ABSTRACT
Objective:To investigate the genetic association of single nucleotide polymorphisms (SNPs) in gamma-aminobutyric acid type A (GABAA) receptor genes cluster on chromosome 15q12 with autism in Chinese Han population.Methods:Totally 502 autism trios of Chinese Han ethnicity (including 502 autism individuals and 1004 healthy biological parents) were selected.All children met the autism diagnosis of Diagnostic and Statistical Manual of Mental Disorders,Fourth edition (DSM-Ⅳ).Genotyping for 15 selected tag SNPs in three GABAA receptor genes (GABRB3,GABRA5,and GABRG3) was performed using Agena Bioscience MassARRAY platform.The family-based association test for 15 tag SNPs was performed to compare the transmitted frequency of al leles of heterozygous genotypes from parents to offspring in autism trios.Results:The C allele of rs7180500 in GABRG3 and the A allele of rs4906902 in GABRB3 exhibited the preferential transmission from parents to affected offspring (Z =3.573,P ＜0.001;Z =3.141,P =0.002),and the association was significant after Bonferroni correction.Conclusion:It suggests that GABRG3 and GABRB3 which located in chromosome 15q12 might be susceptibility genes in Chinese Han population.
ABSTRACT
Objective To detect chromosomal aberrations of autism spectrum disorder (ASD), we performed karyo?types analyses in 632 ASD trios and then investigated whether copy number variants and neurodevelopment related genes are present in the regions of chromosomal aberrations. Methods Karyotypes analyses were performed in 632 ASD trios (1896 individuals). In addition, we investigated whether there were pathogenic copy number variants located in the rele?vant regions of detected aberrant karyotypes by using the database of the International Standards for Cytogenomic Arrays (ISCA) and the Genomic Variation and Phenotype in Humans using Ensembl Resources (DECIPHER) for ASD patients. Results We detected aberrant results in 22 of 632 patients (3.48%) by karyotypes analyses. Of these 22 aberrant karyo?types, 5 were de novo (0.79%), including the duplication, the translocation, karyotypes of Turner syndrome and the addi?tional material with unknown origin. Seventeen children affected with autism had aberrant karyotypes inherited from one of their parents. By using the ISCA and the DECIPHER database, we found that several copy number variants with high pathogenicity were located in 1q25 and 3p24. Further, these copy number variants consisted of several genes related to neurodevelopment such as TNR, ASTN1, and NMNAT2. Conclusion There are a few de novo chromosomal aberrations in some patients affected with ASD. Copy number variants of several pathogenic neurodevelopmental related genes may exist in the regions of chromosomal aberrations. Karyotypes analyses may be applied to explore the genetic etiology in some patients affected with ASD.
ABSTRACT
OBJECTIVE@#To discuss the function and operative method of silicon T tube in laryngotracheal reconstruction.@*METHOD@#Two hundred and ninety-seven patients of laryngotracheal stenosis were operated with laryngotracheal reconstruction in our department. All of patients were tracheostomy dependent before reconstruction and were placed a silicon T-tube stenting for 3 to 6 months after reconstruction.@*RESULT@#Two hundred and eighty-nine patients (97.3%) were successfully decannulated with good airway patency and effective phonation. They were followed up from 1 to 10 years, and no recurrence was found.@*CONCLUSION@#Silicon T-tube is an effective and safe stent for laryngotracheal reconstruction. Paying attention to some application details may avoid the complication and obtain a satisfactory effect.
Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Middle Aged , Young Adult , Laryngostenosis , General Surgery , Plastic Surgery Procedures , Methods , Silicon , Tracheal Stenosis , General SurgeryABSTRACT
OBJECTIVE To investigate the clinical characteristics,treatment and prognosis of laryngotracheal stenosis due to relapsing polychondritis (RP).METHODS The clinical data of 6 patients with laryngotracheal stenosis due to RP were reviewed retrospectively.RESULTS From 1996 to 2006,6 patients with laryngotracheal stenosis due to RP were managed in our hospital.Respiratory tract lesions were diffuse and extensive.Of them,4 patients accepted laryngotracheal reconstruction using surgical flaps with or without pedicle,2 accepted dilation of trachea in thoracic segments.Five patients were cured without recurrence.CONCLUSION Treatment of laryngotracheal stenosis due to RP is very difficult.If the surgical opportunity and methods were selected correctly according to each patient,good results can also be obtained.
ABSTRACT
T,P=0.008; Genotype:P=0.031)of DISC1 gene were significantly associated with schizophrenia.The haplotypes constructed by these two markers were significantly associated with schizophrenia,such as AT(?2=7.065,P=0.008,OR=1.42,95%CI=1.10~1.83)and GA(?2=6.009,P=0.014,OR=0.80,95%CI=0.68~0.96).When the subjects examined with the positive and negative syndrome scale(PANSS),the risk haplotype AT was not significantly correlated with positive,negative,excitement,depression and cognitive impairment factors of PANSS. Conclusion:These findings provide further evidence for DISC1 as a predisposing gene involved in schizophrenia in the Chinese Han Population.However,no positive association is found between DISC1 polymorphisms with schizophrenia clinical symptoms.
ABSTRACT
Objective:In order to improve the treatment methods of laryngotracheal atresia, several improved surgical procedures were used.Method:From 1986,the 48 patients with laryngotracheal atresia accepted surgical treatment in our hospital.Laryngo-fissure with laser cauterization of the glottis, laryngotracheal reconstruction using surgical flaps with or without particles, laryngo-tracheal reconstruction using itself′s cicatrices, tracheal end-to-end anastomosis, two-stage laryngotracheal reconstruction using aqueduct method, bronchotracheal reconstruction through the chest. Result:46/48 cases were cured breathing without tracheal cannula.Following-up survey is 1～12 years.Conclusion:The treatment of cicatriceal laryngotracheal atresia was difficult, but if the surgical methods were selected carefully according to the situation of each patient, we also can get a good result.