Objective To investigate the characteristics of PMP22 duplication mutation and the clinical variability of Charcot-Marie-Tooth disease type 1A (CMT1A) patients. Methods PMP22 duplication mutation analysis were performed in 45 cases diagnosed probably CMT by combination of improved allele-specific PCR-restriction enzyme digestion and short tandem repeat (STR) analysis based on laser-induced fluorescence detection in capillary electrophoresis. The clinical features of the positive cases were precisely analyzed. Results With the combined use of two methods, PMP22 duplication was detected in 21 cases, i.e. 10 CMT1 cases with typical presentations including weakness and atrophy in the distal limbs, and 11 atypical cases with special phenotypes including 1 case with mild dizziness, 1 case with hearing loss, 2 cases with recurrent limbs weakness, 2 cases with postural tremor in the upper limbs, 4 cases with cerebellar ataxia and 1 case with epilepsy. Conclusions The improved allele-specific PCR-restriction enzyme digestion provides the accurate, reliable and feasible method to detect PMP22 duplication, which is the most common cause of CMT. Comprehensive analysis of clinical, electrophysiological and pathological features of the CMT1A patients with positive PMP22 duplication indicate the high clinical variability of this disease.

Objective To investigate the association of lipid accumulation product (LAP) and visceral fat index (VAI) with nonalcoholic fatty liver disease (NAFLD) and the value of LAP and VAI in predicting the risk of NAFLD. Methods A total of 708 subjects who underwent physical examination in China-Japan Friendship Hospital from September 2018 to May 2019 were enrolled and divided into NAFLD group ( n =426) and non-NAFLD group ( n =282), and the two groups were compared in terms of LAP, VAI, and related biochemical parameters. The independent samples t -test was used for comparison of normally distributed continuous data between groups, and the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between groups.The chi-square test was used for comparison of categorical data between groups. The Spearman test was used for correlation analysis. The subjects were divided into L1-L4 groups based on LAP and V1-V4 groups based on VAI, and the distribution of NAFLD was compared between groups; a logistic regression analysis was used to calculate the risk of NAFLD at different levels of LAP and VAI, and the receiver operating characteristic (ROC) curves were plotted for LAP, VAI, waist circumference (WC), and body mass index (BMI) in predicting NAFLD in different sex and body weight subgroups, so as to evaluate the value of each index in the prediction and diagnosis of NAFLD. Results Compared with the non-NAFLD group, the NAFLD group had significantly higher age, proportion of male subjects, proportion of subjects with a smoking history, and levels of LAP, VAI, WC, BMI, systolic blood pressure, diastolic blood pressure, alanine aminotransferase, aspartate aminotransferase, total cholesterol, triglyceride, low-density lipoprotein cholesterol, fasting blood glucose, and serum uric acid, as well as a significantly lower level of high-density lipoprotein cholesterol (all P < 0.01). NAFLD was positively correlated with the levels of LAP and VAI (Cramer's V=0.552 and 0.464). The multivariate logistic regression analysis showed that after adjustment for related risk factors, the risk of NAFLD in the L4 group was still 8.811 (95% confidence interval [ CI ]: 4.335-17.910) times that in the L1 group ( P < 0.001), and the risk of NAFLD in the V4 group was still 5.967 (95% CI : 3.263-10.912) times than that in the V1 group ( P < 0.001). The ROC curve analysis showed that both LAP and VAI had an area under the ROC curve (AUC) of > 0.7 in predicting the onset of NAFLD in different sex and body weight subgroups; the AUCs of LAP and VAI in the female subgroup were significantly higher than those in the male subgroup (LAP: 0.886 vs 0.785, P < 0.05; VAI: 0.824 vs 0.748, P < 0.05), and the corresponding sensitivities and specificities of LAP and VAI in the female subgroup were also higher than those in the male subgroup (sensitivity: LAP: 79.8% vs 63.7%; VAI: 77.9% vs 77.0%; specificity: LAP: 85.0% vs 81.1%; VAI: 77.6% vs 62.3%). Conclusion The risk of NAFLD increases with the increase in the levels of LAP and VAI. Both LAP and VAI have a good value in predicting NAFLD in different sex and body weight subgroups, especially in predicting NAFLD in the female population.

OBJECTIVE: To explore the genotype distribution of 5,10-methylenetetrahydrofolate reductase (MTHFR) and 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) among Chinese Han women in Zhengzhou. 
 METHODS: A total of 1 253 women were recruited from Zhengzhou city. The genotype of MTHFR C677T, A1298C and MTRR A66G was detected to analyze the distribution of gene polymorphisms and to compare them with the published data from other Han women.
 RESULTS: The frequency of the MTHFR 1298CC genotypes (1.3%) in Zhengzhou was lower than that in Xiangtan (4.8%), Yanbian (3.8%), Zhenjiang (3.5%), Jingzhou (3.2%), Kunming (2.7%), Deyang (6.3%), Huizhou (7.2%) and Wulumuqi (3.4%) (all P<0.05). The difference in allele frequency was significant compared with that in Yantai, Yanbian, Wulumuqi, Zhenjiang, Jingzhou, Kunming, Dezhou, Xiangtan or Huizhou (all P<0.05). The frequency of the MTRR 66GG genotypes (5.4%) in Zhengzhou was lower than that in Deyang (8.2%) (P<0.01) and allele frequency between them was significant difference (P<0.05). 
 CONCLUSION The gene polymorphism of MTHFR A1298C and MTRR A66G among the Han women in Zhengzhou is statistically different from that in some regions of China.
Alleles ; Asian Continental Ancestry Group ; genetics ; China ; Female ; Ferredoxin-NADP Reductase ; genetics ; Gene Frequency ; Genotype ; Humans ; Methylenetetrahydrofolate Reductase (NADPH2) ; genetics ; Polymorphism, Genetic

ObjectiveTo investigate the value of MELD 3.0， MELD， and MELD-Na scores in assessing the 90-day prognosis of patients with acute-on-chronic liver failure （ACLF） through a comparative study. MethodsA retrospective analysis was performed for the clinical data of 605 patients with ACLF who were treated in Tianjin Third Central Hospital， The Fifth Medical Center of Chinese PLA General Hospital， and Beijing YouAn Hospital from November 2012 to June 2019， and according to the 90-day follow-up results after admission， they were divided into survival group with 392 patients and death group with 213 patients. The receiver operating characteristic （ROC） curve， the area under the ROC curve （AUC）， net reclassification improvement （NRI）， integrated discrimination improvement （IDI）， and decision curve analysis （DCA） curve were used to investigate the value of MELD 3.0， MELD， and MELD-Na scores at baseline， day 3， week 1， and week 2 in predicting the prognosis of the disease. ResultsAt day 3 and week 1， MELD 3.0 score had an AUC of 0.775 and 0.808， respectively， with a better AUC than MELD score （P<0.05）. At day 3， week 1， and week 2， MELD 3.0 score showed an NRI of 0.125， 0.100， and 0.081， respectively， compared with MELD in predicting the prognosis of ACLF patients， as well as an NRI of 0.093， 0.140， and 0.204， respectively， compared with MELD-Na score in predicting prognosis. At baseline， day 3， week 1， and week 2， MELD 3.0 showed an IDI of 0.011， 0.025， 0.017， and 0.013， respectively， compared with MELD in predicting the prognosis of ACLF patients. At day 3 and week 2， MELD 3.0 showed an IDI of 0.027 and 0.038， respectively， compared with MELD-Na in predicting the prognosis of ACLF patients. All the above NRIs and IDIs were >0， indicating a positive improvement （all P<0.05）. DCA curves showed that MELD 3.0 was superior to MELD at day 3 and was significantly superior to MELD-Na at week 2. There was no significant difference in the ability of the three scores in predicting the prognosis of ACLF patients with different types， and there was also no significant difference in the ability of the three scores in predicting the prognosis of ACLF patients with the etiology of HBV infection， alcohol， or HBV infection combined with alcohol， while MELD 3.0 was superior to MELD for ACLF patients with other etiologies （P<0.05）. ConclusionMELD 3.0 score is better than MELD and MELD-Na scores in predicting the 90-day survival of patients with ACLF， but with limited superiority.