OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with Aicardi-Goutières syndrome 3 (AGS3). METHODS: Trio whole exome sequencing was carried out for the child and his parents, and candidate variants were verified by Sanger sequencing. To further clarify their pathogenicity, the crystal structure of the variants was simulated and analyzed, and the plasmid of variants was expressed in vitro. A literature search was also carried out to summarize the phenotypic and genetic characteristics of AGS3. RESULTS: The child was found to harbor novel compound heterozygous variants of the RNASEH2C gene, namely c.434G>T (p.Arg145Leu) and c.494G>C (p.Ter165Ser), which were inherited from his mother and father, respectively. Analysis of protein crystal structure suggested that the c.434G>T (p.Arg145Leu) variant may affect the stability of local structure, and in vitro experiments showed that this variant can lead to protein degradation. The c.494G>C (p.Ter165Ser) variant has destroyed the stop codon, resulting in prolonged variant. CONCLUSION The novel compound heterozygous variants of the RNASEH2C gene probably underlay the AGS3 in this child, which has enriched the phenotypic and mutational spectrum of this disorder.
Humans ; Child ; Mutation ; Autoimmune Diseases of the Nervous System/genetics* ; Nervous System Malformations/genetics*

Objective To explore the clinical efficacy of Da Vinci robot-assisted radical gastrectomy for gastric cancer.Methods The retrospective cohort study was conducted.The clinicopathological data of 472 patients who underwent radical gastrectomy for gastric cancer in the 940 Hospital of the People's Liberation Joint Service from June 2016 to June 2018 were collected.There were 372 males and 100 females,aged (57± 11) years,with a range from 17 to 85 years.Patients underwent gastrointestinal angiography,magnetic resonance imaging,computed tomography or gastrointestinal endoscopy before surgery,and were diagnosed with gastric cancer by biopsy.Of the 472 patients,241 underwent Da Vinci robot-assisted radical gastrectomy for gastric cancer were allocated into robotic group and 231 underwent laparoscopy-assisted radical gastrectomy were allocated into laparoscopic group.Observation indicators:(1) surgical situations;(2) postoperative situations;(3) follow-up and survival.Follow-up using outpatient examination and telephone interview was performed to detect the tumor recurrence and metastasis and survival of patients up to January 30,2019.Measurement data with normal distribution were expressed as Mean±SD,and comparison between groups was done using the t test.Measurement data with skewed distribution were described as M (range).Count data were described as absolute number or percentage,and the chi-square test was used for comparison between groups.Comparison of ordinal data was done using the rank-sum test.The accumulative survival rate,tumor-bearing survival rate and mortality of tumor recurrence were calculated by the Kaplan-Meier method,and Log-rank test was used for survival analysis.Results (1) Surgical situations:472 patients underwent successful operation,with R0 margin.Cases with total gastrectomy + D2 lymph node dissection + Roux-en-Y anastomosis,cases with distal subtotal gastrectomy + D2 lymph node dissection + Billroth Ⅱ anastomosis,operation time,upper margin distance,lower margin distance,tumor diameter,cases with shallow muscular invasion,deep muscular invasion,subserosal invasion and serosal invasion (depth of tumor invasion)were 107,134,(234±44)minutes,(4±3)cm,(6±4)cm,(5 ±3)cm,8,17,32,184 in the robotic group,and 94,137,(239±46)minutes,(4±3)cm,(6±4) cm,(5±3)cm,7,19,30,175 in the laparoscopic group,respectively;there was no significant difference in above indicators between the two groups (x2 =0.200,2.459,t =-1.212,-1.074,-0.420,-1.236,Z =0.171,P＞ 0.05).The volume of i ntraoperative blood loss,number of lymph nodes dissected in total gastrectomy,number of lymph nodes dissected in distal subtotal gastrectomy were (126±113)mL,45±14,and 36±18 in the robotic group,and (149±132) mL,39±14,30± 16 in the laparoscopic group,showing statistically significant differences between the two groups (t=-2.093,3.275,2.195,P＜0.05).(2) Postoperative situations:the time to recovery of gastrointestinal function,time of postoperative abdominal drainage tube removal,and hospitalization cost in the robotic group were (2.6 ± 0.6)days,(5.7± 1.2) days,and (100 157±44 888) yuan,respectively.The above indices of the laparoscopic group were (3.1±0.7)days,(7.0±3.0)days,and (82 220± 18 941)yuan,respectively.There were statistically significant differences between the two groups (t =-5.371,-3.212,5.603,P ＜ 0.05).The duration of postoperative hospital stay was (12±6)days in the robotic group and (12±6)days in the laparoscopic group,with no significant difference between the two groups (t =0.755,P＞ 0.05).Eighteen out of 472 patients had complications.There were 3 cases of anastomotic leakage in the robotic group,2 cases of gastroplegia,1 case of duodenal stump,and 1 case of pulmonary infection,with a incidence of postoperative complication as 2.90％ (7/241).There were 4 cases of anastomotic leakage in the laparoscopic group,1 case of gastroplegia,1 case of duodenal stump,and 3 cases of pulmonary infection,with a incidence of postoperative complication as 3.90％ (9/231).There was no statistically significant difference in the incidence of postoperative complication between the two groups (x2 =1.503,P ＞ 0.05).Patients with digestive tract fistula were re-explored and performed continuous flushing-negative pressure aspiration and nutritional support treatment,and then discharged after improvement.Patients with gastroplegia and lung infection were discharged after corresponding conservative treatment.(3) Follow-up and survival:404 out of 472 patients were followed up for 7-31 months,with a median follow-up time of 19 months,including 212 in the robotic group and 192 in the laparoscopic group.The 3-year survival rates were 96.70％ and 91.67％ in the robotic group and laparoscopic group,with no statistically significant difference between the two groups (x2=1.037,P＞0.05).During the follow-up,the tumor-beating survival rate and mortality of tumor recurrence of the robotic group were 0.47％ and 2.36％,respectively,versus 1.04％ and 6.77％ of the laparoscopic group,with statistically significant differences between the two groups (x2 =3.198,4.208,P＜0.05).Conclusion The Da Vinci robot-assisted radical gastrectomy for gastric cancer is safe and effective,which can reduce volume of intraoperative blood loss,shorten the postoperative recovery time,increase the number of lymph node dissection,however,it will increase the treatment expense.

To investigate the molecular mechanism of lncRNA-HCG11 promoting progression and metastasis of colorectal cancer (CRC) via up-regulating zinc finger E box binding homeobox 1 (ZEB1) by regulating miR-144-3p expression in CRC. Methods:Atotal of 78 pairs of CRC tissues and corresponding adjacent tissues were obtained from patients in Department of Colorectal Surgery, Cancer Hospital of Yunnan Province during January 2013 and January 2018. HCG11 expression level in CRC cell lines and tissues was determined by qPCR; HCG11-knockdown vector, miR-144-3p mimic and miR-144-3p inhibitor were constructed and transfected into CRC cells lines (SW480 and SW620); and then, cell viability was detected by using CCK-8 assay and colony formation assay, while cell migration and invasion was assessed by using transwell assay; the expression levels of ZEB1 and epithelial mesenchymal markers (E-cadherin, Vimentin, ɑ-catenin, Sox2, Nestin, Oct4 and Nanog) were detected by Wb and immunofluorescence assay; and the relationship between HCG11, miR-144-3p and ZEB1 was validated by dual-luciferase reporter gene assay. Nude mice xenograft model was constructed and the effect of HCG11 knock-down on the growth of xenograft was evaluated. Results: The expression of HCG11 was significantly higher in CRC cell lines (all P<0.05) and tissues (P<0.01) compared with that in normal colon epithelial cells and para-cancerous tissues; HCG11 expression was closely related with cancer metastasis, clinical staging and prognosis of CRC patients (all P<0.05). Knockdown of HCG11 significantly inhibited cells proliferation, migration, invasion, epithelial-mesenchymal transition and CRC stem cell formation (all P<0.05). Moreover, knockdown of HCG11 significantly up-regulated miR-144-3p expression (P<0.05), while over-expression of miR-144-3p significantly inhibited ZEB1 expression (P<0.05) and reduced dual-luciferase activity (P＜0.05). Conclusion: HCG11 regulates miR-144-3p to up-regulate ZEB1 expression, and further promotes CRC progression and metastasis; therefore, HCG11 could be used as a target for clinical diagnosis and treatment for CRC.

Objective: To explore the application value of early postoperative enteral eco-immune nutrition in the nutritional support treatment for intra-abdominal infection. Methods: The prospective study was conducted. The clinicopathological data of 62 patients with intra-abdominal infection who were admitted to the 940 Hospital of the People′s Liberation Army Joint Service Support Force from February 2018 to December 2018 were collected. All patients were randomly divided into two groups by the envelope method with double-blind technique, including patients who began being given enteral eco-immune nutrition preparation at postoperative 24-48 hours in eco-immune group and patients who began being given simple enteral nutrition preparation at 24-48 hours in control group. Observation indicators: (1) analysis of immune function indices before treatment and after 7 days of treatment in the two groups; (2) postoperative conditions in the two groups; (3) follow-up. Follow-up using telephone interview was performed to detect complications and recurrence of infection up to May 2019. Measurement data with normal distribution were represented as Mean±SD, and intra-group comparison and comparison between groups were analyzed using the t test. Count data were represented as absolute numbers or percentages, and comparison between groups was analyzed using the chi-square test. Results: Sixty-two patients were screened for eligibility, including 38 males and 24 females, aged (54±14)years, with the range of 22-81 years. There were 30 in the eco-immune group and 32 in the control group. (1) Analysis of immune function indices before treatment and after 7 days of treatment in the two groups: before treatment, the percentages of CD3⁺, CD4⁺, CD8⁺, ratio of CD4⁺ /CD8⁺, count of natural killer (NK) cells, levels of blood endotoxin and immunoglobulin A (IgA) for the eco-immune group were 61%±12%, 34%±5%, 28%±5%, 1.25±0.34, 17.26%±2.74%, (2.4±0.3)ng/L, and (1.7±0.5)g/L, versus 59%±11%, 33%±5%, 27%±4%, 1.27±0.36, 16.96%±2.99%, (2.5±0.5)ng/L, (1.8±0.5)g/L for the control group, respectively, there were no significant differences between the two groups (t=-0.563, -0.354, -0.987, 0.327, -0.462, 0.887, 0.991, P>0.05). After 7 days of treatment, the above indices for the eco-immune group were 62%±8%, 37%±6%, 27%±8%, 1.45±0.32, 22.63%±7.25%, (2.2±0.4)ng/L, and (2.3±0.4)g/L, versus 58%±8%, 32%±4%, 27%±6%, 1.26±0.22, 16.26%±2.10%, (2.7±0.6)ng/L, and (2.0±0.4)g/L for the control group, respectively, there were significant differences in the percentages of CD3⁺, CD4⁺, ratio of CD4⁺ /CD8⁺, count of NK cells, levels of blood endotoxin and IgA (t=-2.393, -4.336, -3.074, -5.338, 4.010, -3.155, P<0.05), but no significant difference in the percentage of CD8⁺ between the two groups (t=0.077, P>0.05). In the eco-immune group, the percentage of CD4⁺, ratio of CD4⁺ /CD8⁺, count of NK cells, levels of blood endotoxin and IgA showed significant differences after 7 days of treatment (t=-2.899, -2.739, -4.385, 2.157, -5.788, P<0.05), but the percentages of CD3⁺ and CD8⁺ showed no significant differences after 7 days of treatment (t=-0.490, 1.193, P>0.05). In the control group, the percentage of CD8⁺ and level of IgA showed significant differences after 7 days of treatment (t=3.659, -2.258, P<0.05), but the percentage of CD4⁺, ratio of CD4⁺ /CD8⁺, count of NK cells, and level of blood endotoxin showed no significant differences after 7 days of treatment (t=0.157, 0.759, 1.132, 1.212, -0.532, P>0.05). (2) Postoperative conditions in the two groups: the time to first flatus and duration of postoperative hospital stay of the eco-immune group were (2.4±0.5)days and (8±4)days, respectively, versus (2.9±0.7)days and (11±7)days of the control group; there were significant differences in the above indices between the two groups (t=-3.017, -2.764, P<0.05). In the eco-immune group, the incidence of complication was 6.7%(2/30), including 1 case of wound infection, 1 case of pulmonary infection. In the control group, the incidence of complication was 31.2%(10/32), including 6 cases of wound infection, 2 cases of pulmonary infection, 1 case of intra-abdominal infection, and 1 case of systemic inflammatory response syndrome. There was a significant difference in the incidence of complication between the two groups (χ²=4.122, P<0.05). The patients with infection were recovered after corresponding systematic conservative treatments. (3) Follow-up: of the 62 patients, 46 were followed up for 3-9 months, with a median follow-up time of 6 months, including 26 in the eco-immune group and 20 in the control group. During the follow-up, no complication or infection recurred in the two groups. Conclusion Compared with simple enteral nutrition, early postoperative enteral eco-immune nutrition in the nutritional support treatment is safe and effective for patients with intra-abdominal infection, which can enhance the immune function of patients, shorten the recovery time of patients, and reduce the incidence of infection complications.

Objective To measure plasma microRNAs dysregulated in patients with pancreatic cancer and to assess the potential of these miRNAs as biomarkers for pancreatic cancer.Methods Thirty-seven patients with pancreatic cancer who underwent pancreatic resection between June 2010 to July 2011 were enrolled in the Lihuili Hospital,and ten healthy volunteers were used as control in this study.The expression levels of miR-190,miR-196a,miR-221 and miR-222 were analyzed using quantitative real time polymerase chain reaction (qRT-PCR).U6 was used as an internal control.The relationships between clinicopathoiogic characteristics of pancreatic cancer and microRNA expression levels were analyzed.Results The relative abundances of plasma microRNAs were significantly higher in pancreatic cancer patients than in the control group.The highly expressed plasma miR-190,miR-196a,miR-221,miR-222 levels did not correlate with clinicopathologic characteristics of patients such as sex,age,tumor maximal diameter,and level of serum CA199.The plasma miR-196a levels showed a positive correlation with TNM stage in pancreatic cancer patients.Conclusions The plasma levels ofmiR-190,miR-196a,miR-221 and miR-222 were highly upregulated in pancreatic cancer patients.These microRNAs in plasma may provide a new method in the early diagnosis of pancreatic cancer.

Objective To investigate the availability and strategy of breast reconstruction for patients with caesarotomy scar using pedicled TRAM flap.Methods From January 2007 to May 2011,12 cases of breast reconstruction with caesarotomy scar were carried out with pedicled TRAM flaps.All the patients that were classified as the class Ⅱ that was 0.5 or less by score were operated on by using the inverted trapezoid incision,of which the upper edge was 2 or 3 cm down to the umbilicus.Double pedicles were adopted for the patient with the longest vertical scar; single pedicle of the breast contralateral side and the muscle sheath of the breast ipsilateral side were harvested for the rest of the patients.A synthetic mesh was used for the enforcement of the muscle and sheath defect.Results No flap necrosis or abdominal complications were observed.With the follow-up from 3 months to 4 years and 4 months,the overall satisfactory rate was 100 ％.Conclusions The strict patient selection and the operating strategy are the keys to the successful breast reconstruction for patients with caesarotomy scar using pedicled TRAM flap.

Objective To discuss the differences of the types of cerebral palsy and the comorbidity between premature and full-term infants. Methods 233 children with cerebral palsy were divided into premature group (n=98) and full-term group (n=125). The types of cerebral palsy and the complications were analyzed. Results The high risk factors were low birth weight, jaundice, asphyxia, intracranial hemorrhage and cord around neck in sequence in the premature group, and were asphyxia, jaundice, fetal distress, intracranial hemorrhage and intrauterine infection in sequence in the full-term group. Besides auditory handicap. The frequency of spastic diplegia was higher in the premature group than in the full-term group (P<0.001), and the incidence of spastic hemiplegia was higher in the full-term group than in the premature group (P<0.01). There was no significant difference in dysgnosia, epilepsy and visual disturbance (P>0.05), but auditory handicap (P<0.05) between 2 groups. Conclusion The main clinical types of premature and full-term children with cerebral palsy were spastic diplegia and spastic hemiplegia respectively. The prevalence of auditory handicap was higher in preterm children

In order to clarify the chemical constituents in Qiliqiangxin capsule, a rapid ultra-performance liquid chromatography/orthogonal acceleration time-of-flight mass spectrometry (UPLC-Q-TOF/MS(E)) method was established. Forty peaks were identified on line using this method. The herbal sources of these peaks were assigned. The results implied that triterpenoid saponins, flavonoid glycosides, C21-steroids and phenolic acids were included in the main components of Qiliqiangxin capsule. The method is simple and rapid for elucidation of the constituents of Qiliqiangxin capsule and the results are useful for the quality control of Qiliqiangxin capsule.

Objective To report the clinical result of repairing complex tissue defect in limb caused by traffic accident using both tissue flap transplantation and external fixer. Methods The vascular tissue flap including bone flap and muscular flap to repair the complex tissue defection(soft tissue, bones, joints) in forearm, hand, leg, ankle and foot were applied in 36 cases. At the same time in surgery, injured bones and joints were fixed by external fixer for stabilizing and accelerating cure. Results All 56 eases were applied successfully with transplanted tissue combined with external fixation. The external fixers were moved away about 10-16 weeks(upper extremity) or 6-8 months(lower extremity) later and all the cases recovered satisfactorily. Conclusion It is a reliable method for repairing the complex tissue defection in the limb caused by traffic accident by external fixer of traumarology and microsurgery technique. And it is also characterized as a minor injury method on transplanted bones, enables early exercise for joints, convenient observation of flap circulation and easy nursing.

Objective: Blue dye was one of the methods for sentinel lymph node biopsy in breast cancer, but the success rate was affected by multiple factors. This study was to determine the related factors contributing to the success of sentinel lymph node biopsy in breast cancer using blue dye method. Method:From Jan. 2007 to Aug.2008, sentinel lymph node biopsy was performed by periareolarly injecting 1% methylene blue in 141 breast cancer patients followed by axillary clearance. Pathological diagnosis was performed for all of the lymph nodes by conventional HE staining. Unconditional logistic regression was applied to make both univariate and multiva-riate analysis. Results:Sentinel lymph node was successfully detected in 126 patients. But the biopsy was failed in the 15 patients. The success rate was 89.4% and the false negative rate was 6.82%. Univariate analysis showed that success rate of biopsy was in association with patients' age, body mass index (BMI), tumor size, preoperative axillary node's status, pathological grade as well as ≥4 positive axillary lymph nodes involved. Multivariate analysis indicated that the patients'age (OR=4.587, P=0.024), BMI (OR=4.882, P=0.011) as well as 4 or more of the axillary nodes involved (OR=3.143, P=0.013) were independent predicting factors for the success of sentinel lymph node biopsy. Conclusions:Methylene blue dyeing is a reliable method for sentinel lymph node biopsy. The rate of success is associated with patients' age, BMI as well as the number of metastases in axillary lymph nodes.