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1.
Journal of Experimental Hematology ; (6): 746-752, 2023.
Article in Chinese | WPRIM | ID: wpr-982125

ABSTRACT

OBJECTIVE@#To explore the role of a new blood-based, multiomics and multidimensional method for evaluating the efficacy of patients with lymphoma.@*METHODS@#10 ml peripheral blood was extracted from each patient, and the genomic copy number aberrations (CNA) and fragment size (FS) were evaluated by low-depth whole genome sequencing of cfDNA, and the level of a group of plasma tumor marker (PTM) were detected at the same time. The cancer efficacy score (CES) was obtained by standardized transformation of the value of above three numerical indexes, and the changes of CES before and after treatment were compared to evaluate the patient's response to the treatment regimen.@*RESULTS@#A total of 35 patients' baseline data were collected, of which 23 cases (65.7%) had elevated CES values. 18 patients underwent the first time test. The results showed that the CES value of 9 patients with positive baseline CES decreased significantly at the first test, and the efficacy evaluation was PR, which was highly consistent with the imaging evaluation results of the same period. At the same time, the CNA variation spectrum of all patients were evaluated and it was found that 23 patients had partial amplification or deletion of chromosome fragments. The most common amplification site was 8q24.21, which contains important oncogenes such as MYC. The most common deletion sites were 1p36.32, 4q21.23, 6q21, 6q27, 14q32.33, and tumor suppressor-related genes such as PRDM1, ATG5, AIM1, FOXO3 and HACE1 were expressed in the above regions, so these deletions may be related to the occurrence and development of lymphoma.@*CONCLUSION@#With the advantages of more convenience, sensitivity and non-invasive, this multiomics and multidimensional efficacy detection method can evaluate the tumor load of patients with lymphoma at the molecular level, and make more accurate efficacy evaluation, which is expected to serve the clinic better.


Subject(s)
Humans , Multiomics , Lymphoma/genetics , Cell-Free Nucleic Acids , Genomics/methods , DNA Copy Number Variations , Ubiquitin-Protein Ligases
3.
Ciênc. Saúde Colet. (Impr.) ; 24(10): 3619-3626, Oct. 2019. graf
Article in English | LILACS | ID: biblio-1039478

ABSTRACT

Abstract Diagnosis is a pivotal tool for the work of medicine as they categorise and classify individual ailments via a generalised schema. However diagnosis is also a profoundly social act, which reflects society, its values and how it makes sense of illness and disease. Considering diagnosis critically, as well as practically, is an important job of the sociologist. This paper reviews how a social model can provide a critical tool for viewing diagnosis in the genomic era. It explores how the formulation of diagnosis, be it via genetic explanations or microbiological ones, are the product of social discovery, negotiation, and consensus.


Resumo O diagnóstico é uma ferramenta essencial para o trabalho da medicina, uma vez que categoriza e classifica o padecimento do indivíduo por meio de um esquema genérico. No entanto, o diagnóstico também é um profundo ato social, o qual reflete a sociedade, seus valores e como dá sentido para o sofrimento e a doença. Considerar o diagnóstico de maneira crítica, assim como prática, é um trabalho importante dos sociólogos. Este artigo analisa como um modelo social pode fornecer uma ferramenta crítica para vermos o diagnóstico na era genômica. Explora como a formulação do diagnóstico, seja através de explicações genéticas ou microbiológicas, é o produto da descoberta social, negociação e consenso.


Subject(s)
Humans , Sociology, Medical , Diagnostic Techniques and Procedures , Genomics/methods , Diagnosis
4.
Ciênc. Saúde Colet. (Impr.) ; 24(10): 3607-3617, Oct. 2019.
Article in English | LILACS | ID: biblio-1039458

ABSTRACT

Abstract This article examines the origins of the term "genetic disease." In the late 19 and early 20th century, an earlier idea that diseases that occur in families reflect a vague familiar "predisposition" was replaced by the view that such diseases have specific causes, while Mendelian genetics provided then clues to the patterns of their transmission. The genetictisation of inborn pathologies took a decisive turn with the redefinition, in 1959, of Down syndrome as a chromosomal anomaly, then the development of tests for the diagnosis of other hereditary pathologies. At that time, geneticists distinguished "hereditary" diseases that run in families, from "genetic" conditions that are the result of new mutations during the production of egg and sperm cells. In the latter case, the inborn impairment is produced by an anomaly in the genetic material of the cell, but is not hereditary, because it is not transmitted from one or both parents. In the late 20th and early 21st century, new genomic technologies blurred the distinction between hereditary and genetic impairments, extended the concept of genetic disease, and modified the experience of people living with such a disease.


Resumo O presente artigo tem o objetivo de examinar as origens do termo "doença genética. No final do século XIX e início do XX, a vaga ideia que a doença manifesta entre familiares refletia uma "predisposição" familiar, foi substituída pela visão que essas doenças possuem causas específicas, enquanto a genética mendeliana forneceu as pistas para os padrões de transmissão da doença. A genética das patologias congênitas deu uma guinada decisiva, em 1959, com a redefinição da Síndrome de Down como uma anomalia cromossômica e, depois, com o desenvolvimento de testes para o diagnóstico de outras patologias hereditárias. Naquela época, os geneticistas distinguiam doenças "hereditárias" como aquelas que acometiam os elementos de uma família, de condições "genéticas" que são o resultado de novas mutações ocorridas durante a produção dos óvulos e espermatozoides. Neste último caso, a deficiência inata é causada por uma anomalia do material genético da célula, porque não é transmitida por qualquer um ou ambos os pais. No final do século XX e início do XXI, as novas tecnologias genômicas obscureceram a distinção entre deficiências hereditária e a genética, estenderam o conceito da doença genética e modificaram a experiência das pessoas que vivem com esse tipo de doença.


Subject(s)
Humans , History, 19th Century , History, 20th Century , History, 21st Century , Genetic Testing/methods , Genetic Predisposition to Disease/genetics , Genetic Diseases, Inborn/genetics , Genetic Testing/history , Genetic Predisposition to Disease/history , Genomics/methods , Genetic Diseases, Inborn/history
5.
Electron. j. biotechnol ; 39: 30-41, may. 2019. tab, ilus
Article in English | LILACS | ID: biblio-1051590

ABSTRACT

BACKGROUND: A total of 62,591 cowpea expressed sequence tags (ESTs) were BLAST aligned to the whole-genome sequence of barrel medic (Medicago truncatula) to develop conserved intron scanning primers (CISPs). The efficacy of the primers was tested across 10 different legumes and on different varieties of cowpea, chickpea, and pigeon pea. Genetic diversity was assessed using the same primers on different cowpea genotypes. Singlenucleotide polymorphisms (SNPs) were detected, which were later converted to length polymorphism markers for easy genotyping. CISPs developed in this study were used in tagging resistance to bacterial leaf blight disease in cowpea. RESULTS: A total of 1262 CISPs were designed. The single-copy amplification success rates using these primers on 10 different legumes and on different varieties of cowpea, chickpea, and pigeon pea were approximately 60% in most of the legumes except soybean (47%) and peanut (37%). Genetic diversity analysis of 35 cowpea genotypes using 179 CISPs revealed 123 polymorphic markers with PIC values ranging from 0.05 to 0.59. Potential SNPs identified in cowpea, chickpea, and pigeon pea were converted to PCR primers of various sizes for easy genotyping. Using the markers developed in this study, a genetic linkage map was constructed with 11 linkage groups in cowpea. QTL mapping with 194 F3 progeny families derived from the cross C-152 × V-16 resulted in the identification of three QTLs for resistance to bacterial leaf blight disease. Conclusions: CISPs were proved to be efficient markers to identify various other marker classes like SNPs through comparative genomic studies in lesser studied crops and to aid in systematic sampling of the entire genome for well-distributed markers at low cost


Subject(s)
Genome, Plant , Genomics/methods , Medicago truncatula/genetics , Polymerase Chain Reaction , Chromosome Mapping , Expressed Sequence Tags , Polymorphism, Single Nucleotide , Genomics , Quantitative Trait Loci , Fabaceae/genetics
6.
Cad. Saúde Pública (Online) ; 35(3): e00153118, 2019.
Article in Portuguese | LILACS | ID: biblio-989514

ABSTRACT

O grande desenvolvimento da pesquisa em genômica nas últimas décadas tem gerado muitas expectativas com relação ao seu impacto na biomedicina. Observa-se o crescente investimento em pesquisa na medicina personalizada ou de precisão, que busca customizar a prática médica com foco no indivíduo baseando-se na utilização de testes genéticos, identificação de biomarcadores e desenvolvimento de medicações alvo. O movimento da medicina personalizada ou de precisão, no entanto, é polêmico e tem suscitado um importante debate entre seus defensores e críticos. Este ensaio teve por objetivo discutir os pressupostos, promessas, limites e possibilidades da medicina personalizada ou de precisão com base em uma revisão da literatura recente situando o debate sobre o tema. A revisão aponta que muitas das promessas da medicina personalizada ou de precisão ainda não se concretizaram. Se por um lado houve enorme avanço no conhecimento sobre os mecanismos moleculares das patologias e o desenvolvimento de medicamentos que impactaram significativamente o tratamento de alguns tipos de câncer, até o momento não há evidências de que este padrão se reproduzirá em outras doenças complexas. A medicina personalizada ou de precisão deve gerar desenvolvimentos incrementais em áreas específicas da medicina, existindo, no entanto, vários obstáculos para sua generalização. O alto custo das novas biotecnologias pode agravar as desigualdades em saúde, tornando-se um problema para a sustentabilidade dos serviços de saúde, especialmente em países de média e baixa rendas. A ênfase na medicina personalizada ou de precisão pode levar ao deslocamento de recursos financeiros de iniciativas menos custosas e com maior impacto em saúde pública.


El gran desarrollo de la investigación en genómica en las últimas décadas ha generado muchas expectativas en relación con su impacto en la biomedicina. Se observa la creciente inversión en investigación en medicina personalizada o de precisión, que busca hacer a medida la práctica médica, centrándose en el individuo, basándose en la utilización de pruebas genéticas, identificación de biomarcadores y desarrollo de medicamentos diana. El movimiento de la medicina personalizada o de precisión, no obstante, es polémico y ha suscitado un importante debate entre sus defensores y críticos. Este ensayo tuvo como objetivo discutir los presupuestos, promesas, límites y posibilidades de la medicina personalizada o de precisión, en base a una revisión de la literatura reciente, situando el debate sobre este tema. La revisión apunta que muchas de las promesas de la medicina personalizada o de precisión todavía no se concretizaron. Si por un lado hubo un enorme avance en el conocimiento sobre los mecanismos moleculares de las patologías, y el desarrollo de medicamentos que impactaron significativamente el tratamiento de algunos tipos de cáncer, hasta el momento no hay evidencias de que este patrón se reproducirá en otras enfermedades complejas. La medicina personalizada o de precisión debe generar desarrollos incrementales en áreas específicas de la medicina, existiendo, no obstante, varios obstáculos para su generalización. El alto coste de las nuevas biotecnologías puede agravar las desigualdades en salud, convirtiéndose en un problema para la sostenibilidad de los servicios de salud, especialmente en países de media y baja renta. El énfasis en la medicina personalizada o de precisión puede llevar al desplazamiento de recursos financieros de iniciativas menos costosas y con mayor impacto en salud pública a otras de esta índole.


The enormous development of genomics research in recent decades has raised great expectations concerning its impact on biomedicine. There has been growing investment in research in personalized or precision medicine, which aims to customize medical practice with a focus on the individual, based on the use of genetic tests, identification of biomarkers, and development of targeted drugs. However, the personalized or precision medicine movement is controversial and has sparked an important debate between its defenders and critics. This essay aims to discuss the assumptions, promises, limits, and possibilities of personalized or precision medicine based on a review of the recent literature situating the debate on the theme. The review indicates that many of the promises of personalized or precision medicine remain unfulfilled. While there has been huge progress in knowledge on the molecular mechanisms of diseases and the development of drugs that have significantly impacted the treatment of some types of cancer, thus far there is no evidence that this same pattern will be reproduced in other complex diseases. Personalized or precision medicine is expected to generate incremental developments in specific areas of medicine, but there are obstacles to its generalization. The high cost of new biotechnologies can exacerbate health inequalities and become a problem for health services' sustainability, especially in low and middle-income countries. The emphasis on personalized or precision medicine may shift funds away from less costly interventions that have greater public health impact.


Subject(s)
Humans , Biomedical Technology/trends , Precision Medicine/trends , Pharmaceutical Preparations/economics , Health Equity , Biomedical Technology/economics , Genomics/economics , Genomics/methods , Precision Medicine/economics , Neoplasms/economics , Neoplasms/therapy
9.
Clinics ; 72(10): 588-594, Oct. 2017. tab, graf
Article in English | LILACS | ID: biblio-890681

ABSTRACT

OBJECTIVES: With the development of next-generation sequencing (NGS) technologies, DNA sequencing has been increasingly utilized in clinical practice. Our goal was to investigate the impact of genomic evaluation on treatment decisions for heavily pretreated patients with metastatic cancer. METHODS: We analyzed metastatic cancer patients from a single institution whose cancers had progressed after all available standard-of-care therapies and whose tumors underwent next-generation sequencing analysis. We determined the percentage of patients who received any therapy directed by the test, and its efficacy. RESULTS: From July 2013 to December 2015, 185 consecutive patients were tested using a commercially available next-generation sequencing-based test, and 157 patients were eligible. Sixty-six patients (42.0%) were female, and 91 (58.0%) were male. The mean age at diagnosis was 52.2 years, and the mean number of pre-test lines of systemic treatment was 2.7. One hundred and seventy-seven patients (95.6%) had at least one identified gene alteration. Twenty-four patients (15.2%) underwent systemic treatment directed by the test result. Of these, one patient had a complete response, four (16.7%) had partial responses, two (8.3%) had stable disease, and 17 (70.8%) had disease progression as the best result. The median progression-free survival time with matched therapy was 1.6 months, and the median overall survival was 10 months. CONCLUSION: We identified a high prevalence of gene alterations using an next-generation sequencing test. Although some benefit was associated with the matched therapy, most of the patients had disease progression as the best response, indicating the limited biological potential and unclear clinical relevance of this practice.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Young Adult , Genomics/methods , Neoplasms/drug therapy , Neoplasms/genetics , Sequence Analysis, DNA/methods , Disease Progression , Disease-Free Survival , Genomics/trends , Kaplan-Meier Estimate , Molecular Targeted Therapy/methods , Neoplasm Metastasis , Neoplasms/mortality , Neoplasms/pathology , Precision Medicine/methods , Receptor, ErbB-2/antagonists & inhibitors , Reproducibility of Results , Sequence Analysis, DNA/trends , Time Factors , Treatment Outcome
10.
Bol. méd. Hosp. Infant. Méx ; 74(3): 219-226, May.-Jun. 2017. graf
Article in English | LILACS | ID: biblio-888619

ABSTRACT

Abstract: In recent years, the use of high-throughput omics technologies has led to the rapid discovery of many candidate biomarkers. However, few of them have made the transition to the clinic. In this review, the promise of omics technologies to contribute to the process of biomarker development is described. An overview of the current state in this area is presented with examples of genomics, proteomics, transcriptomics, metabolomics and microbiomics biomarkers in the field of oncology, along with some proposed strategies to accelerate their validation and translation to improve the care of patients with neoplasms. The inherent complexity underlying neoplasms combined with the requirement of developing well-designed biomarker discovery processes based on omics technologies present a challenge for the effective development of biomarkers that may be useful in guiding therapies, addressing disease risks, and predicting clinical outcomes.


Resumen: En los últimos años, el uso de las tecnologías ómicas de alta densidad de datos ha permitido el rápido descubrimiento de posibles biomarcadores. Sin embargo, esto no ha tenido un impacto notable en la clínica ya que se han implementado muy pocos de esos biomarcadores. En el presente documento se describe el potencial de las tecnologías ómicas en el desarrollo de nuevos biomarcadores. Con el objetivo de dar a conocer un panorama general de la situación actual, se comentan algunos ejemplos ilustrativos de biomarcadores genómicos, transcriptómicos, proteómicos, metabolómicos y microbiómicos en el campo de la investigación en oncología. Asimismo, se señalan algunas de las recomendaciones que se han propuesto para acelerar su validación e implementación, y se comenta sobre cómo la complejidad inherente a las enfermedades se combina con la complejidad de las tecnologías ómicas, de tal modo que el desarrollo de biomarcadores predictivos, pronósticos y diagnósticos eficientes plantea retos importantes.


Subject(s)
Animals , Humans , Biomarkers, Tumor/metabolism , High-Throughput Screening Assays/methods , Neoplasms/pathology , Genomics/methods , Proteomics/methods , Metabolomics/methods , Microbiota
11.
Braz. j. microbiol ; 48(1): 9-10, Jan.-Mar. 2017.
Article in English | LILACS | ID: biblio-839335

ABSTRACT

Abstract Bradyrhizobium embrapense CNPSo 2833T is a nitrogen-fixing symbiont of the legume pasture Desmodium. Its draft genome contains 8,267,832 bp and 7876 CDSs. The symbiotic island includes nodulation and nitrogen fixation genes resembling the operon organization of B. japonicum. Several CDSs related to secretion proteins and stress tolerance were also identified.


Subject(s)
Genome, Bacterial , Bradyrhizobium/genetics , Genomics , Root Nodules, Plant/microbiology , Fabaceae/microbiology , Symbiosis , Sequence Analysis, DNA , Computational Biology/methods , Bradyrhizobium/isolation & purification , Bradyrhizobium/metabolism , Genomics/methods , High-Throughput Nucleotide Sequencing , Molecular Sequence Annotation
12.
Braz. j. microbiol ; 48(1): 7-8, Jan.-Mar. 2017. tab
Article in English | LILACS | ID: biblio-839336

ABSTRACT

Abstract Geobacillus thermodenitrificans DSM 101594 was isolated as a producer of extracellular thermostable pectic polysaccharide degrading enzymes. The completely sequenced genome was 3.6 Mb in length with GC content of 48.86%. A number of genes encoding enzymatic active against the high molecular weight polysaccharides of potential biotechnological importance were identified in the genome.


Subject(s)
Genome, Bacterial , Genomics , Geobacillus/genetics , High-Throughput Nucleotide Sequencing , Pectins/metabolism , Computational Biology/methods , Genomics/methods , Geobacillus/metabolism , Molecular Sequence Annotation
13.
Braz. j. microbiol ; 48(1): 11-12, Jan.-Mar. 2017.
Article in English | LILACS | ID: biblio-839337

ABSTRACT

Abstract The draft genome of Pectobacterium carotovorum subsp. brasiliense (Pcb) which causes blackleg of potato was submitted to the NCBI and released with reference number NZ_LGRF00000000.1. The estimated genome size based on the draft genome assembly is 4,820,279 bp from 33 contigs ranging in length from 444 to 1,660,019 nucleotides. The genome annotation showed 4250 putative genes, 4114 CDS and 43 pseudo-genes. Three complete rRNA gene species were detected: nine 5S, one 16S and one 23S. Other partial rRNA gene fragments were also identified, nine 16S rRNA and three 23S rRNA. A total of 69 tRNA genes and one ncRNA gene were also annotated in this genome.


Subject(s)
Genome, Bacterial , Pectobacterium carotovorum/genetics , Genomics , Sequence Analysis, DNA , Computational Biology/methods , Genomics/methods , High-Throughput Nucleotide Sequencing , Molecular Sequence Annotation
14.
Braz. j. microbiol ; 48(1): 5-6, Jan.-Mar. 2017.
Article in English | LILACS | ID: biblio-839345

ABSTRACT

Abstract Prevotella intermedia has long been known to be as the principal etiologic agent of periodontal diseases and associated with various systemic diseases. Previous studies showed that the intra-species difference exists in capacity of biofilm formation, antibiotic resistance, and serological reaction among P. intermedia strains. Here we report the genome sequence of P. intermedia SUNY aB G8-9K-3 (designated ATCC49046) that displays a relatively high antimicrobial resistant and biofilm-forming capacity. Genome sequencing information provides important clues in understanding the genetic bases of phenotypic differences among P. intermedia strains.


Subject(s)
Genome, Bacterial , Prevotella intermedia/drug effects , Prevotella intermedia/physiology , Biofilms , Drug Resistance, Bacterial , High-Throughput Nucleotide Sequencing , Anti-Bacterial Agents/pharmacology , Sequence Analysis, DNA , Computational Biology/methods , Polymorphism, Single Nucleotide , Genomics/methods , Molecular Sequence Annotation
15.
Braz. j. microbiol ; 48(1): 3-4, Jan.-Mar. 2017.
Article in English | LILACS | ID: biblio-839346

ABSTRACT

Abstract Thermococcus thioreducens DSM 14981T, a sulfur-reducing archaeon, was isolated from the rainbow hydrothermal vent site on the Mid-Atlantic Ridge. Herein, we report the draft genome sequence of T. thioreducens DSM 14981T; we obtained 41 contigs with a genome size of 2,052,483 bp and G + C content of 53.5%. This genome sequence will not only help understand how the archaeon adapts to the deep-sea hydrothermal environment but also aid the development of enzymes that are highly stable under extreme conditions for industrial applications.


Subject(s)
Sulfur/metabolism , Thermococcus/genetics , Thermococcus/metabolism , Genome, Archaeal , Genomics , High-Throughput Nucleotide Sequencing , Sequence Analysis, DNA , Computational Biology/methods , Genomics/methods , Molecular Sequence Annotation
16.
Braz. j. microbiol ; 48(1): 1-2, Jan.-Mar. 2017.
Article in English | LILACS | ID: biblio-839362

ABSTRACT

Abstract Pediococcus acidilactici strain K3 is an alcohol-tolerant lactic acid bacterium isolated from nuruk, which is a traditional Korean fermentation starter for makgeolli brewing. Draft genome of this strain was approximately 1,991,399 bp (G+C content, 42.1%) with 1525 protein-coding sequences (CDS), of which 44% were assigned to recognized functional genes. This draft genome sequence data of the strain K3 will provide insights into the genetic basis of its alcohol-tolerance.


Subject(s)
Adaptation, Biological/drug effects , Adaptation, Biological/genetics , Genome, Bacterial , Ethanol/pharmacology , Pediococcus acidilactici/drug effects , Pediococcus acidilactici/genetics , Lactic Acid/biosynthesis , Computational Biology/methods , Genomics/methods , Ethanol/metabolism , Fermentation , High-Throughput Nucleotide Sequencing , Molecular Sequence Annotation , Pediococcus acidilactici/isolation & purification , Pediococcus acidilactici/metabolism
17.
Bol. méd. Hosp. Infant. Méx ; 74(1): 13-26, ene.-feb. 2017. tab, graf
Article in Spanish | LILACS | ID: biblio-888592

ABSTRACT

Resumen: En paralelo al proyecto de la secuenciación del genoma humano, se han desarrollado varias plataformas tecnológicas que están permitiendo ganar conocimiento sobre la estructura del genoma de las entidades humanas, así como evaluar su utilidad en el abordaje clínico del paciente. En la leucemia linfoblástica aguda (LLA), el cáncer infantil más común, las herramientas genómicas prometen ser útiles para detectar a los pacientes con alto riesgo de recaída, ya sea al diagnóstico o durante el tratamiento (enfermedad mínima residual), además de que permiten identificar los casos en riesgo de presentar reacciones adversas a los tratamientos antineoplásicos y ofrecer una medicina personalizada con esquemas terapéuticos diseñados a la medida del paciente. Un ejemplo claro de esto último es la identificación de polimorfismos de un solo nucleótido (SNPs) en el gen de la tiopurina metil transferasa (TPMT), donde la presencia de dos alelos nulos (homocigotos o heterocigotos compuestos) indica la necesidad de reducir la dosis de la mercaptopurina hasta en un 90% para evitar efectos tóxicos que pueden conducir a la muerte del paciente. En esta revisión se proporciona una visión global de la genómica de la LLA, describiendo algunas estrategias que contribuyen a la identificación de biomarcadores con potencial utilidad en la práctica clínica.


Abstract: In parallel to the human genome sequencing project, several technological platforms have been developed that let us gain insight into the genome structure of human entities, as well as evaluate their usefulness in the clinical approach of the patient. Thus, in acute lymphoblastic leukemia (ALL), the most common pediatric malignancy, genomic tools promise to be useful to detect patients at high risk of relapse, either at diagnosis or during treatment (minimal residual disease), and they also increase the possibility to identify cases at risk of adverse reactions to chemotherapy. Therefore, the physician could offer patient-tailored therapeutic schemes. A clear example of the useful genomic tools is the identification of single nucleotide polymorphisms (SNPs) in the thiopurine methyl transferase (TPMT) gene, where the presence of two null alleles (homozygous or compound heterozygous) indicates the need to reduce the dose of mercaptopurine by up to 90% to avoid toxic effects which could lead to the death of the patient. In this review, we provide an overview of the genomic perspective of ALL, describing some strategies that contribute to the identification of biomarkers with potential clinical application.


Subject(s)
Child , Humans , Genomics/methods , Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics , Antimetabolites, Antineoplastic/administration & dosage , Recurrence , Biomarkers, Tumor/metabolism , Neoplasm, Residual/genetics , Polymorphism, Single Nucleotide , Precursor Cell Lymphoblastic Leukemia-Lymphoma/pathology , Precursor Cell Lymphoblastic Leukemia-Lymphoma/drug therapy , Mercaptopurine/administration & dosage , Mercaptopurine/adverse effects , Methyltransferases/genetics , Antimetabolites, Antineoplastic/adverse effects
18.
Rev. Hosp. Ital. B. Aires (2004) ; 36(4): 160-164, dic. 2016. ilus, graf
Article in Spanish | LILACS | ID: biblio-1145367

ABSTRACT

El amplio acceso a computadoras de alto desempeño y dispositivos electrónicos de gran almacenamiento, entre otros, ha permitido en los últimos años la generación de cantidades masivas de datos, concepto que puede ser representado por Velocidad, Volumen y Variabilidad. La Minería de Datos es un proceso que permite descubrir patrones o asociaciones relevantes, no plenamente descubiertas en principio con los métodos tradicionales de análisis, en grandes bases de datos y generar modelos. Para ello, usa herramientas de áreas tales como Sistemas de Bases de Datos, Almacenamiento, Aprendizaje Automático, Estadística, Visualización de la Información y Computación de Alto Desempeño. En las últimas décadas, la biología molecular ha pasado del análisis de genes individuales a estudios más complejos que abarcan el genoma completo de un individuo. El desarrollo de tecnologías genómicas de alto desempeño, como los microarrays y la secuenciación de próxima generación (NGS), ha hecho posible producir de manera exponencial información, con la expansión de nuestro conocimiento de las bases genéticas de varias enfermedades. En la Medicina Genómica, el uso de la Minería de Datos para el análisis de la información genómica se está convirtiendo en una necesidad cada vez más buscada, contribuyendo así hacia una medicina personalizada tal que permite inferir modelos clínicamente relevantes y definir estrategias terapéuticas individualizadas a partir de datos moleculares de pacientes. (AU)


The availability of use of high-performance computers and large-storage electronic devices, among others, has allowed the generation of a huge masses of digital data, an idea that can be represented by velocity, volume and variety. Data mining is a process that permits to discover relevant patterns or relations, not previously seen with traditional methods of analysis, in large databases and generate models. It uses tools from Database Systems, Data Warehouse, Machine Learning, Statistics, Information Visualization and High-Performance Computing. In the last decades, molecular biology has moved from individual gene analysis to more complex studies that involve the complete genome. The development of high-throughput genomic technologies, such as microarrays and next-generation sequencing, has promoted the exponential growth of a huge amount of information, expanding our knowledge on the genetic basis of various diseases. In genomics medicine, the application of data mining techniques has become an increasingly important process that contributes towards a personalized medicine, that involves the inference of clinically relevant models and defines individualized therapeutic strategies based on the molecular data of patients. (AU)


Subject(s)
Humans , Genomics/methods , Data Mining , Autistic Disorder/genetics , Computers, Mainframe , Information Management , Machine Learning , Data Warehousing , Data Analysis
19.
Braz. j. microbiol ; 47(3): 529-530, July-Sept. 2016. tab
Article in English | LILACS | ID: lil-788969

ABSTRACT

ABSTRACT Pseudomonas syringae pv. actinidifoliorum causes necrotic spots on the leaves of Actinidia deliciosa and Actinidia chinensis. P. syringae pv. actinidifoliorum has been detected in New Zealand, Australia, France and Spain. Four lineages were previously identified within the P. syringae pv. actinidifoliorum species group. Here, we report the draft genome sequences of five strains of P. syringae pv. actinidifoliorum representative of lineages 1, 2 and 4, isolated in France. The whole genomes of strains isolated in New Zealand, representative of P. syringae pv. actinidifoliorum lineages 1 and 3, were previously sequenced. The availability of supplementary P. syringae pv. actinidifoliorum genome sequences will be useful for developing molecular tools for pathogen detection and for performing comparative genomic analyses to study the relationship between P. syringae pv. actinidifoliorum and other kiwifruit pathogens, such as P. syringae pv. actinidiae.


Subject(s)
Genome, Viral , Sequence Analysis, DNA , Pseudomonas syringae/classification , Pseudomonas syringae/genetics , Plant Diseases/microbiology , Genomics/methods , Pseudomonas syringae/isolation & purification , High-Throughput Nucleotide Sequencing
20.
Belo Horizonte; s.n; 2016. 96 p.
Thesis in Portuguese | LILACS, ColecionaSUS | ID: biblio-942598

ABSTRACT

O crescente surgimento de resistência bacteriana aos antibióticos convencionais é um grave problema que precisa ser enfrentado, seja pela descoberta de novas substâncias antimicrobianas, naturais ou sintéticas, ou através da pesquisa de terapias alternativas que sejam economicamente acessíveis. A terapia de fagos é uma dessas alternativas. Trata-se de uma forma de controle biológico, baseado em vírus específicos que infectam e destroem células bacterianas: os bacteriófagos. No entanto, esta é uma fonte terapêutica ainda pouco explorada. Esse trabalho utilizou o cultivo, isolamento e sequenciamento do genoma, além de técnicas de genômica de alto desempenho para isolar e caracterizar o genoma de bacteriófagos específicos para a linhagem enteroinvasiva de Escherichia coliATCC 43893, visando o entendimento e a definição do ciclo de infecção desses vírus (líticos ou lisogênicos).


A metodologia utilizada nessa pesquisa possibilitou o isolamento de 12 vírus. 8 diferentes linhagens virais tiveram seu material genético extraído e purificado, apresentando bom rendimento e quantidade reduzida de DNA bacteriano contaminante. O sequenciamento do genoma desses 8 vírus foi realizado usando a plataforma de nova geração MiSeq. Foi analisada a diversidade genética desses bacteriófagos e verificou-se que são vírus da ordem Caudovirales, sendo 2 da família Siphoviridae e 6 da família Myoviridae. Apenas um deles mostrou potencial de ter ciclo lisogênico, os outros sete vírus não continham nenhum gene que sugerisse isso. Entretanto, apesar dos bacteriófagos isolados não terem apresentado genes relacionados ao ciclo lisogênico, análises mais aprofundadas devem ser realizadas para comprovar que são realmente exclusivamente líticos, já que muitos não apresentam seu genoma completo e mais de 50% dos genes anotados não têm função definida


Subject(s)
Male , Female , Humans , Bacteriophages/isolation & purification , Diarrhea/therapy , Escherichia coli/genetics , Genomics/methods
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