ABSTRACT
Objective To determine the spectrum of mutations responsible for Phenylalanine hydroxylase (PAH) deficiency on phenylketonuria (PKU) patients of Han Chinese people in the Huaihai region of central China.Methods One hundred and one patients diagnosed with PKU were referred to Xuzhou Maternity and Child Health Care Hospital for genetic counseling/analysis from January 2003 to December 2013.Thirteen exons of PAH gene mutations,as well as their flanking introns,were identified in 202 of chromosomes using polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and sequencing.Results (1) The spectrum was composed of 24 different mutation types,which had been submitted to the National Center for Biotechnology Information(NCBI) dbSNP databases under accession number SS#2137543837_SS#C2137543860.(2)The most commonly affected region was exon 7 and its flanking introns.The most prevalent mutations were c.728G ＞ A (p.R243Q),followed by c.721C ＞ T (p.R241C),c.1155G ＞ C(p.L385L),c.1068C ＞ A(p.Y356X),c.-71A ＞ C(-71A ＞ C) and c.60 + 62C ＞ T (IVS1 +62C ＞T),accounting for 18.317％,8.416％,4.950％,3.960％,3.465％ and 2.970％ of the mutant chromosomes,respectively.(3)Two novel mutations were identified in PAH gene in PKU patients of Han Chinese people:c.60+62C＞T(IVS1 +62C ＞T) and c.782G ＞T(p.R261L).Conclusions The vast majority of PAH mutations identified corresponded to those observed for the PKU populations in the other regions in China,whereas a few are considerably different from others.The mutational spectrum of PAH gene found in patients with PKU in the Huaihai region exhibit regional association.
ABSTRACT
At present, it has been regarded that oral disease was one of the most prevalent problems for people's general health around the world. Oral disease burden study focuses on the pressure and effect of oral diseases to the whole social economy and people's health. Oral disease burden, as a public health problem, needs to be attached importance in China and foreign countries. By means of retrieving the literature, this review article summarizes the progress of domestic and oversea studies on oral disease burden, analyses the epidemiological burden through the indicators such as the prevalence rate, decayed missing and filled teeth, disability adjusted life years, disability weights, and illustrates the economic burden of oral diseases by using part of the data. Results shows that the oral disease burden is obvious in most countries and regions both in China and foreign countries. The study of oral disease burden in China has not been well developed. Giving priority to dental caries, periodontal disease and tooth loss, the prevalence of oral diseases in China is high. The rate of seeking dental treatments is low and the proportion of self-supporting treatments is high. In general, the epidemiological and economic burden of oral diseases is heavier in China than that in the rest of the world.
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President Xi presented an important address in the National Health and Wellness Conference and the high strategic priority for promoting people's health in China was emphasized. Thereafter, a number of documents of state policy on health and wellness were issued successively. These documents covered important contents on oral health, which had great significance as a milestone. This article reviewed the documentation process and analyzed the key points on oral health. The release of these series of government documents had provided policy support for integrating oral health into significant health policies, building the first barrier for oral health, preventing and treating oral diseases based on strategies for common risk factors, adopting strategies to combine both the whole population and high-risk groups, and developing health-centered oral massive health industry, etc.
ABSTRACT
Objective:To investigate the prevalence of volatile sulfur compounds ( VSC ) in oral cavity of preschool children, and to analyze related factors, thus to provide scientific basis for the prediction and treatment of halitosis. Methods:The VSC content ( hydrogen sulfide, methyl mercaptan, dimethyl sul-fide) of 170 preschool children (4 to 6 years old) was detected by a portable gas chromatograph Oral-ChromaTM . The status of the oral health was evaluated. The living habits and other aspects were obtained through questionnaires from the children' s parents. A soft package for social statistics version 13. 0 ( SPSS 13 . 0 ) was used in which univariate analysis and multivariate analysis were utilized to analyze the related factors of halitosis in children. Results:In the study, 34. 4% of the total subjects had excessive VSC. Hydrogen sulfide (H2S) [(1. 59 ± 2. 41) ng/10 mL] and total VSC concentration [(2. 14 ± 4. 42) ng/10 mL] in the girls were significantly higher (P<0. 05) than those in the boys. The tongue coating score had a significant positive correlation with H2S [tongue coating area (1. 68 ± 2. 48) ng/10 mL,tongue coating thickness (2. 18 ± 2. 69) ng/10 mL] and total VSC concentration [ tongue coating area, (2. 26 ± 4. 31) ng/10 mL,tongue coating thickness (2. 41 ± 3. 02) ng/10 mL , P<0. 01]. The site number of DI-S≥2 had a significant positive correlation with methyl mercaptan ( CH3 SH) and dime-thyl sulfide [(CH3)2S] concentration (P<0. 01). The concentration of H2S [(1. 19 ± 1. 62) ng/10 mL] in children, whose mother had a higher degree of education, was statistically lower (P<0. 01).The children who took dessert or sweat drinks more frequently had lower H2S [(1. 04 ± 1. 55) ng/10 mL, P<0. 05] concentration, while CH3SH and (CH3)2S concentration [(0. 29 ± 1. 92) ng/10 mL, (0. 37 ± 2. 06) ng/10 mL, P<0. 05) were higher in the children with mouth -breath habit. Conclu-sion:A high prevalence of halitosis was noted in preschool children. Gender, tongue coating index, deb-ris index-simplified, status of the mother' s education, frequency of eating dessert or sweat drinks and dry mouth breath were related with halitosis of preschool children. The different related factors resulted in changes of each VSC concentration.