OBJECTIVETo evaluate the role of polymorphism in the neurogenic differentiation factor 1(Neuro D) gene in Chinese patients with type 2 diabetes mellitus.

METHODSThe genotypes of codon 45 variant (GCC-->ACC) in the Neuro D gene were determined by mismatch PCR-restriction fragment length polymorphism assay in 448 Chinese, including 124 subjects with normal glucose tolerance and 324 patients with type 2 diabetes mellitus. The diabetic patients were divided into two groups cutting off with the age of 40 at onset.

RESULTSNo homozygote of the Ala45Thr variant was found in these subjects. The frequencies of AT heterozygous type were significantly higher in early-onset type 2 diabetic group than those in the control group and in the late-onset type 2 diabetic group (chi(2)=7.85, P=0.005; chi(2)=8.81, P=0.003). The frequencies of Thr45 allele in the early-onset type 2 diabetic group were significantly different from those of the control group (13.4% vs 5.2%, chi(2)=7.15, P=0.008) and the late-onset type 2 diabetic group (13.4% vs 5.8%, chi(2)=8.13, P=0.004). The presence of Thr45 allele was shown to have an association with early-onset type 2 diabetes (OR=2.52, 95% CI: 1.42-4.49). Furthermore, the subjects carrying the variant appeared to have lower serum concentration of C-peptide in diabetic group. However, the frequencies of polymorphism genotypes of Neuro D gene showed no difference between the late-onset type 2 diabetic group and the control group.

CONCLUSIONThe genetic polymorphism in the Neuro D is associated with the development of early-onset type 2 diabetes. The presence of Thr45 allele may represent a risk factor for early-onset type 2 diabetes among Chinese.

Alleles ; Basic Helix-Loop-Helix Transcription Factors ; DNA ; genetics ; metabolism ; DNA Restriction Enzymes ; metabolism ; DNA-Binding Proteins ; genetics ; Diabetes Mellitus, Type 2 ; genetics ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Middle Aged ; Mutation, Missense ; Polymorphism, Genetic ; Trans-Activators ; genetics

OBJECTIVETo evaluate the role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and plasma homocysteine levels in patients with type 2 diabetes mellitus and diabetic retinopathy (DR).

METHODSTotal of 208 patients with type 2 diabetes mellitus and 57 controls were recruited into the study. MTHFR genetic C677T polymorphisms were determined by PCR-RFLP. Plasma total homocysteine levels were measured using high-performance liquid chromatography (HPLC) with fluorescence detection.

RESULTSThe frequencies of MTHFR TT homogeneous type, CT heterogeneous type and allele T (28.18%, 41.82%, 49.09%) were significantly higher in the type 2 diabetes mellitus with diabetic retinopathy group than those without retinopathy (18.37%, 29.59%, 33.16%) and those of controls (17.54%, 28.07%, 31.58%). The presence of the T allele appeared to have a strong association with the development of diabetic retinopathy. The odds ratio was 1.94 with a 95% confidence interval of 1.31 - 2.88. Moreover, plasma homocysteine levels were remarkably higher in patients with TT or CT genotype than in patients with the CC genotype.

CONCLUSIONMTHFR gene C677T mutation associated with a predisposition to increased plasma homocysteine levels may be considered as a genetic risk factor for diabetic microangiopathy (such as DR) in Chinese patients with type 2 diabetes mellitus.

Aged ; Diabetes Mellitus, Type 2 ; complications ; Diabetic Retinopathy ; etiology ; Female ; Genotype ; Homocysteine ; blood ; Humans ; Male ; Methylenetetrahydrofolate Reductase (NADPH2) ; Middle Aged ; Mutation ; Oxidoreductases Acting on CH-NH Group Donors ; genetics ; Polymorphism, Genetic

Objective:To analyze the predictive factors for prognosis of adult patients with acute traumatic shock.Methods:A retrospective cohort study was used to analyze the clinical data of 122 adult patients with acute traumatic shock treated in ICU of Second People′s Hospital of Liaocheng from July 2013 to September 2021. There were 90 males and 32 females with the age range of 18-83 years [(49.8±16.9)years]. Injury severity score (ISS) was 14-50 points [(28.6±6.3)points]. According to the prognosis, the patients were divided into good prognosis group ( n=48) and poor prognosis group ( n=74). The gender, age, and leukocyte count, neutrophil count, lymphocyte count, platelet count, neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), D-dimer, lactic acid, ISS and shock index (SI) on emergency admission were compared between the two groups. Univariate stepwise regression analysis and multivariate Logistic regression analysis were used to screen the indicators affecting the prognosis of patients with acute traumatic shock. Predictive value of the indicators affecting patients′ prognosis were analyzed by receiver operating characteristic (ROC) curve, and the area under the curve (AUC), sensitivity, specificity and optimal cut-off value were calculated. The indicators affecting the prognosis were analyzed by stratification analysis. Results:There was no significant difference between the two groups in gender, platelet count, D-dimer, ISS and SI (all P>0.05). The age, lymphocyte count and lactate level in poor prognosis group were higher than those in good prognosis group, while the leukocyte count, neutrophil count, NLR and PLR in poor prognosis group were lower than those in good prognosis group (all P<0.01). Univariate stepwise regression analysis showed that age and NLR were related to the prognosis of patients with acute traumatic shock (all P<0.01). While the gender, leukocyte count, neutrophil count, platelet count, PLR, D-dimer, lactic acid, ISS and SI had no correlation with the prognosis (all P>0.05). Multivariate Logistic regression analysis showed that age ( OR=0.96, 95% CI 0.93-0.98) and NLR ( OR=1.19, 95% CI 1.10-1.29) were the affecting factors for prognosis of patients with acute traumatic shock. ROC analysis showed the AUC of age for 0.32 (95% CI 0.22-0.41) together with the optimal cut-off value predicting prognosis for 48.5 years (sensitivity 68.9%, specificity 64.6%), the AUC of NLR for 0.79 (95% CI 0.71-0.90) together with the optimal cut-off value predicting prognosis for 6.51 (sensitivity 77.1%, specificity 71.6%). Stratified analysis showed that the proportion of patients in poor prognosis group was increased gradually with the increase of age ( P<0.01), while that was decreased significantly with the increase of NLR level ( P<0.01). Conclusions:Age and level of NLR on emergency admission can predict the prognosis of adult patients with acute traumatic shock, with the best cut-off value of 48.5 years and 0.79. Moreover, advanced age and lower level of NLR indicate much poorer prognosis.