Tyrosinemia type Ⅰ is an autosomal recessive disease characterized by severe liver and kidney damage.Patients with this disease may develop acute liver failure and have a high risk of hepatocellular carcinoma.The diagnosis is confirmed by elevated tyrosine serum levels and large amounts of succinylacetone in blood and urine.Nitisinone has been significantly effective in treatment of the disease,while dietary therapy with restriction of phenylalanine and tyrosine is necessary at the same time.Liver transplantation has been performed in a few patients and has a positive effect.Experimental work in model mice has provided some promise for gene therapy to this disorder.

〔Abstract〕 The paper introduces the application of mobile health service in intelligence medicine service platform , including medical assistance, community medical care, comprehensive health examination , etc.It elaborates the key technologies of intelligence medicine in-formatization, including medical devices interoperability and information integration , personalized intelligent pushment , etc.The construc-tion of intelligence medicine service platform could promote health information sharing , form intelligence medicine oriented health service system.

Objective\ To in vestigate the change of the premature ventricular complexes(PVC)and the heart rate variability(HRV)before and after the treatment of Sotalol on PVC patients.Methods\ To observe the different index of HRV in 50 cases with PVC by means of 24h.ambulator ECG before and after the use of Sotalol,the other 50 cases with PVC as the control.Results\ After the therapy of Sotalol,the SDNN,SDANNI and SDNNI that showd the total HRV significantly(P

Objective To find out the relationship between ambulatory pulse pressure (24 h PP) and left ventricular hypertrophy (LVH) and the enlarged diameter of aortic root (AOD) in aged pati ents with essential hypertension.Methods 118 aged patients with essential hypertension we r e examined by ambulatory blood pressure (ABP) and echocardiography,the different index of ABP and left ventricular mass index (LVMI) and AOD were measured.The p atients were divided into group A (24 h PP≥60 mmHg) and group B (24 h PP

Objective To comprehensively evaluate the development capacity of secondary public hospitals and provide hospital decision makers with objective and valid information.Methods By means of non-probability random sampling,13 secondary public hospitals were pinpointed nationwide,from which statistics of hospital development between 2005 to 2009 were collected for factor analysis of development capacity.EPIDATA3.1 and SAS9.2 were used for data input and analysis.Results Key development factors on development capacity of such hospitals are workload,hospital size,human resources and specialties.The hospitals vary in their development capacity factors to tell a difference.Conclusion Such factors as workload,size,staff makeup and specialty competence play a key role in development of such hospitals.

Objective To study the 2244G→A, 2299 A→G single nucleotide polymorphism (SNP) in the 5' regulatory regions of Toll-like receptor 4 (TLR4) in patients with Gram negative bacteria infection in Shenzhen locality, and to discuss the occurrence, course and prognosis of patients with sepsis. Method Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used to detect the genotype of TLR4. After the whole blood DNA of patient was extracted and PCR was amplified, the products were 500bp and 599 bp, and were cut by endonuclease Mae Ⅱ and Sph Ⅰ respectively to determine the SNP 2244G→A and 2299 A→G in TLR4. These two kinds of allele frequencies were statistically calculated in all patients. In the meantime, the incidence of septic shock, average hospitalized days, cost and prognosis of all patients were recorded. Statistical analysis was performed with SPSS version 16 software. ANOVA was used for comparison among multiple groups, and t -test and Sighed rank test were used for paired comparison. Results The 2299 and 2244 sites in the 5' regulatory regions of TLR4 gene of patients with Gram negative bacteria infection in Shenzhen locality had various degrees of changes in single nucleotide. Compared with the documented data from Chinese people in general, there was a significant difference in 2299A→G genotype frequency in residents of Shenzhen locality ( P < 0.05). But there were no statistically significant difference in mortality, incidence of septic shock, average days of ICU stay or ICU cost between TLR4 SNP positive and negative groups of patients. Conclusions There is a wide range of genetic variation in the 2299 and 2244 sites in the 5' regulatory regions of TLR4 among citizens of Shenzhen locality with unique distribution. The 2299A→G genotype frequency probably has differences in distribution and population. The pathogenesis and the prognostic factors of sepsis are complicated, whereas the gene polymorphism may be just one of the factors affecting the prognosis of patients with Gram negative bacteria infection.

Objective:To explore the value of ultrasound in screening of twin pregnancies during early trimmest (11-13+6 weeks). Methods: Totally 196 twin pregnant women who received prenatal ultrasonography at 11-13+6 weeks were enrolled, among them the twins were classified as chorionic and amniotic. The fetal-rump length and nuchal translucency (NT) were measured, the fetal structures were examined systematically to detect structural abnormalities, and the pregnancy outcomes were followed up. Results: Among 196 twin pregnant women, dichorionic and diamniotic (DCDA) twins were found in 149 women, monochorionic and diamniotic (MCDA) twins were found in 43 women, while monochorionic and monoamniotic (MCMA) twins were observed in 4 women. Ultrasonography showed that 36 pregnant women had abnormal fetuses, including 30 DCDA twins, 4 MCDA twins and 2 MCMA twins. A total of 30 abnormal fetuses were detected in DCDA twins, all were one of the twins, including one with spine and lower limbs abnormally developed, one with neck water cyst, one of twins stopped developing in 25 cases and one of twins with thickened NT in 3 cases. A total of 6 abnormal fetuses were detected in MCDA twins, including one fetus without cardiac twins sequence, one of twins with neck water cyst in one case, one of the twins stopped developing and the other with neck water cyst in one case, and both twins stopped developing in one case. Among MCMA twins, encephalomeningocele was found in one of twins in one case, while conjoined twins were detected in one case. Conclusion: Ultrasound screening plays a very important role in diagnosing chorionic and amniotic, detecting fetal structural abnormalities and complications of twins during early trimmest.

Objective:To investigate the mRNA expression of the WIF-1 gene and the methylation of its promoter in breast can-cer, and to determine the correlation between the epigenetic aberrant WIF-1 DNA methylation and the clinicopathological significance of WIF-1 in breast cancer . Methods:RT-PCR and sensitive methylation-specific-PCR (MSP) were used to detect WIF-1 mRNA ex-pression and the methylation of the WIF-1 promoter in 30 breast cancer samples as well as in tumor-adjacent tissue samples and 9 be-nign breast tissues. Results:The WIF-1 mRNA expression in 30 breast cancer samples significantly decreased compared with those of the other two groups. In addition, WIF-1 methylation was more frequent in breast-tumor tissues compared with those in tumor-free tis-sues. Meanwhile, WIF-1 mRNA expression in breast cancer tissues involved the abnormal methylation of its promoter. Clinicopatholog-ical correlation analysis showed that the abnormal methylation of the WIF-1 gene promoter was not associated with age, TNM stage, histotype, or lymph node metastasis. Conclusion:WIF-1 mRNA expression loss due to abnormal methylation may be a crucial factor in breast cancer development and can thus be used in the prognosis and progression of the disease.

Objective To study the prognostic predictive value of quantitative dectroencephalography (qEEG)for patients with large middle cerebral artery infarction (LMCAI).Methods The scores of routine electroencephalography (EEG),qEEG and the Glasgow Coma Scale (GCS) of the patients within 72 hours after symptom onset were recorded.The short-term prognosis (death or survival) was evaluated at 1 month after the onset.The long-term prognosis (good or poor) was evaluated at 3 months after the onset.All the observed data in each prognostic group were compared.Results A total of 105 patients were included in the study.There were significant differences in the margin of amplitude integrated electroencephalogram (aEEG) (upper margin:19.11 ± 7.80 μV vs.11.87 ±6.41 μV;t =2.392,P =0.019; lower margin:11.90 ± 4.78 μV vs.7.58 ± 4.15 μV; t =3.327,P =0.022),Synek-classification (x2 =48.114,P =0.000) between the short-term survival group and the death group; in patients with left LMCAI,there were significant differences in the absolute energy of the β-activity (13.16 ±12.66 μV2 vs.19.20 ±17.96 μV2;t =-2.781,P =0.039),spectral edge frequency 95％ (SEF95％) (9.17 ± 3.24 Hz vs.10.36 ± 3.76 Hz; t =-5.614,P =0.002) between the short-term survival group and the death group.There were significant differences in the age (59.33 ±13.67 years vs.68.87± 10.473 years; t =-3.215,P =0.002),GCS scores (10.86±2.80 vs.9.21 ±2.51;t =2.511,P =0.015),SEF95％ (13.80 ±5.40 Hz vs.10.93 ±4.68 Hz; t ＝2.311,P =0.024) and sides of infarction (x2 =4.737,P =0.030) between the long-term good prognosis group and the poor prognosis group.Conclusion qEEG can be used as an effective means of monitoring for evaluating the prognosis of patients with LMCAI.