RESUMO
The finalization of the Human Genome Project in 2003 paved the way for a deeper understanding of cancer, favouring a faster progression towards "personalized" medicine. Research in oncology has progressively focused on the sequencing of cancer genomes, to better understand the genetic basis of tumorigenesis and identify actionable alterations to guide cancer therapy. Thanks to the development of next-generation-sequencing (NGS) techniques, sequencing of tumoral DNA is today technically easier, faster and cheaper. Commercially available NGS panels enable the detection of single or global genomic alterations, namely gene mutation and mutagenic burden, both on germline and somatic DNA, potentially predicting the response or resistance to cancer treatments. Profiling of tumor DNA is nowadays a standard in cancer research and treatment. In this review we discuss the history, techniques and applications of NGS in cancer care, under a "personalized tailored therapy" perspective.
Assuntos
Interpretação Estatística de Dados , Genômica , Sequenciamento de Nucleotídeos em Larga Escala , Neoplasias/genética , Neoplasias/terapia , Medicina de Precisão , Testes Diagnósticos de Rotina/história , Testes Diagnósticos de Rotina/métodos , Testes Diagnósticos de Rotina/estatística & dados numéricos , Progressão da Doença , Genômica/história , Genômica/métodos , Genômica/normas , Sequenciamento de Nucleotídeos em Larga Escala/história , Sequenciamento de Nucleotídeos em Larga Escala/normas , Sequenciamento de Nucleotídeos em Larga Escala/estatística & dados numéricos , História do Século XX , História do Século XXI , Humanos , Mutação , Neoplasias/diagnóstico , Medicina de Precisão/história , Medicina de Precisão/métodos , Medicina de Precisão/normas , Projetos de Pesquisa/normasRESUMO
HIV diagnostics have played a central role in the remarkable progress in identifying, staging, initiating, and monitoring infected individuals on life-saving antiretroviral therapy. They are also useful in surveillance and outbreak responses, allowing for assessment of disease burden and identification of vulnerable populations and transmission "hot spots," thus enabling planning, appropriate interventions, and allocation of appropriate funding. HIV diagnostics are critical in achieving epidemic control and require a hybrid of conventional laboratory-based diagnostic tests and new technologies, including point-of-care (POC) testing, to expand coverage, increase access, and positively impact patient management. In this review, we provide (i) a historical perspective on the evolution of HIV diagnostics (serologic and molecular) and their interplay with WHO normative guidelines, (ii) a description of the role of conventional and POC testing within the tiered laboratory diagnostic network, (iii) information on the evaluations and selection of appropriate diagnostics, (iv) a description of the quality management systems needed to ensure reliability of testing, and (v) strategies to increase access while reducing the time to return results to patients. Maintaining the central role of HIV diagnostics in programs requires periodic monitoring and optimization with quality assurance in order to inform adjustments or alignment to achieve epidemic control.
Assuntos
Testes Diagnósticos de Rotina , Infecções por HIV/diagnóstico , Testes Diagnósticos de Rotina/história , Testes Diagnósticos de Rotina/tendências , HIV , Infecções por HIV/prevenção & controle , História do Século XX , História do Século XXI , HumanosRESUMO
The field of Primary Immune Deficiency Disorders (PIDD) has advanced rapidly over the past several years with over 200 different gene mutations defined. With the recent institution of newborn screening for T cell deficiencies in many states and earlier recognition of the signs and symptoms of patients with immune deficiency, it is now apparent that PIDD is not as "rare" as was originally thought several decades ago. With the earlier recognition of patients with recurrent infections and various immune perturbations, advancements in the treatment of these immune deficiency disorders have led to enhanced survival and quality of life. In this issue, the diagnosis of PIDD through laboratory testing and skin manifestations is reviewed. The more recently described cellular immune deficiencies, selective immune deficiencies, and advances in the use of bone marrow transplantation in the correction of some of these immune deficiencies are discussed.
Assuntos
Transplante de Medula Óssea , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/terapia , Animais , Testes Diagnósticos de Rotina/história , Testes Genéticos/história , História do Século XX , História do Século XXI , Humanos , Recém-NascidoRESUMO
O presente estudo visa fazer uma revisao sobre a velocidade de sedimentacao dos eritrocitos e sua aplicabilidade nos dias de hoje. Ela e usada, desde a antiguidade, como um marcador inespecifico da presenca de inflamacao ou doenca oculta. O metodo mais utilizado para avalia-la e o Westerngreen, cujos limites normais sao 15 mm/h para homens e 20 mm/h para mulheres (em pessoas com menos de 50 anos). As infeccoes sao a principal causa de elevacao da VSG, principalmente se forem bacterianas. Em neoplasias, quando exceder 100 mm/h, geralmente ha metastases presentes. E util tambem em algumas doencas reumatologicas, onde auxilia no diagnostico e monitorizacao da atividade da doenca e resposta ao tratamento. Traz pouca contribuicao em pessoas assintomaticas ou com sintomas vagos. Entretanto, pessoas com sintomas especificos que apresentem uma elevaca oda VSG devem ser investigadas em busca de alguma patologia