ABSTRACT
Objective To understand the value of poisson distribution in monitoring and early warning of hand-foot-mouth disease( HFMD). Methods Alert data based on infectious disease reports from 2009 to 2011 were used to establish a database. Moving average method was employed to set the number of expected cases each week. The probability of outbreak was calculated by poisson's distribution. If the probability was smaller than a standard,the signal of early warning was sent out. Epidemiological investigation was used to verify it. Results Using this method,44 abnormal signals of HFMD were probed,and 33 signals were verified. The positive rate,sensitivity,specificity and Youden 's index were 75. 00%,94. 29%,35. 29% and 29. 58% respectively. Compared to the moving average control chart and the automatic early-warning information system of infectious diseases,it was more efficient. Conclusions The poisson distribution with the moving average method can be used as an effective method in early warning system of HFMD.
ABSTRACT
Objective To explore and analyze the spatial distribution characteristics of hand - foot - mouth disease in Hangzhou city. Methods Based on the incidence of hand - foot - mouth disease, the whole and local spatial autocorrelation analysis was used to test the spatial heterogeneity by the software GeoDa095i. Results A total of 5534 cases of hand-foot-mouth disease were reported in Hangzhou city in 2011 with the reported incidence of 63. 61/100000. The wholel Moran’s I index was 0. 33(P<0. 05)indicating that the disease had high spatial cluster occurrence. Local spatial autocorrelation analysis showed that several districts including Gongshu,Jianggan,Xihu and Xiaoshan had high cluster occurrence(LISA=0. 4135,0. 4600,0. 1785 and 0. 3508 respectively,all P<0. 05)while Chun′an county and Tonglu county had the low cluster occurrence(LISA=0. 6923 and 0. 6762 respectively,both P<0. 05). Conclusion The spatial distribution of hand - foot - mouth disease in Hangzhou city is not random distribution and has aggregation phenomenon.
ABSTRACT
<p><b>OBJECTIVE</b>Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by formation of benign cartilage-capped tumors (exostoses), typically located at the juxtaepiphyseal regions of long bones. It is genetically heterogeneous with at least three chromosomal loci: EXT1 on 8q24.1, EXT2 on 11p11, and EXT3 on 19p. EXT1 and EXT2 have been cloned and are responsible for over 80% of cases. A Chinese family with HME has been analyzed in the present study.</p><p><b>METHODS</b>Linkage analysis was firstly performed to determine which of the three EXT genes could be the candidate gene, then mutation screening by PCR and direct sequencing was carried out.</p><p><b>RESULTS</b>A novel nonsense mutation (c.1006C>T) in exon 6 of EXT2, which converts the codon CAA (Gln) to the stop codon (TAA) (Gln336X), was identified. Next, prenatal diagnosis was performed and the pregnancy was determined to be normal.</p><p><b>CONCLUSION</b>A new EXT2 nonsense mutation was found in a Chinese family with hereditary multipe exostoses. The information was used for a case of prenatal diagnosis.</p>
Subject(s)
Female , Humans , Male , Asian People , Genetics , Codon, Nonsense , DNA Mutational Analysis , Exons , Genetics , Exostoses, Multiple Hereditary , Genetics , Family , Mutation , N-Acetylglucosaminyltransferases , Genetics , PedigreeABSTRACT
<p><b>BACKGROUND</b>Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia.</p><p><b>METHODS</b>Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers (D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction (PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation.</p><p><b>RESULTS</b>Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA).</p><p><b>CONCLUSIONS</b>Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.</p>