Objective To explore the role of the Hedgehog singaling in the pathogenesis of esophageal cancer.Methods Tissue samples of normal esophageal mucosa,low-grade dysplasia,high-grade dysplasia and esophageal cancer were collected.Immunohistochemical stain,Western-blot and RT-PCR were employed to detect theexpression of Hedgehog protein and gene,methylation special PCR was used to detect the methylation status of Hedgehog gene.Results There was no difference in the expression of SHh protein among nornaml esophageal and low-grade dysplasia,high-grade dysplasia and esophageal cancer(LGD vs.N:t=1.96,P=0.67;HGD vs.EC:t=1.59,P=0.53).However,the expression of SHh protein in high-grade dysplasia and esophageal cancer was higher than that in normal esophageal mucosa and low-grade dysplasia(HGD vs.N:t=0.593,P=0.004;HGD vs.LGD:t=1.308,P=0.325;EC vs.N:t=0.292,P=0.000;EC vs.LGD:t=0.734,P=0.004).The expression of Hedgehog gene in esophageal cancer was higher than that in normal esophageal mucosa,low-grade dysplasia and high-grade dysplasia(EC vs.N:t=0.909,P=0.019,EC vs.LGD:t=0.398,P=0.007;EC vs.HGD:t=0.843,P=0.012).The gene methylation in esophageal cancer was lower than that in normal esophageal mucosa,low-grade dysplasia and high-grade dysplasia(EC vs.N:t=0.0340,P=0.000;EC vs.LGD:t=0.102,P=0.000;EC vs.HGD:t=0.367,P=0.018).Conclusion Hedgehog signaling may play a role in the pathogenesis and development of esophageal cancer,however,demethylation of Hedgehog gene may be one of the mechanism that cause the activity of oncogene in esophageal cancer.

OBJECTIVE: To analyze the characteristics of genetic variants among children with refractory epilepsy (RE). METHODS: One hundred and seventeen children with RE who had presented at the Affiliated Jinhua Hospital of Zhejiang University School of Medicine from January 1, 2018 to November 21, 2019 were selected as the study subjects. The children were divided into four groups according to their ages of onset: < 1 year old, 1 ~ 3 years old, 3 ~ 12 years old, and >= 12 years old. Clinical data and results of trio-whole exome sequencing were retrospectively analyzed. RESULTS: In total 67 males and 50 females were included. The age of onset had ranged from 4 days to 14 years old. Among the 117 patients, 33 (28.21%) had carried pathogenic or likely pathogenic variants. The detection rates for the < 1 year old, 1 ~ 3 years old and >= 3 years old groups were 53.85% (21/39), 12.00% (3/25) and 16.98% (9/53), respectively, with a significant difference among the groups (χ² = 19.202, P < 0.001). The detection rates for patients with and without comorbidities were 33.33% (12/36) and 25.93% (21/81), respectively (χ² = 0.359, P = 0.549). Among the 33 patients carrying genetic variants, 27 were single nucleotide polymorphisms (SNPs) or insertion/deletions (InDels), and 6 were copy number variations (CNVs). The most common mutant genes were PRRT2 (15.15%, 5/33) and SCN1A (12.12%, 4/33). Among children carrying genetic variants, 72.73% (8/11) had attained clinical remission after adjusting the medication according to the references. CONCLUSION 28.21% of RE patients have harbored pathogenic or likely pathogenic variants or CNVs. The detection rate is higher in those with younger age of onset. PRRT2 and SCN1A genes are more commonly involved. Adjusting medication based on the types of affected genes may facilitate improvement of the remission rate.
Infant ; Female ; Male ; Humans ; Child ; Infant, Newborn ; Child, Preschool ; DNA Copy Number Variations ; Drug Resistant Epilepsy/genetics* ; Retrospective Studies ; Polymorphism, Single Nucleotide

Seasonal influenza vaccination is the most effective way to prevent influenza virus infection and complications from infection. Currently, China has licensed trivalent inactivated influenza vaccine (IIV3) and quadrivalent inactivated influenza vaccine (IIV4), including split-virus influenza vaccine and subunit vaccine. Except for a few major cities, influenza vaccine is a category Ⅱ vaccine, which means influenza vaccination is voluntary, and recipients must pay for it. To strengthen the technical guidance for prevention and control of influenza and operational research on influenza vaccination in China, the National Immunization Advisory Committee (NIAC) Influenza Vaccine Technical Working Group (TWG), updated the 2014 technical guidelines and compiled the "Technical guidelines for seasonal influenza vaccination in China (2018-2019)" . The main updates in this version include: epidemiology, disease burden, types of influenza vaccines, northern hemisphere influenza vaccination composition for the 2018-2019 season, IIV3 and IIV4 immune response, durability of immunity, immunogenicity, vaccine efficacy, effectiveness, safety, cost-effectiveness and cost-benefit. The influenza vaccine TWG provided the recommendations for influenza vaccination for the 2018-2019 influenza season based on existing scientific evidence. The recommendations described in this report include the following: Points of Vaccination clinics (PoVs) should provide influenza vaccination to all persons aged 6 months and above who are willing to be vaccinated and do not have contraindications. No preferential recommendation is made for one influenza vaccine product over another for persons for whom more than one licensed, recommended, and appropriate product is available. To decrease the risk of severe infections and complications due to influenza virus infection among high risk groups, the recommendations prioritize seasonal influenza vaccination for children aged 6-59 months, adults ≥60 years of age, persons with specific chronic diseases, healthcare workers, the family members and caregivers of infants <6 months of age, and pregnant women or women who plan to become pregnant during the influenza season. Children aged 6 months through 8 years require 2 doses of influenza vaccine administered a minimum of 4 weeks apart during their first season of vaccination for optimal protection. If they were vaccinated in 2017-2018 influenza season or a prior season, 1 dose is recommended. People more than 8 years old require 1 dose of influenza vaccine. It is recommended that people receive their influenza vaccination by the end of October. Influenza vaccination should be offered as soon as the vaccination is available. For the people unable to be vaccinated before the end of October, influenza vaccination will continue to be offered for the whole season. Influenza vaccine is also recommended for use in pregnant women during any trimester. These guidelines are intended for use by staff members of the Centers for Disease Control and Prevention at all levels who work on influenza control and prevention, PoVs staff members, healthcare workers from the departments of pediatrics, internal medicine, and infectious diseases, and staff members of maternity and child care institutions at all levels.