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1.
Infect Dis Poverty ; 7(1): 106, 2018 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-30340513

RESUMO

BACKGROUND: Tuberculosis (TB) is still one of the most serious infectious diseases in the mainland of China. So it was urgent for the formulation of more effective measures to prevent and control it. METHODS: The data of reported TB cases in 340 prefectures from the mainland of China were extracted from the China Information System for Disease Control and Prevention (CISDCP) during January 2005 to December 2015. The Kulldorff's retrospective space-time scan statistics was used to identify the temporal, spatial and spatio-temporal clusters of reported TB in the mainland of China by using the discrete Poisson probability model. Spatio-temporal clusters of sputum smear-positive (SS+) reported TB and sputum smear-negative (SS-) reported TB were also detected at the prefecture level. RESULTS: A total of 10 200 528 reported TB cases were collected from 2005 to 2015 in 340 prefectures, including 5 283 983 SS- TB cases and 4 631 734 SS + TB cases with specific sputum smear results, 284 811 cases without sputum smear test. Significantly TB clustering patterns in spatial, temporal and spatio-temporal were observed in this research. Results of the Kulldorff's scan found twelve significant space-time clusters of reported TB. The most likely spatio-temporal cluster (RR = 3.27, P <  0.001) was mainly located in Xinjiang Uygur Autonomous Region of western China, covering five prefectures and clustering in the time frame from September 2012 to November 2015. The spatio-temporal clustering results of SS+ TB and SS- TB also showed the most likely clusters distributed in the western China. However, the clustering time of SS+ TB was concentrated before 2010 while SS- TB was mainly concentrated after 2010. CONCLUSIONS: This study identified the time and region of TB, SS+ TB and SS- TB clustered easily in 340 prefectures in the mainland of China, which is helpful in prioritizing resource assignment in high-risk periods and high-risk areas, and to formulate powerful strategy to prevention and control TB.


Assuntos
Tuberculose/epidemiologia , China/epidemiologia , Geografia Médica , História do Século XXI , Humanos , Vigilância em Saúde Pública , Estações do Ano , Análise Espaço-Temporal , Tuberculose/história , Tuberculose/microbiologia , Tuberculose/prevenção & controle
2.
Zhonghua Yi Xue Za Zhi ; 86(10): 652-8, 2006 Mar 14.
Artigo em Chinês | MEDLINE | ID: mdl-16681918

RESUMO

OBJECTIVE: To identify the disease-causing genetic alteration of split-hand/split-foot malformation (SHFM) in a Chinese family. METHODS: Three of the 5 affected individuals from a four-generation Chinese SHFM family were examined physically and radiologically. Peripheral blood samples were collected from Digital photographs of the malformed hands and feet were taken. Peripheral blood samples were collected from 2 affected individuals, and lymphocytes were isolated to undergo high resolution G-banding. Genomic DNA was extracted from the whole blood samples of 4 available family members, including the 3 affected individuals. All 16 exons and their flanking intronic sequences of the TP63 gene were amplified using polymerase chain reaction (PCR) and sequenced directly. Microsatellite markers from the five SHFM loci were analyzed in the available family members by PCR, polyacrylamide gel electrophoresis and silver staining. For semi-quantitative determination of the allele copy number, the polymorphic PCR-amplified fragments representing genetic markers from the SHFM3 locus at chromosome 10q24.3 were sequenced in the affected individuals using normal individuals with identical genotypes as controls. RESULTS: All 3 existing affected individuals showed absence of 3 radial fingers, 2 affected individuals had a deep central cleft and central ray deficiency in the feet, and 1 affected individual had a fibular monodactyli, all limb malformations being bilateral and consistent with the phenotype of typical SHFM. G-banding showed normal karyotypes in the 3 affected individuals and no visible cytogenetic abnormality was found. Moreover, no mutation was identified in the TP63 gene. While no haplotype sharing was observed in the markers from loci SHFM1, SHFM4 and SHFM5, potential haplotype sharing was detected in the markers from two loci, SHFM2 and SHFM3, indicating possible causative mutation at SHFM2 or SHFM3. Furthermore, obviously biased silver density toward the allele fragments shared by the 3 affected individuals was observed in the markers from the SHFM3 locus. Comparative sequencing showed roughly one-fold increase of fluorescent signal of the shared fragments in the affected individuals. These results suggested a large-scale DNA duplication within the SHFM3 locus. CONCLUSION: A large-scale DNA duplication within the SHFM3 locus at chromosome 10q24.3 has been identified as the pathogenic genetic change in Chinese patients with SHFM.


Assuntos
Cromossomos Humanos Par 10/genética , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Sequências Repetitivas de Ácido Nucleico , Sequência de Bases , China , Saúde da Família , Feminino , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Estudos Retrospectivos
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 21(5): 482-4, 2004 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-15476176

RESUMO

OBJECTIVE: The paper is a study on the clinical symptoms and pathogeny of ectrodactyly and absence of radius side part palm and split foot malformation of some patients in one family. METHODS: Based on the patient family investigation,a normal control group and a patient group were established. Then, polymerase chain reaction technique was used for DNA sequencing and analysis of the two groups for their exons 5-8 gene group DNA of P63 gene. RESULTS: The medical examination found that the patients' upper bilateral limbs are short of thumbs, forefingers and middle fingers, and have radius side part palm and double lower limbs foot clefts malformation. The pathogeny research revealed that the PCR expansion pieces of the exons 5-8 of P63 are 284 bp, 259 bp, 245 bp and 259 bp respectively, and the size of the expansion piece of the patients was the same as that of the normal people group. However, a respective comparison between the DNA serial of the expansion piece of the patient and that of the normal people group and that of the P63 gene in the human gene bank showed that mutation occurs at the number 665 base pair of exon 5 of P63, namely a mutation from G to A. CONCLUSION: The ectrodactyly, absence of radius side part palm and split foot malformation are caused by the mutation of base pair at number 665 of the exon 5 of P63.


Assuntos
Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Éxons/genética , Feminino , Deformidades Congênitas do Pé/patologia , Predisposição Genética para Doença , Deformidades Congênitas da Mão/patologia , Humanos , Masculino , Proteínas de Membrana/genética , Mutação , Linhagem , Reação em Cadeia da Polimerase
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