Objective To discuss the predictable factors for the occurrence of intraoperative aneurysm rupture(IAR) of anterior circulation aneurysm treated by clipping.Methods The clinical data of 96 patients with 115 aneurysms treated by clipping were retrospectively analyzed.The univariate analysis and Logistic regression analysis was performed for the risk factors of IAR such as history of hypertension,pre-operative Hunt-Hess scale,aneurysm location,aneurysm sac,aneurysm dome/neck ratio,aneurysm direction,and operation time.Results Twenty-one patients occurred IAR [18.3 ％ (21/115) of aneurysms,21.9％ (21/96) of patients] during the operation,2 patients died and 94 patients were estimated by Rank scale:0 score was for 66 patients,2 scores was for 10 patients,3 scores was for 6 patients,4 scores was for 4 patients,5 scores was for 6 patients and 6 scores was for 2 patients at 6 months after surgery.Statistic analysis revealed that history of hypertension (P =0.037),pre-operative Hunt-Hess scale (P =0.040),aneurysm direction (P =0.009),aneurysm sac (P =0.010),operation time (P =0.001) and aneurysm dome/neck ratio (P =0.029) were the predictable factors for the occurrence of IAR,while aneurysm location was not included (P =0.198).Conclusion The history of hypertension,pre-operative Hunt-Hess scale,aneurysm direction,aneurysm sac,operation time and aneurysm dome/neck ratio 1.78-2.89 are the predictable factors for the occurrence of IAR and the combination of various factors lead to the occurrence of IAR.

Objective To explore the efficacy and complication of total hip arthroplasty in the treatment of ankylosing spondylitis hip joint ankylosis,and analyze its prognosis.Methods Eighty-two patients with ankylosing spondylitis hip joint ankylosis were divided into observation group and control group by random digits table method,the 42 patients in observation group were given total hip arthroplasty after the diagnosis of early,the 40 patients in control group were given delayed total hip arthroplasty.In the 2 groups,the recovery of hip joint function were observed,postoperative complication were recorded,and the 5-year survival rate situation were followed up.Results The activity of hip joint,degree of hip joint flexion and Harris score after operation in the 2 groups were significantly better than those before operation,there were statistical differences (P ＜ 0.05),the indexes after operation in observation group were significantly better than those in control group [activity of hip joint:175.25° ± 15.52° vs.122.95° ± 16.26° ; degree of hip joint flexion:85.65° ± 5.33° vs.70.78° ± 4.97° ;Harris score:(86.08 ± 5.41) scores vs.(73.92 ± 6.62)scores],there were statistical differences (P ＜ 0.05).Infection occurred in 1 case,dislocation in 0 case,prosthesis loosening in 2 cases in observation group,the rate of complication was 7.14％(3/42).Infection occurred in 5 cases,dislocation in 2 cases,prosthesis loosening in 4 cases in control group,the rate of complication was 27.50％ (11/40).The rate of complication in observation group was significantly lower than that in control group,there was statistical difference (x2 =8.34,P＜ 0.01).The 1,3-year survival rate in observation group was higher than that in control group,but there was no statistical differences (P ＞ 0.05).The 5-year survival rate in observation group was significantly higher than that in control group [90.48％(38/42) vs.70.00％ (28/40)],there was statistical difference (x2 =7.57,P ＜ 0.01).Conclusion Early total hip arthroplasty has significantly clinical effects in the treatment of patients with ankylosing spondylitis hip joint ankylosis,and its early operation curative effect is better than that of delayed operation.

Objective To understand family function ,social support ,preoperative anxiety and depression status among elder‐ly operative patients ,and to explore their relationship .Methods 295 elderly preoperative patients were investigated by family AP‐GAR index (APGAR) ,social support rating scale (SSRS) ,self‐rating anxiety scale (SAS) and self‐rating depression scale(SDS) , descriptive and inferential analysis .Results Among 295 elderly preoperative patients ,there were 208 people with good family func‐tion ,accounting for 70 .51% ,67 people with moderate disability family function ,accounting for 22 .71% ,and 20 people with severe disability family function ,accounting for 6 .78% ;The total score of social support was 40 .42 ± 9 .03 and the scores of subjective support was 23 .32 ± 5 .42 ,objective support with 9 .45 ± 3 .73 and support availability with 7 .65 ± 1 .86 ;152 people were preoper‐ative anxiety ,accounting for 51 .53% ,98 people were preoperative depression ,accounting for 33 .22% .The rate of anxiety and de‐pression good family function group was lower than a family dysfunction group(P<0 .05) .The incidence of depression high social support group is higher than low group (P<0 .05);Among the scores of social support ,subjective support ,objective support and support availability ,we find that patients with family well‐functioning group was higher than patients with family dysfunction group (P<0 .05) .Multiple logistic regression analysis showed that influence factors of preoperative psychological abnormality had educa‐tion level ,whether the tumor diseases ,the total score of social support and family functioning condition .Conclusion Elderly preop‐erative patients have anxiety and depression to a certain extent .The anxiety and depression of patients were related to the family function and social support .We Should pay attention to the effect of farmily function and social support on mental health of elderly patients with operation ,and effective use .

Objective To investigate the association of single nucleotide polymorphisms (SNPs) in COX-2 with aspirin resistance in Chinese cerebral infarction patients. Methods A total of 150 Chinese cerebral infarction patients were recruited. Platelet aggregation response was measured by light transmission aggregometry method and four SNPs located in COX2 gene were genotyped by sequencing method. Results Sixty patients of the total were classified as aspirin non-responders. For clinical variables , concentrations of high homocysteine and the frequency of recurrence cerebral infarction were significantly higher in aspirin non-responders when compared with aspirin responders. Univariate analysis of SNPs showed that rs20417 , rs689465 and rs689466 were significantly associated with aspirin resistance. Multivariate analysis indicated that after adjusting other SNPs and clinical risk factors, rs20417 and rs689466 were still significantly associated with aspirin resistance. Conclusions Rs689466 is significantly associated with aspirin resistance in Chinese cerebral infarction patients even after the adjustment of rs20417. By combining rs689466 , rs20417 and other clinical risk factors , we may better classify the aspirin non-responders from aspirin responders.

[ ABSTRACT ] AIM: To characterize the phenotypic and genetic features of a patient with Lowe syndrome. METHODS:The clinical data and the MRI of a ten-month-old patient were analyzed.At the same time, all exons of the OCRL gene of the patient and his parents were amplified and Sanger-sequenced.RESULTS:Clinical analysis revealed that the patient has abnormal vision, nystagmus, congenital cataract, hypotonia, proteinuria, hematuria and psychomotor retar-dation.MRI showed white matter myelination delay, bilateral frontal and temporal dysplasia, and subarachnoid cavity en-largement.The results of PCR and Sanger sequencing detected a de novo mutation, NM_000276.3: c.1280-1281delTT (p.Cys428Hisfs*2), a deletion causing a frame shift.To our knowledge, this mutation in OCRL gene has not been repor-ted previously.CONCLUSION:The clinical manifestations suggested a phenotype of Lowe syndrome, and molecular ge-netic testing confirmed the diagnosis.The novel de novo mutation enriches the OCRL mutation spectrum.

Objective To investigate the effect of phosphatidylinesitol-3 kinase/serine threonine kinase (PI3K/Akt) signaling pathway on expression of beta-site amyloid precursor protein cleaving enzyme-1 (BACE1) in the hippocampus neurons of rat brain. Methods Forty SD rats were randomly divided into 4 groups: blank control group, sham-operated group, insulin group and wortmannin group. Insulin or the specific inhibitor of PI3K, wortmannin was injected into hippocampus neurons to activate or inhibit the signaling pathway in insulin group or wortmannin group, respectively. Immunoprecipitation and Western blot were used to analyze the proteins levels of PI3K/Akt and BACE1. Results In insulin treatment group,among the proteins downstream of signaling pathway, expression of Akt increased (0. 952±0.060 vs 0.835±0.029,t=4.9150, P=0.0001), phospho-Akt set473 increased (0.800±0.075 vs 0.657± 0.025,t=4.5598, P=0.0002), phospho-GSK-3α decreased (0.604±0.062 vs 0.726±0.041, t= 3.5871, P=0.0018 ), and the expression of mature BACE1 and β-CTF significantly decreased. In wortmannin group, the expression of Akt and phospho-Akt ser473 were inhibited; phospho-GSK-3α increased ; mature BACEI (1.004±0.096) and β-CTF (1.031±0.048) increased (t=11.5980, P= 0.0000 and t =4.2194, P =0.0004, respectively). Conclusions PI3K/Akt signaling pathway might effect the expression of BACE1, in which impaired signaling pathway may cause the amyloid precursor protein to be easily processed by BACE1, and thus involves the pathology of Alzheimer' s disease.

ObjectiveTo discuss the more aesthetic and minimally invasive surgical approach of endoscopic thyroidectomy.Methods50 cases of endoscopic thyroidectomy via breast areola-axillary approach were retrospectively analyzed.Among these cases,12 received unilateral partial lobectomy,30 received unilateral total lobectomy and 8 received bilateral partial lobectomy.Results Endoscopic thyroidectomy was completed in all the patients.The intraoperative blood loss was ( 12.77 ± 20.12 ) ml.The operation time was (67.00 ± 21.28 )min.The postoperative hospital stay was (3.77 ± 0.50)days.Hoarseness occurred in 2 cases.All the 50 cases were followed up from 1 to 6 months and no other complication occurred.ConclusionEndoscopic thyroidectomy via breast areola-axillary approach is more aesthetic and minimally invasive; however,the operator needs an adaptive process for a better surgical view angle.

Type 1 diabetes mellitus (T1D) is an immune-mediated disease. The autoreactive T cells in T1D patients attack and destroy their own pancreatic cells. In order to systematically investigate the potential autoreactive T cell receptors (TCRs), we used a high-throughput immune repertoire sequencing technique to profile the spectrum of TCRs in individual T1D patients and controls. We sequenced the T cell repertoire of nine T1D patients, four type 2 diabetes (T2D) patients and six nondiabetic controls. The diversity of the T cell repertoire in T1D patients was significantly decreased in comparison with T2D patients (P = 7.0E
08 for CD4+ T cells, P = 1.4E
04 for CD8+ T cells) and nondiabetic controls (P = 2.7E
09 for CD4+ T cells, P = 7.6E
06 for CD8+ T cells). Moreover, T1D patients had significantly more highly-expanded T cell clones than T2D patients (P = 5.2E
06 for CD4+ T cells, P = 1.9E
07 for CD8+ T cells) and nondiabetic controls (P =1.7E
07 for CD4+ T cells, P= 3.3E
03 for CD8+ T cells). Furthermore, we identified a group of highly-expanded T cell receptor clones that are shared by more than two T1D patients. Although further validation in larger cohorts is needed, our data suggest that T cell receptor diversity measurements may become a valuable tool in investigating diabetes, such as using the diversity as an index to distinguish different types of diabetes.

Objective:To summarize the clinical features, laboratory examination and genetic analysis of a patient with mucopolysaccharidosis type Ⅱ (MPS Ⅱ).Methods:Clinical manifestations, results of urine glycosaminoglycans (GAGs) and dermatan sulfate assay, metabolites related to MPS in peripheral blood leukocytes were analyzed. Meanwhile, the child and his mother were subjected to next-generation sequencing and Sanger sequencing.Results:The boy has presented with global development delay, coarse facies, frequent upper-respiratory infections, hearing loss, indirect inguinal hernia, hepatosplenomegaly, and skeletal deformities. His urine GAGs were significantly elevated, and the urinary dermatan sulfate (DS) was positive. Meanwhile, the activity of idose-2-sulfatase was extremely reduced. The patient was found to harbor a hemizygote c. 676C>G (p.His226Asp) missense variant in exon 5 of IDS gene, for which his mother was heterozygous. Conclusion:The novel c. 676C>G variant of the IDS gene probably underlay the MPS Ⅱ in this child. Genetic testing combined with enzymatic analysis can enable effective diagnosis and classification of MPS.

To establish the amplification-refractory mutation system quantitative real-time PCR (ARMS-qPCR) method based on qPCR technique for detecting the c.2T>C mutation of SLC25A13 gene and validate its diagnostic performance. According to the principle of ARMS-qPCR primer design, the specific primers were designed for the conserved sequence of SLC25A13. The c.2T>C mutation ARMS-qPCR detection assay of SLC25A13 gene and the corresponding Sanger sequencing system were established through the use of the synthetic plasmids of homozygous mutation and 200 human peripheral blood specimens which were verified by Sanger sequencing as templates, and the diagnostic efficacy of the qPCR assay was validated by using nucleic acid extracted from another 200 human peripheral blood specimens and the results obtained were compared with the Sanger sequencing results as the gold standard, and the consistency of the two detection methods was analyzed. The results showed that the qPCR assay could accurately identify artificial plasmids carrying different mutations of SLC25A13 gene, and distinguish between wild type SLC25A13 gene and the c.2T>C mutation. This method was used to detect the mutation status of SLC25A13 c.2T>C in human peripheral blood, and the detection results were 100% consistent with the Sanger sequencing results. Among the 200 blood samples, 8 samples (4%) carried the c.2T>C mutation of SLC25A13 gene and 192 samples (96%) did not carry it. In conclusion, the ARMS-qPCR test established in this study can quickly, simply and accurately detect the c.2T>C mutation of SLC25A13 gene, which is helpful for the diagnosis of citrin deficiency (CD).