OBJECTIVE: To analyze the pathogenic variants of the KIF1A gene and its corresponding protein structure in an autism spectrum disorder (ASD) family trio carrying harmful missense variants in the KIF1A gene. METHODS: The peripheral blood DNA of the patient and his parents was extracted and sequenced using whole exome sequencing (WES) technology and verified by Sanger sequencing. Bioinformatics software SIFT, PolyPhen-2, Mutation Taster, and CADD software were used to analyze the harmfulness and conservation of variants. The Human Brain Transcriptome (HBT) database was used to analyze the expression of the KIF1A gene in the brain. PredictProtein and SWISS-MODEL were further used to predict the secondary structure and tertiary structure of KIF1A wild-type protein and variant protein. PyMOL V2.4 was utilized to investigate the change of hydrogen bond connection after protein variant. RESULTS: The WES sequencing revealed a missense variant c.664A>C (p.Asn222His) in the child's KIF1A gene, and this variant was a de novo variant. The harmfulness prediction results suggest that this variant is harmful. By analyzing expression level of KIF1A gene in the brain. It is found that KIF1A gene widely expressed in various brain regions during embryonic development. By analyzing the variant protein structure, the missense variant of KIF1A will cause many changes in the secondary structure of protein, such as alpha-helix, beta-strand, and protein binding domain. The connection of hydrogen bond and spatial structure will also change, thereby changing the original biological function. CONCLUSION The KIF1A gene may be a risk gene for ASD.
Autism Spectrum Disorder/genetics* ; Child ; Female ; Humans ; Kinesin/genetics* ; Mutation ; Mutation, Missense ; Pregnancy ; Protein Domains ; Whole Exome Sequencing

Objective: The objective of this study was to compare the early clinical effects of zirconia all⁃ceramic crowns using two different impression methods. Zirconia ceramic crowns were produced using digital models based on either a silicone rubber impression perfusion model in vitro or a 3D mouth scanner. Methods : A total of 50 patients with a planned restoration of the first permanent molar with zirconia all⁃ceramic crowns after root canal therapy were se⁃ lected and randomly divided into two groups: a digital impression by intraoral 3D scanning group and a digital impres⁃ sion by extraoral scanning after silicone rubber impression group. Zirconia all⁃ceramic crowns were created by CAD/ CAM in both groups. Marginal adaptation, proximal contact, and occlusal contact were compared between groups. Results: There was no significant difference between the two groups in marginal adaptation (P > 0.05). For proximal con⁃ tact and occlusal contact, no significant differences regarding the number of cases for the criteria of level A and level B were found between two groups (P > 0.05), while the misfit value in level B was smaller in the first group than in the second group (P < 0.05). Conclusion Zirconia all⁃ceramic crowns with intraoral 3D scanning show excellent early clinical performance.

Objective : To evaluate the clinical outcomes of all-ceramic crowns whose oral digital impressions were scanned by 3Shape Trios. Methods : All the impressions were scanned by Trios and all the crowns were fabricated according to the standard procedure. The restoration quality were evaluated using modified United States Public Health Service (USPHS) criteria one year after treatment. Restoration integrity、 marginal adaptation、enamel wear、 color satisfaction and gingival index (GI) of the prostheses were evaluated according to the modified USPHS criteria. Results: The clinical 1 year survival rate of 92 porcelain crowns fabricated by 3-shape Trios digital impression and made by CAD/CAM was 100%. The scored A rates of restoration integrity、 marginal adaptation、 enamel wear、 secondary caries、color satisfaction and gingival index of the prostheses were 100%、91.3%、 98%、95.6%、96.7% and 94.7% after 1 year, respectively. Conclusion The clinical outcomes of all-ceramic crowns whose oral digital impressions were scanned by 3Shape Trios and whose crowns were made by CAD-CAM are satisfying.

Objective : To evaluate the clinical outcomes of all-ceramic crowns whose oral digital impressions were scanned by 3Shape Trios. Methods : All the impressions were scanned by Trios and all the crowns were fabricated according to the standard procedure. The restoration quality were evaluated using modified United States Public Health Service (USPHS) criteria one year after treatment. Restoration integrity、 marginal adaptation、enamel wear、 color satisfaction and gingival index (GI) of the prostheses were evaluated according to the modified USPHS criteria. Results: The clinical 1 year survival rate of 92 porcelain crowns fabricated by 3-shape Trios digital impression and made by CAD/CAM was 100%. The scored A rates of restoration integrity、 marginal adaptation、 enamel wear、 secondary caries、color satisfaction and gingival index of the prostheses were 100%、91.3%、 98%、95.6%、96.7% and 94.7% after 1 year, respectively. Conclusion The clinical outcomes of all-ceramic crowns whose oral digital impressions were scanned by 3Shape Trios and whose crowns were made by CAD-CAM are satisfying.

Objective To investigate the prevalence and risk factors of non?suicidal self injury among middle school students. Methods Data were collected from 2 140 middle school students with the mean age of 13.92 by stratified sampling method. All students were evaluated with Beck Depression Scale (BDI),Barratt Im?pulsiveness Scale ( BIS ) , Adolescent Self?Rating Life Events Check List ( ASLEC ) , Adolescents Health related Risk Behaviors Inventory ( AHRBI ) , Chinese version of Family Adaptability and Cohesion Evaluation Scales ( FACES II?CV) ,and self?made investigate questionnaire. Results The prevalence of non?suicidal self injury a?mong local middle school students was 23.2%,total 495 adolescents were endorsed non?suicidal self injury,and 49.7% were girls.The results of in multivariable logistic regression showed the main risk factors for non?suicidal self injury among adolescents were being female,depressive symptoms,impulsiveness,negative life events and health re?lated risk behaviors. Conclusion Non?suicidal self injury is high among Chinese adolescent in the city of Dujian?gyan,and it is necessary to take effective interventions.

Objective To understand the prevalence and risk factors of non-suicidal self-injury in middle school students.Methods 1312 middle school students of Pengzhou and Santai were selected to fill in a Risky Behavior Questionnaire for Adoluscents (RBQ-A),Family Environment Scale ( FES ),Center for Epidemiological Survey,Depression Scale (CES-D),Adolescent Self-Rating Life Events Check List (ASLEC),Social Support Scale for Adolescents (SSSA) and self-administered questionnaire.In all the research subjects,1288 were qualified for the study in April 2011 before the risk factors for non-suicidal self-injury were identified by logistic regression.Results In 1288 middle school students,22.67％ had a history of non-suicidal self-injury,with 22.70％ in boys and 22.64％ in girls.63.36％ of students had injured themselves through variouslyways,more seen in boys (26.88％) than in girls (11.36％ ) who cut or burnt themselves.The scores of ASLEC and CES-D in non-suicidal self-injury group appeared higher than that in the control group and the score of SSSA was found higher in the control group.The main risk factors for non-suicidal self-injuries were family conflict,depressive emotion,negative life events and receiving less social support.Conclusion The prevalence of non-suicidal self-injury among middle school students in Pengzhou was high,whicn called for more attention.

OBJECTIVEThis study was to analyze the mental health status of the children and adolescents from the areas struck by Wenchuan earthquake and to understand the factors that may have impact on their mental health after exposing to the earthquake.

METHODSSubjects of this survey were students (8 - 16 years old) from Chendu, Dujiangyan, Beichuan and Wenchuan districts which were the most severely affected areas in the earthquake. We analyzed the subjects' mental health conditions after Wenchuan earthquake by using a general questionnaire that was composed of the Children's Revised Impact of Event Scale (CRIES-13) and Depression Self-rating Scale for Children (DSRSC). Students are investigated 7341 case, 7387 case, 7395 case after 3, 6, 24 months. The data were analyzed with logistic regression model.

RESULTSThe CRIES-13 scores were (27.51 ± 12.26), (23.54 ± 12.79) and (21.35 ± 12.59) (F = 28.842, P ≤ 0.05) and the DSRSC scores were (11.79 ± 5.73), (10.94 ± 5.50) and (10.75 ± 5.27) (F = 17.084, P ≤ 0.05) 3, 6 and 24 months after the earthquake, respectively. The risk factors associated with depression 3, 6, 24 months after the earthquake were gender (female) (OR values were 2.14, 2.72, 2.31; 95%CI values were 1.01 - 3.03, 1.10 - 5.01, 1.02 - 4.58), age (less than 12 years old) (OR values were 1.97, 2.22, 1.93; 95%CI values were 1.43 - 3.17, 1.02 - 3.54, 1.32 - 3.27), having family member injury and death (OR values were 2.19, 2.45, 2.35; 95%CI values were 1.04-2.89, 1.16-2.08, 1.02 - 2.79), desperation (OR values were 2.24, 2.09, 2.16; 95%CI values were 1.00 - 2.54, 1.70 - 2.58, 1.00 - 4.56). The risk factors associated with PTSD 3, 6, 24 months after the earthquake were gender (OR values were 2.16, 2.94, 1.96; 95%CI values were 1.36 - 2.53, 1.36 - 2.53, 1.06 - 3.92), age (less than 12 years old) (OR values were 3.51, 2.62, 1.92; 95%CI values were 1.22 - 5.40, 1.14 - 4.93, 1.08 - 3.35), having teachers and schoolmates injury and death (OR values were 2.32, 2.48, 2.36; 95%CI values were 1.17 - 2.48, 1.30 - 2.72, 1.02 - 2.85), having family member injury and death (OR values were 2.73, 2.21, 1.85;95%CI values were 1.67 - 3.61, 1.04 - 3.15, 1.05 - 2.38), witnessing injury (OR values were 2.17, 2.36, 2.34; 95%CI values were 1.15 - 3.65, 1.17 - 2.67, 1.02 - 3.67), witnessing death (OR values were 1.98, 2.39, 1.71;95%CI values were 1.10 - 2.56, 1.14 - 3.70, 1.57 - 3.88), desperation (OR values were 2.02, 1.94, 2.02; 95%CI values were 1.67 - 2.35, 1.66 - 2.27, 1.82 - 2.26).

CONCLUSIONThe symptoms of PTSD and depression of young survivors from the earthquake-struck areas had gradually alleviated 3, 6, 24 months after the earthquake. Age (less than 12 years old), gender (female), having family member injury and death, witnessing injury and death, and desperation were the main risk factors that affected the children and adolescents mental health.

Adolescent ; Child ; China ; epidemiology ; Depression ; epidemiology ; etiology ; psychology ; Disasters ; Earthquakes ; Female ; Humans ; Male ; Risk Factors ; Stress Disorders, Post-Traumatic ; epidemiology ; etiology ; psychology ; Surveys and Questionnaires

OBJECTIVETo establish the model of bone mesenchymal stem cell-derived smooth muscle cells (BMSC-SMCs) and investigate the role of BMSC-SMCs in the development and progression of artherosclerosis.

METHODSBMSCs were isolated from the femoral bone of SD rats by adherent tissue culture method, and vascular smooth muscle cells (VSMCs) were obtained from the thoracic aorta. The differentiation of BMSCs into BMSC-SMCs was induced in the conditioned medium. The specific markers of BMSCs and BMSC-SMCs were identified by immunofluorescence (IF) staining. After treatment with 80 mg/L oxidative low-density lipoprotein (ox-LDL) for 72 h, the growth characteristics of BMSC-SMCs and VSMCs were observed. Flow cytometry was applied to analyze the cell cycle of BMSC-SMCs and VSMCs.

RESULTSBMCS-SMCs transformed into foam cells after treatment with ox-LDL, which was more obvious in comparison with VSMCs. The growth curve of BMSC-SMCs and VSMCs presented with an S-shape pattern with the cell doubling time of 20 and 32 h, which was reduced to 15 and 28 h after treatment with 80 mg/L ox-LDL, respectively. Flow cytometry showed that exposure to 80 mg/L ox-LDL significantly increased G(0)/G(1) and decreased S and G(2)/M phase cells in both BMSC-SMCs (P<0.01, n=3) and VSMCs (P<0.05, n=3) in comparison with the control cells.

CONCLUSIONBMSC-SMC might be involved in the formation of fatty core and accelerate the development of atherosclerosis.

Animals ; Atherosclerosis ; etiology ; Bone Marrow Cells ; cytology ; Cell Differentiation ; physiology ; Cell Proliferation ; drug effects ; Cells, Cultured ; Female ; Foam Cells ; cytology ; Lipoproteins, LDL ; pharmacology ; Male ; Mesenchymal Stromal Cells ; cytology ; Muscle, Smooth, Vascular ; cytology ; Rats ; Rats, Sprague-Dawley

Objective To examine the differences in the structure of brain white matter among deficit schizophrenia, nondeficit schizophrenia and healthy controls by using voxel-based morphometry (VBM). Methods Ten deficit schizophrenic patients, eleven nondeficit patients and fifteen healthy comparison subjects participated in the study. All the subjects were scanned by GE Twin Speed 1.5T MRI system. Whole brain, voxel-wise analyses of regional white matter volume were conducted by the VBM toolbox on the Matlab7.6 and SPM5. t -test was then used for the comparison between groups. Results Compared to the healthy controls, nondeficit schizophrenic patients significantly decreased the density of gray matter in the frontal, parietal, temporal, occipital lobe and basal ganglia , while the deficit patients showed the characteristically broad and significant decreasion in the frontal lobe, including left medial frontal gyrus, bilateral inferior frontal gyrus, left middle frontal gyrus, and left orbital gyrus (Cluster ≥ 30 mm3, P<0.01). Moreover, deficit patients showed the decreasion in the temporal cortex and the limbic lobe (right insula). Relative to the nondeficit schizophrenic patients, deficit patients had significant regional gray matter decreases in the left medial frontal gyrus, bilateral inferior frontal gyrus, right precentral gyrus, and right superior temporal gyrus (Cluster ≥ 30 mm3, P<0.01). Conclusion Structural heterogeneity in schizophrenia may relate to specific patterns of gray matter density reductions in deficit and nondeficit patient. However the two subtype of schizophremia patients share a common prefrontal-temperal pattern of structural brain alterations.

OBJECTIVETo evaluate the feasibility, efficacy, and safety of high dose immunosuppressive therapy (HDIT) and autologous hemopoietic stem cell transplantation (HSCT) with CD34+ cell selection in patients with severe, refractory autoimmune diseases.

METHODSTwenty-six patients with persistent systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), primary Sjögren's syndrome (pSS), or systemic sclerosis (SSc) who had been treated unsuccessfully with conventional treatment were enrolled in the trial in Peking Union Medical College Hospital from September 1999 to June 2004. The patients received HDIT with 200 mg/kg cyclophosphamide followed by an infusion of autologous stem cells that were CD34 selected. Disease activity, adverse effect, hemopoietic and immune reconstitution, and time to recurrence of disease were monitored.

RESULTSOverall treatment related mortality was 7.7% (2/26) with 1 patient died of cytomegalovirus infection and another of severe pneumonia. Relapse occurred in 3 SLE patients (17.6%) in 37, 26, and 19 months posttransplantation respectively, and 1 RA patient in 15 months posttransplantation. SLE Disease Activity Index (SLEDAI) scores of SLE survivors decreased significantly (P < 0.01). RA patients recorded a drop of Disease Activity Score 28 (DAS 28). The pSS patient remained symptoms free up to now, more than 50 months after the transplantation.

CONCLUSIONHSCT can be performed relative safely in patients with severe autoimmune disease. Short-term effect of HSCT is promising. However treatment related mortality and relapse were observed in a subset of patients.

Adolescent ; Adult ; Antigens, CD34 ; analysis ; Arthritis, Rheumatoid ; immunology ; therapy ; Autoimmune Diseases ; immunology ; therapy ; Cyclophosphamide ; administration & dosage ; therapeutic use ; Dose-Response Relationship, Drug ; Female ; Follow-Up Studies ; Hematopoietic Stem Cell Transplantation ; Humans ; Immunosuppressive Agents ; administration & dosage ; therapeutic use ; Lupus Erythematosus, Systemic ; immunology ; therapy ; Male ; Pilot Projects ; Recurrence ; Sjogren's Syndrome ; immunology ; therapy ; Transplantation Conditioning ; Transplantation, Autologous