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Objective To investigate the association of neural differentiation factor 1 (NeuroD1) Ala45Thr polymorphism with type 2 diabetes by meta-analysis.Methods The electronic databases were retrieved from PubMed,EMBASE,CNKI,VIP fulltext database,and Wanfang fulltext database.Literatures about the association of NeuroD1 Ala45Thr polymorphism with type 2 diabetes from 2004 to 2012 were searched.The selected studies from 2004 to 2012 were included to analyze data based on the published meta-analysis of the NeuroD1 (Ala45Thr) gene polymorphism and type 2 diabetes written by Kavvoura,et al.The odds ratio of NeuroD1 (Ala45Thr) genotype distributions in type 2 diabetic patients compared with healthy control were analyzed.Rev-Man 5.0 software was applied for investigating hereogeneity among individual studies and summarizing effects with proper statistical methods.Thirteen case control studies were enrolled.Results A total of 3 896 patients and 3 186 control subjects were enrolled for the study.The pooled ORs of Thr45Thr45/(Ala45Thr+ Ala45Ala45) genotype in type 2 diabetes mellitus and control groups were 3.16 (95％ CI0.99-10.11) in the subgroup of yellow race and 1.09(95％ CI0.90-1.32) in the subgroup of white race,with no statistically significant difference(P＞0.05).The pooled OR of G/A allele in type 2 diabetes mellitus and control groups was 0.85 (95 ％ CI 0.72-0.99)/1.18 (95％ CI 1.07-1.38),with statistically significant difference (Z =2.02,P =0.04).Conclusions The A allele of NeuroD1 (Ala45Thr) locus may be a risk factor for type 2 diabetes mellitus.
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To study the status of diet and nutrition in Uyghur families with maturity onset diabetes of young (MODY).Four MODY families were composed of four generations of Uyghur with 50 members collected from Kashgar,Shanshan,and Ili regions of Xinjiang Uyghur Autonomous Region.A dietary survey with a semi-quantitative food frequency questionnaire was conducted.According to the sex and different intensities of physical activity,the nutrient intake was calculated by nutrition calculator software,and the results were compared with recommended nutrients intake(RNI).Cereals,livestock,and poultry meat,being the main food stuff in Uyghur MODY families,accounted for 54.11％ and 13.87％ of total energy respectively,while fruit,fish,and shrimps were seldom taken,and accounted for 0.41％ and 0.26％ of total energy respectively.Carbohydrate,protein,and fat accounted for 55.0％,16.7％,and 28.4％ of total energy intake respectively,within the scope of the RNI for diabetes suggested by both Chinese Diabetes Society and the American Diabetes Association.The total energy and all three major nutrients were excessively taken by subjects of different genders and different intensities physical activity from Uyghur MODY families in Xinjiang.Uyghur diets lead to excessive calorie intake in the Uyghur MODY family members.The Health education of Uyghur language and text should be strengthened,so as to improve the scientific dietary knowledge.
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Context: Extragastrointestinal stromal tumors (EGIST) are extremely uncommon neoplasm. To the best of our knowledge, only one retroperitoneal EGIST case has been reported in Oncolgy, in 2005（PubMed search result). Case Report: A 67-year old female patient presented with epigastric discomfort, dyspepsia, and anemia. Ultrasonographic examination of the abdomen showed the location of the tumor was between the tail of the pancreas and the spleen (retroperitoneal), it was variable in size of 12.3cm×7.2cm×14cm. Color Doppler Flow Imaging (CDFI) showed no flow signals with arterial-venous doppler spectrum in the masses．Contrast-enhanced computed tomography of the abdomen revealed a heterogeneously enhancing mass (8.23cm×14.2cm) and abundant blood supply of the tumor. The patient underwent gastroscopes-guided biopsy from the fundus of stomach for pathologic diagnosis and the result indicated chronic superficial gastritis. A complete gross excision was performed. Retroperitoneal tylectomy, left hepatic lobectomy, enterolysis, and liver biopsy were performed. Two weeks post operation, the patient was discharged without any postoperative problems. The final diagnosis of retroperitoneal EGIST was confirmed by histopathological examination and immunohistochemical findings (CD117 positivity). Conclusion: We report a very rare case of retroperitoneal EGIST. Although the Ultrasonographic examination, computer tomography and endoscopy examination did not confirm the final diagnosis, they are complemented to each other in order to identify the exact location of the tumor. EGIST should be considered in the differential diagnosis of solid masses of abdomen on cytology and immunohistology.
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ObjectiveTo study the characteristics of serum metabolites in two Uyghur families with maturityonset diabetes of the young(MODY).MethodsTwo MODY families were composed of four generations of Uyghur with 52 members collected from Kashgar region,Xinjiang Uyghur Autonomous Region.The general information,blood glucose and lipid levels,and blood pressure were analyzed.Using 1H nuclear magnetic resonance (1H NMR )spectroscopy,serum metabolites were measured for each subject.After having conducted data pretreatment on the spectrogram,orthogonal partial least squares discriminant analysis ( OPLS-DA ) was used to interpret data.The subjects were divided into two groups according to blood glucose ( diabetes and non-diabetes ),blood pressure,body mass index ( BMI ) for comparing differences in the metabolites.The differences of serum metabolic components between two groups were determined using pearson correlation coefficients with significant difference detection and two-dimensional spectrum technology.Results lsoleucine and tyrosine levels in diabetes group were decreased significantly,while α-glucose and β-glucose levels were increased significantly compared with non-diabetes group( all P＜0.05 ).Citrate,phaseomannite,1 -methyl histidine,and tyrosine levels in hypertension group were all decreased significantly compared with normal blood pressure group( all P＜0.05 ).No significant metabonomic differences were observed between normal BMI group and high BMI group.ConclusionsMetabonomic changes in diabetic patients from MODY families indicate that diabetic patients suffer from disordered tricarboxylic acid cycle ( TCA cycle )metabolism,with reduced glycolysis of glycogen in liver and muscle.There exist the metabolic disorder in TCA cycle and obstruction of fat metabolism in patients with hypertension from the MODY families.
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The development of new generation sequencing technologies has brought new opportunities for the study of diseases. Exome sequencing has shown to be an effective, rapid, high performance technique that has already been used in research of inherited diseases such as monogenic disorders. It has already been approved by scientists in the field of monogenic disorder study, and will become widely used. This approach will accelerate discovery of the causative genes of Mendelian disorders. This article reviews some recent applications of exome sequencing in the study of gene-related diseases.