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 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 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 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.

[ 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 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.

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.

Objective: To investigate the potential relationship between sensory characteristics and gray matter volumes in children with autism spectrum disorders (ASD), to provide a basis for the diagnosis and treatment of children with ASD. Methods: A total of 40 ASD children who were treated or recovered in Xi an medical institutions and 16 typically developing (TD) children who were from several kindergatens in Xi an were invited for participation. Sensory characteristics were evaluated by the sensory processing and self regulation checklist, 3D structural brain images were obtained with TIWI, and gray matter volumes were analyzed by voxel based morphometry. Sensory characteristics and gray matter volumes were compared between groups and the relationship between sensory characteristics and different gray matter volumes were analyzed. Results: The scores of auditory, visual, tactile, sensory processing ability and sensory under responsivity in the ASD group were lower than those in the TD group ( Z/t =-2.63, -2.57 , -3.11, -2.19, -3.83, P <0.05). Gray matter volumes in nine brain regions increased in the ASD group compared to the TD group, including the left and right posterior inferior lobe, right parahippocamal gyrus, left insula, left media frontal gyrus, left superion occipital gyrus, right superion occipital gyrus, right superion parietal lobe, and right posterion central gyrus ( t =3.53, 3.69 , 3.37, 3.86, 3.61, 3.37, 4.04, 3.38, 3.16, P <0.01). In the ASD group, the scores of visual, vestibular, proprioceptive, sensory processing ability, sensory seeking behavior and sensory over responsivity were negatively correlated with gray matter volumes of left superior occipital gyrus ( r =-0.36, -0.40, -0.39, -0.36, -0.40, -0.36), and the scores of visual, vestibular, and sensory over responsivity were negatively correlated with gray matter volumes of the right superior parietal lobule ( r =-0.36, -0.50, -0.42)( P <0.05). Conclusion The presence of paresthesia in children with ASD is associated with gray matter volumes of the left superior occipital gyrus and right superior parietal lobule.

Objective To investigate the clinical manifestations, genetic basis and related literatures of Boucher-Neuh(a)user syndrome(BNS), hoping to help physicians recognize this rare disease. Methods A 25-year-old BNS patient was reported.The clinical manifestations and the laboratory data including fundus examination, blood testing, brain MRI and genetic data were summarized.The related literatures were also reviewed.Results The patient presented with tremors, ataxia, secondary sexual characteristics dysplasia,epilepsy, and then got worse progressively.Brain MRI showed severe cerebellar atrophy.Two mutations of PNPLA6 gene were found: one is the heterozygous mutation c.1811C >T (p.A604V),which has not been reported;another is c.2990C>T(p.S997L),which has been reported as a pathogenic mutation related to BNS.Conclusion PNPLA6-related BNS may be considered for adolescent patients with tremor and ataxia,secondary sexual characteristics dysplasia and epilepsy.

OBJECTIVETo investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa (GSD IIIa).

METHODSClinical data for diagnosis, treatment and follow-up of a sick child with GSD III was collected and analyzed. Genomic DNA was extracted from the peripheral blood samples from the patient and his parents. Polymerase chain reaction and direct DNA sequencing were utilized to analyze all of the exons of the AGL gene.

RESULTSThe genotype of the child was found to be c.3710_3711delTA/IVS14+1G>T. The former was a maternally-inherited mutation, which has not been reported previously. The latter was an abnormal splice-site mutation inherited from the father.

CONCLUSIONBased on its clinical and molecular evidences, the patient was diagnosed as GSD IIIa in conjunction with retrobular optic neuritis.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child, Preschool ; China ; Female ; Glycogen Debranching Enzyme System ; genetics ; metabolism ; Glycogen Storage Disease Type III ; enzymology ; genetics ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Point Mutation