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1.
Int J Legal Med ; 138(4): 1255-1264, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38416217

RESUMO

Massively parallel sequencing allows for integrated genotyping of different types of forensic markers, which reduces DNA consumption, simplifies experimental processes, and provides additional sequence-based genetic information. The STRseqTyper122 kit genotypes 63 autosomal STRs, 16 X-STRs, 42 Y-STRs, and the Amelogenin locus. Amplicon sizes of 117 loci were below 300 bp. In this study, MiSeq FGx sequencing metrics for STRseqTyper122 were presented. The genotyping accuracy of this kit was examined by comparing to certified genotypes of NIST standard reference materials and results from five capillary electrophoresis-based kits. The sensitivity of STRseqTyper122 reached 125 pg, and > 80% of the loci were correctly called with 62.5 pg and 31.25 pg input genomic DNA. Repeatability, species specificity, and tolerance for DNA degradation and PCR inhibitors of this kit were also evaluated. STRseqTyper122 demonstrated reliable performance with routine case-work samples and provided a powerful tool for forensic applications.


Assuntos
Impressões Digitais de DNA , Sequenciamento de Nucleotídeos em Larga Escala , Repetições de Microssatélites , Humanos , Impressões Digitais de DNA/métodos , Amelogenina/genética , Reprodutibilidade dos Testes , Análise de Sequência de DNA/métodos , Genótipo , Reação em Cadeia da Polimerase , Especificidade da Espécie , Masculino , Animais , Degradação Necrótica do DNA , Eletroforese Capilar , Feminino
2.
BMC Genomics ; 24(1): 611, 2023 Oct 12.
Artigo em Inglês | MEDLINE | ID: mdl-37828453

RESUMO

Uniparental-inherited haploid genetic marker of Y-chromosome single nucleotide polymorphisms (Y-SNP) have the power to provide a deep understanding of the human evolutionary past, forensic pedigree, and bio-geographical ancestry information. Several international cross-continental or regional Y-panels instead of Y-whole sequencing have recently been developed to promote Y-tools in forensic practice. However, panels based on next-generation sequencing (NGS) explicitly developed for Chinese populations are insufficient to represent the Chinese Y-chromosome genetic diversity and complex population structures, especially for Chinese-predominant haplogroup O. We developed and validated a 639-plex panel including 633 Y-SNPs and 6 Y-Insertion/deletions, which covered 573 Y haplogroups on the Y-DNA haplogroup tree. In this panel, subgroups from haplogroup O accounted for 64.4% of total inferable haplogroups. We reported the sequencing metrics of 354 libraries sequenced with this panel, with the average sequencing depth among 226 individuals being 3,741×. We illuminated the high level of concordance, accuracy, reproducibility, and specificity of the 639-plex panel and found that 610 loci were genotyped with as little as 0.03 ng of genomic DNA in the sensitivity test. 94.05% of the 639 loci were detectable in male-female mixed DNA samples with a mix ratio of 1:500. Nearly all of the loci were genotyped correctly when no more than 25 ng/µL tannic acid, 20 ng/µL humic acid, or 37.5 µM hematin was added to the amplification mixture. More than 80% of genotypes were obtained from degraded DNA samples with a degradation index of 11.76. Individuals from the same pedigree shared identical genotypes in 11 male pedigrees. Finally, we presented the complex evolutionary history of 183 northern Chinese Hans and six other Chinese populations, and found multiple founding lineages that contributed to the northern Han Chinese gene pool. The 639-plex panel proved an efficient tool for Chinese paternal studies and forensic applications.


Assuntos
População do Leste Asiático , Polimorfismo de Nucleotídeo Único , Humanos , Genótipo , Reprodutibilidade dos Testes , Genética Populacional , Haplótipos , Cromossomos Humanos Y/genética , DNA
3.
Electrophoresis ; 41(23): 2029-2035, 2020 12.
Artigo em Inglês | MEDLINE | ID: mdl-32770833

RESUMO

Massively parallel sequencing of forensic STRs simultaneously provides length-based genotypes and core repeat sequences as well as flanking sequence variations. Here, we report primer sequences and concentrations of a next-generation sequencing (NGS)-based in-house panel covering 28 autosomal STR loci (CSF1PO, D1GATA113, D1S1627, D1S1656, D1S1677, D2S441, D2S1776, D3S3053, D5S818, D6S474, D6S1017, D6S1043, D8S1179, D9S2157, D10S1435, D11S4463, D13S317, D14S1434, D16S539, D18S51, D18S853, D20S482, D20S1082, D22S1045, FGA, TH01, TPOX, and vWA) and the sex determinant locus Amelogenin. Preliminary evaluation experiments showed that the panel yielded intralocus- and interlocus-balanced sequencing data with a sensitivity as low as 62.5 pg input DNA. A total of 203 individuals from Yunnan Bai population were sequenced with this panel. Comparative forensic genetic analyses showed that sequence-based matching probability of this 29-plex panel reached 2.37 × 10-29 , which was 23 times lower than the length-based data. Compound stutter sequences of eight STRs were compared with parental alleles. For seven loci, repeat motif insertions or deletions occurred in the longest uninterrupted repeat sequences (LUS). However, LUS and non-LUS stutters co-existed in the locus D6S474 with different sequencing depth ratios. These results supplemented our current knowledge of forensic STR stutters, and provided a sound basis for DNA mixture deconvolution.


Assuntos
Genética Forense/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Repetições de Microssatélites/genética , Análise de Sequência de DNA/métodos , Povo Asiático/genética , China , Humanos , Reação em Cadeia da Polimerase Multiplex
4.
Ann Bot ; 121(2): 255-266, 2018 02 12.
Artigo em Inglês | MEDLINE | ID: mdl-29267935

RESUMO

Background and Aims: To understand the link between species diversity and phenotype developmental evolution is an important issue in evolutionary biology. Yarrows in the genus Achillea (Asteraceae) show a great diversity in leaf serrate or pinnate dissection patterns. In Arabidopsis thaliana, the development of leaf serration requires the activity of the transcription factor CUC2. Does this regulator also work for leaf dissections of the Asteraceae plants? If so, how do the conserved regulatory 'tools' work differently to produce diverse leaf forms? Methods: Seedling leaf morphology was observed, and morphogenesis of leaf serration or lobes was examined by scanning electron microscopy (SEM). NAM genes, orthologues of arabidopsis CUC2, were isolated from A. acuminata with serrate leaves and A. asiatica with three-pinnatisect leaves, respectively. By means of whole-mount in situ mRNA hybridization and two quantitative gene expression assays, the droplet digital PCR (ddPCR) and quantitative real-time PCR (qPCR), expression patterns of the NAM genes during leaf dissection development were checked in both species for comparison. Key Results: For both species, the development of leaf dissection initiated when a leaf blade was about 300-400 µm long. In A. acuminata, in situ hybridization showed NAM expression signals at leaf margins where teeth are growing, or later on, in the sinuses of the teeth, whilst in A. asiatica, hybridization signals appear not only on leaf margins but further on the margins of leaf lobes. Both ddPCR and qPCR revealed a continuous decline of AacNAM expression from the early to the late developmental stages of a single leaf of A. acuminata, whereas a relatively long maintenance and fluctuation of AasNAM expression was seen in a leaf of A. asiatica. Conclusions: Differential spatiotemporal patterns of NAM expression were found between the two yarrow species during development of leaf dissection. This study provides the first evidence for NAM activity in the development of leaf dissection of the Asteraceae plants, and demonstrates that leaf form diversity is correlated to the altered NAM expression dynamic.


Assuntos
Achillea/anatomia & histologia , Genes de Plantas/fisiologia , Folhas de Planta/anatomia & histologia , Achillea/genética , Achillea/ultraestrutura , Passeio de Cromossomo , Regulação da Expressão Gênica de Plantas , Genes de Plantas/genética , Hibridização In Situ , Microscopia Eletrônica de Varredura , Filogenia , Folhas de Planta/genética , Folhas de Planta/ultraestrutura , Proteínas de Plantas/genética , Proteínas de Plantas/fisiologia , Reação em Cadeia da Polimerase em Tempo Real , Plântula/anatomia & histologia , Plântula/ultraestrutura , Fatores de Transcrição/genética , Fatores de Transcrição/fisiologia
5.
Artigo em Inglês | MEDLINE | ID: mdl-34601086

RESUMO

The insects have different physiological and morphological characteristics in various developmental stages. The difference in the characteristics may be related to the different sensitivity of insects to insecticides. In avermectin resistant strain screening assay, we found that the Drosophila larvae displayed a higher sensitivity to the insecticidal effect of avermectin, compared with adults. In this study, we found that the Drosophila larvae have relatively thicker chitin layer, faster avermectin metabolism and lower P-glycoprotein (P-gp) level, when compared with the adults. Besides, the expression levels of the molecular targets of avermectin, glutamate-gated chloride channel and γ-aminobutyric acid (GABA)-gated chloride channel, are lower in the larval stage than the adult. These results suggested that lower P-gp level in the body especially in brain may be the major reason for the higher sensitivity of Drosophila larvae to the insecticide. In summary, these results shed new light on the concept that different developmental stages of insects display different sensitivity to the same insecticide, which also provided a physiological explanation of the relevant mechanism of the difference of sensitivity of insect at its larval and adult stages to insecticide.


Assuntos
Drosophila melanogaster/metabolismo , Resistência a Inseticidas , Inseticidas/toxicidade , Ivermectina/análogos & derivados , Larva/metabolismo , Animais , Ivermectina/toxicidade
6.
Forensic Sci Int Genet ; 59: 102720, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35594656

RESUMO

Microhaplotypes are forensic genetic markers that combine single nucleotide polymorphisms in close proximity to one another. Highly discriminative microhaplotype markers could be superior to short tandem repeats (STRs) in DNA mixture deconvolution investigations because they are not interfered by stutters. In this study, the effective number of alleles (Ae) and discrimination power values of microhaplotypes and STRs were compared. It was found that current microhaplotypes are not as discriminative as commonly used forensic STRs. Effective screening of highly discriminative microhaplotype markers were consequently conducted for East Asian populations. To satisfy different forensic application needs, four sets of microhaplotypes with Ae values ≥ 4 were screened for under different conditions that included marker length and physical distances between markers. While the four sets contained 703, 301, 337, and 190 microhaplotypes, their average Ae values reached 5.38, 6.30, 7.39, and 5.61, respectively. The microhaplotype group containing 301 markers (maximum length of 200 bp and separated by ≥ 5 million bases) was further investigated. The results showed that none of the 301 loci were exactly the same as those previously reported, while seven loci partially overlapped with known markers. While Ae values of 45 loci were ≥ 8, the Ae value of the mh17WL-008 locus reached a maximum of 93.57. Further analysis showed that the newly identified microhaplotype markers were also highly polymorphic in African, American, European, and South Asian populations.


Assuntos
Genética Forense , Sequenciamento de Nucleotídeos em Larga Escala , Impressões Digitais de DNA/métodos , Genética Forense/métodos , Frequência do Gene , Genética Populacional , Haplótipos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Repetições de Microssatélites , Polimorfismo de Nucleotídeo Único
7.
Forensic Sci Int Genet ; 61: 102763, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35939876

RESUMO

Microhaplotypes have been highly regarded for forensic mixture DNA deconvolution because they do not experience interference from stutters in the same way as short tandem repeat markers, and they tend to be more polymorphic than single nucleotide polymorphism markers. However, forensic microhaplotype kits have not been reported. The MHSeqTyper47 kit genotypes 47 microhaplotype loci. In this study, MiSeq FGx sequencing metrics for MHSeqTyper47 were presented, and the genotyping accuracy of this kit was examined. The sensitivity of MHSeqTyper47 reached 62.5 pg, and full genotyping results were obtained from degraded DNA samples with degradation indexes ≤ 3.00. Full genotypes were obtained in the presence of 100 ng/µL tannin, 50 µM heme, 25 ng/µL humic acid, and 1.25 µg/µL indigo dye. In DNA mixture studies, a minimum of 31 loci of the minor contributor were correctly genotyped at 1:99 or 99:1 mixing ratios, with the cumulative random matching probability of these loci reaching 4.54 × 10-25. Mixing ratios could be reliably predicted from two-donor DNA mixtures based on the loci with four called alleles. Taken together, these data showed that the MHSeqTyper47 kit was effective for forensically challenging DNA analysis.


Assuntos
Impressões Digitais de DNA , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Impressões Digitais de DNA/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Substâncias Húmicas/análise , Índigo Carmim , Repetições de Microssatélites , DNA/genética , DNA/análise , Análise de Sequência de DNA , Polimorfismo de Nucleotídeo Único , Heme , Taninos
8.
Forensic Sci Int Genet ; 59: 102727, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35660778

RESUMO

Sequence polymorphisms of Y chromosome short tandem repeat (Y-STR) markers can be unveiled using next generation sequencing (NGS). Compared to capillary electrophoresis, NGS has the advantage of distinguishing between some alleles of the same length. Here, a 68-plex in-house panel covering 67 Y-STR loci and the sex determinant Amelogenin locus, was developed. The accuracy of this panel was 100% concordant with three standard reference samples. The sensitive was as low as 250 pg. A total of 466 length-based alleles, 806 sequence-based alleles, and 149 haplotypes were observed across 149 Chinese Han individuals. The total haplotype diversity and discrimination capacity was 1.0000 in detected samples. The DYS710 locus possessed the highest diversity by sequence among these Y-STRs, with 109 sequence-based alleles observed. Micro-variant alleles with the same length were observed in 39 Y-STR loci, with their sequence variations mainly attributable to repeat pattern variations. While the number of sequence-based alleles identified for DYS447, DYS449, DYS710, DYS720 and DYF387S1a/b was approximately three times that of their length-based alleles, flanking sequence variations were observed in 18 alleles. In addition, 201 sequence-based alleles in 42 loci were newly discovered. This significantly expanded the knowledge of human Y-STR sequence polymorphisms. Collectively, the 68-plex panel provided reliable Y-STR results as well as higher resolution for paternal lineage analysis.


Assuntos
Impressões Digitais de DNA , Sequenciamento de Nucleotídeos em Larga Escala , Alelos , Cromossomos Humanos Y , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Repetições de Microssatélites , Polimorfismo de Nucleotídeo Único
9.
Forensic Sci Int Genet ; 55: 102580, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34454122

RESUMO

Next generation sequencing (NGS)-based single nucleotide polymorphism (SNP) genotyping is widely used in the field of forensics. SNP genotyping data from several NGS platforms have been published, but forensic application trials of DNA nanoball sequencing platforms have been very limited. In this work, we developed a 448-plex SNP panel on the BGISEQ-500RS platform. The sequencing metrics of a total of 261 samples that were sequenced with this panel are reported in detail. The average sequencing depth was 8373 × and the average heterozygosity of the 448-plex assay was 0.85. Sensitivity analysis showed that 325 SNPs were successfully genotyped with as little as 50 pg of genomic DNA, with the mean quality score of the sequencing data above Q30. Forensic parameters were calculated based on the data of 142 unrelated Chinese Han individuals and the combined matching probability was as low as 5.21 × 10-101. Kinship analyses based on experiments and computer simulations showed that the 448-panel was as effective as the ForenSeq™ DNA Signature Prep Kit for second-degree kinship identification, and when the two panels were merged, the related pairs were almost completely distinguished from unrelated pairs. The 448-plex SNP panel on the BGISEQ-500RS platform provides a powerful tool for forensic individual identification and kinship analysis.


Assuntos
Repetições de Microssatélites , Polimorfismo de Nucleotídeo Único , Impressões Digitais de DNA , Genética Forense , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Análise de Sequência de DNA
10.
Forensic Sci Int Genet ; 51: 102424, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33248347

RESUMO

Short tandem repeat (STR) profiling is routinely used in forensic genetics. At present, STR analysis is mainly performed by capillary electrophoresis (CE). However, due to limitations associated with the CE method, STR genotyping has been limited to length polymorphisms only. Because next generation sequencing (NGS) is capable of providing full resolution STR data at the sequence variation level, the individual identification capability of forensic STR loci could be significantly improved. Here we present sequence-based STR data for the Beijing Han population in which 291 individuals were screened for 23 commonly used forensic STRs using the SeqTypeR24 CASE kit on an Ion PGM platform. In total, 234 length-based alleles and 356 sequence-based alleles, which included 22 novel core repeat sequences, were observed. The sequence-based matching probability and power of discrimination were superior to the length-based numbers for 16 loci bearing micro-variant alleles. Combined matching probability reached 8.2 × 10-29 for 23 STR loci at the sequence level. This was two orders of magnitude higher than the parameters at length level and provides a data base for sequence-based STR casework applications.


Assuntos
Alelos , Etnicidade/genética , Variação Genética , Repetições de Microssatélites , China , Impressões Digitais de DNA , Genética Populacional , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Reação em Cadeia da Polimerase , Análise de Sequência de DNA
11.
AMB Express ; 10(1): 33, 2020 Feb 18.
Artigo em Inglês | MEDLINE | ID: mdl-32072335

RESUMO

Chemical pesticides are used widely and their residues are found in the environment. Pesticide pollution has become a global problem. To find an economical, effective and safety way to degrade residues of pesticides in environment, we constructed a genetically engineered bacterium (GEB) having the ability to degrade pesticides, emit green fluorescence and has a containment system by using a dual plasmid expression system. One plasmid contains the genes of enhanced green fluorescent protein (EGFP) and carboxylesterase B1 (CarE B1), which were cloned downstream of lambda PL promoter and expressed constitutively. The gene of CarE B1 encodes an insect-detoxifying enzyme possessing the degradability to organochloride pesticides, organophosphorus pesticides, carbamates, and pyrethoid insecticides. The other is the conditional suicide plasmid for containment system, in which the lethal gene used was the nuclease gene of Serratia marcescens without the leader-coding sequence and was placed downstream of T7 promoter. The GEB has wide prospects of application on cleanup of pesticide residues with its degradability to several pesticides and containment system.

12.
Sci Rep ; 10(1): 1945, 2020 02 06.
Artigo em Inglês | MEDLINE | ID: mdl-32029845

RESUMO

Microhaplotypes are an emerging type of forensic genetic marker that are expected to support multiple forensic applications. Here, we developed a 124-plex panel for microhaplotype genotyping based on next-generation sequencing (NGS). The panel yielded intralocus and interlocus balanced sequencing data with a high percentage of effective reads. A full genotype was determined with as little as 0.1 ng of input DNA. Parallel mixture experiments and in-depth comparative analyses were performed with capillary-electrophoresis-based short tandem repeat (STR) and NGS-based microhaplotype genotyping, and demonstrated that microhaplotypes are far superior to STRs for mixture deconvolution. DNA from Han Chinese individuals (n = 256) was sequenced with the 124-plex panel. In total, 514 alleles were observed, and the forensic genetic parameters were calculated. A comparison of the forensic parameters for the 20 microhaplotypes with the top Ae values in the 124-plex panel and 20 commonly used forensic STRs showed that these microhaplotypes were as effective as STRs in identifying individuals. A linkage disequilibrium analysis showed that 106 of the 124 microhaplotypes were independently hereditary, and the combined match probability for these 106 microhaplotypes was 5.23 × 10-66. We conclude that this 124-plex microhaplotype panel is a powerful tool for forensic applications.


Assuntos
Genética Forense , Haplótipos/genética , Polimorfismo de Nucleotídeo Único/genética , Alelos , Povo Asiático/genética , DNA/genética , Impressões Digitais de DNA/métodos , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Desequilíbrio de Ligação/genética , Repetições de Microssatélites/genética , Probabilidade , Análise de Sequência de DNA/métodos
13.
J Org Chem ; 74(9): 3286-92, 2009 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-19331356

RESUMO

o-Acetaminophenols (2) reacted with Vilsmeier reagent under Meth-Cohn conditions to yield 2-formylpyrido[2,1-b]benzoxazoles (5) unexpectedly besides the known compounds 2-(benzoxazol-2'-yl)-3-dimethylaminoacroleins (4). Refluxing 4 in acetic anhydride gave 4-formylpyrido[2,1-b]benzoxazoles (6), an isomer of 5. Both 5a and 6a were structurally characterized by X-ray crystallography. A mechanism for the formation of 5 involving sequential chlorination, dimerization, intramolecular elimination of HCl to form the oxazole ring, formylation twice, and regioselective intramolecular nucleophilic cyclization to construct the pyridone ring is proposed.


Assuntos
Benzoxazóis/síntese química , Benzoxazóis/química , Estereoisomerismo , Especificidade por Substrato
14.
Medicine (Baltimore) ; 98(14): e14607, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30946309

RESUMO

BACKGROUND: The aim of this study was to assess the efficacy of naproxen in preventing heterotopic ossification (HO) after hip surgery (total hip arthroplasty [THA] and hip arthroscopy). METHODS: Using databases (PubMed, EMBASE, and Web of Science), we conducted an electronic, systematic search of randomized controlled trials (RCTs) comparing naproxen versus placebo on HO after hip surgery. The risk ratio (RR) of the dichotomous data, weighted mean difference (WMD) of continuous data, and 95% confidence intervals (CIs) were calculated to assess the effects of naproxen in patients with hip surgery. RESULTS: A total of 4 studies including 269 patients were analyzed. Risk of bias was relatively high in allocation concealment and blinding. Compared with control group, administration naproxen was associated with a significantly reduction of the occurrence of HO at final follow-up after hip surgery (P < .05). What's more, naproxen was associated with a reduction of the Brooker I and II HO (P < .05). However, there was no significant difference between the Brooker III HO between naproxen and control groups (P > .05). Furthermore, there was no significant difference between the complications (P > .05) between naproxen and control groups. CONCLUSION: Naproxen has a beneficial role in reducing the total occurrence of HO, Brooker I and II HO after hip surgery. However, conclusions are limited due to the lack of high-quality studies. More high quality studies may help in a more reliable therapy for HO.


Assuntos
Articulação do Quadril/cirurgia , Naproxeno/uso terapêutico , Ossificação Heterotópica/prevenção & controle , Anti-Inflamatórios não Esteroides/administração & dosagem , Anti-Inflamatórios não Esteroides/uso terapêutico , Artroplastia de Quadril/efeitos adversos , Artroscopia/efeitos adversos , Humanos , Naproxeno/administração & dosagem , Ossificação Heterotópica/complicações , Complicações Pós-Operatórias , Ensaios Clínicos Controlados Aleatórios como Assunto
15.
Artigo em Chinês | WPRIM | ID: wpr-1039114

RESUMO

ObjectiveTo investigate the genetic polymorphism and structure of 47 autosomal microhaplotypes in the Han population in Changshu City, Jiangsu Province, and to evaluate the forensic efficiencies and forensic parameters. MethodsThe DNA library of unrelated individual samples was prepared according to MHSeqTyper47 kit manual and sequenced on the MiSeq FGx platform. Microhaplotype genotyping and sequencing depth statistics were processed using MHTyper. The genetic information of samples was then evaluated. The fixation index and genetic distance between the Jiangsu Changshu population and the reference populations in the 1000 Genomes Project phase 3 (1KG) were calculated, and forensic parameters were evaluated. ResultsThe fixation index and genetic distance between the Han population in Changshu, Jiangsu, and the CHB (Han Chinese in Beijing, China) reference population in 1KG were the lowest. The effective allele number (Ae) of each locus is also the closest between the two populations. The combined matching probability (CMP) of the Changshu Han population is close to the 5 populations of the East Asian reference super-population in 1KG, which is 1.25×10-36, and the combined probability of exclusion reached 0.999 999 999 964 1. ConclusionThis study reported the genetic polymorphism and allele frequency of 47 microhaplotypes in a Han population in Changshu City, Jiangsu Province. This information provides a data basis for 47 microhaplotypes in forensic applications. In addition, the polymorphism differences between the 1KG reference population and the Han population in Changshu, Jiangsu were compared, and the genetic structure of 47 microhaplotypes in the Han population in Changshu, Jiangsu was revealed. In general, the reference data of the East Asian super-population in 1KG is more in line with the genetic characteristics of Han population in Changshu, Jiangsu.

16.
J Laparoendosc Adv Surg Tech A ; 26(11): 938-941, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27676654

RESUMO

OBJECTIVE: Laparoscopic surgery is the current accepted approach in most pediatric surgical centers. In an attempt to further minimize the surgical trauma and improve cosmetic outcome, new techniques with a single incision through the umbilicus have been proposed and we believe they will become the standard choices for pediatric surgery. This report describes our initial experience with transumbilical single-incision laparoscopic surgery (TSILS) in children with conventional instruments. MATERIALS AND METHODS: A retrospective review of 82 pediatric patients who underwent TSILS in children with conventional instruments from January 2011 to June 2015 was performed. The operations included 56 appendectomies, 9 cholecystectomies, and 17 spermatic vein ligations. RESULTS: The average age by procedure was 6.2 years for appendectomy (range of 3-14 years); 12.4 years for cholecystectomy (range of 10-14 years); and 12.8 years for spermatic vein ligation (range of 11-14 years). The average operative time was 32 minutes for appendectomy (range of 25-56 minutes); 54 minutes for cholecystectomy (range of 35-95 minutes); and 23 minutes for spermatic vein ligation (range of 17-41 minutes). The average length of staying in hospital was 3 days (range of 2-5 days). All of the operations in 82 cases were successful. None required conversion to open or conventional laparoscopic surgery. There was no obvious wound pain. In addition, there were no wound infections on umbilicus and any other intraoperative complications. There was no obvious scar at patients' umbilicus after postoperative follow-up for 2-4 weeks. CONCLUSIONS: TSILS is a safe and viable technique that may be used successfully in pediatric surgery. Additionally, excellent cosmetic results are obtained as evidenced by imperceptible umbilical scarring.


Assuntos
Apendicectomia/métodos , Colecistectomia Laparoscópica/métodos , Umbigo , Varicocele/cirurgia , Adolescente , Criança , Pré-Escolar , Cicatriz , Feminino , Humanos , Laparoscopia/métodos , Masculino , Duração da Cirurgia , Dor Pós-Operatória/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Resultado do Tratamento
17.
Artigo em Chinês | WPRIM | ID: wpr-750740

RESUMO

Objective@#To explore the clinical epidemiological characteristics and treatment methods of maxillofacial fracture patients in the Kashgar Prefecture to provide a reference for clinical diagnosis and treatment.Methods The medical records of 1 115 patients with maxillofacial fracture admitted to the First People's Hospital of Kashgar from November 2011 to November 2016 were retrospectively analyzed by age composition, sex ratio, cause of trauma, time of injury, site of injury and systemic complications.@*Methods@#The medical records of 1 115 patients with maxillofacial fracture admitted to the First People's Hospital of Kashgar from November 2011 to November 2016 were retrospectively analyzed by age composition, sex ratio, cause of trauma, time of injury, site of injury and systemic complications.@*Results @#Among the 1 115 patients, the ratio of males to females was 4.7∶1, and those aged 21 to 30 years accounted for the majority of patients, with most injuries occurring in the summer (31.38%) and spring (29.69%). The most common cause of trauma was falling (38.57%), followed by traffic accidents (36.95%). Midfacial fractures were the most frequently observed (65.38%), followed by mandibular fractures(30.26%). In all, 42.15% of cases were complicated with systemic injuries, the majority being ocular injuries (35.55%), followed by limb injuries (21.67%). The majority of patients (50.04%) chose treatment by open reduction and internal fixation. Logistic regression analysis showed that males were more prone to midfacial fractures than females. The occurrence of midfacial fracture became more likely with increasing age.@*Conclusion @# In the Kashgar Prefecture, the majority of patients with maxillofacial fracture are male and young or middle-aged. Most maxillofacial fractures occur in the spring or summer and are mainly caused by falling or traffic accidents. Fractures in the middle part of the face are more common. Ocular injury is the most common complication, and in most cases, the fracture is treated by open reduction and internal fixation. The occurrence of midfacial fracture is closely related to age, sex and cause of trauma.

18.
Chin Med J (Engl) ; 126(13): 2465-71, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23823819

RESUMO

BACKGROUND: Magnetic resonance imaging (MRI) is the most sensitive technique for evaluating the healing process and should be performed before the patients return to their exercise routines. The aim of this research was to diagnose chronic lumbago associated with lumbar muscle strain and to monitor healing process by MRI. METHODS: Sixty-fve symptomatic cases of chronic lumbago caused by lumbar muscle strain were collected from March 2009 to October 2011. MRI was used to examine, diagnose and monitor the healing process. The control group included 65 random cases of asymptomatic volunteers. MRI methods included routine sequences of GRE T1WI, TSE T2WI and special sequences of T2-STIR-FS, combined with DWI. We compared the MRI characteristics of symptomatic cases before and after healing and with asymptomatic controls. RESULTS: The important MRI characteristics of chronic lumbago with lumbar muscle strain included: (1) The low back muscle showed edema. (2) The low back intermuscular spaces showed edema and/or fluid. (3) The low back spaces beside the spinous process showed edema and/or fluid. (4) The low back vertebral articular process fossae or transverse process fossae showed fluid. Of these image characteristics, the intermuscular space edema provided the best diagnostic sensitivity, Se = 83%, with YI = 0.63, p = 74%. The low back muscle edema provided the best diagnostic specificity, Sp = 100%, with YI = 0.66, Π = 83%. And the spaces edema beside the spinous process provided the best diangnostic accuracy, Π = 86%, with YI = 0.71, Se = 80%, Sp = 91%. The diagnosis accurate could be improved by combining multiple MRI characteristics. The diagnostic accuracy could achieve Π = 93%, with YI = 0.86, Se = 100% and Sp = 86% when two characteristics were combined. After rehabilitation care, the edema disappeared on the repeated MRI. CONCLUSIONS: MRI may well be a useful diagnostic method for lumbago with lumbar muscle strain. Combining routine sequences with T2-STIR-FS and DWI sequences could demonstrate the pathological changes of lumbar muscle strain and monitor the healing.


Assuntos
Dor Lombar/diagnóstico , Imageamento por Ressonância Magnética/métodos , Entorses e Distensões/complicações , Adulto , Doença Crônica , Imagem de Difusão por Ressonância Magnética , Feminino , Humanos , Dor Lombar/etiologia , Masculino , Pessoa de Meia-Idade , Cicatrização
19.
Asian Pac J Cancer Prev ; 14(8): 4733-7, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24083735

RESUMO

PURPOSE: Numerous observational epidemiological studies have evaluated associations between breastfeeding and the risk of childhood Hodgkin lymphoma; however, the existing results are inconsistent. We therefore conducted a systematic review and meta-analysis. METHODS: Medical literature was searched in the Pubmed and Embase databases to identify all English-language relevant studies up to April 10, 2013. Reference lists were thereafter hand-searched for additional articles. Studies that reported relative risk ratios (RRs) or odds ratios (ORs) with 95% confidence intervals (CIs) were included. This meta-analysis was conducted in accordance with the guidelines for the meta-analysis of observational studies in epidemiology. RESULTS: We finally included 10 case-control studies in our meta-analysis, involving 1,618 childhood Hodgkin lymphoma cases and 8,181 controls. Overall, we did found a borderline significant association between breastfeeding and reduced risk of childhood Hodgkin lymphoma comparing ever breastfed children to never breastfed children (pooled OR =0.79; 95%CI, 0.58-1.08; P=0.13), with limited evidence for between-study heterogeneity (P =0.12, I2 = 35.70%). CONCLUSION: There is limited evidence for an inverse association between breastfeeding and risk of childhood Hodgkin lymphoma.


Assuntos
Aleitamento Materno/efeitos adversos , Doença de Hodgkin/etiologia , Estudos de Casos e Controles , Criança , Humanos , Metanálise como Assunto , Prognóstico , Fatores de Risco
20.
Artigo em Chinês | WPRIM | ID: wpr-702324

RESUMO

Objective To evaluate the preliminary experience and mid-term outcome of transcatheter aortic valve replacement(TAVR)in patients with calcifi ed severe aortic stenosis.Methods From December 2014 to February 2016, 10 TAVR cases were admitted in the Cardiovascular Hospital, Xiamen University. The baseline characteristics, echocardiography parameters and clinical follow-up data were analyzed. Results All cases were complicated with impaired heart function(NYHAⅢ in 4 cases, NYHA Ⅳ in 6 cases). The mean age was (75.1±6.2) years and 4(4/10) of them were men. The mean logistic EuroSCORE was (27.2±23.6) % and the mean society of thoracic surgery (STS) mortality score was (9.1±4.8) %. Five cases had bicuspid aortic valve. TAVR was successfully performed in all 10 patients, and valve-in-valve implantation was done in 1 (10%) case. Immediately after procedure, the peak trans-aortic valve pressure gradient decreases from (85.9±22.7) mmHg to (23.2±5.4) mmHg. One case had marginal moderate periprosthetic leak and one case received stent implantation for femoral artery complication during the procedure. During hospitalization, 1 case had blood transfusion for gastrointestinal bleeding and permanent pacemakers were implanted in 2 (2/10) cases. The survival rate was 10/10 at 30 days after TAVR. One case with end-stage renal disease died for gastrointestinal bleeding 36 days after TAVR. For the other 9 patients, 12 months echocardiography data showed that the peak and mean trans-aortic valve gradient was (20.0±5.2) mmHg and (10.6±3.1) mmHg respectively. The lef t ventricular diastolic diameter(LVDD)decreased[(56.5±9.4)mm vs.(51.8±7.6)mm,P=0.035] and left ventricular ejection fraction(LVEF)increased significantly[(46.9±22.2)% vs.(63.7±9.4)%, P=0.029].To date,median follow-up period was(22.0±4.8)month.Clinical symptoms improved in all the 9 cases. The patient with periprosthetic leak had record of hospitalization for several times due to heart failure. Conclusions From the initial TAVR experience of our hospital, TAVR can be done safely and smoothly after strictly TAVR candidate cases selection.

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