Background/Aims: Low educational attainment is a well-established risk factor for nonalcoholic fatty liver disease (NAFLD) in developed areas. However, the association between educational attainment and the risk of NAFLD is less clear in China. Methods: A cross-sectional study including over 200,000 Chinese adults across mainland China was conducted. Information on education level and lifestyle factors were obtained through standard questionnaires, while NAFLD and advanced fibrosis were diagnosed using validated formulas. Outcomes included the risk of NAFLD in the general population and high probability of fibrosis among patients with NAFLD. Logistic regression analysis was employed to estimate the risk of NAFLD and fibrosis across education levels. A causal mediation model was used to explore the potential mediators. Results: Comparing with those receiving primary school education, the multi-adjusted odds ratios (95% confidence intervals) for NAFLD were 1.28 (1.16 to 1.41) for men and 0.94 (0.89 to 0.99) for women with college education after accounting for body mass index. When considering waist circumference, the odds ratios (95% CIs) were 0.94 (0.86 to 1.04) for men and 0.88 (0.80 to 0.97) for women, respectively. The proportions mediated by general and central obesity were 51.00% and 68.04% for men, while for women the proportions were 48.58% and 32.58%, respectively. Furthermore, NAFLD patients with lower educational attainment showed an incremental increased risk of advanced fibrosis in both genders. Conclusions In China, a low education level was associated with a higher risk of prevalent NAFLD in women, as well as high probability of fibrosis in both genders.

OBJECTIVE: To analyze the prenatal diagnosis, parental verification and pregnancy outcome of 6 fetuses with 22q11.2 microdeletion syndrome. METHODS: Copy number variation sequencing (CNV-seq)and chromosomal microarray analysis (CMA) were carried out for the fetuses. RESULTS: The fetuses were found to harbor 2.54-3.2 Mb microdeletions of the 22q11.2 region, among which one was maternally inherited and one was paternally inherited. Two parents opted to continue with the pregnancy, and 4 chose induced labor. One fetus was found to have tetralogy of Fallot, while two carrier parents and one fetus appeared to have normal phenotype. CONCLUSION 22q11.2 microdeletions identified upon prenatal diagnosis should be treated carefully, with ultrasonic scan and parental verification taken into account.
DNA Copy Number Variations ; Female ; Fetus ; Humans ; Microarray Analysis ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Ultrasonography, Prenatal

Background: Subclinical hypothyroidism (SCH) is the most common thyroid dysfunction, and its relationship with blood pressure (BP) has been controversial. The aim of the study was to analyze the association between SCH and newly-diagnosed hypertension. Methods: Based on data from the Thyroid disease, Iodine nutrition and Diabetes Epidemiology (TIDE) study, 49,433 euthyroid individuals and 7,719 SCH patients aged ≥18 years were enrolled. Patients with a history of hypertension or thyroid disease were excluded. SCH was determined by manufacturer reference range. Overall hypertension and stage 1 and 2 hypertension were diagnosed according to the guidelines issued by the American College of Cardiology/American Heart Association in 2017. Results: The prevalence of overall hypertension (48.7%), including stage 1 (28.9%) and 2 (19.8%) hypertension, increased significantly in SCH patients compared with euthyroid subjects. With elevated serum thyroid stimulating hormone (TSH) level, the hypertension prevalence also increased significantly from the euthyroid to different SCH subgroups, which was more profound in females or subjects aged <65 years. The age- and sex-specific regression analysis further demonstrated the same trends in the general population and in the 1:1 propensity matched population. Similarly, several BP components (i.e., systolic, diastolic, and mean arterial BP) were positively associated with TSH elevation, and regression analysis also confirmed that all BP components were closely related with SCH in female subjects aged <65 years. Conclusion The prevalence of hypertension increases for patients with SCH. SCH tends to be associated with hypertension and BP components in females younger than 65 years.

Background: Subclinical hypothyroidism (SCH) is the most common thyroid dysfunction, and its relationship with blood pressure (BP) has been controversial. The aim of the study was to analyze the association between SCH and newly-diagnosed hypertension. Methods: Based on data from the Thyroid disease, Iodine nutrition and Diabetes Epidemiology (TIDE) study, 49,433 euthyroid individuals and 7,719 SCH patients aged ≥18 years were enrolled. Patients with a history of hypertension or thyroid disease were excluded. SCH was determined by manufacturer reference range. Overall hypertension and stage 1 and 2 hypertension were diagnosed according to the guidelines issued by the American College of Cardiology/American Heart Association in 2017. Results: The prevalence of overall hypertension (48.7%), including stage 1 (28.9%) and 2 (19.8%) hypertension, increased significantly in SCH patients compared with euthyroid subjects. With elevated serum thyroid stimulating hormone (TSH) level, the hypertension prevalence also increased significantly from the euthyroid to different SCH subgroups, which was more profound in females or subjects aged <65 years. The age- and sex-specific regression analysis further demonstrated the same trends in the general population and in the 1:1 propensity matched population. Similarly, several BP components (i.e., systolic, diastolic, and mean arterial BP) were positively associated with TSH elevation, and regression analysis also confirmed that all BP components were closely related with SCH in female subjects aged <65 years. Conclusion The prevalence of hypertension increases for patients with SCH. SCH tends to be associated with hypertension and BP components in females younger than 65 years.

OBJECTIVE: To analyze the clinical symptom and parental origin of patients with MECP2 duplication syndrome in order to provide a basis for genetic counseling and prenatal diagnosis. METHODS: Clinical symptoms of four patients who were diagnosed with MECP2 duplication syndrome by copy number variation sequencing (CNV-Seq) were reviewed. The maternal origin of the duplications were verified. RESULTS: All patients were males, and CNV-Seq revealed that they have all harbored a duplication in the Xq28 region spanning 0.32 ~ 0.86 Mb, which were derived from asymptomatic mothers. The clinical symptoms of three patients with three copies included delayed speech, intellectual disability, and muscular hypotonia, while the patient with four copies had died at 6 months after birth, with clinical symptoms including recurrent infections, seizures, and spasticity. CONCLUSION The four cases of MECP2 duplication syndrome have shown complete penetrance and have all derived from asymptomatic mothers. As a stable and reliable method, CNV-Seq can accurately detect the MECP2 duplication syndrome.
Chromosomes, Human, X ; DNA Copy Number Variations ; Gene Duplication ; Humans ; Male ; Mental Retardation, X-Linked ; Methyl-CpG-Binding Protein 2/genetics* ; Phenotype

Objective To investigate the expression alteration and significance of long non-coding RNA (lncRNA)by GWAS(Genome-wide association study)between Esophageal squamous cell carcinoma(ESCC)and its adjacent normal esophageal tissues. Methods lncRNA and mRNA differential expression in 6 pairs of ESCC and matched non-cancerous tissues were screened by microarray assay. The target genes were predicted. Finally , GO(Gene Ontology)and Pathway analysis was used for the further research of lncRNA. Results A total of 680 lncRNA and 1472mRNA were differentially expressed at more than two-fold change(P ≤ 0.05,with 161lncRNA and 653mRNA up-regulated,519lncRNA and 819mRNA down-regulated between ESCC and its adjacent normal esophageal tissues. Gene ontology and pathway analysis results suggested that the differentially expressed genes were involved in 11 pathways.Theyare potentially associated with esophageal squamous cell carcinoma ,including post-translational protein modification ,mucin type O-Glycan biosynthesis and sphingolipid metabolism pathways , which mainly related to the changes of molecular function ,cellular components and biological processes. Through cis and trans analysis,a total of 15 differentially expressed lncRNA had cis-and/or trans-regulated target genes in the database,with 13 lncRNA had cis-regulated target genes,3 lncRNA had trans-regulated target genes,and 1 lncRNA had both cis- and trans-regulated target genes. Conclusion Compared with adjacent normal tissues ,a large number of lncRNA were expressed differentially in ESCC in Xinjiang Han people.Aberrantly expressed lncRNA may play important roles in ESCC development and progression through some signaling pathways ,which are of great significance for further search of new targets for the diagnosis and treatment of ESCC.

Objective To analyze the correlation between miR-31 and ESCC in expression of miR-31 in the plasma of ESCC in Xinjiang Kazak and Han nationality patients. Methods The plasma samples were collected respectively from patients with ESCC in 20 cases and healthy subjects in 20 cases. The relatively expression of miR-31 was detected by real-time Q-PCR. Results The expression of miR-31 with ESCC were higher than those of the normal control group, which related to the degree of tumor differentiation in Kazak ESCC patients (P < 0.01); the levels of miR-31 relative expression in Kazak were higher than that of Han (P = 0.008, P = 0.027). Conclusion miR-31 may be involved in the occurrence of ESCC in Han and Kazak nationality. miR-31 might be another risk factor in high incidence of ESCC in Kazak than Han nationality.

Objective To establish a Chinese hamster model of babesia infection, to find the changing pattern of organs and biochemical parameters in Chinese hamster infected with Babesia, and to promote the detection and treatment of babesiosis.Methods Healthy 5-week old Chinese hamsters were infected by intraperitoneal injection of blood containing Babesia.Blood samples were collected at 0, 2, 4, 6, 8, 10, 12, 14, 16, 23, 30, and 37 days after infection from 5 hamsters at each time point.Blood smears were prepared to detect the parasites using Giemsa staining.ELISA assay was employed to test the IL-2 concentration.The blood biochemical indexes were detected using an automatic biochemical analyzer.DNA was extracted from the whole blood and REAL-TIME RCR was performed to determine the reproduction of Babesia.Aftert the animals were sacrificed, the heart, lung, spleen, liver, and kidney were taken to analyze the changes of organ coefficients.Results The highest level of Babesia in the hamsters occurred on day 4 after the Babesia injection, and then showing a decreasing tendency.However, there was a transient increase on the 12th day after infection.The liver and spleen displayed most extensive response to the infection showing hepatomegaly and splenomegaly, but the variation of heart and kidneys coefficients was within the norm.There were prominent changes of blood cells, especially leucocytes, with two peaks at day 10 and 23 after the Babesia infection.The peak changes of blood biochemical indexes occurred at day 12 after infection.The concentration of serum IL-2 reached a peak on the 10th day after infection.Conclusions The Chinese hamsters display typical characteristics of tick-borne diseases such as hepatomegaly and splenomegaly.The immunological system is activated along with the infection and reaches a highest stage in the second week.Afterwards the Babesia can live in the hamster body for a long period of time.The results of this study provide useful information supporting further studies on the detection, treatment and prevention of Babesiosis.

Ten compounds were isolated and purified from the ethyl acetate fraction of Houttuynia cordata by silica gel and ODS column chromatographies. The chemical structures of the compounds were identified on the basis of physicochemical properties as well as spectral data. These isolated compounds were elucidated as sequinoside L(1), a new phenolic glycoside, together with nine known compounds, including sequinoside K(2), methyl chlorogenate(3), chlorogenic acid(4), hydroquinone(5), vanillic acid(6), hyperin(7), isoquercitrin(8), quercetin(9), and quercitrin(10). In addition, the anti-inflammatory activities of compounds 1-10 were evaluated in LPS-induced RAW264. 7 macrophages. Among them, compounds 1, 2, 6 and 9 showed potent anti-inflammatory activity which was similar to that of positive control dexamethasone.