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【Objective】 To retrospectively analyze the clinical manifestations, related laboratory examinations and gene mutation of 20 patients with congenital Fibrinogen disorders (CFD) admitted to our hospital from February 2017 to December 2021, so as to improve the understanding of CFD diagnosis. 【Methods】 Clinical characteristics and laboratory examination of 20 CFD patients were collected, and common secondary hypoFibrinemia factors were excluded. Gene sequencing was performed on all exons and flanks of FGA, FGB and FGG genes of 20 patients to find gene mutation sites. The peripheral blood genomic DNA was collected from the family members of two CFD patients, and the genes of the corresponding mutation sites of the proband were detected. 【Results】 The 20 CFD patients had no history of bleeding; 11 female patients had no history of spontaneous abortion; all 20 patients had reduced Fib and prolonged thrombin time (TT). There were 13 gene mutations of different types in 20 patients, among which 90% (18/20) were missense mutations, 5% (1/20) was deletion mutation, and 5% (1/20) was frameshift mutation. Seven patients (35%) had Arg35His mutation at site 104 of the FGA chain, among which 3 new gene mutations have not been reported in China. 【Conclusion】 Most CFD patients with mild or asymptomatic symptoms can be diagnosed by genetic testing and screening. FGA chain Arg35His is a mutation hotspot in this region, and all of them are Uyghur. Whether the mutation of this site is related to ethnicity needs to be confirmed by further studies.
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【Objective】 To investigate the distribution frequency and characteristics of Rh and Kell erythrocyte blood group antigens in Uygur population in Xinjiang, and to explore the molecular mechanism of K gene positive patients, so as to build a local rare blood group bank and improve the ability of clinical blood security. 【Methods】 From June 2018 to February 2020, blood samples of 4 000 unrelated Uygur healthy individuals from the Medical Examination Center of our hospital and other cooperative hospitals across the autonomous region were selected. Rh and Kell blood group antigens were detected using K/Rh antigen microcolumn gel cards. The exons of Kell gene were amplified by PCR and then subjected to electrophoresis and direct sequencing to investigate the molecular mechanism. 【Results】 In Xinjiang Uygur healthy population, 1) The RhD negative rate was 5.675% (227/4 000), including 5 phenotypes; RhD positive rate was 94.325% (3 773/4 000), including 9 phenotypes, which were in line with Hardy-Weinberg equilibrium distribution. The C/E antigen frequency in RhD negative and positive patients was 13.216%/4.185% vs 52.876%/25.788% (PC, g. 412A>G, exon 6, g. 133C>T, and g. 189T>C, respectively, two of which caused changes in amino acid sequence: alanine at position 193 to methionine (p.Ala193Met) and alanine 423 to valine (p.al423Val). The prediction of RNA secondary structure and protein conformation after mutation using relevant biological information software found that the mutation caused changes in RNA secondary structure, free energy, protein conformation and function. 【Conclusion】 The frequency of RhD antigen negative in Xinjiang Uygur population was higher than that in other ethnic groups, and the distribution of C/E antigen was different in D antigen negative/positive patients. The distribution of K antigen in Kell blood group system was higher than that in other ethnic groups (P<0.05). The primary and secondary structure changes of nascent peptide chain caused by a single point mutation in Kell gene may be one of the molecular mechanisms of K antigen positivity.
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Objective:To investigate and compare the efficacy and safety of percutaneous mechanical thrombectomy (PMT) combined with catheter directed thrombolysis and catheter directed thrombolysis alone in the treatment of acute lower extremity deep venous thrombosis.Methods:Retrospective analysis of clinical data of 69 patients with acute lower extremity deep venous thrombosis who met the inclusion criteria of this study from January 2018 to December 2018 in department of vascular surgery, People′s Hospital of Xinjiang Uygur Autonomous Region was performed. There were 35 males and 34 females, with an average age of 59 years and an age rang of 20 to 80 years. Patients were divided into PMT combined catheter directed thrombolysis treated group ( n=38) and catheter directed thrombolysis treated group ( n=31) according to different methods of intra-luminal thrombolysis. The thrombolysis time, dosage of urokinase, thrombotic clearance rate, perimeter difference of suffered limb, and total number of adverse events during perioperative period between two groups were recorded. At 1 month, 3 months, and 6 months after discharge, patients underwent an ultrasonographic examination of lower extremity vessels to check and evaluate residual thrombolysis and thrombosis recurrence by outpatient review. The quantitative data in the two groups were expressed as mean±standard deviation( Mean± SD), t test was used for comparison between groups. Enumeration data in the two groups were expressed as percentage (%) and χ2 test was used for comparison between groups. Results:The thrombolysis time of PMT combined catheter directed thrombolysis treated group and catheter directed thrombolysis treated group were (3.7±2.1) d and (5.2±2.1) d, respectively. The differences between the two groups were statistically significant ( P=0.005). The dosage of urokinase were respectively (225.0±122.3)×10 4 units and (315.8±108.6)×10 4 units, the differences were statistically significant ( P=0.001). PMTⅠ, Ⅱ, Ⅲ thrombus clearance rate in patients with PMT combined catheter directed thrombolysis treated group were 18.4% (7/38), 73.7% (28/38), 7.9% (3/38), while 16.1% (5/31), 77.4% (24/31), 6.5% (2/31) were observed in patients with catheter directed thrombolysis treated group, with no statistically significant difference between the two groups ( P= 0.803, P=0.720, P=0.818). After a period of 48h thrombolytic therapy, the cross-section diameters of suffered thigh and calf were (2.16±0.87) cm and (1.38±0.66) cm in PMT combined catheter directed thrombolysis treated group respectively. While the cross-section diameters of suffered thigh and calf were (1.21±0.59) cm and (1.02±0.49) cm in catheter directed thrombolysis treated group respectively. The differences in the cross-section diameters of suffered thigh and calf were statistically significant after a period of 48h thrombolytic therapy ( P<0.001, P=0.014). Three cases (7.89%) had occurred adverse events during perioperative period in PMT combined catheter directed thrombolysis treated group, while there were 4 cases (12.90%) in catheter directed thrombolysis treated group, with no statistically significant difference between two groups ( P=0.692). The six month follow-up rate of PMT combined with catheter directed thrombolysis treated group was 71.05%(27/38), while that of the catheter directed thrombolysis treated group was 64.52% (20/31), with no statistically significant difierence between the two groups ( P=0.532). During the six month of follow-up, the recurrence rate of thrombus in PMT combined catheter directed thrombolysis treated group (3/27, 11.11%) was lower than those patients in catheter directed thrombolysis treated group (3/20, 15.00%), with no statistically significant difference between the two groups ( P=0.693). Conclusions:Compared with catheter directed thrombolysis treated group, PMT combined catheter directed thrombolysis treated group has a similar clinical efficacy for treatment of acute lower extremity deep venous thrombosis. PMT combined catheter directed thrombolysis treated group has advantages of reducing dosage of urokinase, shortening duration of thrombolysis time and relieving the swelling of suffered limb in a short time rather than catheter directed thrombolysis treated group. It shows a great result in the short term follow up.
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Appendicitis is the most common disease of Digestive system,had a great influence on human health.Due to the further understanding of the immune function of the appendix,Doctors rethink and start researching nonsurgical and antibiotic therapies in patients with appendicitis.In particular,children with acute appendicitis can choose conservative treatment.This article reviews various methods of appendicitis treatment and their respective advantages and disadvantages.Guide clinicians how to choose the most appropriate treatment plan based on the actual situation of patients and provides valuable research information for the research on the treatment of appendicitis.
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The production of 2, 3-butanediol and succinic acid by a moderate halophile under anaerobic condition was investigated. This halophile, termed Salinivibrio YS, was isolated from the solid samples collected from Aydingkol Lake. Based on the single factor experiment, the parameters and their values for the production were obtained. Then, the optimum values of these parameters by the orthogonal experiments were obtained: temperature, 33 degrees C; initial pH of fermentation, 8.0; the pH during fermentation, 7.0; the concentration of acetic acid was 3 g/L and NaC1 was 10 g/L. Finally, a 3-L fermentation based on these conditions was carried out. After 108 h of fermentation under anaerobic condition, 35.05 g/L of 2, 3-butanediol and 22.46 g/L of succinic acid were obtained. About 50% of total glucose conversion was achieved. The study on 2, 3-butanediol and succinic acid by a halophile under anaerobic condition will expand the applications of halophiles and open a new area of production of 2, 3-butanediol and succinic acid.