Objective:To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined SLC26A4 variant analysis and clinical phenotype analysis. Methods:Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. Results:A total of 27 pathogenic loci of SLC26A4 were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. Conclusion:The most common mutation site of SLC26A4 in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.
Humans ; Sulfate Transporters ; Vestibular Aqueduct/abnormalities* ; Mutation ; Membrane Transport Proteins/genetics* ; Hearing Loss, Sensorineural/genetics* ; Male ; Female ; Child ; Adolescent ; Child, Preschool ; Adult ; Young Adult ; Phenotype ; High-Throughput Nucleotide Sequencing

Objective:To explore the relationship of risk factors and clinical features to assessments of children with cerebral palsy (CP ) using a magnetic resonance imaging classification system (MRICS).Methods:Medical records of CP patients under 18 years old were reviewed retrospectively. Data including high-risk factors, cranial MRI results and clinical characteristics were collected. The cranial MRI results were classified according to the MRICS.Results:Of 1357 patients studied, 1112 (82%) had received cranial MRI scans. Among them, 962 (86.5%) showed MRI-identified brain abnormalities, 489 in the periventricular white matter. Subjects with different weeks of gestation, birth weights, delivery times, neonatal hypoxic-ischemic encephalopathy, and neonatal cerebral hemorrhage had significantly different MRI classifications according to the system. Premature birth, low birth weight and multiple births correlated with the incidence of white matter brain injury. Only 4 of the subjects with neonatal cerebral hemorrhage were classified as having normal brain structures using the MRICS. However, gender, birth method, and pathological jaundice had no significant relationship with MRICS ratings. Significant differences in MRICS classifications were observed between patients with different CP subtypes, gross motor function scores, as well as with or without epilepsy, speech or language impairment. But degrees of mental retardation were not significantly related with MRICS classifications.Conclusion:MRICS classifications relate closely with risk factors and the clinical characteristics of CP patients. The system can play an important role in finding pathogenesis and predicting clinical outcomes. It is worthy of applying and promoting in the clinic.

Objective The study was to investigate the spectrum and incidence of the hot-spot deafness gene mutations from non-syndromic hearing loss(NSHL)in Guizhou province.Methods Genomic DNAs of 356 patients of NSHI in Guizhou were obtained from peripheral blood and a deafness gene test chip was used to screen nine hot spot mutation in the gene GJB2,SLC26A4,GJB3 and mitochondria 12SrRNA.Results Eighty-eight (24.72%)out of 356 patients were found carrying at least one pathogenic gene mutation.Among them,40 patients with the GJB2 mutations were found(11.24%),including 19 cases(5.34%)of homozygous matutions,5 cases(1.40%)of com-pound heterozygous mutations,and 15 cases(4.21%)of single heterozygous mutations.Twenty-nine patients with the SLC26A4 mutations were found (8.15%),including 9 cases(2.53%)of homozygous mutations and 19 cases (5.34%)of single heterozygous mutations.Homogenic mitochondrial 12SrRNA 1555A>G mutations were in 10 patients(2.81%)and 1494C>T mutations in 10 patients (0.56%),and heterogeneous mitochondrial 12SrRNA 1555A>G mutations in 7 patients(1.97%).GJB3 gene c.538C>T heterozygous mutations was found in 1 patients. Conclusion The mutations of GJB2 and SLC26A4 gene are two major pathogenic genes for patients with NSHL in Guizhou province.Our study provides a theoretical basis for the early diagnosis,genetic counseling and treatment of deafness.

Objective To investigate the causes,diagnosis and treatment of small intestine bleeding.Methods Sixty-eight cases of small intestine bleeding from January 2000 to June 2010 were retrospectively analyzed.Among all cases,4 underwent routine hemostatic treatment under colonoscopy,40treated with open surgery and 24 patients with laparoscopic therapy.Among them,57 cases underwent part resection for some small intestine,completely laparoscopic resection of diverticula was performed in 7patients.Results Neoplasms was the leading cause of small intestine bleeding,accounting for 48.5％ (33/68)in these patients,followed by small intestine diverticulum accounted for 29.4％ ( 20/68 ),intestinal infective diseases accounted for 14.7％ ( 10/68 ) and vascular disease accounted for 7.4％ ( 5/68 ).Conclusion The clinical manifestations of small intestinal bleeding showed no specific signs.Neoplasm,intestine diverticulum and intestinal infective diseases are the most common causes of small intestinal bleeding.Small intestinal bleeding can be diagnosed in intraoperative colonoscopy.Surgery is the most effective treatment for small intestinal bleeding.