Objective To detect and genotype the single-nucleotide polymorphisms (SNPs) in coding and promoter regions of human glucagon gene in Han Chinese residing in Shanghai and to analyse its association with essential hypertension (EH). Methods The identification of SNPs was performed by both direct DNA sequencing and denaturing high-performance liquid chromatography (DHPLC). For genotyping of SNPs direct sequencing was performed in 96 patients with EH and 96 normotensive controls (NT). Results Two SNPs in glucagon gene, one in the coding region (C3689T) and the other in the joint region, (G5505A) were found. A higher frequency SNP, C3689T, was genotyped and no significant difference in C3689T genotype frequency was found between EH and NT. Conclusion There is an important ethnic difference in SNP distribution of human glucagon gene. The distribution of C3689T genotype in Han Chinese is not different between EH and NT.

OBJECTIVE:To observe the factors that influence the fluctuation of serum concentrations of valproic acid and to improve the effectiveness and usefulness of monitoring the serum concentration.METHODS:The factors that influence the serum concentration of valproic acid were summed up and the countermeasures were put forward.RESULTS:These influencing factors included the drug administration time;the blood sampling time;the right moment for monitoring;the dosage forms and quality of drug;the obedience of patient;combining use of drugs and the physiological and pathological conditions of pa?tients.CONCLUSION:When epileptic patients receive long-term medical treatment,the doctor,the patient and the pharma?cist should communicate mutually,establish the relevant data,pay attention to those factors and ensure the patients safe and effective in use of drug.

Objective To screen the mutation in P and 7 subunit of epithelial sodium channel (ENaC) gene in the relatives of a patient diagnosed as Liddle's syndrome. Methods In a family of three generations, seven family members were affected with hypertension, among them a girl aged 14 years was diagnosed as Laddie's syndrome and her mother and maternal grandsire died of stroke at thirty-eight years. Peripheral blood samples were collected from all living members of the family and total genomic DNA was prepared for genetic analysis. Polymerase chain reaction (PCR) was used for amplifying the final exon of the ? ENaC (codon 513-638) and ? ENaC (codon 524-631 )gene. PCR products were purified and subjected to direct DNA sequencing. Results Genetic analysis of the ? ENaC gene revealed a missense mutation of CCC (Pro) to TCC (Ser)at codon 616 in the index case and two other family members. In these three family members, a new variant of GAC (Asp) to CAC(His) at codon 632 was found, which was linked with 616 (Ser) . This variant was not detected by direct sequencing the final exon of ? ENaC gene in 150 unrelated subjects. Through clinical examinations and biochemical measurement, thSese two mutation carriers' biochemical characteristics were all concordant with Liddle's syndrome. Neither mutation could be detected in other members of this family. The mutation TGG(Trp)573TAG(Term) of ? ENaC gene could not be found in this family either. Conclusions (1) Screening for specific mutations of ENaC in relatives of patients affected with Liddle's syndrome can be used to identify previously unrecognized cases within families. (2) A new missense mutation in the ? ENaC gene is found in this family.

A young male diagnosed with severe hemophilia A since childhood, was presented with recurrent joint and urinary bleeding. Annualized bleed rates dropped below five with low dose prophylactic medication.Bleeding in the right knee joint recently aggravated. Due to coexisting HIV infection and advanced hemophilic arthritis, the patient was managed by a multi-disciplinary team(MDT).Total knee arthroplasty was performed by an experienced surgeon using modern prosthesis design and intraoperative navigation technologies.Physical and rehabilitation therapy was provided during the postoperative period, and joint function improved. The MDT managed the young patient with HIV infection and advanced hemophilic arthritis. The patient was diagnosed with osteoporosis thought to have been caused by hemophilia, HIV infection and antiviral drugs; and he received treatment. The treatment of this patient reflects the importance of multidisciplinary cooperation in the management of difficult and rare diseases.