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1.
BMC Med Inform Decis Mak ; 23(1): 210, 2023 10 10.
Artículo en Inglés | MEDLINE | ID: mdl-37817193

RESUMEN

BACKGROUND: Electronic medical records (EMRs) contain a wealth of information related to breast cancer diagnosis and treatment. Extracting relevant features from these medical records and constructing a knowledge graph can significantly contribute to an efficient data analysis and decision support system for breast cancer diagnosis. METHODS: An approach was proposed to develop a workflow for effectively extracting breast cancer-related features from Chinese breast cancer mammography reports and constructing a knowledge graph for breast cancer diagnosis. Firstly, the concept layer of the knowledge graph for breast cancer diagnosis was constructed based on breast cancer diagnosis and treatment guidelines, along with insights from clinical experts. .Next, a BiLSTM-Highway-CRF model was designed to extract the mammography features, which formed the data layer of the knowledge graph. Finally, the knowledge graph was constructed by combining the concept layer and the data layer in a Neo4j graph data platform, and then applied in visualization analysis, semantic query and computer assisted diagnosis. RESULTS: Mammographic features were extracted from a total of 1171 mammography examination reports. The overall extraction performance of the model achieved an accuracy rate of 97.16%, a recall rate of 98.06%, and a F1 score of 97.61%. Additionally, 47,660 relationships between entities were identified based on the four different types of relationships defined in the concept layer. The knowledge graph for breast cancer diagnosis was constructed after inputting mammographic features and relationships into the Neo4j graph data platform. The model was assessed from the concept layer, data layer, and application layer perspectives, and showed promising results. CONCLUSIONS: The proposed workflow is applicable for constructing knowledge graphs for breast cancer diagnosis based on Chinese EMRs. This study serves as a reference for the rapid design, construction, and application of knowledge graphs for diagnosis and treatment of other diseases. Furthermore, it offers a potential solution to address the issues of limited data sharing and format inconsistencies present in Chinese EMR data.


Asunto(s)
Neoplasias de la Mama , Registros Electrónicos de Salud , Femenino , Humanos , Neoplasias de la Mama/diagnóstico por imagen , Pueblos del Este de Asia , Reconocimiento de Normas Patrones Automatizadas , Semántica , Almacenamiento y Recuperación de la Información , Simulación por Computador , Visualización de Datos
2.
Fa Yi Xue Za Zhi ; 39(2): 193-199, 2023 Apr 25.
Artículo en Inglés, Zh | MEDLINE | ID: mdl-37277383

RESUMEN

Talent is one of the basic and strategic supports for building a modern socialist country in all aspects. Since the 1980s, the establishment of forensic medicine major and the cultivation of innovative talents in forensic medicine have become hot topics in higher education in forensic medicine. Over the past 43 years, the forensic medicine team of Shanxi Medical University has adhered to the joint education of public security and colleges, and made collaborative innovation, forming a training mode of "One Combination, Two Highlights, Three Combinations, Four in One" for innovative talents in forensic medicine. It has carried out "5+3/X" integrated reform, and formed a relatively complete talent training innovation mode and management system in teaching, scientific research, identification, major, discipline, team, platform and cultural construction. It has made a historic contribution to China's higher forensic education, accumulated valuable experience for the construction of first-class major and first-class discipline of forensic medicine, and provided strong support for the construction of the national new forensic talent training system. The popularization of this training mode is conducive to the rapid and sustainable development of forensic science, and provides more excellent forensic talents for national building, regional social development and the discipline construction of forensic science.


Asunto(s)
Medicina Legal , Humanos , Medicina Legal/educación , Aptitud
3.
Eur J Nucl Med Mol Imaging ; 49(12): 4171-4181, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35781600

RESUMEN

PURPOSE: Thyroid hormone withdrawal (THW) inevitably induced hypothyroidism in patients with differentiated thyroid cancer (DTC), and we aimed to evaluate the safety and efficacy of a novel recombinant human thyroid-stimulating hormone (rhTSH, ZGrhTSH) as an alternative of THW in China. METHODS: Totally, 64 DTC patients were enrolled with 24 in the dose-escalation cohort equally grouped into 0.9 mg × 1 day, 0.9 mg × 2 day, 1.8 mg × 1 day, and 1.8 mg × 2 day dosage, and 40 further enrolled into 0.9 mg × 2 day dose-expansion cohort. All patients underwent both ZGrhTSH phase and levothyroxine (L-T4) withdrawal phase for self-comparison in terms of TSH levels, the radioactive iodine (RAI) uptake, stimulated thyroglobulin level, and the quality of life (QoL). RESULTS: In ZGrhTSH phase, no major serious adverse events were observed, and mild symptoms of headache were observed in 6.3%, lethargy in 4.7%, and asthenia in 3.1% of the patients, and mostly resolved spontaneously within 2 days. Concordant RAI uptake was noticed in 89.1% (57/64) of the patients between ZGrhTSH and L-T4 withdrawal phases. The concordant thyroglobulin level with a cut-off of 1 µg/L was noticed in 84.7% (50/59) of the patients without the interference of anti-thyroglobulin antibody. The QoL was far better during ZGrhTSH phase than L-T4 withdrawal phase, with lower Billewicz (- 51.30 ± 4.70 vs. - 39.10 ± 16.61, P < 0.001) and POMS (91.70 ± 16.70 vs. 100.40 ± 22.11, P = 0.011) scores which indicate the lower the better. Serum TSH level rose from basal 0.11 ± 0.12 mU/L to a peak of 122.11 ± 42.44 mU/L 24 h after the last dose of ZGrhTSH. In L-T4 withdrawal phase, a median of 23 days after L-T4 withdrawal was needed, with the mean TSH level of 82.20 ± 31.37 mU/L. The half-life for ZGrhTSH clearance was about 20 h. CONCLUSION: The ZGrhTSH held the promise to be a safe and effective modality in facilitating RAI uptake and serum thyroglobulin stimulation, with better QoL of patients with DTC compared with L-T4 withdrawal.


Asunto(s)
Adenocarcinoma , Neoplasias de la Tiroides , Tirotropina Alfa , Humanos , Radioisótopos de Yodo/efectos adversos , Calidad de Vida , Hormonas Tiroideas , Neoplasias de la Tiroides/radioterapia , Neoplasias de la Tiroides/cirugía , Tirotropina/uso terapéutico , Tirotropina Alfa/efectos adversos , Tiroxina , Tomografía Computarizada por Rayos X
4.
BMC Genomics ; 22(1): 12, 2021 Jan 06.
Artículo en Inglés | MEDLINE | ID: mdl-33407097

RESUMEN

BACKGROUND: Average daily gain (ADG) and lean meat percentage (LMP) are the main production performance indicators of pigs. Nevertheless, the genetic architecture of ADG and LMP is still elusive. Here, we conducted genome-wide association studies (GWAS) and meta-analysis for ADG and LMP in 3770 American and 2090 Canadian Duroc pigs. RESULTS: In the American Duroc pigs, one novel pleiotropic quantitative trait locus (QTL) on Sus scrofa chromosome 1 (SSC1) was identified to be associated with ADG and LMP, which spans 2.53 Mb (from 159.66 to 162.19 Mb). In the Canadian Duroc pigs, two novel QTLs on SSC1 were detected for LMP, which were situated in 3.86 Mb (from 157.99 to 161.85 Mb) and 555 kb (from 37.63 to 38.19 Mb) regions. The meta-analysis identified ten and 20 additional SNPs for ADG and LMP, respectively. Finally, four genes (PHLPP1, STC1, DYRK1B, and PIK3C2A) were detected to be associated with ADG and/or LMP. Further bioinformatics analysis showed that the candidate genes for ADG are mainly involved in bone growth and development, whereas the candidate genes for LMP mainly participated in adipose tissue and muscle tissue growth and development. CONCLUSIONS: We performed GWAS and meta-analysis for ADG and LMP based on a large sample size consisting of two Duroc pig populations. One pleiotropic QTL that shared a 2.19 Mb haplotype block from 159.66 to 161.85 Mb on SSC1 was found to affect ADG and LMP in the two Duroc pig populations. Furthermore, the combination of single-population and meta-analysis of GWAS improved the efficiency of detecting additional SNPs for the analyzed traits. Our results provide new insights into the genetic architecture of ADG and LMP traits in pigs. Moreover, some significant SNPs associated with ADG and/or LMP in this study may be useful for marker-assisted selection in pig breeding.


Asunto(s)
Estudio de Asociación del Genoma Completo , Sitios de Carácter Cuantitativo , Animales , Canadá , Carne , Fenotipo , Polimorfismo de Nucleótido Simple , Sus scrofa/genética , Porcinos/genética
5.
BMC Genomics ; 22(1): 332, 2021 May 08.
Artículo en Inglés | MEDLINE | ID: mdl-33964879

RESUMEN

BACKGROUND: In the process of pig breeding, the average daily gain (ADG), days to 100 kg (AGE), and backfat thickness (BFT) are directly related to growth rate and fatness. However, the genetic mechanisms involved are not well understood. Copy number variation (CNV), an important source of genetic diversity, can affect a variety of complex traits and diseases and has gradually been thrust into the limelight. In this study, we reported the genome-wide CNVs of Duroc pigs using SNP genotyping data from 6627 animals. We also performed a copy number variation region (CNVR)-based genome-wide association studies (GWAS) for growth and fatness traits in two Duroc populations. RESULTS: Our study identified 953 nonredundant CNVRs in U.S. and Canadian Duroc pigs, covering 246.89 Mb (~ 10.90%) of the pig autosomal genome. Of these, 802 CNVRs were in U.S. Duroc pigs with 499 CNVRs were in Canadian Duroc pigs, indicating 348 CNVRs were shared by the two populations. Experimentally, 77.8% of nine randomly selected CNVRs were validated through quantitative PCR (qPCR). We also identified 35 CNVRs with significant association with growth and fatness traits using CNVR-based GWAS. Ten of these CNVRs were associated with both ADG and AGE traits in U.S. Duroc pigs. Notably, four CNVRs showed significant associations with ADG, AGE, and BFT, indicating that these CNVRs may play a pleiotropic role in regulating pig growth and fat deposition. In Canadian Duroc pigs, nine CNVRs were significantly associated with both ADG and AGE traits. Further bioinformatic analysis identified a subset of potential candidate genes, including PDGFA, GPER1, PNPLA2 and BSCL2. CONCLUSIONS: The present study provides a necessary supplement to the CNV map of the Duroc genome through large-scale population genotyping. In addition, the CNVR-based GWAS results provide a meaningful way to elucidate the genetic mechanisms underlying complex traits. The identified CNVRs can be used as molecular markers for genetic improvement in the molecular-guided breeding of modern commercial pigs.


Asunto(s)
Variaciones en el Número de Copia de ADN , Estudio de Asociación del Genoma Completo , Animales , Canadá , Genoma , Polimorfismo de Nucleótido Simple , Sus scrofa/genética , Porcinos/genética
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(1): 44-47, 2020 Jan 10.
Artículo en Zh | MEDLINE | ID: mdl-31922595

RESUMEN

OBJECTIVE: To explore the genetic basis for a family affected with congenital heart defects. METHODS: G-banding karyotyping, chromosomal microarray analysis (CMA) and multiplex ligation-dependent probe amplification (MLPA) were carried out to detect copy number variants in a patient with left ventricular noncompaction (LVNC) and his fetus. RESULTS: G-banding karyotyping showed the patient was 45,XY,rob(15;21)(q10;q10)[36]/46,XY[64], while the fetus had an normal karyotype. CMA revealed that both had arr[hg19]8p23.1(11 232 919-11 935 465)×1. MLPA showed both had deletion of all exons of the GATA4 gene. CONCLUSION: The LVNC of the patient and the ventricular septal defect(VSD) of his fetus may result from the same 8p23.1 deletion, for which GATA4 is probably the key gene.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 8 , Cardiopatías Congénitas , Cromosomas Humanos Par 8/genética , Factor de Transcripción GATA4/genética , Pruebas Genéticas , Cardiopatías Congénitas/genética , Humanos , Cariotipificación
7.
Zhonghua Nan Ke Xue ; 26(12): 1105-1111, 2020 Dec.
Artículo en Zh | MEDLINE | ID: mdl-34898086

RESUMEN

OBJECTIVE: To investigate the clinical characteristics and pathogenic basis of a case of 46, XY disorders of sex development (DSD) and analyze the relationship of the missense mutation with the phenotype of the LHCGR gene. METHODS: We analyzed the causative gene mutation by next-generation high-throughput sequencing (HTS) and confirmed it by Sanger sequencing. We detected the effect of the mutation on the splicing function by minigene assay, evaluated its pathogenicity using the ANNOVAR mutation annotation software, and analyzed the relationship of the missense mutation and the phenotype of the LHCGR gene via literature review and data mining. RESULTS: A homozygous mutation of C.458T>C (p.Leu153Pro) was detected in the last base of exon5 of the LHCGR gene in the 46,XY DSD patient, which was a new mutation not reported previously. The mother of the patient was a heterozygous carrier of the mutation. Minigene assay indicated that c.458T>C (p.Leu153Pro) did not affect the splicing function. The mutation was shown to be pathogenic by ANNOVAR software analysis and presumed inactive, possibly affecting its binding with the ligand and leading to type-I Leydig cell hypoplasia (LCH). Literature review and data mining showed that only 19 missense mutations could cause LCH, which scattered in the LHCGR gene. CONCLUSIONS: The new mutation c.458T> C (p.Leu153Pro) of the LHCGR gene found in the 46, XY DSD patient may cause LCH by interfering with the binding function of the ligand, which has enriched the LHCGR gene mutation database and provided some reference for the studies on the LCH genotype, its phenotypic correlation and gene functions.


Asunto(s)
Trastorno del Desarrollo Sexual 46,XY , Receptores de HL , Trastorno del Desarrollo Sexual 46,XY/genética , Heterocigoto , Homocigoto , Humanos , Masculino , Mutación
8.
J Assist Reprod Genet ; 36(12): 2525-2531, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31720905

RESUMEN

PURPOSE: To establish a single-nucleotide polymorphism-based analysis (SBA) method to identify triploidy in the miscarriage tissue by using low-coverage whole-genome sequencing (LC-WGS). METHODS: The method was established by fitting a quadratic curve model by counting the distribution of three heterozygous mutation content intervals. The triploid test result was mainly determined by the opening direction and the axis of symmetry of the quadratic curve, and Z test between the same batch samples was also used for auxiliary judgment. RESULTS: Two hundred thirteen diploid samples and 8 triploid samples were used for establishment of the analytical method and 203 unknown samples were used for blind testing. In the blind testing, we found 2 cases positive for triploidy. After chromosome microarray analysis (CMA) and mass spectrometry verification, we found that both samples were true positives. We randomly selected 5 samples from the negative samples for mass spectrometry verification, and the results showed that these samples were all true negatives. CONCLUSIONS: Our method achieved accurate detection of triploidy in the miscarriage tissue and has the potential to detect more chromosomal abnormality types such as uniparental disomy (UPD) using a single LC-WGS approach.


Asunto(s)
Aborto Espontáneo/genética , Trastornos de los Cromosomas/genética , Triploidía , Secuenciación Completa del Genoma , Aborto Espontáneo/diagnóstico , Aborto Espontáneo/patología , Adulto , Aberraciones Cromosómicas , Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/patología , Femenino , Humanos , Análisis por Micromatrices , Mutación , Polimorfismo de Nucleótido Simple/genética , Embarazo
9.
Med Sci Monit ; 24: 7625-7632, 2018 Oct 25.
Artículo en Inglés | MEDLINE | ID: mdl-30359340

RESUMEN

BACKGROUND Liver cancer is the third leading cause of tumor-related deaths worldwide. Stomatin-like protein 2 (STOML2) is obviously upregulated in various tumors. In this study, we explored the potential roles and mechanisms of si-STOML2 in the migration and invasion of human hepatoma LM3 cells. MATERIAL AND METHODS The expression levels of STOML2 in tissues and cells were separately analyzed with quantitative real-time PCR (qRT-PCR) and Western blotting. The viability, migration, and invasion of cells were assessed by cell counting kit-8 (CCK-8), wound healing, and transwell analysis, respectively. The mRNA and protein levels of various factors were separately measured using qRT-PCR and Western blotting. Correlation analysis between the expression of STOML2 and the clinicopathological features of liver cancer patients was evaluated using the chi-square test. RESULTS Surprisingly, our results showed that STOML2 was upregulated in liver cancer tissue and cells, and this upregulation was linked to tumor size, histologic grade, and metastasis, but was not associated with sex, age, or TNM stage. The knockdown of STOML2 significantly repressed the viability, migration, and invasion of LM3 cells. We also observed that silencing STOML2 markedly downregulated the expression levels of matrix metalloproteinase-2 (MMP-2), MMP-9, metastatic tumor antigen 1 (MTA1), and nuclear factor kappa B (NF-κB), and upregulated levels of E-cadherin, tissue inhibitor of metalloproteinases 2 (TIMP2), and the inhibitor of kappa B (IκB). CONCLUSIONS STOML2 has a vital role in the progression of liver cancer. STOML2 silencing in LM3 cells obviously repressed the abilities of migration and invasion via suppressing the NF-κB pathway.


Asunto(s)
Proteínas Sanguíneas/metabolismo , Carcinoma Hepatocelular/metabolismo , Neoplasias Hepáticas/metabolismo , Proteínas de la Membrana/metabolismo , FN-kappa B/metabolismo , Adulto , Anciano , Proteínas Sanguíneas/genética , Cadherinas/genética , Cadherinas/metabolismo , Carcinoma Hepatocelular/genética , Carcinoma Hepatocelular/patología , Línea Celular Tumoral , Movimiento Celular/genética , Proliferación Celular/fisiología , Femenino , Histona Desacetilasas/genética , Histona Desacetilasas/metabolismo , Humanos , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/patología , Masculino , Metaloproteinasa 2 de la Matriz/genética , Metaloproteinasa 2 de la Matriz/metabolismo , Metaloproteinasa 9 de la Matriz/genética , Metaloproteinasa 9 de la Matriz/metabolismo , Proteínas de la Membrana/genética , Persona de Mediana Edad , FN-kappa B/antagonistas & inhibidores , FN-kappa B/genética , Invasividad Neoplásica , Proteínas Represoras/genética , Proteínas Represoras/metabolismo , Transducción de Señal , Inhibidor Tisular de Metaloproteinasa-2/genética , Inhibidor Tisular de Metaloproteinasa-2/metabolismo , Transactivadores , Activación Transcripcional
10.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 35(1): 18-22, 2018 Feb 10.
Artículo en Zh | MEDLINE | ID: mdl-29419853

RESUMEN

OBJECTIVE To provide prenatal diagnosis for families affected with tuberous sclerosis complex and explore the correlation between phenotype and genotype. METHODS For probands from 10 families, all exons and splicing regions of the TSC1 and TSC2 genes were analyzed with high throughput DNA sequencing. Suspected mutations were verified by Sanger sequencing. RESULTS All probands were found to have mutations, which included 1 case with TSC1 mutation and 9 cases with TSC2 mutations (missense mutations in 6, nonsense mutations in 2, and frameshifting mutation in 1 case). Prenatal diagnosis was provided for 9 cases, and 1 fetus was found to carry a mutation. Genetic analysis has identified a novel pathogenic mutation (TSC2 c.2415-2416 ins GT). CONCLUSION Identification of pathological mutations for tuberous sclerosis complex can facilitate genetic counseling and prenatal diagnosis for the affected families.


Asunto(s)
Pruebas Genéticas/métodos , Mutación , Diagnóstico Prenatal/métodos , Esclerosis Tuberosa/genética , Proteínas Supresoras de Tumor/genética , Secuencia de Bases , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Masculino , Embarazo , Esclerosis Tuberosa/diagnóstico , Proteína 1 del Complejo de la Esclerosis Tuberosa , Proteína 2 del Complejo de la Esclerosis Tuberosa
11.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 34(1): 1-5, 2017 Feb 10.
Artículo en Zh | MEDLINE | ID: mdl-28186583

RESUMEN

OBJECTIVE: To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects. METHODS: The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA). RESULTS: Nineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA. For 93 cases, CMA has detected abnormalities in 14 cases including 10 pathogenic copy number variations (CNVs) and 4 CNVs of uncertain significance (VOUS). MLPA was able to detect all of the pathogenic CNVs and 1 VOUS CNV. CONCLUSION: Combined use of G-banded karyotyping and MLPA is a rapid, low-cost and effective method to detect chromosomal abnormalities in fetuses with various heart malformations.


Asunto(s)
Aberraciones Cromosómicas , Trastornos de los Cromosomas/diagnóstico , Enfermedades Fetales/diagnóstico , Cardiopatías Congénitas/diagnóstico , Reacción en Cadena de la Polimerasa Multiplex/métodos , Diagnóstico Prenatal/métodos , Bandeo Cromosómico , Trastornos de los Cromosomas/genética , Variaciones en el Número de Copia de ADN , Femenino , Enfermedades Fetales/genética , Pruebas Genéticas/métodos , Cardiopatías Congénitas/genética , Humanos , Cariotipificación/métodos , Embarazo , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
12.
Fetal Pediatr Pathol ; 36(6): 432-436, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29206494

RESUMEN

INTRODUCTION AND AIMS: Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder caused by mutations in the androgen receptor (AR) gene. Only a few cases of AIS with AR gene mutations have been diagnosed prenatally. This study aimed to investigate the gene mutation in a Chinese complete androgen insensitivity syndrome family and perform prenatal diagnosis for twin fetuses. CASE REPORT: We evaluated the AR gene of the child proband in a Chinese CAIS family, and detected a novel mutation c.3864T>C (p. Phe917Leu). Amniocentesis was performed when the mother presented to our hospital with a subsequent twin pregnancy. Mutation analysis revealed that both fetuses were hemizygous for this mutation. The aborted fetuses had typical female external genitalia and bilateral testes in abdomen. CONCLUSION: The c.3864T>C AR novel mutation is responsible for complete androgen insensitivity syndrome, and its identification was subsequently used for a subsequent successful prenatal diagnosis.


Asunto(s)
Síndrome de Resistencia Androgénica/genética , Enfermedades en Gemelos , Mutación , Diagnóstico Prenatal , Factores de Transcripción/genética , Amniocentesis , China , Análisis Mutacional de ADN , Femenino , Hemicigoto , Humanos , Cariotipificación , Masculino , Linaje , Fenotipo , Embarazo , Embarazo Gemelar
14.
J Med Virol ; 88(8): 1334-40, 2016 08.
Artículo en Inglés | MEDLINE | ID: mdl-26792409

RESUMEN

Limited information is available on the non-influenza etiology and epidemiology of influenza-like illness (ILI) in China. From April 2011 to March 2014, we collected oropharyngeal swabs from children less than 5 years of age with symptoms of ILI who presented to the outpatient departments of Suzhou University Affiliated Children's Hospital (SCH). We used reverse transcription polymerase chain reaction (rt-PCR) or PCR to detect 11 respiratory viruses. Among 3,662 enrolled ILI patients, 1,292 (35.3%) tested positive for at least one virus. Influenza virus (16.9%) was detected most frequently (influenza A 7.4%, influenza B 9.5%), followed by respiratory syncytial virus (RSV) (5.6%), parainfluenza virus (PIV) types 1-4 (4.8%), human bocavirus (HBoV) (3.8%), human metapneumovirus (HMPV) (3.5%), and adenovirus (ADV) (3.0%). Co-infections were identified in 108 (2.9%) patients. Influenza virus predominantly circulated in January-March and June-July. The 2013-2014 winter peaks of RSV and influenza overlapped. Compared with other virus positive cases, influenza positive cases were more likely to present with febrile seizure, and RSV positive cases were more likely to present with cough and wheezing, and were most frequently diagnosed with pneumonia. These data provide a better understanding of the viral etiology of ILI among children less than 5 years of age in Suzhou, China. Influenza is not only the most frequently identified pathogen but it is also the only vaccine preventable illness among the 11 pathogens tested. Such findings suggest the potential value of exploring value of influenza vaccination among this influenza vaccination target group. J. Med. Virol. 88:1334-1340, 2016. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Coinfección/epidemiología , Gripe Humana/epidemiología , Virosis/etiología , Virosis/virología , Virus/aislamiento & purificación , Preescolar , China , Coinfección/virología , Femenino , Bocavirus Humano/genética , Bocavirus Humano/aislamiento & purificación , Bocavirus Humano/patogenicidad , Humanos , Lactante , Gripe Humana/etiología , Gripe Humana/prevención & control , Gripe Humana/virología , Masculino , Orofaringe/virología , Orthomyxoviridae/genética , Orthomyxoviridae/aislamiento & purificación , Orthomyxoviridae/patogenicidad , Pacientes Ambulatorios , Virus de la Parainfluenza 1 Humana/genética , Virus de la Parainfluenza 1 Humana/aislamiento & purificación , Virus de la Parainfluenza 1 Humana/patogenicidad , Infecciones por Parvoviridae/epidemiología , Infecciones por Parvoviridae/virología , Infecciones por Virus Sincitial Respiratorio/epidemiología , Infecciones por Virus Sincitial Respiratorio/virología , Virus Sincitial Respiratorio Humano/genética , Virus Sincitial Respiratorio Humano/aislamiento & purificación , Virus Sincitial Respiratorio Humano/patogenicidad , Infecciones por Respirovirus/epidemiología , Infecciones por Respirovirus/virología , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Virosis/epidemiología , Virosis/prevención & control , Virus/clasificación , Virus/genética , Virus/patogenicidad
15.
BMC Infect Dis ; 16: 267, 2016 06 10.
Artículo en Inglés | MEDLINE | ID: mdl-27287453

RESUMEN

BACKGROUND: The disease burden of influenza in China has not been well described, especially among young children. The aim of this study was to estimate the incidence of outpatient visits associated with influenza in young children in Suzhou, a city of more than 11 million residents in Jiangsu Province in eastern China. METHODS: Influenza-like illness (ILI) was defined as the presence of fever (axillary temperature ≥38 °C) and cough or sore throat. We collected throat swabs for children less than 5 years of age with ILI who visited Suzhou University Affiliated Children's Hospital (SCH) outpatient clinic or emergency room between April 2011 and March 2014. Suzhou CDC, a national influenza surveillance network laboratory, tested for influenza viruses by real-time reverse transcription-polymerase chain reaction assay (rRT-PCR). Influenza-associated ILI was defined as ILI with laboratory-confirmed influenza by rRT-PCR. To calculate the incidence of influenza-associated outpatient visits, we conducted community-based healthcare utilization surveys to determine the proportion of hospital catchment area residents who sought care at SCH. RESULTS: The estimated incidence of influenza-associated ILI outpatient visits among children aged <5 years in the catchment area of Suzhou was, per 100 population, 17.4 (95 % CI 11.0-25.3) during April 2011-March 2012, 14.6 (95 % CI 5.2-26.2) during April 2012-March 2013 and 21.4 (95 % CI: 10.9-33.5) during April 2013-March 2014. The age-specific outpatient visit rates of influenza-associated ILI were 4.9, 21.1 and 21.2 per 100 children aged 0- <6 months, 6- <24 months and 24- <60 months, respectively. CONCLUSION: Influenza virus infection causes a substantial burden of outpatient visits among young children in Suzhou, China. Targeted influenza prevention and control strategies for young children in Suzhou are needed to reduce influenza-associated outpatient visits in this age group.


Asunto(s)
Atención Ambulatoria/estadística & datos numéricos , Tos/epidemiología , Servicio de Urgencia en Hospital/estadística & datos numéricos , Fiebre/epidemiología , Hospitales Pediátricos , Gripe Humana/epidemiología , Servicio Ambulatorio en Hospital/estadística & datos numéricos , Faringitis/epidemiología , Niño , Preescolar , China/epidemiología , Tos/virología , Femenino , Fiebre/virología , Humanos , Incidencia , Lactante , Recién Nacido , Gripe Humana/diagnóstico , Laboratorios , Masculino , Orthomyxoviridae/genética , Aceptación de la Atención de Salud , Faringitis/virología , Reacción en Cadena en Tiempo Real de la Polimerasa , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Manejo de Especímenes
16.
Int J Food Sci Nutr ; 67(3): 274-82, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26902110

RESUMEN

Impacts of exogenous microorganisms and tea polyphenols on acid production and conversion during in vitro colonic fermentation of konjac glucomannan (KGM) were assessed in this study. Colonic fermentation of KGM by the fecal extract of healthy adults resulted in a propionate-rich profile, as acetic, propionic, butyric and lactic acids production were 16.1, 13.0, 3.3 and 20.2 mmol/L, respectively. Inoculation of one of ten exogenous microorganisms in the fermentative systems increased acetic, propionic and butyric acids production by 50-230%, 9-190% and 110-350%, respectively, and also accelerated lactic acid conversion by 14-40%. Tea polyphenols in the fermentative systems showed clear inhibition on both acid production and conversion; however, this inhibition could be partially or mostly antagonised by the inoculated exogenous microorganisms, resulting in improved acid production and conversion. In total, Lactobacillus brevis and Sterptococcus thermophilus were more able to increase acid production, and the propionate-rich profile was not changed in all cases.


Asunto(s)
Camellia sinensis/química , Mananos/química , Polifenoles/química , Ácidos/química , Ácidos/metabolismo , Adulto , Mezclas Complejas , Heces , Femenino , Fermentación , Humanos , Levilactobacillus brevis/fisiología , Masculino , Modelos Biológicos , Streptococcus thermophilus/fisiología , Adulto Joven
17.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 32(4): 490-4, 2015 Aug.
Artículo en Zh | MEDLINE | ID: mdl-26252091

RESUMEN

OBJECTIVE: To identify potential mutation of SLC22A5 gene in a 5-month-old boy affected with primary carnitine deficiency and provide genetic counseling and prenatal diagnosis for the members of his family. METHODS: DNA was extracted from peripheral blood samples derived from the proband, his parents and elder sister, as well as amniotic fluid from his pregnant mother. All of the 10 exons of the SLC22A5 gene were amplified by PCR and subjected to Sanger sequencing. The amniotic fluid sample was also subjected to G-banded karyotyping and multiplex ligation-dependent probe amplification (MLPA). RESULTS: A homozygous mutation c.760C>T (p.R254X) of the SLC22A5 gene was detected in the proband. Heterozygous mutation c.760C>T (p.R254X) was also found in other family members including the fetus. The karyotyping and chromosomal microdeletion testing for the amniotic fluid sample were both normal. CONCLUSION: The newly identified homozygous nonsense c.760C>T (p.R254X) mutation of the SLC22A5 gene probably underlies the primary carnitine deficiency of the proband. Genetic counseling and prenatal diagnosis have been provided for this family.


Asunto(s)
Cardiomiopatías/genética , Carnitina/deficiencia , Hiperamonemia/genética , Enfermedades Musculares/genética , Proteínas de Transporte de Catión Orgánico/genética , Adulto , Pueblo Asiatico/genética , Secuencia de Bases , Cardiomiopatías/embriología , Carnitina/genética , China , Exones , Femenino , Genotipo , Humanos , Hiperamonemia/embriología , Lactante , Masculino , Datos de Secuencia Molecular , Enfermedades Musculares/embriología , Linaje , Embarazo , Diagnóstico Prenatal , Miembro 5 de la Familia 22 de Transportadores de Solutos
18.
J Food Sci Technol ; 52(9): 5874-81, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26345003

RESUMEN

In the present study, influences of nine probiotics and tea polyphenols on the production of acetic, butyric, and lactic acid from simulated colonic fermentation of maize resistant starch (RS) were investigated. RS was fermented by fecal extracts of healthy adults at 12 g L(-1) and 37 °C for 18-48 h in the presence and absence of exogenous probiotics and tea polyphenols. The added probiotics increased acetic and butyric acid production by 25-216 %. Eubacterium faecalis, Lactobacillus acidophilus, L. casei, and L. helveticus increased lactic acid production by 7-58 %; however, other probiotics decreased lactic acid production. Tea polyphenols facilitated lactic acid production but inhibited acetic and butyric acid production clearly. More importantly, the added probiotics weakened the inhibitory effects of tea polyphenols on the two acids, enhancing acetic and butyric acid production by 152-641 and 825-1,777 %, respectively. It is concluded that both probiotics and tea polyphenols have different impacts on the production of acetic, butyric and lactic acid during the colonic fermentation of RS. The impacts of other probiotics and food components on the colonic fermentation of RS and other dietary fibers should be investigated in future study to clarify their possible interactions.

19.
J Acoust Soc Am ; 135(5): 2674-82, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24815251

RESUMEN

Experiments were performed to investigate the vibration and acoustic response characteristics of a clamped rectangular aluminum plate in thermal environments. Modal tests were carried out to study the influence of thermal environment on natural vibration. With the increment of structural temperature, natural frequencies of the plate decrease obviously. Mode shape interchange was observed for the modes with frequencies very close to each other. The thermally induced softening effect has unequal influences on the plate along the two in-plane directions. Numerical methods were also employed to study the experimental phenomena. Calculated results indicated that the initial deflection has a great influence on the natural vibration of the heated plate. Even a slight curvature can reduce the thermally induced softening effect obviously. Dynamic response tests were carried out under acoustic and mechanical excitations, and the measured results indicate that the variation in damping determines the response amplitudes at resonant peaks in the test.

20.
Sheng Li Xue Bao ; 66(2): 169-74, 2014 Apr 25.
Artículo en Inglés | MEDLINE | ID: mdl-24777407

RESUMEN

Sphingosine-1-phosphate (S1P) has been demonstrated to be a mediator and marker of heart diseases. We hypothesized that the expression of S1P receptors is involved in the S1P-mediated cardioprotection in vivo and may serve as a biomarker of ischemic heart disease. In vivo models of myocardial ischemia (MI) and ischemia-reperfusion (IR) were established by ligation of the left anterior descending artery (LAD) of rat heart, the mRNA expressions of S1PR1-3 were detected using real time PCR at different time intervals after ischemia (LAD for 15 min, 30 min, and 1 h) and IR. The results showed that mRNA expression of S1PR3, but not S1PR1 and S1PR2, increased greatly after IR. No statistical difference was found in any of the three S1P receptors after MI within 1 h. Regarding the studies of lipid concentration changes in myocardiopathy, we conclude that S1P receptors are not early response biomarkers for MI. There are different mechanisms when S1P plays a protection role in heart during MI and IR. The cooperation of lipid content and S1P receptor expression appears to form a regulation network during MI and IR.


Asunto(s)
Daño por Reperfusión Miocárdica/fisiopatología , Receptores de Lisoesfingolípidos/fisiología , Animales , Lisofosfolípidos/fisiología , Ratas , Esfingosina/análogos & derivados , Esfingosina/fisiología , Receptores de Esfingosina-1-Fosfato
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