Objective To investigate the molecular defects of CYPl7A1 gene in a pedigree with two 46,XY patients suffering from 17α-hydroxylase deficiency (17-OHD) and explore the steroid biosynthetic difference in carriers of 17-OHD before and after adrenocorticotrophic hormone (ACTH) test.Methods Clinical data and hormone profiles were collected from the members of the pedigree.CYPl7A1 genotyping was performed in the patients and family members with PCR-direct sequencing.A short ACTH test was evaluated in some cases.Results The CYP17 genes of the patients were proved to hold a homozygous mutation with a base deletion and a base transversion (TAC/AA) in exon 6,which produced a missense mutation of Tyr→ Lvs at codon 329 and changed the open reading frame following this codon.The hormone response of the carriers after ACTH stimulation was abnormal between the patients and normal controls.Conclusion 17-OHD in this family was caused by CYP17A1 mutation (TAC329AA):some hormonal response to ACTH stimulation Was abnormal in carriers.

AIM:To demonstrate the inhibitoary effects of Longkai Granules(LKG) against experimental prostatic hyperplasia and evaluate its toxicity on animals taking the granules orally. METHODS: The prostate exponent,DNA content in prostate tissue、the activity of acid phosphatase in serum or the wet weight of spermatophores and testicles in normal immature mice and in the hyperplasia model mice induced by subcutaneous injecting testooslerone spropionate or by implanting of the urogenital sinus were determined after administrating of LKG intragastrically to the mice.The single maximum dosage of LKG in mice and its long-term(13 weeks) toxicity in Wistar rats and Beagle dogs in orally was evaluated. RESULTS: LKG could decrease the weights of prostates and DNA content in the tissue in the normal immature mice in the amount of 20 and 40 g/kg once a day.LKG,in the amount of both 10,20 and 40 g/kg for 10 days and 20 and 40 g/kg for 30 days,could inhibit the hyperplasia of ventral prostates in the model mice induced respectively by the injection of testooslerone spropionate and by implanting urogenital sinus.LKG,in the(amount) of 100 g/kg for 13 weeks to Wistar rats,would lead to prostatic atraphy in alight degree,and its epithelial cells change in shape from column to flat and prostatic cavity being small,which did not recover in 4 weeks after stopping administration of tested drug to the animals.The single maximum dosage by ig in mice was 200 g/kg.There was no significant toxicity reaction in rats in the amount of 10,40 and 100 g/kg for 13 weeks or in Beagle dogs in the amount of 12 and 60 g/kg for 13 weeks. CONCLUSION: LKG can inhibit the prostatic hyperplasia and shows no visible toxic reaction in animals orally.

Objective To investigate the mechanisms of oridonin inducing apoptosis on acute leukeamia NB4 cells and its mechanism. Methods NB4 cells in culture medium in vitro were given with different concentrations (8, 16, 24, and 32 μmol/L) of oridonin. The inhibitory rate of the cells was measured by MTT assay, cell apoptotic rate was detected by flow cytometry (FCM), morphology of apoptosis was observed by Hoechst 33258 fluorescence staining, DNA fragmentation was assayed by agarose gel electrophoresis, caspase-3 expression was detected by Western blotting, and caspase-3 activity was assayed with colorimetric assay kit before and after apoptosis occurred. Results Oridonin (over 16 μmol/L) could inhibit the growth of NB4 cells and cause apoptosis significantly, the suppression was both in a timeand dose-dependent manner. Marked changes of apoptosis including condensation of chromatin and nuclear fragmentation were observed very clearly by Hoechst 33258 fluorescence staining and a characteristic "ladder" of DNA fragments was elicited by agarose gel electrophoresis; Western blot analysis revealed that caspase-3 was activated by the loss of caspase-3 proenzyme (32 kDa) and the appearance of its 20 kDa subunit, and that along with the apoptotic process caspase-3 activity was increased concurrently. Conclusion Oridonin can induce apoptosis in NB4 cells via activation of caspase-3. These results will provide laboratory evidence for the clinical treatment of acute leukemia with oridonin.

Health management in the new era is significantly different from previous practices in terms of connotation, denotation, content, efficiency, and organizational framework. New health management systems utilize Internet technology, Internet of things, and artificial intelligence in order to manage individuals′ health in a comprehensive way. Reviewing the development of health management domestically and abroad, this article elaborates the connotations of health management and proposes that health management under the Healthy China strategy should focus on a combination of clinical care and prevention.

To investigate the clinical features, genetic diagnosis, and treatment of a patient with Prader-Willi syndrome(PWS). For a case with clinically suspected PWS, methylation specific PCR(MSPCR)amplification was applied to CpG islands of SNRPN(exon α)gene locus in the 15q11-q13. Furthermore, the diagnosis was comfirmed by the method of bisulfite sequencing PCR(BSPCR). Metabolic status before and after the operation of sleeve gastrectomy were compared. Absence of amplification of paternal allele on chromosome 15q11-q13 was detected in the case by MSPCR, different from the normal control. Results of BSPCR further proved a full methylation of CpG islands in the SNRPN gene locus. Four months after sleeve gastrectomy, systemic metabolic status and ventricular function were improved. MSPCR and BSPCR were both consistent with genetic diagnosis of PWS. Weight loss surgery is expected to be a major therapy of this disease.

Objective To analyze CYP17A1 gene mutation in a patient with 46,XY disordered sex development and to explore the possible influence on the phenotype of the patient.Methods Eight exons of CYP17AI gene in the patient and her parents were amplified and directly sequenced.In order to construct Mini-gene system,PCR fragments containing wildtype and mutant splicing sites were inserted in expression vector,and then transfected into cells.RT-PCR was used to observe the influence of splicing site mutation.Wildtype and aberrant splicing CYP17A1 cDNA expression plasmids were constructed and transfected into cells respectively,and CYP17A1 enzyme activity was tested in vitro.Results Mutation analysis revealed compound heterozygous CYP17A1 mutations,with Y329fs in one allele and a synonymous substitution( c.1263G＞A:GCG＞GCA) in another allele.In vitro analysis showed that the synonymous substitution induced a novel splicing site,which resulted in aberrant splicing of CYP17A1 mRNA and lacked six or seven amino acids after 415 in splicing product.In vitro transfection and enzyme activity experiment showed that the aberrant splicing product abolished the enzyme activity completely.However,this mutation did not completely influence splicing.The patient also had a part of normal splicing product,which was a coincidence to the phenotype of the patient.Conclusion This is the first description of an exonic splicing mutation in CYP17A1 relevant to the 17ot-hydroxylase deficiency phenotype.The functional study of the aberrant splicing variant has been initiated.

Objective To explore the anti-tumor effect of 17XL strains of Plasmodium yoelii(P.y)infection on melanoma in mice. Methods B16F10 tumor cells were axillarilly injected into the right flank of 20 C57BL/6 mice to establish tumor-bearing mouse models. The next day,the mice were randomly divided into a P.y infection group and control group,10 mice each group. Each mouse of the P.y infection group was intraperitoneally injected with 1×106 red blood cells including 20% P.y infection red blood cells,and each one of the control group were intraperitoneally injected with 1×106 normal red blood cells of C57BL/6 mice. The time of tumor formation of the mice in the two groups was observed and the tumor volumes were measured. Results The time of tumor formation in the P.y infection group[(11.30 ± 0.21)d]was significantly later than that in the control group [(10.40 ± 0.22)d](P < 0.05). From the tumors could be accurately measured to the study end point,both the tumors of mice in the two groups were growing,and the tumor volumes of mice in the P.y infection group were significantly less than those in the control group at each time point(all P < 0.05). The growth rate of tumors in the P.y infection group[(71.10 ± 6.29)mm3/d]was significantly slower than that in the control group[(302.80 ± 49.94)mm3/d](P < 0.05),and the growth rates of tumors every day in the P.y infection group were significantly slower than those in the control group(all P < 0.05). Conclusion The P.y in-fection can delay the occurrence of tumor and inhibit the growth of melanoma.

Objective To evaluate the effectiveness and safety of Yiyang Pill in preventing and treating cardiovascular adverse reactions in patients with traditional Chinese medicine(TCM)syndrome with qi and yin deficiency and thyroid stimulating hormone(TSH)inhibition after differentiated thyroid cancer(DTC)resection.Methods A randomized,double-blind,placebo-controlled clinical trial was conducted,and 120 patients with TSH inhibition after DTC surgery were enrolled and randomized into two groups in a 1∶1 ratio using SAS 9.4 software generated random tables.The control group received a placebo and TSH suppression therapy,whereas the treatment group received the Yiyang Pill and TSH suppression therapy.The treatment period was 3 months.The incidence of cardiovascular adverse reactions,blood pressure,blood lipids,thyroid function,the dosage of levothyroxine,the efficacy of TCM syndrome,and safety indicators were compared between the two groups.Multivariate Logistic regression was used to analyze the influencing factors of cardiovascular adverse reactions.Results The incidence of cardiovascular adverse reactions in the treatment group was lower than that in the control group(P<0.05),and the efficacy of TCM syndrome treatment was significantly higher than in the control group(P<0.05).The free tetraiodothyronine level in the treatment group was higher than that before treatment(P<0.05),and the systolic and diastolic blood pressure in the control group increased compared to those before treatment(P<0.05).No severe adverse events were observed in either group.Compared with the control group,the cardiovascular incidence in the treatment group was lower,and the cardiovascular incidence in the<100 μg/d group was lower than that in the group with≥100 μg/d before treatment.Conclusion The Yiyang Pill can reduce the incidence of cardiovascular adverse reactions in patients after DTC surgery,effectively improve TCM syndromes,and be safe to use.Yiyang Pill treatment is a protective factor for cardiovascular adverse reactions,and the dosage of levothyroxine≥100 μg/d was a risk factor.

Pilot areas have achieved initial success in capitation reform. On the other hand, challenges remain unsolved in terms of practical pathways, change of national medical insurance management system, related measures, incentives and allocative mechanism for implement of the reform. With the concerning on progress, practice, effects and challenges of typical areas, this article established an institutional framework. On such basis, we propose to design and refine a scheme in terms of 5 aspects, namely strengthening the basic medical care packages′financing, setting contents and standard of the basic medical care packages rationally, establishing effective evaluation system and formulating supporting measures.

Objective:To analyze the psychological anxiety and social support of HBV-carrying pregnant women and healthy pregnant women, and provide a reference for improving nursing interventions for hepatitis B virus (HBV) -carrying pregnant women.Methods:In this cross-sectional study, totally 314 pregnant women with HBV who attended outpatient services, established health files and had clear test results in a Beijing infectious disease specialist hospital from March to April 2019, and in two other ClassⅢ Grade A hospitals in the same period 420 healthy pregnant women were selected by convenient sampling. The Sociodemographic questionnaire, Self-Anxiety Scale (SAS) and Social Support Rating Scale (SSRS) were used to investigate the pregnant women.Results:There were statistically significant differences between HBV-carrying pregnant women and healthy pregnant women in education level, household registration status, family monthly income per capita, type of medical insurance, duration of pregnancy, status of pregnancy and subjective support scores ( P<0.05) . Multiple linear regression analysis controlling related factors found that whether the pregnant women carried the HBV had no effect on their psychological anxiety ( P>0.05) , and support utilization score, age, pregnancy days and education level affected the psychological anxiety of pregnant women ( P<0.05) .There was no statistically significant difference in SAS scores between the two groups of pregnant women ( t=-0.965, P>0.05) . Conclusions:The status of HBV carrying will not affect pregnant women's psychological anxiety, and factors such as social support utilization, education level, pregnancy days and age will have effect on pregnant women's psychological anxiety. It is recommended to take corresponding intervention measures to improve the utilization of social support, thereby alleviating the psychological anxiety of pregnant women.