Immuno-actinopathies are hereditary diseases characterized by immunodeficiency and immune dysregulation due to the mutations in single genes which are regulating actin remodeling. Mutations in actin-related regulatory genes can lead to functional defects in actin activation, extension, branching, transcription and others. The mutations also affect the cytoskeleton and pseudopod formation; then they further affect the functions of immune cell, resulting in cell deformation, motility, phagocytosis, and adhesion. The clinical manifestations vary, including infection, autoimmunity, autoinflammatory, and susceptibility to tumors, making the detection and diagnosis difficult. The pathogenic mechanisms of some of the related diseases have been preliminarily elucidated. Future research will focus on the identification of new immunoactinopathy-caused genes and its mechanism, discovery of new precision therapeutic target, development of drugs, improvement of hematopoietic stem cell transplantation strategies, and discovery of new gene therapy. Immuno-actinopathies have a low incidence rate with diversified clinical manifestations so that they are easy to be misdiagnosed and missed. This article reviews the pathogenic gene defects of actinopathies and their clinical manifestations in detail that are valuable to clinical reference.

Objective To investigate the effects of different ratios of ω-3 polyunsaturated fatty acids(ω-3 PUFA)on depression and cognitive impairment in patients with major depression.Methods A randomized,double-blinded controlled trial was used to randomly assign patients with depression to a cognitive improvement group,a depression improvement group,and a placebo group.The cognitive improvement group took 1388 mg of docosahexaenoic acid(DHA)and 692 mg of eicosapentaenoic acid(EPA)every day and the depression improvement group took 1248 mg of EPA and 832 mg of DHA every day.The placebo group took the same dose of soybean oil for 12 weeks,during which psychiatric medication was maintained.The 24-item Hamilton depression scale(HAMD-24)was used to evaluate depressive symptoms,and the standardized MATRICS consensus cognitive battery(MCCB)was used to evaluate cognitive function after 6 weeks and 12 weeks,respectively.Results The study recruited a total of 46 patients with depression including 22 in the cognitive improvement group,12 in the depression improvement group,and 12 in the placebo group.After 6 weeks of treatment,the HAMD-24 scores were significantly lower in the depression improvement group(19.00±10.70)and cognitive improvement group(16.58±9.39)than in the placebo group(31.10±10.03)(P<0.01).After 12 weeks of treatment,HAMD-24 scores were significantly lower in the depression improvement group(13.58±8.43)than in the placebo group(28.10±15.04)(P=0.02).No significant interaction effect was found on the cognitive assessment scores in any dimension after 6 weeks and 12 weeks of treatment(P>0.05).The incidence rate of adverse events in the depression improvement group was 16.7%(2/12),and no adverse events were reported in the other two groups.There was no significant difference in the incidence of adverse events among the three groups(P=0.13).Conclusion Treatment with ω-3PUFA for 6 weeks can improve the depressive symptoms of patients with depression.The formula with a higher ratio of EPA exhibits higher effectiveness while the two groups of ω-3PUFA formulas with different ratios do not improve cognitive function.

Objective:To speculate the effect of birth spacing on the pelvic floor type Ⅰ and Ⅱ fiber muscle strength of postpartum women with parities of two in different delivery modes.Methods:Totally 2 361 parturients who were investigated in Xuzhou Central Hospital from June 2016 to December 2020 were included in the questionnaire, clinical examination and pelvic floor surface electromyography assessment. According to the interval years between two parities and the pelvic floor typeⅠ and Ⅱ fiber muscle strength under different modes of delivery, curve fitting function equation was performed using curve regression method. The accuracy of the equation was verified by the receiver operating characteristic curve and the maximum area under the curve, and calculating the relative error rate.Results:A total of 2 357 parturients were included in the study and were divided into 4 groups based on delivery modes, women with both normal vaginal delivery were assigned to group A (589 cases); women with a first vaginal delivery and a second cesarean section were assigned to group B (480 cases); women with both cesarean deliveries were assigned to group C (1 273 cases); women with a first cesarean section and a second vaginal delivery were assigned to group D (15 cases). All of the curve fitting results were quadratic curves, and the appropriate interval years were selected when the muscle strength of type Ⅰ muscle fibers was>35 μV and that of type Ⅱ muscle fibers was>40 μV: 6-8 years in the group A, 5-10 years in the group B, and 1-11 years in the group C. The peak values of the quadratic curve were as follows: 7-8 years in the group A, 7-8 years in the group B, and 6 years in the group C. The maximum area under the curve of the function equations were all>0.6 (all P<0.05), the average relative error rate was 4.909%. Conclusions:The pelvic floor function of postpartum women with parities of two increases firstly and then decreases over time, showing a quadratic curve shape. In order to protect the pelvic floor function, the appropriate interval of birth spacing is 6-8 years.

Objective To compare biomechanical properties of the traditional and novel locking compression plate （LCP） for treating femoral shaft fracture, so as to provide theoretical basis for selecting more effective bone plate. Methods The bending strength and fatigue tests on the plate were performed, and the finite element analysis on deformation, stress and life of the plate were conducted by using ANSYS Workbench. Results The average bending yield load and bending strength of the novel LCP were 1.4 times of that of the traditional LCP, and the average cycle times of the novel and traditional LCP were 106 and 47 091, respectively. The difference of service life for two LCPs was 33.8%. ConclusionsThe failure probability of the novel LCP is smaller than that of the traditional LCP, and the novel LCP has more effective biomechanical stability.

OBJECTIVE: To compare the accuracy of five warfarin-dosing algorithms and warfarin stable dose model (2.5 mg/day) for Shandong population. METHODS: One hundred and twenty five patients who achieved stable warfarin dose were enrolled. Clinical and genetic data were used to evaluate the value of each algorithm by calculating the percentage of patients whose predicted warfarin dose was within 20% of the actual stable therapeutic dose and mean absolute error (MAE). RESULTS: The frequency of patients with CYP2C9*1/*1, CYP2C9*1/*3 and CYP2C9*1/*2 genotype was 92.00%, 7.20%, 0.80%, respectively. That of VKORC1-1639 AA, AG and GG genotype was 82.40%, 15.20%, 2.40%, respectively. CYP4F2*1/*1, *1/*3, *3/*3 genotype was 50.40%, 39.20%, 10.40%, respectively. With the same genotypes for other loci, patients who carried at least one VKORC1-16398G mutant allele had increased warfarin stable daily dose compared with VKORC1-1639AA. Compared with CYP4F2*1/*1, those carrying at least one CYP4F2*3 mutant allele had warfarin stable daily dose increased by 5.9%-13.00%. The percentage of ideal prediction calculated from IWPC model (59.20%), Huang model (57.60%) and Ohno model (52.80%) were higher than others. The MAE were 0.35 (95%CI: 0.11-0.49), 0.15 (95%CI: 0.10-0.32), 0.39 (95%CI: 0.12-0.51), respectively. CONCLUSION The polymorphisms of CYP2C9, VKORC1 and CYP4F2 genes can influence the stable dose of warfarin in Shandong population. IWPC algorithm is suitable for guiding the use of warfarin in this population.
Anticoagulants ; administration & dosage ; Aryl Hydrocarbon Hydroxylases ; Cytochrome P-450 CYP2C9 ; genetics ; Cytochrome P450 Family 4 ; genetics ; Dose-Response Relationship, Drug ; Genotype ; Humans ; Models, Theoretical ; Polymorphism, Genetic ; Vitamin K Epoxide Reductases ; genetics ; Warfarin ; administration & dosage

Objective:To analyze the characteristics of HIV-1 molecular network in men who have sex with men (MSM) from 2016 to 2018 in Kunming, Yunnan province, explore the risk factors associated with HIV-1 transmission network and provide evidence for the effective implementation of intervention.Methods:A total of 540 samples of newly reported HIV-1 positive MSM were consecutively collected in Kunming from 2016 to 2018, the pol gene fragments were amplified by nested polymerase chain reaction (PCR). HIV-1 molecular networks were constructed according to the bootstrap value of the maximum likelihood evolutionary tree over 95% and the genetic distance less than 3%. The factors associated with the subjects entering network and network growth were further analyzed. Results:Among 459 successfully sequenced samples, seven genotypes were found, in which CRF07_BC (49.2%, 226/459) and CRF01_AE (40.3%, 185/459 ) were predominant. Other genotypes included URFs (4.8%, 22/459), CRF08_BC (3.1%, 14/459), CRF55_01B (1.7%, 8/459), B (0.7%, 3/459) and CRF68_01B (0.2%, 1/459). A total of 163 sequences entered the network, with an entry rate of 35.5%(163/459), forming 56 clusters with the number of individuals in the cluster was between 2 and 13. The analysis of the factors associated with entering network showed that the MSM who married and had multiple homosexual partners were more likely to be found in HIV-1 molecular networks. Multivariate logistic regression analysis showed that the number of sexual partners was the factor for the growth of HIV-1 molecular network. According to the criteria for the emergence of three or more newly reported cases in every year, six transmission clusters were judged as active transmission clusters, in which MSM who were not Kunming natives, had sexually transmitted diseases (STD), were divorced and students were the key targets of intervention.Conclusions:HIV-1 genotypes in MSM in Kunming were becoming complex, the risk factors associated with transmission networks in MSM in Kunming included being married and having multiple partners, the intervention targets in active transmission clusters included MSM who were not Kunming natives, had STD, were divorced and students. This study provided the basis for applying HIV-1 molecular networks to real-time intervention in this population.

Objective To compare the long-term outcomes of partial hepatectomy versus choledocholithotomy both combined with choledochoscopy,for the treatment of hepatolithiasis.Methods Patients who underwent either type of the operations were followed up and examined using hepatobiliary magnetic resonance (enhanced MRI + MRCP).The incidences of abnormal imaging in the two groups were compared.Results Of 268 patients,138 patients underwent partial hepatectomy and the remaining 130 patients underwent choledocholithotomy.When hepatectomy was compared with choledocholithotomy,the recurrence rate of acute cholangitis combined with bile duct stone (5.8％ vs.21.5％),the reoperation rate (5.8％ vs.21.5％),the bile duct stricture rate (8.0％ vs.44.6％),the abnormal liver parenchyma perfusion rate (4.3％ vs.23.1％),the incidence of intrahepatic bile duct enhancement or thickening (1.5％ vs.26.9％),the incidence of hepatic atrophy (3.0％ vs.30.0％) and the incidence of cholangiocarcinoma (0 vs.2.3％) were better.Conclusions The long-term adverse outcomes were significantly worse in the choledocholithotomy group than in the partial hepatectomy group.Choledocholithotomy combined with choledochoscopy should only be considered as a complementary procedure to partial hepatectomy in hepatolithiasis.

Objective To discuss medicine using regularity of Yan Shiyun’s treatment for arrhythmia. Methods Medical cases of arrhythmia treated by Yan Shiyun were collected. The method of frequency of SPSS19.0 was used to analyze the frequency of single herb and common prescriptions. Results Totally 112 medical cases were collected. Three different kinds of arrhythmia in totally 315 prescriptions were collected and 18 same herbs were used in the 20 highest frequently used herbs. The first two were Chuanxiong Rhizoma and Persicae Semen. Buyang Huanwu Decoction is the most commonly used prescription, followed by Zhenwu Decoction. Conclusion Most Chinese herbal medicine included in Yan Shiyun’s prescriptions can tonify qi and invigorate the circulation of blood. The medicine use is concentrated, and composition law is clear.

Objective To develop miniature pig model of coronary microembolization (CME) by easy and cost-effi-cient technique. Methods A total of 11 miniature pigs were divided into control group (n=5) and CME group (n=6). Femo-ral artery was punctured using 21 gauge needle that is normally used for transradial procedures. Microspheres were injected into the left anterior descending artery of the CME group by 5 F coronary radiography catheter and 1.8 F coronary micro-guide catheter. Serum concentrations of brain natriuretic peptide (BNP) and cardiac troponin I (cTnI) were evaluated just be-fore CME and 6 hours after CME. Apical myocardial pathological lesions were evaluated by optical microscope 6 hours after CME. Results All miniature pigs in control group survived, but one died in the CME group. 5 F coronary radiography cathe-ter and 1.8 F coronary micro-guide catheter reached designated location successfully. Before CME, serum BNP (ng/L:143.00 ± 13.51 vs 134.00 ± 15.57) and cTnI (μg/L:0.39 ± 0.09 vs 0.38 ± 0.10) showed no significant differences between these two groups (t values are 0.976 and 0.294 respectively,both P>0.05). By contrast, serum BNP (561.00 ± 80.65) and cTnI (2.75±0.58) were much higher in CME group than those (BNP 139.00±13.87;cTnI 0.54±0.14 ) in control group after CME (t values are 11.530 and 8.337 respectively,both P＜0.001). In CME group, microspheres, micro-infarction and inflammatory cell infiltration were seen under an optical microscope which are absent in control group. Conclusion Using new surgical consumables can successfully develop miniature pig model with CME. And the technique is simple, cost-efficient, practical so it is worth promoting.

Objective To summarize the experience of surgical management of postoperative intrahepatic duct stones and strictures with choledochoscope.Methods The clinical data of 1241 patients with intrahepatic duct stones and strictures who were admitted to the Shenzhen People's Hospital from January 2000 to December 2011 were retrospectively analyzed.All patients were divided into postoperative choledochoscopy group (652 patients were treated by choledochoscope through T-tube fistula) and conservative treatment group (589 patients were treated by cholangic and antibiotic drugs) according to treatment plan.The clinical data including stricture alleviation,incidence of complications and treatment efficacies of the 2 groups were compared using the chi-square test.Results In the postoperative choledochoscopy group,the intrahepatic duct stones of 630 patients were completely removed,with the removal rate of 96.63％ (630/652),which was significandy higher than 76.23％ (449/589) of the conservative treatment group (x2=113.407,P ＜ 0.05).A total of 1237 intrahepatic duct strictures were detected in the postoperative choledochoscopy group,including 698 cases of membranous stricture (the length of strictured bile duct ＜ 2 mm),529 cases of spool-shaped stricture (2 mm ≤ the length of strictured bile duct ≤5 mm),8 cases of long tube-shaped stricture (the length of strictured bile duct ＞ 5 mm),2 cases of crackshaped stricture.The alleviation rate of the stricture was 99.35％ (1229/1237).The conditions of 6 cases of long tube-shaped stricture and 2 cases of crack-shaped stricture were not alleviated.There were 986 cases of intrahepatic duct strictures in the conservative treatment group,and the stricture alleviation rate was 80.43％ (793/986).There was a significant difference in the stricture alleviation rate between the 2 groups (x2=238.994,P ＜ 0.05).Nine patients in the postoperative choledochoscopy group had severe complications.Five patients had intrahepatic duct hemorrhage with a volume of blood loss more than 1500 ml,and they were treated by balloon dilatation hemostasis.One patient with repeated intrahepatic duct bleeding received hepatectomy.Two patients with severe intrahepatic cholangitis received choledochoscopy.Two patients had incomplete formation of sinus and they received implantation of biliary stents under duodenoscope.Conclusion Standard surgical management with choledochoscope can effectively alleviate postoperative intrahepatic duct stones and strictures.