Objective To screen and analyze nucleotide variants in 5'-untranslated region(5'-UTR)in voltage-gated sodium channel α1-subunit gene(SCN1A)in patients with Dravet syndrome and to evaluate the association of the variants with disease.Methods Peripheral blood of 24 patients with Dravet syndrome and 100 unrelated normal persons were collected and genomic DNA was extracted.PCR-sequencing of SCN1 A 5'-UTR in these DNA was performed.To evaluate the possibility of mutation inducing disease,bioinformatics analysis was applied to analyze the conservation of the sequences around the mutation site and predict the potential transcription elements.Results The nucleotide variant of 166.642.520G→A in exon 2 was identified in two patients,but not in normal controls.The mutation was a de novo mutation in a patient with early-onset.In the second proband,the mutation was also carried by his clinically asymptomatic mother.The nucleotide site 166.642.520 was moderately conserved in mammals(62.5%).The average nucleotide identity rate between human and other mammals species in the region adjacent to 166.642.520 was 88.5%.Two potential transcription regulatory elements were predicted on the sequence with the mutation of 166.642.520G>A,and only one on the sequence with wild-type.Conclusions The mutation 166.642.520G>A may be associated with Dravet syndrome and further studied should be performed to verify it and demonstrate its pathogenic mechanisms.

Abstract Adolescent idiopathic scoliosis (AIS) is a three dimensional deformity that includes scoliosis in the coronal plane, imbalance in the sagittal plane, and rotation of the vertebral body in the transverse axis without any congenital spinal anomalies or combined neuromuscular and skeletal disorders, and is the most common structural scoliosis in clinical practice. Epidemiological surveys have shown that the prevalence of AIS in China is on the rise and has become another important health problem threatening the health of our youth. Studies have found that exercise therapy shows positive effects on the prevention and treatment of AIS, but the underlying mechanisms are not well understood. This paper reviewed relevant literature through China Knowledge Network (CNKI), Web of Science, PubMed, Elsevier, regarding pathological mechanisms of the occurrence and development of AIS, as well as effectiveness of exercise therapy on AIS and related mechanisms during recent years, to provide reference for the treatment of AIS.

Objective To study the SCN1A gene in a family with partial epilepsy with febrile seizures plus ( PEFS+ ) and its characteristics of inheritance. Methods The clinical features of the 2 patients and their father were summarized. All 26 exons of SCN1A gene were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was pedormed on those with abnormal elution peak. Pyrosequencing was subsequently performed in those without abnormality in direct sequence analysis. Results The proband and his sister had the phenotype of PEFS+ . The same heterozygous mutations (AS768G) on exon 26 which caused the related amino acid change (Q1923R) were found among them. Their father had frequent febrile seizures (FS) in childhood, and seizures stopped spontaneously. No abnormality was found in direct sequence but mosaic mutation in the same site was discovered with pyrosequencing (mutation quantity was 25% ). Conclusions The mutatin of SCN1A could cause partial epilepsy. PEFS+ could be inherited, the relatives carrying the affected gene may have mild clinical symptoms, possibly resulting from the low concentration of the mutated gene due to mosaic mutation.

Objective To study the sodium channel α1-subunit (SCN1A) gene in a pair of monozygotic twins with borderland severe myoclonic epilepsy in infancy (SMEB) and its characteristic of clinical manifestations. Methods The clinical features of 2 monozygotic twins were summarized. All 26 exons of SCNIA genes were screened with denaturing high performance liquid chromatography (DHPLC), and direct sequence analysis was performed on those with abnormal elution peak. Results The proband and her sister showed typical clinical features of SMEB. The same heterozygous mutations on exon 26 which caused the related amino acid change were found among them (c. 5348C > T, A1783E). Conclusion Monozygotic twins with similar clinical phenotype of SMEB have same SCN1A gene mutation.

Objective To conduct mutation screening of SCN1A 3′ untranslated region (UTR) on Dravet syndrome (DS) patients without mutations in the SCN1A coding region and promoter region, and functional analysis of the variant from DS patients.Methods Twenty-eight DS patients without mutations in the SCN1A coding region and promoter region were screened for SCN1A 3′ UTR mutations using PCR and direct sequencing.Functional analysis of the detected mutation was done via luciferase assay, mRNA stability analysis and RNA electrophoretic mobility shift assay (RNA-EMSA).Results A novo variant (c.*20A>G) in SCN1A 3′ UTR was found in one DS patient.The variant (c.*20A>G) reduced the luciferase gene xpression by 30% through increasing the affinity of pluripotent embryonal carcinoma cell line NT2/cytoplasmic protein binding and reducing luciferase gene mRNA stability (t=8.5,P<0.01).Conclusions A functional variant was detected from one patient with DS.This variant negatively regulated the gene expression by increasing the affinity of pluripotent embryonal carcinoma cell line NT2/cytoplasmic protein binding and reducing mRNA stability.

Sarcopenia is an important manifestation of malnutrition in patients with liver cirrhosis and is one of the common complications of liver cirrhosis, and about 30%-70% of the patients with liver cirrhosis suffer from sarcopenia, which seriously affects the survival and prognosis of patients. Studies have shown that exercise therapy has many advantages in the treatment of such diseases, such as few side effects, high benefits, and simple operability. To summarize the theoretical studies and application results of exercise in liver cirrhosis with sarcopenia and find evidence for the effect of exercise on liver cirrhosis with sarcopenia and related mechanisms, in order to provide a scientific reference for the treatment of liver cirrhosis with sarcopenia.

Nonalcoholic fatty liver disease (NAFLD) is a metabolic disease characterized by chronic liver damage. Epidemiological surveys have shown that the incidence rate of NAFLD is increasing constantly and NAFLD has become a serious threat to human life and health. Studies have shown that autophagy dysregulation is an important pathophysiological mechanism of NAFLD, and exercise, as an important non-pharmacological treatment, can prevent and treat NAFLD by inducing autophagy, but its exact mechanism is still unclear. This article summarizes the theoretical studies and application results related to the association between autophagy and NAFLD, the effect of exercise-induced autophagy on NAFLD, and its potential molecular mechanism, in order to provide a theoretical reference for the prevention and treatment of NAFLD.

The modernisation of Chinese-style all-round and full-cycle health service system is an important guarantee to meet the growing health needs of the residents,and it is also a necessary way to promote the construction of a healthy China and achieve universal health coverage.Through literature and logical analysis and other research methods,on the basis of analysing the connotation and characteristics of the modernisation of the Chinese-style comprehensive and full-cycle health service system,the following optimisation progression is proposed:(1)policy leadership-constructing a comprehensive policy system and building a solid health cornerstone;(2)science and technology empowerment-strengthening the application of scientific and technological innovation to drive the development of health;(3)service upgrading-improving the quality of the service process to optimize the health experience;(4)conceptual innovation-changing the traditional concept of health and improving health literacy.

The development of the"integration of physical education,medical care,and elderly care"model is an important part of building a higher quality elderly care service system during the 14th Five Year Plan period.Based on literature review and logical analysis,it analyzes the driving forces and difficulties of the development of the"integration of sports,medicine,and nutrition"model during the 14th Five Year Plan period,and proposes optimization paths.It is believed that the core driving forces for the development of the"integration of physical education,medical care,and elderly care"model are the aging population and increasing demand for health,the continuous improvement of medical and health services,and the gradual increase in national policy support.The development of the"integration of physical education,medical care,and nursing"model faces practical difficulties such as incomplete laws and regulations,shortage of professional talents,low social awareness,imbalanced resource allocation,and unsmooth industrial collaboration.Based on this,combined with the national health development demand during the 14th Five Year Plan period,it is proposed to strengthen the construction of laws and regulations and formulate unified standards and norms;innovate talent training channels and establish a diversified training system;increase publicity and education efforts to raise public awareness and understanding;integrate and optimize resource allocation to improve resource utilization efficiency;build an industrial integration complex to promote industrial synergy and linkage.

The modernisation of Chinese-style all-round and full-cycle health service system is an important guarantee to meet the growing health needs of the residents,and it is also a necessary way to promote the construction of a healthy China and achieve universal health coverage.Through literature and logical analysis and other research methods,on the basis of analysing the connotation and characteristics of the modernisation of the Chinese-style comprehensive and full-cycle health service system,the following optimisation progression is proposed:(1)policy leadership-constructing a comprehensive policy system and building a solid health cornerstone;(2)science and technology empowerment-strengthening the application of scientific and technological innovation to drive the development of health;(3)service upgrading-improving the quality of the service process to optimize the health experience;(4)conceptual innovation-changing the traditional concept of health and improving health literacy.