Objective:To study the relationship between genetic polymorphisms of GSTM1 GSTT1 and the susceptibility of laryngeal and hypopharyngeal carcinomas(LHC).Method:The GSTM1 an GSTT1 genotypes were determined by multiplex PCR analysis in 76 LHC patients and 76 population controls.The association be tween the genotypes and LHC risk was measured by odds ratios(ORs)and 95% confidence intervals(95%Cls).Resuit:The frequency of GSTM1 null genotype was 59.2% in the LHC patients and 42.1% in controls(OR=1.935,95%CI=1.069-3.510),the difference was significant(P＜0.01).The frequency of GSTT1 null genotype was 57.9% in the LHC patients and 51.3% in controls.The difference was not significant(P＞0.05).In smokers,the risk of the LHC increased in subjects of GSTM1 null genotype(OR=5.545,95%CI=2.158-13.528).Conclusion:GSTM1 polymorphisms are associated with susceptibility to the LHC.It has the synergistic effects with smoking in the development of the LHC.GSTT1 genotypes might have no association with risk of the LHC in urban Linyi.

OBJECTIVE: To assess the value of Karyomapping for the prenatal diagnosis of facioscapulohumerial muscular dystrophy type 1 (FSHD1). METHODS: Peripheral blood and chorionic villi samples were collected from five families affected with FSHD1. Linkage-based diagnosis was carried out by using the Karyomapping method. Diagnosis for two fetal samples was carried out with the next-generation optical mapping system. RESULTS: The results of Karyomapping showed that three fetuses inherited the risky 4q35 region of the proband and two fetuses did not. The fetuses of families 1 and 2 received further diagnosis by the next-generation optical mapping system, and the results were consistent with those of Karyomapping. CONCLUSION Karyomapping has enabled prenatal diagnosis for the five families affected with FSHD1. The method was faster and simpler compared with conventional strategies, though its feasibility still needs further validation. Since there were no SNP loci designed on the Karyomap chip for the DUX4 gene and its 3' flanking regions, misjudgment due to chromosomal recombination could not be completely eliminated. The accuracy of this method still needs further validation.
Female ; Genetic Linkage ; Humans ; Muscular Dystrophies ; Pregnancy ; Prenatal Diagnosis

With an incidence of 1/800 - 1/600, Down syndrome (DS) is the most common chromosomal disorder in humans. Whilst most DS patients has trisomy 21, a small proportion may carry translocations or mosaicisms involving chromosome 21. The main characteristics of DS include mental retardation, peculiar facies, growth retardation, congenital heart disease, duodenal stenosis, Alzheimer's disease, leukemia, and immunodeficiency, which may be due to increased dosage of critical genes. Recent studies also showed that epigenetic changes may also occur in DS. For research on patients with DS or other trisomies have been restricted by ethical considerations, and commonly used mouse models cannot fully replicate the characteristic features of DS, pluripotent stem cells induced from fetal samples or biopsy tissues from DS patients may generate models with the same genetic content, which may provide idea materials for studying the pathogenesis of DS and customized cell and/or gene therapies.

OBJECTIVE: To study the relationship between genetic polymorphisms of GSTM1 GSTT1 and the susceptibility of laryngeal and hypopharyngeal carcinomas (LHC). METHOD: The GSTM1 and GSTT1 genotypes were determined by multiplex PCR analysis in 76 LHC patients and 76 population controls. The association between the genotypes and LHC risk was measured by odds ratios (ORs) and 95% confidence intervals (95% CIs). RESULT: The frequency of GSTM1 null genotype was 59.2% in the LHC patients and 42.1% in controls (OR=1.935, 95% CI=1.069-3.510), the difference was significant (P<0.01). The frequency of GSTT1 null genotype was 57.9% in the LHC patients and 51.3% in controls. The difference was not significant (P>0.05). In smokers, the risk of the LHC increased in subjects of GSTM1 null genotype (OR=5.545, 95% CI=2.158-13.528). CONCLUSION GSTM1 polymorphisms are associated with susceptibility to the LHC. It has the synergistic effects with smoking in the development of the LHC. GSTT1 genotypes might have no association with risk of the LHC in urban Linyi.
Carcinoma, Squamous Cell ; genetics ; Case-Control Studies ; Disease Susceptibility ; Female ; Gene Frequency ; Genotype ; Glutathione Transferase ; genetics ; Humans ; Hypopharyngeal Neoplasms ; genetics ; Laryngeal Neoplasms ; genetics ; Male ; Polymorphism, Genetic

Objective To investigate the relationship between apparent diffusion coefficient (ADC) values and histopathological grading of cerebral gliomas.Methods A retrospective analysis was performed to investigate the clinical data of 76 patients with cerebral gliomas,admitted to our hospital from April 2013 to December 2016.According to Classification Criteria of Central Nervous System Tumors by WHO in 2016,these 76 patients were divided into low grade cerebral glioma group (grading Ⅰ-Ⅱ,n=21),moderate grade cerebral glioma group (grading Ⅲ,n=23) and high grade cerebral glioma group (grading Ⅳ,n=32).MR imaging,enhanced MR imaging and diffusion weighted imaging (3.0T,b value:1000 s/mm2) were performed to detect the ADC values.One-way ANOVA was used to compare ADC values between the 3 different histopathological groups.Spearman correlation analysis was used to analyze the correlation between histopathological grading of cerebral gliomas and ADC values.A receiver operating characteristic curve (ROC) analysis was performed to evaluate the diagnostic efficiency of ADC values.Results The ADC values of low grade,moderate grade and high grade cerebral gliomas were (1.37±0.26)×103 mm2/s,(0.97±0.11)×103 mm2/s,(0.75±0.13)×10-3 mm2/s,respectively;statistically significant differences were observed between each two groups (P＜0.05).There was a negative correlation between ADC values and histopathological grading of cerebral gliomas (r=-0.868,P=-0.000).ROC analysis showed that the optimal cutoff point of ADC values was 1.11 × 10.3 mm2/s in diagnosing low grade cerebral gliomas,enjoying sensitivity and specificity of differential diagnosis of 95.2％ and 96.4％;ROC curve showed that the optimal cutoffpoint of ADC values was 0.93×10-3 mm2/s in diagnosing high cerebral gliomas,enjoying sensitivity and specificity of differential diagnosis of 81.8％ and 93.7％.Conclusion ADC values are important for predicting histopathological grading of cerebral gliomas.