OBJECTIVE: This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province. METHODS: We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed. RESULTS: The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α ^3.7/αα (50.23%) and β ^IVS-II-654/β ^N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively. CONCLUSION Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
Humans ; beta-Thalassemia/genetics* ; alpha-Thalassemia/genetics* ; Hemoglobinopathies/genetics* ; China/epidemiology* ; High-Throughput Nucleotide Sequencing

Vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM) is a relatively rare side effect of vigabatrin, most of which are asymptomatic. However, there will be extremely rare cases with hyperkinetic disorders, myoclonus, tremor, and acute encephalopathy under certain circumstances. VABAM is often underappreciated by physicians and its accurate incidence remains unclear. A female infant who was diagnosed with infantile spasms and required adrenocorticotropic hormone therapy accompanied by various antiseizure medicines was reported. Unfortunately, she became lethargic and her spasm deteriorated gradually after vigabatrin exposure. Her brain magnetic resonance imaging revealed abnormal signals bilaterally in the dorsal midbrain, thalamus, and rostral part of the pallidum. She had a seizure amelioration and became lively as a result of vigabatrin withdrawal. In the meanwhile, magnetic resonance imaging returned to normal. Attempts were made to discover the risk factors of VABAM and potential pathogenesis. Further understanding of the disease should contribute to decreasing misdiagnosis and making precise decisions.

Platelets are reprogrammed by cancer via a process called education, which favors cancer development. The transcriptional profile of tumor-educated platelets (TEPs) is skewed and therefore practicable for cancer detection. This intercontinental, hospital-based, diagnostic study included 761 treatment-naïve inpatients with histologically confirmed adnexal masses and 167 healthy controls from nine medical centers (China, n = 3; Netherlands, n = 5; Poland, n = 1) between September 2016 and May 2019. The main outcomes were the performance of TEPs and their combination with CA125 in two Chinese (VC1 and VC2) and the European (VC3) validation cohorts collectively and independently. Exploratory outcome was the value of TEPs in public pan-cancer platelet transcriptome datasets. The AUCs for TEPs in the combined validation cohort, VC1, VC2, and VC3 were 0.918 (95% CI 0.889-0.948), 0.923 (0.855-0.990), 0.918 (0.872-0.963), and 0.887 (0.813-0.960), respectively. Combination of TEPs and CA125 demonstrated an AUC of 0.922 (0.889-0.955) in the combined validation cohort; 0.955 (0.912-0.997) in VC1; 0.939 (0.901-0.977) in VC2; 0.917 (0.824-1.000) in VC3. For subgroup analysis, TEPs exhibited an AUC of 0.858, 0.859, and 0.920 to detect early-stage, borderline, non-epithelial diseases and 0.899 to discriminate ovarian cancer from endometriosis. TEPs had robustness, compatibility, and universality for preoperative diagnosis of ovarian cancer since it withstood validations in populations of different ethnicities, heterogeneous histological subtypes, and early-stage ovarian cancer. However, these observations warrant prospective validations in a larger population before clinical utilities.
Humans ; Female ; Blood Platelets/pathology* ; Biomarkers, Tumor/genetics* ; Ovarian Neoplasms/pathology* ; China

【Objective】 Corin, a transmembrane serine protease that can cleave atrial natriuretic peptide precursor (pro-ANP) into atrial natriuretic peptide with smaller bioactive molecules, participates in the pathophysiological process of hypertension and cardiac hypertrophy. The purpose of this study was to explore the relationship of Corin gene variation with blood pressure responses to sodium and potassium dietary interventions. 【Methods】 In 2004, we recruited 514 participants from 124 families in 7 villages of Baoji, Shaanxi Province, China. All the subjects received a 3-day normal diet, a 7-day low-salt diet, a 7-day high-salt diet, and finally a 7-day high-salt and potassium supplementation. Fifteen single nucleotide polymorphisms (SNPs) of Corin gene were selected for final analysis. 【Results】 SNPs rs12509275 were significantly associated with diastolic blood pressure (DBP) response to low-salt diet, while rs3749584 was associated with pulse pressure (PP) response to low-salt diet.SNP rs3749584 and rs10517195 were significantly associated with PP response to high-salt diet. In addition,rs17654278 were significantly associated with systolic blood pressure (SBP) response to high-salt and potassium supplementation, rs2271037 was significantly correlated with DBP responses to high-salt and potassium supplementation, and rs4695253, rs12509275, rs2351783, rs36090894 were significantly associated with PP response to high-salt and potassium supplementation. 【Conclusion】 Corin gene polymorphisms were associated with blood pressure response to sodium and potassium, suggesting that Corin gene may be involved in pathophysiological process of salt sensitivity and potassium sensitivity.

AIM To isolate and identify the dominant strains in the fermentation process of the HuaFengDan YaoMu,and to investigate the effects of different temperatures and pH values upon their growth.METHODS During the 0-6 weeks fermentation process of HuaFengDan YaoMu in the selective medium,the cultured bacteria,the molds and the yeasts had the colonies counted,and the dominant strains isolated and purified,particularly the dominant bacteria and fungi determined by 16S rDNA and 26S rDNA sequences.The optimal growth temperature and pH value of Bacillus aryabhattai,Debaryomyces hansenii,Aspergillus oryzae were investigated respectively.RESULTS HuaFengDan YaoMu found its bacterial counts increased from 0 to 4 weeks and stabilized from 4 to 6 weeks;its yeast counts increased during 0-3 weeks,and decreased continuously during 4-6 weeks;and its mold counts remained unchanged at 0 week,but increased steadily from 1 to 4 weeks,and decreased at 5 to 6 weeks of the fermentation.In the fermentation process of HuaFengDan YaoMu,the dominant strains of Bacillus aryabhattai,Debaryomyces hansenii and Aspergillus oryzae,identified and screened out by the phylogenetic tree,adapted best to the growth temperature of 35℃,25-30℃and 35℃,at pH value of 8,6 and 7,respectively.CONCLUSION In the fermentation process of HuaFengDan YaoMu,the dominant microorganisms of Bacillus aryabhattai,Debaryomyces hansenii,Aspergillus oryzae are identifiable and separable.

Objective To explore the working mode of continuous malaria elimination. Methods Judong Village in Congjiang County, Guizhou Province, which had the highest record of malaria incidence in the history of Guizhou Province, was selected as a pilot, a comprehensive prevention and control intervention was carried out aiming at the malaria epidemic, transmission and influencing factors, and the effect was evaluated after the intervention. Results From 2015 to 2016, through those intensive measures of constructing system, improving environment and health education, the people’s awareness of malaria prevention was increased, the people’s enthusiasm and initiatives to participate in the prevention and control of malaria were improved in Judong Village. Meanwhile, the roads were hardened and beautified, the dispose of sewage, feces and garbage was centralized. The awareness rate of malaria prevention knowledge of residents increased to 85% to 95%, and the formation rate of anti-mosquito behavior increased to 89.66%. The density of media Anopheles reduced from 0.56 to 0.07 mosquitoes per hour each mosquito catching platform. Conclusion A long-term mechanism for malaria prevention and control has been almost constructed in Judong Village, which facilitates the consolidation of malaria control achievements, and the progress towards malaria elimination.

Child ; Child, Preschool ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; methods ; Male ; Pulmonary Valve Insufficiency ; diagnostic imaging ; Retrospective Studies ; Tetralogy of Fallot ; diagnostic imaging ; Ventricular Function, Right ; physiology

Growing clinical evidence shows that a partial rheumatoid arthritis( RA) patient treated with Tripterygium Glycosides Tablets( TGT) may fail to achieve clinical improvement. It is of great clinical significance to predict the therapeutic effect of TGT in RA. Therefore,the aim of the current study was to identify potential biomarkers for TGT treatment in RA. Affymetrix EG1.0 arrays were applied to detect gene expression in peripheral blood mononuclear cells obtained from 6 RA patients( 3 responders and 3 non-responders) treated with TGT. By integrating differential expression data analysis and biomolecular network analysis,360 mRNAs( 185 up-regulated and 175 down-regulated) and 24 miRNAs( 7 up-regulated and 17 down-regulated) which were differentially expressed between TGT responder and non-responder groups were identified. A total of 206 candidate target genes for the differentially expressed miRNAs were obtained based on miRanada and Target Scan databases,and then the miRNA target gene coexpression network and miRNA-mediated gene signal transduction network were constructed. Following the network analyses,three candidate miRNAs biomarkers( hsa-miR-4720-5 p,hsa-miR-374 b-5 p,hsa-miR-185-3 p) were identified as candidate biomarkers predicting individual response to TGT. Partialleast-squares( PLS) was applied to construct a model for predicting response to TGT based on the expression levels of the candidate gene biomarkers in RA patients. The five-fold cross-validation showed that the prediction accuracy( ACC) of this PLS-based model efficacy was 100.00%,100.00%,100.00%,66.67% and 66.67% respectively,and all the area under the receiver operating characteristic curve( AUC) were 1.00,indicating the highly predictive efficiency of this PLS-based model. In conclusion,the integrating transcription data mining and biomolecular network investigation show that hsa-mir-4720-5 p,hsa-mir-374 b-5 p and hsa-mir-185-3 p may be candidate biomarkers predicting individual response to TGT. In addition,the PLS model based on the expression levels of these candidate biomarkers may be helpful for the clinical screen of RA patients,which potentially benefit individualized therapy of RA in a daily clinical setting.
Arthritis, Rheumatoid ; drug therapy ; Biomarkers ; Data Mining ; Drugs, Chinese Herbal ; therapeutic use ; Glycosides ; therapeutic use ; Humans ; Leukocytes, Mononuclear ; MicroRNAs ; genetics ; Tablets ; Tripterygium ; chemistry

OBJECTIVETo investigate the risk factors for the development of congenital anal atresia in neonates.

METHODSA total of 70 neonates who were admitted to 17 hospitals in Foshan, China from January 2011 to December 2014 were enrolled as case group, and another 70 neonates who were hospitalized during the same period and had no anal atresia or other severe deformities were enrolled as control group. Univariate and multivariate logistic regression analyses were used to investigate the risk factors for the development of congenital anal atresia.

RESULTSThe univariate analysis revealed that the age of mothers, presence of oral administration of folic acid, infection during early pregnancy, and polyhydramnios, and sex of neonates showed significant differences between the case and control groups (P<0.05). The multivariate logistic regression analysis revealed that infection during early pregnancy (OR=18.776) and male neonates (OR=9.304) were risk factors for congenital anal atresia, and oral administration of folic acid during early pregnancy was the protective factor (OR=0.086).

CONCLUSIONSInfection during early pregnancy is the risk factor for congenital anal atresia, and male neonates are more likely to develop congenital anal atresia than female neonates. Supplementation of folic acid during early pregnancy can reduce the risk of congenital anal atresia.

Objective To investigate the clinical and immunological features,therapeutic response as well as prognosis of adult onset Still's disease (AOSD).Methods AOSD was diagnosed in 137 patients referred to our department.Clinical and immunological data were retrospectively analyzed.Therapeutic response and prognosis were systemically reviewed during the follow-up period.Intergroup incidence divergence was analyzed by chi-square test.Cox regression analysis was adopted to determine factors related with relapse.Results Fever,rash and arthritis were the cardinal clinical features of AOSD patients.Elevated inflammatory indices including ferritin (128 suhjects,97.1％ ) along with neutrophilia and liver dysfunction were the main laboratory findings.Ninety-eight patients were followed up and 75％ (73 subjects) had achieved complete remission after 4 weeks treatment.Forty-one patients (42％) who had achieved remission relapsed during follow-up period.Combination of glucocorticoid steroid and disease modifying antirheumatic drugs (DMARDs) were more effective than glucocorticoid steroid only in inducing remission and preventing relapse.More patients received glucocorticoid combined with methotrcxate and hydroxychloroquine achieved remission (8 of 8 patients) than patients who were treated with glucocorticoid and methotrexate (25 of 28 patients,89％ ) and those treated with glucocorticoid and hydroxychloroquine (14 of 16 patients,88％ ).Patients with glucocorticoid were more likely to suffer disease recurrence than those who took glucocorticoid combined with DMARDs (61％ vs 29％,P=0.004).Cox regression analysis suggested that methotrexate had protec-tive effect against recurrence [RR=0.418,95％CI (0.192-0.909),P=0.028].5％ of patients were diagnosed to other diseases during the follow up period.Conclusion Initial treatment with combined glucocorticoid and DMARDs is beneficial to induce remission and prevent reoccurrence.Methotrcxate has a protective effect against recurrence.