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 provide a criterion for determining whether a mouse's health by analyzing the time-frequency local characteristics of nonlinear and unsteady mice blood spectrum signal.Methods: Collect the blood spectrum signal of the normal and liver damage mice by infrared spectrum method, then study the mice blood spectrum signal by Hilbert - huang transform method.Results: Initially formed criterion on judge whether there is hepatic injury in mice signal.Conclusion: Analysis method based on HHT in mice blood signal spectrum analysis can accurately determine the health of the mice and it provides a new method of analysis for noninvasive blood tests.

Objective: To design mobile communication technology-based remote monitoring system which predict pregnancy-induced hypertension dynamically and improve the prediction accuracy. Methods:Based on the former portable detection device, the new system is combined with the GPRS wireless modem. Though data collecting, processing, analyzing, sending and receiving, we achieve the remote monitoring of blood flow parameter. The doctors analyze the health of pregnant women and Feedback diagnostic information in-time based on the monitoring information. Results: The system can monitor the blood flow parameter dynamically and provide more effective diagnostic information for the pregnancy-induced hypertension. Conclusion: The system can provide more effective technical support for forecasting, prevention and treatment pregnancy-induced hypertension.

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.

  Objective  To investigate the incidence and adverse effects of abnormal uterine bleeding (AUB) during oral anticoagulation therapy in women with thrombophilia.  Methods  The female patients with thrombophilia who received oral anticoagulation therapy with rivaroxaban or warfarin in the Department of Hematology of Peking Union Medical College Hospital from January 2013 to May 2023 were selected as the study subjects. Their demographic characteristics, disease related data and AUB before and after anticoagulant therapy were retrospectively collected. The patients were divided into rivaroxaban treatment group and warfarin treatment group according to anticoagulant drugs. The generalized estimating equation was used to analyze the difference in the incidence of AUB before and after anticoagulant therapy, and explore the effect of different anticoagulant therapy on AUB.  Results  A total of 106 female patients with thrombophilia were included, and we found that oral anticoagulation significantly increased the incidence of AUB (56.6% vs. 26.4%, P < 0.001), predominantly characterized by excessive menstruation (48.1%) and prolonged periods (21.7%). Rivaroxaban was more likely to cause AUB than warfarin (OR=3.3, 95% CI: 1.5-7.4, P=0.003). Of the patients who experienced excessive menstruation and prolonged periods, 72.2%(39/54) required intervention, with suspension of anticoagulants during menstruation as the main intervention (37.0%). The patients taking rivaroxaban were more likely to stop taking them during menstruation compared to those taking warfarin (OR=10.4, 95% CI: 1.2-87.2, P=0.019).  Conclusions  Oral anticoagulation therapy significantly increased the incidence of AUB in women with thrombophilia and the risk of AUB associated with rivaroxaban was significantly higher than that with warfarin.

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.