Polygoni multiflori radix praeparata is a processed product of Polygoni multiflori radix(Polygonum multiflorum Thunb.),and its main components include stilbene glycosides,anthraquinones,flavonoids,alkaloids,phenolic acids,etc.It has antioxidant,antianemic,anti-tumor,hypoglycemic,anti-inflammatory effects,etc,and is widely used in clinical practice.The processing technology is mainly stewinging with black bean juice,steaming,processing for 9 times and braising and simmering.After processing,the color deepens and the content of composition changes.By consulting domestic and foreign literature,the research on Polygoni multiflori radix praeparata is not comprehensive enough compared with Polygoni multiflori radix.Therefore,this paper mainly summarizes the processing technology,chemical composition and pharmacological activity of Polygoni multiflori radix preparata reported in the past 20 years,and provides a reference for further development of Polygoni multiflori radix preparata.

Objective:To report a Chinese pedigree with autosomal dominant Waardenburg syndrome, and to identify causative gene mutations.Methods:Clinical data and peripheral blood samples were collected from the proband and her parents. Genomic DNA was extracted, gene mutations were detected through a next-generation skin-targeted sequencing panel, and Sanger sequencing was performed to verify causative mutations.Results:The proband clinically presented with irregular white patches on the abdomen and lower limbs, moderate to severe sensorineural deafness in the right ear, and iris heterochromia in both eyes. The proband′s mother presented with iris heterochromia in both eyes, epicanthus, early canities and thick eyebrows. In the family, both the proband and her mother were diagnosed with Waardenburg syndrome. A causative frameshift mutation c.976-977delinsT (p.Thr327Profs*54) was identified in both the proband and her mother, which caused the AG to TT base substitution at positions 976 - 977 in the coding region of exon 7 of the PAX3 gene, resulted in a frameshift from the amino acid position 327 to 54 in the PAX3 protein (threonine was substituted by proline at amino acid position 327). The proband′s father showed a normal phenotype, and his genetic test results were negative.Conclusion:The novel frameshift mutation c.976-977delinsT (p.Thr327Profs*54) in the PAX3 gene may contribute to the clinical phenotype of the patients with Waardenburg syndrome in the family.

Objective:To construct the competency evaluation index system for endoscopic specialized nurses and provide basis for training, assessment and performance evaluation of endoscopic specialized nurses.Methods:In March 2021, through literature review, research group discussion, expert interview and satisfaction questionnaire, the competency evaluation system for endoscopic specialized nurses was initially established. From March to December 2021, experts from four provinces were selected by convenient sampling for two rounds of Delphi expert consultation. The weight of each indicator was determined by the method of precedence chart and analytic hierarchy process.Results:Among two rounds of consultation, the effective recovery rates of the questionnaire were 86.36% (19/22) and 89.47% (17/19) respectively, and the authority coefficients of experts were 0.82 and 0.86 respectively. The Kendall concordance coefficients of experts' opinions on the first, second and third level indicators were 0.40, 0.50 and 0.48 respectively ( P<0.05) . The final index system included 4 first level indicators (professional knowledge, professional skills, professional development ability, personal characteristics) , 18 second level indicators and 73 third level indicators. Conclusions:The competency evaluation index system for endoscopic specialized nurses has high reliability, comprehensive and practical contents, and has certain reference significance for the management and training of endoscopic specialized nurses.

OBJECTIVE: To explore the genetic basis for a child with 46,XY disorders of sex development (DSD) and explore its genotype-phenotype correlation. METHODS: The child was subjected to whole exome sequencing (WES), and exons 1 to 7 of NR5A1 were subjected to multiplex ligation-dependent probe amplification (MLPA) analysis. RESULTS: The patient presented with rudimentary vulva of a female with Tanner stage 1. B-mode ultrasonography has detected ovary and uterus. The child was found to have a chromosome karyotype of 46,XY. WES revealed that the patient has harbored heterozygous deletion of exon 5 of the NR5A1 gene, which was a novel pathogenic variant inherited from the mother. No abnormality was found in the father. CONCLUSION The main symptoms of 46,XY DSD children are insufficient external genitalia masculinization, for which variants of the NR5A1 gene are an important cause. WES has improved the detection rate of genetic variants and provided a solid basis for genetic counseling of the affected families.
Child ; Disorder of Sex Development, 46,XY/genetics* ; Disorders of Sex Development/genetics* ; Exons/genetics* ; Female ; Genetic Testing ; Heterozygote ; Humans ; Mutation ; Steroidogenic Factor 1/genetics*

Objective To investigate the spectrum of CYP21A2 gene mutation and the correlation between genotype and phenotype in patients with 21-hydroxylase deficiency in Tianjin and surrounding areas.Methods Genomic DNA was extracted from the peripheral blood samples of the proband.Locus-specific PCR,direct sequencing of PCR amplification products,and multiplex ligation-dependent probe amplification were applied to detect pathogenic gene CYP21A2 and the relationship between genotypes and phenotypes was analyzed.Results (1) Of 35 patients with 21-hydroxylase deficiency,25 were classified as salt-wasting phenotype and 10 were simple virilizing phenotype.(2) 69 mutant alleles were detected in a total of 70 alleles in 35 patients.Only one mutant allele was detected in one patient.Two mutant alleles were detected in all other patients,with the mutation detection rate 98.6％.(3) A total of 6 types of mutations were detected,of which c.293-13C/A＞G (I2G) was the most common,accounting for 57.1％ (40/70),followed by 18.6％ (13/70) for large gene deletion or conversion,and 14.3％ (10/70) for p.I173N.In addition,a novel mutation,c.949C＞T (p.R317X),which has not been reported previously,was detected as a pathogenic mutation.(4) Correlation analysis of genotype and phenotype in 35 children showed that the phenotype predicted by genotype was consistent with the actual salt-wasting phenotype in 31 children,and those in three children were inconsistent with the actual clinical phenotype.Conclusion The mutation characteristics of CYP21A2 gene in patients with 21-hydroxylase deficiency in Tianjin and surrounding areas are slightly different from those reported in other regions in China.A mutation c.949C＞T has not been reported,which enriches the mutation spectrum of CYP21A2 gene and provide the foundation for genetic counseling and prenatal diagnosis.

The blood samples of 102 type 1 diabetic children aged under 15 years and 127 normal children were collected and their genomic DNAs were extracted. The single nucleotide polymorphisms rs1990760 and rs35744605 of interferon induced with helicase C domain 1(IFIH1)gene were detected. The results showed that the allele of IFIH1 rs35744605 in diabetes group and control group was the wild type G allele. The frequency of IFIH1 rs1990760 A allele in diabetes group was higher than that in control group(22. 1％ vs 13. 0％ ,P=0. 015), suggesting that IFIH1 rs1990760 A allele is associated with type 1 diabetes in Tianjin area.

MicroRNA (miRNA) negatively regulates gene expression at the post-transcriptional level.Studies find that the abnormal expression of miR-151-5p in various human tumors may play an important role in the development of human tumors,especially in the invasion and metastasis.Further studies of miR-151-5p contribute to a more in-depth understanding of tumor invasion and metastasis,which have potential value in tumor diagnosis,treatment and prognosis.

Objective To observe the curative effect of methylprednisolone combined with entecavir in treatment of hepatitis B virus (HBV) related early stage liver failure.Methods One hundred and twenty-six patients with HBV related early stage liver failure were divided into treatment group (68 cases) and control group (58 cases) by random digits table method.The patients in 2 groups were given conventional hepatinica treatment and entecavir antiviral treatment,but the patients in treatment group were added methylprednisolone and pantoprazole.The alanine aminotransferase (ALT),total bilirubin (TBil),albumin,prothrombin time (PT),HBV-DNA,tumor necrosis factor (TNF)-α,interleukin (IL)-6 levels were compared between 2 groups,and the adverse reaction of methylprednisolone was observed.Results The ALT,TBil,PT and albumin levels after the first,second,fourth,sixth and eighth week of treatment in treatment group were significantly better than those in control group,and there were statistical differences (P ＜ 0.05).There was no statistical difference in HBV-DNA between 2 groups (P ＞ 0.05).The TNF-α and IL-6 levels after the first and second week of treatment in treatment group were (4.13 ± 1.25) and (1.98 ± 0.67) p g/L,(3.21 ± 0.75)and (1.23 ± 0.29) μ g/L,and in control groups were (5.89 ± 1.78) and (3.67 ± 0.87)μ g/L,(4.12 ± 0.88) and (2.68 ± 0.81) μ g/L.The TNF-α and IL-6 levels in treatment group were significantly lower than those in control group,and there were statistical differences (P ＜ 0.05).The effective rate in treatment group (79.41％,54168) was significantly higher than that in control group (51.72％,30/58),the fatality rate in treatment group (2.94％,2/68) was significantly lower than that in control group (24.14％,14/58),and there were statistical differences (P ＜ 0.05).The adverse reaction of methylprednisolone in treatment group was not found.Conclusion The methylprednisolone combined with entecavir can improve liver function and survival rate in patients with HBV related early stage liver failure,and adverse reaction of methylprednisolone is rare.

Objective To investigate the effect and prognosis of intensive insulin therapy on cerebral infarction combined with hyperglycemia.Methods Seventy cases of cerebral infarction combined with hyperglycemia were divided into two groups by random number table method.Thirty-five cases in control group,were treated with insulin,and the blood glucose was controlled ＜ 11.1 mmol/L; 35 cases in intensive group,were treated by insulin pump,and the blood glucose was controlled in 4.4-8.3 mmol/L.The degree of neurological damage and improvement of daily life in two groups before and after treatment was compared by National Institutes of Health Stroke Scale(NIHSS) and modified Rankin Scale(mRS) scores.Insulin dosage,the time for reaching the standard,incidence of hypoglycemia,pulmonary infection rate and fatality rate was recorded in two groups.Results The NIHSS and mRS scores between two groups before treatment had no statistical significance (P ＞ 0.05),and after 30 d treatment,the NIHSS and mRS scores in control group [(8.29 ±2.74),(2.96 ±0.74) scores] and intensive group [(6.83 ±3.16),(2.02 ±0.62) scores] were obviously improved compared with those before treatment,and the improvement in intensive group was better than that in control group (P＜ 0.05).In intensive group,the insulin dosage and the time for reaching the standard was less than that in control group [(36.40 ± 6.91) U/d vs.(51.70 ± 9.86) U/d,(4.30 ± 0.87)d vs.(6.60 ± 1.24) d],incidence of hypoglycemia and fatality rate was lower than that in control group[5.7％ (2/35) vs.25.7％ (9/35),0 vs.8.6％ (3/35)],the difference was statisticly significant (P ＜ 0.05),but the pulmonary infection rate between two groups had no statisticly difference (P ＞ 0.05).Conclusion The curative effect of intensive insulin therapy on cerebral infarction combined with hyperglycemia is better,and is helpful to the neural functional recovery.