OBJECTIVETo investigate the characteristics of the phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) in Tianjin and surrounding area, in order to provide basic information for genetic counseling and prenatal gene diagnosis.

METHODSAll of the 13 exons and flanking introns of the PAH gene from 99 patients with PKU were amplified by polymerase chain reaction and analyzed by single strand conformation polymorphism (SSCP), denaturing high performance liquid chromatography (DHPLC) and DNA sequencing.

RESULTSMutations were found in all exons or flanking introns of the PAH gene except for exons 9 and 13. A total of 41 different mutations were identified which corresponded to 93.94% (186/198) of the PAH alleles, including 22 missense mutations (53.6%), 7 nonsense mutations (17.1%), 9 splicing junction mutations(22.0%), and 3 deletion mutations (7.3%). Six novel mutations (IVS3nt+1g--> a, A165D, Q301X, G344D, P362L and R413G) were identified and another 6 mutations (S16fsdelCT, R71H, IVS5nt+1g--> a, G239S, R243X and R261X) were reported in Chinese population for the first time according to the databases from http://www.pahdb.mcgill.ca. The most common mutations included 243Q (36/198,18.18%), V399V (22/198, 11.1%), R111X (19/198, 9.6%), E6nt-96A--> g (18/198, 9.1%), R413P (15/198, 7.6%) and Y356X (13/198, 6.6%). In addition, 4 silent mutations (except V399V) in exons and 8 variations in introns were found in this study. The IVS1nt+40t--> g and IVS10nt-31g--> a were confirmed as novel variations by international PAH databases and IVS5nt-54g--> a was the first report in China.

CONCLUSIONThe frequencies of six common mutations were close to that in Beijing area of China, but it was different in sequence. The extensive mutation spectrum of the PAH gene showed higher heterogeneity in Tianjin and surrounding areas of Northern China comparing with other reports. According to this report, exons 7 and 11 are the hot spots and should be detected first for PAH gene quick diagnosis in this area, then comes exons 3, 6 and 12, and finally exons 5, 10 and others.

Adolescent ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; Exons ; Female ; Humans ; Infant ; Infant, Newborn ; Introns ; Male ; Molecular Sequence Data ; Mutation ; Phenylalanine Hydroxylase ; genetics ; Phenylketonurias ; enzymology ; genetics ; Sequence Analysis, DNA

Objective To investigate the effect of Puerarin on expression of C-reactive protein(CRP)in iliac artery of atherosclerotic rabbits.Methods Twenty male New Zealand white rabbits were divided into the normal control group(n=6,fed on a normal diet),basic control group(n=8,fed on a cholesterol diet)and Puerarin group(n=8,fed on a cholesterol diet).The balloon injury of iliac arteries was performed in animals of the basic control group and Puerarin group,and the animals of the Puerarin group were injected with Puerarin(25 mg/kg/d per rabbit)after injury.Four weeks after balloon injury,untreated and balloon injury iliac arteries were harvested for immunocytochemical staining.The mRNA and protein expression of CRP were tested by RT-PCR and immunucytochemistry.Results The mRNA and expression of CRP in atheroseclerotic plaque of iliac artery in the Puerarin group was significantly lower than that in the basic control group(P<0.01).Conclusion Puerarin can make atheroseclerotic plaque stable by regulating of the expression of CRP in iliac artery of atherosclerotic rabbit.

Objective To understand the basic characteristics of elderly patients in the Comprehensive Ward of emergency department, put forward reliable countermeasures that can be applied to clinical nursing work, in order to provide reliable countermeasures for clinical nursing work. Methods By querying the electronic medical record system, we collected data from patients retrospectively, and used statistical inference and cluster analysis, nonparametric rank sum test and other statistical inference methods to analyze the data. Results Totally 636 patients were included, the average age of 83 years (77,87), the average required nursing project 4 (3,5), the average number of diagnosis 8 (6,11), Charlson comorbidity index (2,5) with an average of 4 points, the average hospitalization was 15 days (11,21);diagnosis the number of top five diseases for acute exacerbation of chronic obstructive pulmonary disease, pneumonia, pulmonary infection, hypostatic pneumonia, aspiration pneumonia and acute exacerbation of chronic heart failure; 15 nursing needs are divided into three categories before statistical analysis, basic nursing, nursing, nursing treatment pipeline, and as cluster variables in 636 patients divided into three groups, which were high demand for nursing care group, nursing group, nursing group needs low demand. The three groups of patients were statistically significant in the number of deaths, age, Charlson complication index, the number of clear diagnosis and the days of hospitalization (P<0.05). Conclusion The average age of hospitalized elderly patients is relatively high. The risk of death is gradually increased after the patients are grouped according to the requirement of nursing. They are more likely to merge more diseases. The number of hospitalized patients is longer and the number of deaths will increase. Clinical nursing staff should recognize the nursing needs of different types of patients and provide better quality care services for them.