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

Sophoridine is a quinolizidine alkaloid extracted from Sophora in legumes, which is one of the main active ingredients of Sophora alopecuroides L, Sophora flavescentis Ait and Sophora davidii (Franch.) skeels. Its molecular formula is C

Freshly collected seeds of Amomum tsaoko demonstrate obvious dormancy. Therefore, the selection of stable reference genes during seed dormancy release is very important for the subsequent functional research of related genes. In this study, ten commonly used reference genes(GAPDH, 40S, actin, tubulin, EIF4A-9, EIF2α, UBC, UBCE2, 60S, and UBQ) were selected as candidates for quantitative Real-time polymerase chain reaction(qRT-PCR) of the embryo samples of A. tsaoko at different dormancy release stages. Three kinds of software(BestKeeper, geNorm, and Normfinder) and the Delta CT method were used to evaluate the expression stability of the candidate reference genes, and the RefFinder online tool was employed to integrate the results and generate a comprehensive ranking. The results showed that the expression levels of the ten candidate reference genes differed greatly in different embryo samples. GAPDH and UBC had high expression levels, as manifested by the small Ct values. GeNorm identified 40S and UBCE2 as the most stable genes. NormFinder ranked EIF2α as the most stable gene and UBC as the least stable gene. UBCE2 was found to be the most stable gene and actin the least stable one by BestKeeper. Delta CT analysis suggested that the expression of 40S was most stable. UBCE2 was recommended as the most stably expressed gene by RefFinder. Thus, UBCE2 is the ideal reference gene for qRT-PCR analysis of A. tsaoko seeds at different dormancy release stages. The results may lay a foundation for analyzing the expression of related genes during seed dormancy release of A. tsaoko.
Amomum ; Gene Expression Profiling ; Real-Time Polymerase Chain Reaction ; Reverse Transcriptase Polymerase Chain Reaction ; Seeds/genetics*

To scientifically evaluate the intervention effect of Chinese medicine preventive administration(combined use of Huo-xiang Zhengqi Oral Liquid and Jinhao Jiere Granules) on community population in the case of coronavirus disease 2019(COVID-19), a large cohort, prospective, randomized, and parallel-controlled clinical study was conducted. Total 22 065 subjects were included and randomly divided into 2 groups. The non-intervention group was given health guidance only, while the traditional Chinese medicine(TCM) intervention group was given two coordinated TCM in addition to health guidance. The medical instructions were as follows. Huoxiang Zhengqi Oral Liquid: oral before meals, 10 mL/time, 2 times/day, a course of 5 days. Jinhao Jiere Granules: dissolve in boiling water and take after meals, 8 g/time, 2 times/day, a course of 5 days, followed up for 14 days, respectively. The study found that with the intake of medication, the incidence rate of TCM intervention group was basically maintained at a low and continuous stable level(0.01%-0.02%), while the non-intervention group showed an overall trend of continuous growth(0.02%-0.18%) from 3 to 14 days. No suspected or confirmed COVID-19 case occurred in either group. There were 2 cases of colds in the TCM intervention group and 26 cases in the non-intervention group. The incidence of colds in the TCM intervention group was significantly lower(P<0.05) than that in the non-intervention group. In the population of 16-60 years old, the incidence rate of non-intervention and intervention groups were 0.01% and 0.25%, respectively. The difference of colds incidence between the two groups was statistically significant(P<0.05). In the population older than 60 years old, they were 0.04% and 0.21%, respectively. The incidence of colds in the non-intervention group was higher than that in the intervention group, but not reaching statistical difference. The protection rate of TCM for the whole population was 91.8%, especially for the population of age 16-60(95.0%). It was suggested that TCM intervention(combined use of Huoxiang Zhengqi Oral Liquid and Jinhao Jiere Granules) could effectively protect community residents against respiratory diseases, such as colds, which was worthy of promotion in the community. In addition, in terms of safety, the incidence of adverse events and adverse reactions in the TCM intervention group was relatively low, which was basically consistent with the drug instructions.
Adolescent ; Adult ; Betacoronavirus ; Coronavirus Infections ; drug therapy ; Drugs, Chinese Herbal ; Humans ; Medicine, Chinese Traditional ; Middle Aged ; Pandemics ; Pneumonia, Viral ; drug therapy ; Prospective Studies ; Young Adult

OBJECTIVE: To evaluate the efficacy and safety of Tongxiening Granules (, TXNG) in the treatment of irritable bowel syndrome with predominant diarrhea (IBS-D). METHODS: A randomized, double-blind, double-dummy, and positive parallel controlled clinical trial was conducted from October 2014 to March 2016. Totally 342 patients from 13 clinical centers were enrolled and randomly assigned (at the ratio of 1:1) to a treatment group (171 cases) and a control group (171 cases) by a random coding table. The patients in the treatment group were administered orally with TXNG (5 g per time) combined with pinaverium bromide Tablet simulator (50 mg per time), 3 times per day. The patients in the control group were given TXNG simulator (5 g per time) combined with pinaverium bromide Tablets (50 mg per time), 3 times per day. The treatment course lasted for 6 weeks. The improvement of Irritable Bowel Syndrome Symptom Severity Score (IBS-SSS) was used to evaluate the primary outcome. Secondary outcomes included adequate relief (AR) rate, Irritable Bowel Syndrome-Quality of Life Questionnaire (IBS-QOL), Hamilton Anxiety Scale (HAMA), Hamilton Depression Scale (HAMD), and the recurrence rate at follow-ups. Safety indices including the adverse events (AEs) and related laboratory tests were evaluated. RESULTS: Primary outcome: IBS-SSS at baseline, weeks 2, 4, 6 showed no statistical significance in both full analysis set (FAS) and per protocol set (PPS, P>0.05). After 6 weeks of treatment, the total effective rate of IBS-SSS scores in the treatment group (147/171,86.0%) was higher than the control group (143/171, 83.6%) by FAS (P>0.05). In regard to secondary outcomes, after 6-week treatment, there was no significant difference in AR rate, total score of IBS-QOL, improvement of HAMD and HAMA total scores between the two groups (P>0.05). The recurrence rate at 8-week follow-up was 12.35% (10/18) in treatment group and 15.79% (12/76) in control group, respectively (P>0.05). A total of 21 AEs occurred in 15 cases, of which 11 occurred in 8 cases in the treatment group and 10 AEs in 7 cases in the control group. The incidence of AEs had no statistical significance between the two goups (P>0.05). CONCLUSION Tongxiening Granules could relieve the symptoms of patients with IBS-D and the treatment effect was comparable to pinaverium bromide. (No. ChiCTR-IPR-15006415).

Objective: To investigate the effect of parathyroid hormone (PTH) on the bone healing of mandibular ramus osteotomy. Methods: The mandibular ramus osteotomy model was established in sixty rabbits and these rabbits were randomly divided into experimental group A, experimental group B and control group. In the experimental group A and experimental group B, the rabbits were given PTH (20 and 40 μg/kg respectively) every other day after operation. In the control group, 1 ml saline was given. The animals were sacrificed at 1 week, 2 weeks, 3 weeks and 4 weeks postoperatively. The new bone formation was observed by histology and cone bone CT. The expression of osteoprotegerin and receptor activator of nuclear factor kappa-B (RANKL) in the new bone was detected by real-time quantitative PCR. Results: The experimental groups has better osteogenesis and the bone mineral density than the control group in osteotomy area. The experimental group B showed the best osteogenesis.Osteoprotegerin mRNA expression in experimental group A (1.127±0.035, 1.742±0.049, 1.049±0.062, 1.063±0.036) was significantly higher than that in the control group in each period (0.965±0.082, 1.254±0.071, 0.793±0.061, 0.684±0.055) (P=0.010, P=0.000, P=0.001, P=0.020), while group B (1.416±0.205, 2.648±0.168, 1.652±0.091, 1.712±0.070) was significantly higher than group A (P=0.000, P=0.010, P=0.023, P=0.003). RANKL mRNA expression in control group (1.666±0.086, 1.058±0.105, 0.885±0.124, 0.972±0.136) was significantly higher than that of the group A (0.788±0.036, 0.585±0.017, 0.692±0.017, 0.527±0.051) (P=0.001, P=0.006, P=0.003, P=0.028) in each period, while group A was significantly higher than group B(0.247±0.022, 0.240±0.034, 0.134±0.011, 0.103±0.050) (P=0.000, P=0.001, P=0.002, P=0.012). Conclusions PTH can upregulate the expression of osteoprotegerin and reduce expression of RANKL, thus promoting new bone formation. Intermittent administration of high dose of parathyroid hormone can further promote the healing process after mandibular ramus osteotomy.

General anesthesia is an unconscious state induced by anesthetics for surgery. The molecular targets and cellular mechanisms of general anesthetics in the mammalian nervous system have been investigated during past decades. In recent years, K channels have been identified as important targets of both volatile and intravenous anesthetics. This review covers achievements that have been made both on the regulatory effect of general anesthetics on the activity of K channels and their underlying mechanisms. Advances in research on the modulation of K channels by general anesthetics are summarized and categorized according to four large K channel families based on their amino-acid sequence homology. In addition, research achievements on the roles of K channels in general anesthesia in vivo, especially with regard to studies using mice with K channel knockout, are particularly emphasized.
Anesthetics, General ; pharmacology ; therapeutic use ; Animals ; Humans ; Potassium Channels ; metabolism

Objective To discuss the safety and short-term efficacy of MR-guided focused ultrasound surgery (MRgFUS) for pain palliation of bone metastases patients.Methods Fourteen patients with painful bone metastases were recruited in this prospective study.The treating efficacy was characterized by numerical rating scale (NRS),the brief pain inventory quality of life (BPI-QOL) survey,and Karnosky performance status scale (KPS).Adverse events occurred pre-and post-treatment were analyzed.Normal distributed statistics was analyzed by using paired-samples t test or Wilcoxon rank sum test.Results Fourteen patients were treated with MRgFUS,2 patients dropped out of the study.The NRS ratings are 6.50(4.00),5.00 (5.25),2.50(5.00),2.50(4.75),2.00 (6.00) for pre-treatment,one week,one month,two months,and three months,respectively.Such variances of NRS ratings were statistically significant (Z=-2.773,-2.740,-2.769,-2.675;P＜0.05).The BPI-QOL ratings were (42.42± 8.27),(30.67 ± 12.29),(29.17±15.38),(29.92± 17.67) and (35.67± 19.28),respectively.The BPI-QOL ratings decreased in the first two months after the treatment which is statistically significant (t=3.231,2.820 and 2.453;P＜0.05);whereas for the third month,the BPI-QOL rating was statistically insignificant compared with the one before the treatment (P＞0.05).The KPS ratings were 80(28),80(20),65(45) for pre-treatment,one week and three months after treatment,respectively.Three months after the treatment,the KPS ratings decreased which was statistically significant compared with the one before the treatment (Z=-2.204,P＜0.05).After the treatment,one patient developed deep venous thrombosis,three patients reported lower extremities numbness,two patients had soft tissue edema around the lesions.Conclusions MRgFUS is effective for short-term pain palliation of bone metastases.Such noninvasive technique is safe and can improve patients' living condition.

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.

Objectives To explore the effect of transient continuous subcutaneous insulin infusion (CSII) on β cell function, insulin resistance and vascular endothelial injury in newly diagnosed type 2 diabetic patients and its potential mechanism. Methods Ten patients with newly diagnosed type 2 diabetes mellitus (T2DM) accepted CSII for two weeks. Intravenous glucose tolerance test (IVGTT) and hyperinsulinemia euglycemia clamp test were performed before and after CSII. Serum soluble E-selectin (sE-selectin) was used to evaluate the injury of vascular endothelial cell, while serum high sensitivity C reactive protein (hsCRP) and soluble CD_(14) (sCD_(14)) were both used to assess inflammatory condition. Results (1) Compared with those before treatment, the blood glucose levels of IVGTT, the area under the curve of the blood glucose, glycosylated hemoglobin, TC and LDL-C in the patients were decreased after CSII (P < 0. 05 or 0. 01). (2) Compared with those before treatment, the insulin levels of IVGTT (except the fasting insulin), the area under the curve of insulin and acute insulin response were all increased after CSII(P < 0.05 or 0.01). (3) Compared with that before treatment, the glucose infusion ratio in the clamp test [(3.46±1.66)mg·kg~(-1)·min~(-1) increased to (7.14±2.37)mg·kg~(-1)·min~(-1)]and HOMA-β elevated, while HOMA-IR declined (P <0. 05 or 0. 01 in all). (4) Compared with those before treatment, the levels of serum sE-selectin, sCD_(14) and hsCRP were decreased (P < 0. 01, except for hsCRP) . Conclusion Transient intensive insulin therapy in patients with newly diagnosed T2DM is useful to restore 13 cell function, attenuate insulin resistance, repair vascular endothelial injury and improve the disorder of blood sugar and lipid. The mechanism may be related with the inhibition of inflammation in patients.