OBJECTIVE:To establish the quality standard for Embelia laeta. METHODS:TLC was adopted for the qualitative identification. HPLC was adopted for the content determination of embelin:the column was Waters C18 with mobile phase consisted of methanol-5%methanoic acid(90∶10,V/V)at a flow rate of 0.9 ml/min,the detection wavelength was 288 nm,the column tem-perature was 40 ℃,nd the injection volume was 10 μl. RESULTS:The TLC of E. laeta showed clear spots and good separation. The linear range of embelin was 4.012-40.12 μg/ml(r=0.999 4);RSDs of precision,stability and reproducibility tests were lower than 2%;recovery was 96.54%-99.57%(RSD=1.20%,n=6). CONCLUSIONS:The established standard can be used for the quality control of E. laeta.

Objective To prepare a peptide monoclonal antibody (McAb)against human papillomavirus 18E6 separately,and identify its specificity and pathogenicity.Metheds The advantage epitope peptide was designed and synthesized by ABCpred and Bcepred,and then used to immunize BALB/c mice after coupling with bovine serum albumin (BSA).And the McAb was prepared by hybridoma technique.HPV18E6 gene was amplified from cervical swab specimen containing HPV18 and insert-ed into expression vector pET-28a.The constructed recombinant plasmid was transformed to E.coli BL21(DE3)for expres-sion under induction of isopropyl thio-β-D-galactoside.The expressed protein was used to identified the McAb had been pre-pared.Results The hybridoma cell lines could constantly produce MAbs against HPV18E6 peptides.Sequencing proved that recombinant plasmid pET-28a-HPV18E6 was constructed correctly.Western blotting showed that the anti-HPV18E6 pep-tides antibody could specifically recognize HPV18E6.Conclusion A monoclonal antibody against the advantage epitope pep-tide of human papillomavirus 18E6 prepared could specifically recognize HPV18E6 specifically.

Objective To introduce the competing risk model into outcome prediction of mild cognitive impairment (MCI) of seniors and to explore influencing factors for the prognosis of MCI to Alzheimer' s disease (AD).Methods Data were collected from six follow-up visits to 600 seniors from communities in Taiyuan city,which were conducted at an interval of six months from October 2010 to May 2013.MCI state was defined as the transient state,AD and death before AD as two absorbing states (death before AD in which was regarded as a competing risk event),building the competing risk model to identify the model parameters,and to explore influencing factors on MCI prognosis to AD.In the meantime,the 3-year MCI-AD transition probability was estimated based on the multi-state Markov model.Results Based on screening with the multivariate competing risk model analysis,factors such as higher age (estimate HR=1.56,95％CI:1.01-2.39),female gender (HR=1.72,95％CI:1.02-2.92),higher education(HR=0.64,95％CI:0.41-1.00),reading frequently (HR=0.57,95％CI:0.32-0.99),hypertension (HR=3.43,95％CI:1.08-10.85) and high SBP(HR=1.67,95％CI:1.04-2.66),were statistically significant for transition from MCI to AD in three years.3-year MCI-AD transition probability was 10.7％(95％CI:8.6％-13.2％).Conclusion Age,gender,education,reading and blood pressure were the influencing factors for the prognosis of MCI to AD.Competing risk model was advantageous in studying longitudinal data with multiple potential outcomes.

Objective To investigate the influence of perceptions and emotional attitudes on the public's willingness to organ donation and its path of promotion. Methods The mediation effect and structural equation models were established through the convenience sampling method and with ABC attitude model as the theoretical basis to analyze the influence of perceptions and emotional attitudes on the public's willingness to organ donation and the path of promotion. Results Among 4 565 investigated subjects, 621 subjects expressly stated that they were not willing to donate their organs after the death, 701 subjects were willing to donate their organs after the death, but only 259 investigated subjects signed the informed content card of organ donation. The differences in the subjects' willingness to donate their organs were statistically significant in terms of different genders, ages, religious beliefs, places of residence and educational degrees (all P < 0.05). The overall Cronbach's α coefficient of the questionnaire was 0.781, KMO=0.842, with good reliability and validity. In the structural equation model, the path coefficient of perceptions on the willingness to donation was 0.39, while that of attitudes on the willingness was 0.25. As such, perceptions and emotional attitudes had positive impacts on the willingness to donate the organs. The results of the mediation effect model indicated that attitudes played significant mediation effects in the causality relationship of perceptions on the willingness to donate organs, and the mediation effect value was 0.035(P < 0.01). The awareness degree of organ donation was the largest determinant to the perception factor, and the path coefficient on the willingness to donation was 0.20. The sense of social honor was the largest determinant to the attitude factor, and the path coefficient was 0.16. Conclusions Both perceptions and emotional attitudes positively impact the willingness to donate organs. The awareness degree of organ donation is the largest determinant to the perception factor, while the sense of social honor is the largest determinant to the attitude factor. To improve the public's perception level towards the organ donation and increase the public's sense of social honor towards organ donation contributes to the improvement of the public's willingness to donate organs.

ABSTARCT Purpose To investigate the clinicopathologic characteristics and genetic mutations of metastatic follicular thy-roid carcinoma(FTC).Methods A total of 22 cases of meta-static FTC were collected,including previous medical history,imaging,treatments and outcomes,and next-generation sequen-cing study and Sanger sequencing were performed in 12 cases.Results There were 16 women and 6 men.Sixteen cases were older than 50 years.Seven cases presented with metastases as the first symptom.Fourteen cases developed metastases 3 to 12 years after thyroid surgery.Sixteen cases developed bone metas-tasis,10 cases had lung metastasis,and 3 cases had brain me-tastasis.Those patients with multiple bone metastases progressed during the follow-up period.The common gene mutations in me-tastases were NRAS p.Q61R(6 cases),HRAS p.Q61R(2 ca-ses)and KRAS p.Q61R(1 case),followed by TERT promoter mutation(8 cases).Other mutated genes included KEL,BRCA1/2,ALK,ROS1,ErbB4,etc.Conclusion FTC has a high misdiagnosis rate.Those diagnosed with FTC should under-go regular systemic examinations to detect potential metastasis,especially in bone,lung,and brain.Further research on the sig-nificance of NRAS and other molecular indicators in FTC metas-tasis will help to better predict its biological behaviors.

OBJECTIVE: To explore the clinical characteristics and molecular pathogenesis of a child with autosomal dominant polycystic kidney disease (ARPKD). METHODS: Prenatal ultrasound, clinical feature and family history of the child were analyzed. Whole exome sequencing was carried out for the child. Candidate variants were verified by Sanger sequencing. RESULTS: The child has featured premature birth with very low weight, neonatal respiratory distress, metabolic acidosis, and congenital nephrotic syndrome. Gene sequencing revealed that he has harbored compound heterozygous variants of the PKHD1 gene (NM_138694), including c.3885T>A (p.Tyr1295*) in exon 32 and c.7812_7816dupTGATA (p.Thr2606Metfs*63) in exon 49, which were respectively inherited from his mother and father. CONCLUSION The compound heterozygous variants of the PKHD1 gene probably underlay the disease in this child.
Child ; Exons ; Female ; Genetic Testing ; Humans ; Infant, Newborn ; Male ; Mutation ; Polycystic Kidney, Autosomal Recessive/genetics* ; Pregnancy ; Receptors, Cell Surface/genetics*

OBJECTIVE: To explore the genetic basis for a child featuring Chediak-Higashi syndrome (CHS). METHODS: Clinical manifestations and results of auxiliary examination of the proband were analyzed. The proband was subjected to whole exome sequencing, and the results were verified by Sanger sequencing. Correlation between the genotype and clinical phenotype was analyzed. RESULTS: The proband showed partial skin albinism, recurrent respiratory infection and other immune deficiencies. Genetic testing showed that he has harbored c.2437C>T (p.Arg813*) and c.6077dupA (p.Tyr2026fs) (NM_000081) compound heterozygous variants of the LYST gene, for which his parents were both carriers. Neither variant was reported previously. HEAT repeats domain was frequently associated with more severe phenotype of CHS (81.6%), whilst no variant has been found in the PH_BEACH domain. CONCLUSION This study has enriched the spectrum of LYST gene variants associated with CHS and enabled clinical diagnosis, prenatal diagnosis and prognostic evaluation for the child.
Male ; Humans ; Chediak-Higashi Syndrome/genetics* ; Vesicular Transport Proteins/genetics* ; Heterozygote ; Genetic Testing ; China

Objective To explore the important factors influencing organ donation willingness and coordination effect of organ donation coordinators. Methods A questionnaire survey was conducted among 349 national organ donation coordinators by convenience sampling, including 145 males and 204 females, aged 27 (23, 36) years. Multiple linear regression and disordered logistic regression were used to investigate the important factors influencing the willingness to donate organs and coordination effects. Results Among 349 organ donation coordinators, 146 (41.8%) were willing to donate organs, including 101 (28.9%) who had signed the consent card for organ donation. Adequate awareness of organ donation laws, high education level, marital experience, and good self-perceived health status all showed positive effects on organ donation willingness of organ donation coordinators (all P < 0.05). High income, long length of service as organ donation coordinators, full-time mode of employment, high willingness to donate organs, and adequate awareness of donation conditions and donation procedures all showed positive effects on the coordination effect of organ donation coordinators (all P < 0.05). Conclusions The willingness to donate organs is increased as the higher awareness of organ donation laws of organ donation coordinators, while enhancing the willingness to donate organs of organ donation coordinators exerts positive impact upon improving the coordination effect of organ donation coordination. Therefore, an all-round organ donation coordinator training system should be established to improve the success rate of organ donation advocacy and promote the development of organ donation.

Objective To investigate the correlation between wholeGorgan MRI score (WORMS)and pain in patients with knee osteoarthritis (OA).Methods 1 1 9 patients with knee OA were enrolled,and The Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC)was used to estimate the pain.Knees of all the subj ects underwent scanning with sagittal,coronal,transverse TSEG T2 WIGFS and sagittal 3DGFLASHGWE sequences at 3.0T MR.The pathological changes of knee cartilage lesions,subarticular bone marrow edema (BME),bone cysts,bone attrition,osteophytes,meniscal inj ury,ligament inj ury,synovial thickening and joint effusion were evaluated according to the WORMS.The correlations between the above pathological changes and the pain were analyzed.Results There were significant and positive correlations between articular cartilage lesions and osteophytes,articular cartilage lesions and BME,BME and cyst,bone attrition and osteophytes,and BME and osteophytes,with the correlation coefficients of 0.6 70,0.5 9 8,0.5 1 8,0.5 1 4 and 0.505 ,respectively (P＜0.05 ).Multiple regression analysis showed that BME,bone attrition,synovial thickening and joint effusion were the main factors affecting the severity of pain after adj usted for age and BMI (P＜0.05).Conclusion The source of OA pain is multifactorial.The severity of BME,bone attrition,synovial thickening and joint effusion are the main factors associated with joint pain.As a nonGinvasive examination method,MR can make a comprehensive evaluation of the pathological changes of knee OA.