Objective To explore factors related to the development of segmental instabilities in lumbar spine. Methods Fifty-seven patients with lumbar segment instabilities at L 4～5 were selected as illness group, 22 patients with facetectomy at L 4～5 as post-operation control group, and 19 healthy subjects as normal control. X-ray plain films were taken in sagittal,flexion and extension positions. Computed tomographic scans were taken to define the axial morphology of the facet joint. Magnetic resonance scans were taken to describe disc degeneration of 36 patients in illness group. Results The facet joint was oriented sagittally in the forward translation patients in flexion. The disc degeneration was slight in the rotational instability patients. The patients with total facetectomy exited forward translation in flexion. Conclusion A more sagittally oriented facet and disc degeneration are associated with forward translation in flexion and may be the cause of degenerative spondylolisthesis, whereas ligament failure is associated with rotational instability.

Objective To study the safety and feasibility of laparoscopic total splenectomy (LTS) and laparoscopic partial splenectomy (LPS) in the diagnosis and treatment of benign splenic tumors by comparing the perioperative and follow-up data between these two operative approaches.Methods We retrospectively analyzed the clinical data of 57 patients who underwent laparoscopic surgery for benign splenic tumors from December 2009 to April 2016.These patients were divided into the LTS and the LPS groups.The clinical data including the preoperative,intraoperative,postoperative and follow-up data were analyzed.Results When compared with the LPS group,the LTS group had shorter operation time [(97.0 ± 22.1)min vs.(135.0 ± 24.6) min,P ＜ 0.05] and less blood loss [(33.3 ± 19.5) min vs.(90.6 ± 55.1)min,P ＜ 0.05],but there were no significant differences between the two groups in the length of hospital stay,the duration of drainage tube placement,the amount of postoperative analgesics as well as the incidences of pulmonary infection,postoperative pancreatic fistula and other complications after surgery.These incidences were low in the two groups.Conclusion Laparoscopic surgery,including LTS and LPS,were safe and feasible in treating benign splenic tumors.

cholesterol 7α-hydroxylase gene ( CYP7A 1 ) plays a key role in the catabolism of cholesterol into bile acids. To investigate whether the A-204C polymorphism in CYP7A1 gene affects the gene expression,using luciferase as the reporter gene, four recombinants were constructed by inserting forward or reverse sequence with A or C allele at the polymorphism site into the promoter-less vector pGL3-basic. The constructs were then transfected into four cell lines and the luciferase activity of each expression vector was examined by dual luciferase reporter gene assay system. The results showed that activities of the forward sequence of both genotypes were higher than that of reverse sequence. Promoter activity of the recombinants with A allele was about one third lower than that with C allele. According to the analysis with TRANSFAC database, there may exist a Zic3 binding site when there is the C allele at -204. Our study indicates that the A-204 C polymorphism in CYP7A1 promoter region decreases its promoter activity and thus represses the gene expression, possibly due to the lack of a potential Zic3 binding site.

Objective To evaluate the application of cough reflex testing with various concentrations of citric acid for dysphagia post stroke. Methods 20 normal controls (NC), 20 stroke patients with dysphagia (SD) and 20 stroke patients without dysphagia (SND) were tested with cough reflex inhalated 4 kinds of dosage of citric acid: 0.2 mol/L, 0.4 mol/L, 0.6 mol/L and 0.8 mol/L. Results The incidence of pass (coughed twice or more) decreased in the SD compared with those in the NC as inhalated citric acid of 0.2 mol/L and 0.4 mol/L (P< 0.05), and decreased under 0.4 mol/L compared with the SND (P<0.05). There was no significant difference between the SND and the NC (P>0.05). 90% of the NC passed as inhalated citric acid of 0.4 mol/L; however, it was 45% in the SD, and increased when they inhalated more dosage of citric acid (P<0.05). The incidence of pass decreased under 0.2 mol/L citric acid in the SND compared with other concentration (P<0.05). The result of the test was reliable interrater (κ=0.97). The incidence of cough was consistent of 96.8% with the same concentration. No asthma and asphyxia was observed. Conclusion Cough reflex testing with citric acid inhalation can be used to assess the defensive function of airway in lower concentration for dysphagia after stroke.

OBJECTIVE: To determine the size and origin of a small supernumerary marker chromosome (sSMC) identified in a patient featuring developmental retardation. METHODS: High-throughput sequencing for copy number variation (CNV-seq) was carried out to delineate the sSMC identified upon G-banded chromosomal karyotyping. The genotype-phenotype correlation was explored by database retrieval and literature analysis. RESULTS: The patient was found to have a karyotype of mos 47,XX,+mar[36]/46,XX[23]. CNV-seq has identified a 18 Mb duplication at 5p14.1-p12 (hg19: 27,399,261-46,083,784)x2.6 with a mosaicism rate of approximately 60%. CONCLUSION Patients with mosaic partial trisomy 5p may have extensive clinical manifestations, and the ratio of trisomy 5p cells is correlated with clinical severity of this syndrome.

Objective To investigate the safety of the laparoscopic pancreaticoduodenectomy (LPD) in 70 years of age or older patients.Methods The retrospective cohort study was conducted.The clinicopathological data of 40 patients (age ≥70 years old) who underwent pancreaticoduodenectomy in the West China Hospital of Sichuan University between January 2012 and December 2016 were collected.Twenty patients undergoing LPD were allocated into the LPD group,and 20 receiving open pancreaticoduodenectomy (OPD) who were selected by random number table during the same period were allocated into the OPD group.Observation indicators included:(1) intraoperative situations;(2) postoperative situations;(3) follow-up situation.Follow-up using outpatient examination and telephone interview was performed to detect the patients' survival after discharge and tumor recurrence and metastasis up to March 2017.Measurement data with normal distribution was represented as x±s,and comparison between groups were evaluated with the t test.Measurement data with skewed distribution were described as median (range) and comparison between groups was analyzed using the nonparametric test.Comparison of count data was analyzed using the chi-square test.Comparison of ranked data was analyzed by non parametric test.Results (1) Intraoperative situations:1 patient in the LPD group was converted to open surgery,with a conversive rate of 5.0％ (1/20).Operative time and volume of intraoperative blood loss were (463 ± 10) minutes,210.5 mL (152.5-300.0 mL) in the LPD group and (332± 25) minutes,420.0 mL (350.1-493.8 mL) in the OPD group,showing statistically significant differences between the 2 groups (t =5.48,Z =-3.98,P＜0.05).Cases with intraoperative blood transfusion and pylorus preservation were respectively 4,14 in the LPD group and 6,10 in the OPD group,showing no statistically significant difference between the 2 groups (x2=0.53,1.67,P＞0.05).The results of intraoperative rapid frozen pathological examination showed negative margin of the 40 patients.(2) Postoperative situations:cases in ICU,cases with postoperative analgesia,time for out-of-bed activity,time to anal exsufflation and time for intake were 17,7,(2.2±0.7)days,(4.2± 0.9)days,(4.8±0.7)days in the LPD group and 6,15,(3.6±0.8)days,(5.7±0.9)days,(7.1 ± 2.7)days in the OPD group,showing statistically significant differences between the 2 groups (x2 =12.34,6.47,t=-6.18,-6.55,-3.65,P＜0.05).Pancreatic fistula,delayed gastric emptying (Grade B),postoperative bleeding (Grade B),biliary fistula,pulmonary infection,intestinal obstruction,wound infection,reoperation and major complication were respectively detected in 2,3,1,1,3,1,0,2,3 patients of the LPD group and 2,4,1,1,4,1,2,3,4 in patients of the OPD group,showing no statistically significant difference between the 2 groups (x2 =0.00,0.17,0.00,0.00,0.17,0.00,2.11,0.23,0.17,P＞0.05).Results of postoperative pathological examination showed that duodenal adenocarcinoma,ampullary carcinoma,lower bile duct carcinoma,pancreatic ductal adenocarcinoma and pancreatic cystic tumor were respectively detected in 8,2,5,3,2 patients of the LPD group and 10,2,4,2,2 patients of the OPD group,showing no statistically significant difference between the 2 groups (x2 =0.53,P＞0.05).Duration of postoperative hospital stay in the LPD and OPD groups were (19± 13) days and (15±7) days,respectively,showing no statistically significant difference between the 2 groups (t =1.28,P＞ 0.05).Results of postoperative oncology showed that tumor diameter,number of lymph node dissected,number of positive lymph nodes,cases with negative margin,cases in T1N0M0,T2N0M0,T3N0M0,T3N1M0,T4N0M0,T4N1M0 of TNM staging were respectively (2.4±0.7)cm,15.4±2.3,2,20,2,7,8,2,1,0 in the LPD group and (2.8±0.9)cm,14.4±2.5,3,20,1,8,5,2,3,1 in the OPD group,with no statistically significant difference between the 2 groups (t =-1.64,1.32,x2 =0.23,0.00,Z =-0.69,P＞ 0.05).(3) Follow-up situation:1 patient died respectively in both groups within the postoperative 30 days.Thirty-eight patients were followed up for 1-26 months,with a median time of 14 months.During follow-up,2 patients had tumor recurrence and 1 died of myocardial infarction in the LPD group;3 had tumor recurrence and 1 died of tumor recurrence in the OPD group.Conclusion LPD in 70 years of age or older patients is not only safe and feasible,but also significantly reduce volume of intraoperative blood loss and demand of analgesia,as well as quickly resume normal diet and activities.

Objective:To investigate the genetic etiology of a pedigree with autosomal recessive congenital ichthyosis.Methods:Whole-exome sequencing was performed in a collodion baby, and Sanger sequencing was conducted to verify gene mutations. The PolyPhen-2, PROVEAN and Mutation Taster softwares, as well as protein homology modeling methods, were used to predict effects of gene variants; real-time fluorescence-based quantitative PCR and Western blot analysis were performed to analyze the effect of mutations on allelic mRNA and protein expression.Results:Whole-exome sequencing and Sanger sequencing confirmed a mutation c.919C>T (p.Arg307Trp) in exon 6 and a mutation c.1019G>A (p.Gly340Glu) in exon 7 of the TGM1 gene in the infant, which were inherited from his mother and father respectively. Bioinformatics analysis suggested that both the two mutations were harmful to protein structures, which were further supported by protein homology modeling. In vitro experiments showed that there was no significant difference in the mRNA expression of the TGM1 gene between the 293T cells transfected with wild-type plasmids and those transfected with mutant plasmids containing the mutation c.919C>T or c.1019G>A ( t=1.97, 1.28, P=0.12, 0.27, respectively) , but the TGase1 protein expression significantly decreased in the 293T cells transfected with the mutant TGM1 plasmids. Conclusion:The mutations c.919C>T and c.1019G>A in the TGM1 gene may be the molecular genetic etiology of severe ichthyosis in the infant, and the missense amino acids encoded by the two mutations may affect the TGase1 protein function by destroying its structure.

OBJECTIVE: To provide genetic counseling for a couple with recurrent detection of fetal structural abnormality during second trimester pregnancy. METHODS: The fetal tissue and peripheral blood samples of the couple were subjected to G banded chromosomal analysis, copy number variation sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) assays. RESULTS: CNV-seq has detected a 6.59 Mb duplication at 7p22.3-p22.1 and a 3.81 Mb deletion at 4p16.3 in the fetal tissue, though conventional karyotyping results of both parents were normal. FISH has confirmed that the father has harbored a cryptic translocation of t(4;7)(7p+,4q+,4p+,7q+). CONCLUSION The ultrasonographic abnormality of the fetuses may be attributed to the 7p microduplication and 4p microdeletion derived from the cryptic translocation carried by the father. Reciprocal translocation of tiny chromosomal segments should be suspected for couples with recurrent adverse pregnancies but apparently normal karyotypes.
Chromosome Disorders ; DNA Copy Number Variations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Translocation, Genetic

Objective To investigate doctors'knowledge and differences in islet function assessment methods in China.Methods This is a cross-sectional study that conducted by online questionnaire survey.Demographic data,examination items,blood collection point of OGTT,detection method,kit type and follow-up frequency were collected and compared among doctors in different regions,different levels of hospitals,different specialties and different titles.Results 79.2%and 85.1%of physicians believed that the levels of insulin and C-peptide should be measured at the same time to assess islet function in patients with newly diagnosed and follow-up diabetes mellitus patients.Endocrinologists preferred to access insulin and C-peptide at the same time(P<0.05).56.0%of physicians chose bread meal test for T1DM patients and 54.7%for T2DM patients.Compared with non-specialists,endocrinologists preferred to commit bread meal test to T1DM patients(61.4%vs 41.0%,P<0.05).In addition,for the islet function assessment of new-onset diabetes patients,7.6%of physicians chose the six-point method(0,30,60,90,120,180 min),27.3%selected the five-point method I(0,30,60,120,180 min),8.5%selected the five-point method II(0,30,60,90,120 min),9.8%selected the four-point method I(0,30,60,120 min),10.3%selected the four-point method II(0,60,120,180 min),13.8%chose the three-point method(0,60,120 min)and 13.4%chose the two-point method(0,120 min).At the time of follow-up assessment,the above selection rates were 5.3%,20.4%,6.4%,6.6%,9.4%,15.8%and 24.1%,respectively.In terms of the frequency of assessment,39.2%of doctors assessed islet function once a year and 24.7%once every six months.Specialists preferred to assess islet function once a year,and physicians with senior titles chose to assess islet function more variably.Conclusion At present,there are still great differences in assessment methods of islet function in China.It is of great significance for the clinical diagnosis and treatment of diabetes to understand the differences in the selection of islet function assessment methods among doctors in different regions,specialties and job titles.