RESUMO
Endometriosis is a highly prevalent disease among women of reproductive age and is frequently associated to infertility. However, the mechanisms underlying endometriosis-related infertility are still not completely known. Several studies have been conducted in order to elucidate this question. Besides anatomical changes that may impair gametes and embryo transport along the tubes; a smaller ovarian reserve due to advanced endometriosis and endometriomas; and a dysregulated hypothalamic-pituitary-ovarian axis, there are pieces of evidence suggesting that the peritoneal ectopic endometrial foci may induce a local inflammatory response, with the recruitment of macrophages, cytokine release, and reactive oxygen species generation, leading to a pro-oxidant peritoneal microenvironment. These alterations may be systemically reflected and also affect the follicular microenvironment. A harmful follicular fluid may disrupt cumulus cells functions and, consequently, compromise oocyte competence. There is also evidence suggesting that the peritoneal fluid of women with endometriosis may alter sperm function. Reduced endometrial receptivity is also pointed as a possible mechanism involved in endometriosis-related infertility, which needs further investigation.
Assuntos
Endometriose/complicações , Infertilidade Feminina/etiologia , Doenças Peritoneais/complicações , Endometriose/diagnóstico , Endometriose/patologia , Endometriose/terapia , Feminino , Fertilização in vitro , Humanos , Infertilidade Feminina/diagnóstico , Infertilidade Feminina/patologia , Infertilidade Feminina/terapia , Técnicas de Diagnóstico Molecular/métodos , Técnicas de Diagnóstico Molecular/tendências , Doenças Peritoneais/diagnóstico , Doenças Peritoneais/patologia , Doenças Peritoneais/terapia , TranscriptomaRESUMO
BACKGROUND: Point-of-care technology (POCT) provides actionable information at the site of care to allow rapid clinical decision-making. With healthcare emphasis shifting toward precision medicine, population health, and chronic disease management, the potential impact of POCT continues to grow, and several prominent POCT trends have emerged or strengthened in the last decade. CONTENT: This review summarizes current and emerging trends in POCT, including technologies approved or cleared by the Food and Drug Administration or in development. Technologies included have either impacted existing clinical diagnostics applications (e.g., continuous monitoring and targeted nucleic acid testing) or are likely to impact diagnostics delivery in the near future. The focus is limited to in vitro diagnostics applications, although in some sections, technologies beyond in vitro diagnostics are also included given the commonalities (e.g., ultrasound plug-ins for smart phones). For technologies in development (e.g., wearables, noninvasive testing, mass spectrometry and nuclear magnetic resonance, paper-based diagnostics, nanopore-based devices, and digital microfluidics), we also discuss their potential clinical applications and provide perspectives on strategies beyond technological and analytical proof of concept, with the end goal of clinical implementation and impact. SUMMARY: The field of POCT has witnessed strong growth over the past decade, as evidenced by new clinical or consumer products or research and development directions. Combined with the appropriate strategies for clinical needs assessment, validation, and implementation, these and future POCTs may significantly impact care delivery and associated outcomes and costs.
Assuntos
Tecnologia Biomédica/tendências , Tomada de Decisão Clínica/métodos , Sistemas Automatizados de Assistência Junto ao Leito/tendências , Tecnologia Biomédica/instrumentação , Humanos , Técnicas de Diagnóstico Molecular/instrumentação , Técnicas de Diagnóstico Molecular/tendências , Medicina de Precisão/instrumentação , Medicina de Precisão/tendências , Telemedicina/instrumentação , Telemedicina/tendênciasRESUMO
The rapid development of targeted therapies has tremendously changed clinical management of lung carcinoma patients and set the stage for similar developments in other tumor types. Many studies have been published in the past decade in search for the most acceptable method of assessment for predictors of response to targeted therapies in lung cancer. As a result, several guidelines for molecular testing have been published in a past couple of years. Because of accumulated evidence that targetable drugs show the best efficacy and improved progression survival rates in lung cancer patients whose tumors have a specific genotype, molecular testing for predictors of therapy response has became standard of care. Presently, testing for EGFR mutations and ALK rearrangements in lung adenocarcinoma has been standardized. The landscape of targetable genomic alterations in lung carcinoma is expanding, but none of other potentially targetable biomarkers have been standardized outside of clinical trials. This review will summarize current practice of molecular testing. Future methods in molecular testing of lung carcinoma will be briefly reviewed.
Assuntos
Adenocarcinoma/genética , Biomarcadores Tumorais/genética , Receptores ErbB/genética , Neoplasias Pulmonares/genética , Técnicas de Diagnóstico Molecular/tendências , Mutação , Medicina de Precisão/tendências , Receptores Proteína Tirosina Quinases/genética , Adenocarcinoma/tratamento farmacológico , Adenocarcinoma/enzimologia , Adenocarcinoma de Pulmão , Quinase do Linfoma Anaplásico , Animais , Antineoplásicos/uso terapêutico , Biomarcadores Tumorais/antagonistas & inibidores , Desenho de Fármacos , Receptores ErbB/antagonistas & inibidores , Previsões , Predisposição Genética para Doença , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/enzimologia , Terapia de Alvo Molecular/tendências , Seleção de Pacientes , Fenótipo , Valor Preditivo dos Testes , Inibidores de Proteínas Quinases/uso terapêutico , Receptores Proteína Tirosina Quinases/antagonistas & inibidores , Transdução de SinaisRESUMO
This is an overview of the past, present and future of human Cytogenetics in Costa Rica. It started in 1965 at the University of Costa Rica where it has been developed slowly but steadily. There is only one overloaded clinical cytogenetic laboratory in the social security system. The tests currently performed are peripheral blood and blood marrow karyotypes, prenatal cytogenetic diagnosis (amniotic fluid and fetal blood) and less frequently skin biopsies. The task now is to standardize molecular cytogenetic techniques, we are actually working with PRINS in order to study submicroscopic subtelomeric rearrangements associated with mental retardation and other microdeletion syndromes as well.
Assuntos
Humanos , Recém-Nascido , Criança , Adolescente , Adulto , História do Século XX , História do Século XXI , Citogenética/história , Citogenética/tendências , Técnicas de Diagnóstico Molecular/história , Técnicas de Diagnóstico Molecular/tendências , Citogenética/métodos , Costa Rica , Técnicas de Diagnóstico Molecular/métodosRESUMO
This is an overview of the past, present and future of human Cytogenetics in Costa Rica. It started in 1965 at the University of Costa Rica where it has been developed slowly but steadily. There is only one overloaded clinical cytogenetic laboratory in the social security system. The tests currently performed are peripheral blood and blood marrow karyotypes, prenatal cytogenetic diagnosis (amniotic fluid and fetal blood) and less frequently skin biopsies. The task now is to standardize molecular cytogenetic techniques, we are actually working with PRINS in order to study submicroscopic subtelomeric rearrangements associated with mental retardation and other microdeletion syndromes as well.
Assuntos
Citogenética/história , Citogenética/tendências , Técnicas de Diagnóstico Molecular/história , Técnicas de Diagnóstico Molecular/tendências , Adolescente , Adulto , Criança , Costa Rica , Citogenética/métodos , História do Século XX , História do Século XXI , Humanos , Recém-Nascido , Técnicas de Diagnóstico Molecular/métodosRESUMO
Cystic Fibrosis is a worldwide distributed hereditary disease. The incidence of the main (p.F508del) and other frequent mutations has been determined in a great number of countries and ethnic groups, but its incidence in most Latin American countries has remained unknown until recently. It is now beginning to be recognized as a frequent cause of infant mortality, and some countries report the incidence of their mutations. Colombia started several years ago a concerted program of molecular study of patients which were clinically diagnosed as probable cystic fibrosis. We screened the whole CFTR (ABCC7) coding sequence in 92 patients from 6 different geographic regions, using conventional PAGE analyses and DGGE followed by sequencing. Additionally, we established the frequency of the p.F508del mutation in 130 unrelated healthy controls. The results of this pilot study in Colombian patients from various ethnic admixture show six main mutations: p.F508del (41.8%), c.1811+1.6kbA>G (6.5%), p.G542X (3.8%), p.S549R (2.2%), p.W1282X (1.1%) and p.R1162X (1.1%). Thirteen other rare mutations, including three novel, were detected, accounting for a total of 63.6% known mutations. There is a great variability between the geographic regions, both in the frequency of the p.F508del mutation and non-p.F508del CF chromosomes. Our results point to a varied origin of the disease genes. These results also show that careful scrutiny of the mutations is needed in each part of Latin America in order to establish priority-screening protocols adapted to each country and region.