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简介：AbstractImportance:Pathogenic variants in the RBM20 gene are associated with aggressive dilated cardiomyopathy (DCM). Recently, RBM20 was found to be associated with left ventricular non-compaction cardiomyopathy (LVNC). Thus far, only five families with LVNC have been reported to carry variants in RBM20. It remains unknown whether the variants in RBM20 associated with DCM can also cause LVNC.Objective:To elucidate the causative RBM20 variant in two unrelated patients with both LVNC and DCM, and to identify the clinical characteristics associated with variants in RBM20.Methods:Trio whole-exome sequencing (WES) was performed. Variants were filtered and classified in accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG).Results:We identified two distinct de novo variants in RBM20 (one per patient) in these two patients with LVNC. Both variants have been reported in patients with DCM, without the LVNC phenotype. Patient 1 was an 11-year-old girl who had DCM, LVNC, and heart failure; the ratio of noncompacted-to-compacted myocardium was 2.7:1. A de novo heterozygous variant c.1907G>A (p.Arg636His) in exon 9 was identified in this patient. Patient 2 was a 13-year-old boy who had clinical phenotypes identical to those of Patient 1; the ratio of noncompacted-to-compacted myocardium was 3.2:1 in this patient. WES revealed a de novo heterozygous variant c.1909A>G (p.Ser637Gly) in exon 9. Both variants were previously characterized as pathogenic, and our study classified them as pathogenic variants based on the ACMG guidelines.Interpretation:We found that two patients with LVNC had variants in RBM20. Our results extended the clinical spectrum of the two RBM20 variants and illustrated that the same variant in RBM20 can cause DCM, with or without the LVNC phenotype.

简介：AbstractPurpose:To assess the effectiveness of two-stage treatment with the fibular sliding technique in chronic infected nonunion of the tibia.Methods:The study included patients who were diagnosed with long-term chronic infected tibial nonunion following trauma and treated with the two-stage technique between January 2010 and November 2017. Patients with (1) intra-articular fractures of the distal third of the tibia and fibula, (2) pathological fracture resulting in bone loss or (3) neurological and vascular pathologies of the limbs were excluded. The operation consisted of two stages and the main goal in the first stage was to control the infection and in the second stage to control the healing of the bone. Functional & radiographic results and complications were evaluated according to Paley's criteria.Results:The patients comprised 14 males and 5 females with a mean age of 37.4 years (range, 21-52 years). Patients were followed up for an average of 27 months (range, 15-38 months). The microorganisms produced from these patients were Staphylococcus aureus in 13 patients, Pseudomonas aeruginosa in 4 patients and no bacteria in 2 patients. After the first stage operation, superficial skin necrosis developed in 1 patient. In another patient, there was a persistent infection, although union was achieved. For the entire patient group, union was observed at the end of 7.44 months (range, 7-11 months). Based on Paley's criteria, there were 16 (84.2%) patients with excellent scores, 2 (10.5%) good scores and 1 (5.3%) fair scores radiologically; while regarding the tibial function, 15 (78.9%) patients had excellent scores, 3 (15.8%) good scores, and 1 (5.3%) fair scores. No patients had poor radiological or functional score.Conclusion:Two-stage treatment can be considered as an alternative for fractures in regions that are susceptible to many and persistent complications, such as the tibia. This technique has the advantages of short operation time, minimal blood loss, no excessive tissue damage and not very technique-demanding (a short learning curve with no requirement for an experienced team).

简介：AbstractObjective:Second-generation antipsychotics are widely used in mental illness, but the treatment effects and side effects are affected by single nucleotide polymorphisms (SNPs) of related genes. Quetiapine and aripiprazole are two frequently used secondgeneration antipsychotic drugs. The aim of this study was to develop two different SNP detection methods for four SNP alleles associated with the pharmacokinetics of quetiapine and aripiprazole, based on high-resolution melting (HRM) and multicolor melting curve assay (MMCA) respectively.Methods:Whole genome DNA samples were obtained from 240 healthy people (107 females and 133 males) without genetic diseases. HRM methods were established using four kinds of specific primers and a saturated fluorescent dye. Each SNP allele with their own primers was detected in a single reaction. In the MMCA method, a multiplex polymerase chain reaction with 4 different-colored fluorescent probes was established to detect four SNP alleles in a single reaction. All experimental protocols were approved by the Ethics Committee of the Shanghai Children’s Medical Center, China (SCMC-201015) on November 22, 2010.Results:Two detection methods for the pharmacogenomics of quetiapine and aripiprazole, based on HRM and MMCA respectively, were established in this study. The single-target HRM method can be completed in 96 minutes, whereas the quadruplex MMCA method takes 133 minutes. It was found that the results of HRM and MMCA for the four SNP alleles had 100% coincidence with Sanger sequencing in the 240 samples.Conclusion:This study developed two methods for the detection of four pharmacogenomic SNP alleles that correlated with quetiapine and aripiprazole. Both methods are rapid, cost-saving, highly accurate and potentially facilitate rational use of second-generation antipsychotics for clinical medication.

简介：AbstractBackground:Extra-corporeal video telescope operating monitor system provides a necessary instrument to perform high-precision neurosurgical procedures that could substitute or supplement the traditional surgical microscope. The present study was designed to evaluate a compact high-definition two-dimensional exoscope system for assisting in surgical removal of large vestibular schwannoma (VS), as an alternative to a binocular surgical microscope.Methods:Patients with Koos grade 3 and grade 4 VS undergoing surgery were enrolled in this prospective cohort study between January 2013 and June 2018. The demographics and tumor characteristics (size, Koos grade, composition [cystic or solid mass]) were matched between the two groups of patients. The following outcome measurements were compared between the two groups: duration of surgery, volume of blood loss, extent of tumor resection, number of operating field adjustments, pre- and post-operative facial and cochlear nerve function evaluated at 3 months post-surgery, complications and surgeons’ comfortability.Results:A total of 81 patients received tumor resection through the retrosigmoid approach under either an exoscope (cases, n = 39) or a surgical microscope (control, n = 42). Patients in the two groups had comparable tumor location (P = 0.439), Koos grading (P = 0.867), and composition (P = 0.891). While no significant differences in the duration of surgery (P = 0.172), extent of tumor resection (P = 0.858), facial function (P = 0.838), and hearing ability (P = 1.000), patients operated on under an exoscope had less blood loss (P = 0.036) and a fewer field adjustments (P < 0.001). Both primary and assistant surgeons reported a high level of comfort operating under the exoscope (P = 0.001 and P < 0.001, respectively).Conclusions:The compact high-definition two-dimensional exoscope system provides a safe and efficient means to assist in removing large VSs, as compared to a surgical microscope. After the acquaintance with a visual perception through a dynamic hint and stereoscopically viewing corresponding to the motion parallax, the exoscope system provided a comfortable, high-resolution visualization without compromising operational efficiency and patient safety.

简介：AbstractPurpose:Recurrent dislocation of shoulder (RDS) is a common injury in high demand professionals, like athletes and military personnel. The treatment for the patients with Bankart lesion is the arthroscopic repair. This present study compares the outcomes of two different techniques of arthroscopic Bankart repair i.e. a standard two anterior portals technique and a single anterior portal technique in patients with RDS.Methods:Patients with traumatic RDS met the inclusion criteria were managed with Bankart repair using either two anterior portals (Group A) or a single anterior portal (Group B) technique. Patients were evaluated before the intervention and at the mean follow-up of approximately two years using Rowe score, Oxford shoulder score and Tegner activity scale.Results:The mean age of the patients in Groups A (n = 34) and B (n = 37) was 29.64 years and 29.05 years respectively (p = 0.66). The dominant shoulder was involved in 27 patients in Group A and 22 patients in Group B (p = 0.069). The operative time in Group A and B was 68.52 min and 46.35 min, respectively (p < 0.001). The complications at follow-up, the mean Rowe score and Oxford score improved significantly in both groups compared with the pre-operative values. However, the final outcome scores were not significantly different between the both groups. The median Tegner's score preoperatively and at follow-up was 7 and 6, respectively in Groups A and B.Conclusions:Single anterior portal technique is an effective treatment modality, yielding a similar outcome as two anterior portals technique in the management of RDS.

简介：摘要：本文通过对一起站内稳控主从机之间光纤衰耗大 ,引起的通道间歇性异常报警及一起线路保护复用式光纤通道 ,因 2M线损坏引起的线路保护光纤通道中断处理案列，给出具体的解决处理方案，同时对光纤通道的组建、运行维护提出了建议。

简介：AbstractObjective:Various techniques are proposed for changing fetal presentation. We aimed to assess the effect of BL67 point stimulation on correcting breech presentation and natural delivery in women at 36-38 gestational weeks.Methods:A parallel single blinded randomized clinical trial was conducted on 72 eligible pregnant women with breech presentation at the 36 weeks of pregnancy. The subjects were divided into two groups - intervention (n = 36) and control groups (n = 36) by block randomization method. The intervention group stimulated the BL67 point by self-administration for 20 min once a day for 2 weeks. Finally, the appearance of cephalic presentation and rate of vaginal delivery was compared between the groups (n1 = n2 = 32) using the Chi-square test and multivariate logistic regression.Results:The correction of breech to cephalic presentation occurred in 53.1% of patients in the intervention group. The adjusted relative risk (RR) for fetal correction from breech to cephalic was 1.80 (RR = 1.80, 95% confidence interval [CI], 1.13-5.17). It was shown that the stimulation of the BL67 point increased the correction of breech to cephalic presentation. In addition, the rate of vaginal delivery increased by >4-fold (RR = 4.16, 95% CI, 2.54-6.82) by correction to cephalic presentation. Moreover, 65.6% of mothers in intervention group and 90.6% in the control group underwent cesarean section.Conclusions:The stimulation of the BL67 point is a safe, inexpensive, and effective method that can be self-administered at home for fetal correction from breech to cephalic presentation in women with breech presentations during 36-38 gestational weeks. This promotes uncomplicated natural childbirth.

简介：AbstractBackground:Cell salvage has recently been recommended for obstetric use in cases with a high risk of massive hemorrhage during cesarean section (CS). However, limited data are available to support the use of one suction device to collect lost blood. This study aimed to investigate the volume of red blood cells (RBCs) salvaged and the components of amniotic fluid (AF) in blood salvaged by one suction device or two devices during CS in patients with placenta previa and/or accrete.Methods:Thirty patients with placenta previa and/or accrete undergoing elective CS in the Women’s Hospital of Zhejiang University School of Medicine were recruited for the present study from November 1, 2017 to December 1, 2018. The patients were randomly assigned to one of the two groups according to an Excel-generated random number sheet: Group 1 (n = 15), in which only one suction device was used to aspirate all blood and AF, and Group 2 (n = 15), in which a second suction device was mainly used to aspirate AF before the delivery of the placenta. Three samples of blood per patient (pre-wash, post-wash, and post-filtration) were collected to measure AF components. The salvaged RBC volumes were recorded. Continuous data of pre-wash, post-wash, and postfiltration samples were analyzed by using one-way analysis of variance with Tukey’s test for multiple comparisons, or Kruskal-Wallis test with Dunn test for multiple comparisons. Comparisons of continuous data between Group 1 and Group 2 were conducted using Student’s t test or Mann-Whitney U test.Results:The salvaged RBC volume was significantly higher in Group 1 than that in Group 2 (401.6 ± 77.2 mL vs. 330.1 ± 53.3 mL, t = 4.175, P < 0.001). In both groups, squamous cells, lamellar bodies, and fat were significantly reduced by washing (all P<0.001) and squamous cells were further reduced by filtering (P < 0.001). Squamous cells were found in six post-filtration samples (three from each group). Lamellar bodies and fat were completely removed by filtering. Insulin-like growth factor binding protein 1, alphafetoprotein, albumin, lactate dehydrogenase, and potassium were significantly reduced post-wash (all P < 0.05), with no further significant reduction after filtration in either group (all P > 0.05). The mean percentage of fetal RBCs post-filtration was (1.8 ± 0.8)% with a range of 1.0% to 3.5% and (1.9 ± 0.9)% with a range of 0.7% to 4.0% in Groups 1 and 2, respectively, showing no significant difference between the two groups (U= 188.5, P = 0.651).Conclusion:Cell salvage performed by one suction device could result in higher volume of salvaged RBCs and can be used safely for CS in patients with placenta previa and/or accrete when massive hemorrhage occurs.

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