 2- and 3-year was 108,88 and 58. The 1-, 2- and 3-year over survival rates were 100% ,100% and 98%. Three patients had local recurrence. Different degree of dermatitis occurred with good long-term cosmetic results. No severe side effects occurred such as radiation-induced pneumonitis, pulmonary fibrosis and heart injury. Conclusions Breast cancer patients treated by adjuvant chemotherapy plus IMRT after breast-conserving surgery have high survival rate and low side-effect rate. The survival quality and local control can be improved.