2.Role of SCN1A gene variations in the development of familial febrile seizures
Journal of Clinical Pediatrics 2017;35(2):133-137
Objective To determine the role of SCN1A gene variation in the development of familial febrile seizures (FS).Methods Clinical data were collected from 8 familial FS pedigrees, and peripheral venous blood samples were collected from the probands and other available family members. All 26 coding exons and exon-intron boundaries at least 50 bases of the human SCN1A gene were amplifled by polymerase chain reaction, the products were subsequently sequenced. To novo variation, other family members were screened for the corresponding exons. Two hundred age-matched healthy children were served as normal controls. ResultsA total of 33 variations in the SCN1A gene were identifled in these families. Of these variations, one was a missense mutation; the remaining 32 variations were previously submitted as single nucleotide polymorphisms (SNPs). A c.2650G>A heterozygous missense mutation in exon 15 of the SCN1A gene found in the proband of family 4 was inherited from his father who had seizures with fever in early childhood. The c.2650G>A mutation was absent in the 400 alleles of normal controls. To the best of our knowledge, the SCN1A c.2650G>A mutation has neither been reported in the NCBI SNP database nor in the literature to date. The c.2650G>A mutation changes a glycine at amino acid 884 in the SCN1A protein to a serine (p.Gly884Ser). Protein sequence analysis showed that the p.Gly884Ser is located at a highly conserved region between the 4th and 5th transmembrane segment of the homologous domain Ⅱ of voltage-gated sodium channel 1 subunit (DIIS4-S5). ConclusionsThe pathogenesis of familial febrile seizures was related to the SCN1A variation, the mutation outside the region of the voltage sensor (S4) and ion channel pore (S5-S6) of the voltage gated sodium channelα-subunit may be an important factor to cause mild phenotype epilepsy syndrome.
3.Statistics analysis of algae literature in biomedical periodicals written in Chinese
Chinese Journal of Marine Drugs 1994;0(03):-
Objective Statistics the distribution regularity of algae literature in biomedical periodicals written in Chinese. Methods The specialized articles on algae are distributed in 285 types of Chinese periodicals with total 914 articles after retrieving Chinese Biomedical Literature Database(from 1995 to March of 2004). According to Bradford' law and Bradford zone method, three zones are divided into an approximately equal quantity of articles. The zone division is based on the quantity of articles in the periodicals and a digressive sequence as well. Results There are 14 periodicals in the first zone with 308 articles published, which are 4.91% of the total periodicals and 33.7% of the total articles. It could provide the 1/3 information and it is the Core Journals. Conclusion The articles published in Chinese Journal of Marine Drugs are the most, which reaches 90 and occupies 9.8% of the total; therefore, it shall be given priority when alga articles are selected. The scientific comments on periodicals can direct researchers on algae to attain necessary information.
4.Current advances in the treatment of cartilage defects
Journal of Medical Postgraduates 2003;0(08):-
Cartilage lesions resulting from acute or chronic injury are one of the major factors leading to joint disease and disability ,and eventually osteoarthritis. It is well known that articular cartilage in adults has a limited ability for self-repair,and represent a clinical management challenge. Numerous methods have been devised to augment its natural healing response. The most appropriate treatment option for an individual patient should be based on the pathologic characteristics of the lesion and the patient's symptoms, age and expectations. This review presents the current articular cartilage management and the direction in future therapeutic regimens.
5.Gene therapy in reparation of cartilage lesions
Journal of Medical Postgraduates 2003;0(10):-
Damaged articular cartilage has a limited intrinsic capacity to heal itself,especially in adults,It represents a clinical challenge.Novel gene therapy can introduce particular beneficial gene into the seeded sells and express growth factors or other therapy proteins at the repair site.Gene therapy focuses on selecting proper gene,target cells and the transferring systems. The tissue engineering cartilage with gene-modified seeding cells and transferring objective gene to target sells locally present new therapeutic regimens for repairing defects in articular cartilage.
7.Regulation mechanism of unfolded protein response: progress and clinical prospect
Academic Journal of Second Military Medical University 1981;0(03):-
Unfolded protein response(UPR) is a protective response in cell endoplasmic reticulum(ER) under stress condition.Three ER transmembrane proteins,IRE1,PERK,and ATF6,coordinately regulate the UPR function in mammalian cells through their signaling pathways.In addition,some proteins and transcription factors during the UPR can provide negative and positive feedback loops to maintain the normal function of ER.UPR can trigger cell death or apoptosis and eventually cause related diseases if the ER stress persists.Several key mediators of UPR are candidates for therapeutic targets in many studies.Up to now progress has been made in the area,which provides new ideas for clinical practice and holds a great potential for future application.
8.Study on Drug Safety of Emergent Public Health Events
China Pharmacy 2005;0(21):-
OBJECTIVE: To provide references for the improvement of drug safety of emergent public health events.METHODS: The characteristics of drug demands in emergent public health events were analyzed to guarantee the characteristics of drug safety so as to explore effective safeguard strategy.RESULTS & CONCLUSIONS: Special system and countermeasure are required to guarantee drug safety of emergent public health events.The strategy includes three aspects,i.e.adequate plan in advance,rapid response and timely consummation after the event.
9.In Vitro Dissolution Test of Flavonoid Pilulae from Gegen
Chinese Traditional and Herbal Drugs 1994;0(06):-
Flavonoid Pilulae from Gegen were prepared by melting method. Using PEG 4000 and PEG 6000 as carrier. Serious of studies on the in yitro release kinetics were carried out.PEG4000 ; PEG6000 ratio had no effect on the release kinetics. PEG 4000: flavonoids ratio had an evident effect on the release properties of the pilulae, the higher the ratio,the faster the release rate. But when the PEG 4000, flavonoids ratio exceeded 10: 1, a reverse effect could be seen. Compared with "Gegen flavonoids" tablets, "Yufengingxin" tablets(release half time, T50= 94.79min), the pilulae gave a much fast release characteristic (T50 = 11. 56min).
10.On the Differences of Rational Use of Drugs Policy between China and America and Relevant Reflections
Chinese Medical Ethics 1994;0(05):-
This paper studies the differences of rational use of drugs policy between China and America,mainly focusing on the differences in the policy of clinical pharmacists,the research and development process of substitute for drugs,the guarantee system of medical treatment.In addition,it naturally analyzes the reasons for these kinds of differences from the view of culture and value.At last,it deeply summarizes the humanism positions and justice principles based on which the Rational Use of Drugs was drawn up from the angle of ethics.