A Web-Based Pharmacogenomics Search Tool for Precision Medicine in Perioperative Care.

Background: Precision medicine represents an evolving approach to improve treatment efficacy by modifying it to individual patient's gene variation. Pharmacogenetics, an applicable branch of precision medicine, identifies patient's predisposing genotypes that alter the clinical outcome of the drug, hence preventing serious adverse drug reactions. Pharmacogenetics has been extensively applied to various fields of medicine, but in the field of anesthesiology and preoperative medicine, it has been unexploited. Although the US Food and Drug Administration (FDA) has a table of pharmacogenomics biomarkers and pharmacogenetics, this table only includes general side effects of the included drugs. Thus, the existing FDA table offers limited information on genetic variations that may increase drug side effects. Aims: The purpose of this paper is to provide a web-based pharmacogenomics search tool composed of a comprehensive list of medications that have pharmacogenetic relevance to perioperative medicine that might also have application in other fields of medicine. Method: For this investigation, the FDA table of pharmacogenomics biomarkers in drug labeling was utilized as an in-depth of drugs to construct our pharmacogenetics drug table. We performed a literature search for drug-gene interactions using the unique list of drugs in the FDA table. Publications containing the drug-gene interactions were identified and reviewed. Additional drugs and extracted gene-interactions in the identified publications were added to the constructed drug table. Result: Our tool provides a comprehensive pharmacogenetic drug table including 258 drugs with a total of 461 drug-gene interactions and their corresponding gene variations that might cause modifications in drug efficacy, pharmacokinetics, pharmacodynamics and adverse reactions. This tool is freely accessible online and can be applied as a web-based search instrument for drug-gene interactions in different fields of medicine, including perioperative medicine. Conclusion: In this research, we collected drug-gene interactions in a web-based searchable tool that could be used by physicians to expand their field knowledge in pharmacogenetics and facilitate their clinical decision making. This precision medicine tool could further serve in establishing a comprehensive perioperative pharmacogenomics database that also includes different fields of medicine that could influence the outcome of perioperative medicine.

Fenocopia del síndrome de larsen asociado al uso de misoprostol: reporte de caso / Phenocopy of larsen syndrome associated with misoprostol use: a case report

Resumen: el misoprostol es un análogo de la prostaglandina E1 con diversas utilidadesterapéuticas incluyendo el tratamiento de la úlcera péptica. En el campo de la obstetricia es ampliamente utilizado para la inducción del trabajo de parto en escenarios específicos, abortos médicos e incluso emergencias obstétricas como el sangrado posparto. Su amplia distribución en el mercado farmacéutico ha llevadoa que sea usado de manera indiscriminada con fines abortivos, desconociendo su potencial teratogénico durante la gestación. En este manuscrito se presenta el caso de un recién nacido, hijo de madre de 17 años, expuesto prenatalmente a misoprostol en dosis de 1.000 mcg vía vaginal y 1.800 mcg vía oral entre las semanas cuatro y 16 de gestación, que presentaba marcadas malformaciones articulares clínicamente compatibles con el síndrome de Larsen, entidad caracterizadapor la presencia de dislocaciones de cadera, rodilla y codos, y deformidades en pie equino varo; además de hipertelorismo, frente prominente y puente nasal deprimido. Después de un estudio clínico y paraclínico se descartaron las posibles entidades genéticas y se demostró que las anomalías presentadas eran una fenocopia del síndrome de Larsen causadas por el efecto teratogénico del misoprostol.En conclusión, el misoprostol es un medicamento teratogénico contraindicado durante el embarazo, que causa un amplio espectro de anomalías congénitas que producen fenocopias de diversas entidades genéticas. Esta situación hace que el paciente expuesto requiera un abordaje y estudio adecuado para llegar a un diagnósticoetiológico correcto que lleve a la mejor conducta terapéutica, con manejo inter y multidisciplinario.

Abstract: misoprostol is an analogue of prostaglandin E1 with various therapeutic utilities, including treatment for peptic ulcer. In the obstetrics field is widely used for induction of labor in specific scenarios, medical abortions, and even obstetric emergencies, such as postpartum bleeding. Its wide distribution in the pharmaceuticalmarket has facilitated another indiscriminate uses like non-medical abortion,ignoring their teratogenic potential during gestation. In this manuscript, it present the case of a newborn, born to a mother of 17 years, who was exposed prenatally to a misoprostol dose of 1,000 μg by vaginal route and 1,800 μg per mouth, between weeks four and 16 of gestation, that showed marked articular malformations clinically compatible with Larsen syndrome. This entity is characterizedby the presence of dislocations of the hip, knee and elbows, deformitiesin equine foot Varus, in addition to hypertelorism, prominent forehead, and depressed nasal bridge. After a clinical study are discarded the possible genetic entities and it was demonstrated that the abnormalities were a imitation of Larsen syndrome caused by the teratogenic effect of misoprostol. In conclusion, misoprostolis a teratogenic drug contraindicated during pregnancy that causes a broad spectrum of congenital abnormalities that can cause imitation of several entities of genetic origin. This situation makes that exposed patient requires an appropriateapproach and clinical study to reach a correct a etiological diagnosis, leading to a better therapeutic approach with an inter and multidisciplinary management.

A comprehensive review of amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disease affecting motor neurons with an incidence of about 1/100,000. Most ALS cases are sporadic, but 5-10% of the cases are familial ALS. Both sporadic and familial ALS (FALS) are associated with degeneration of cortical and spinal motor neurons. The etiology of ALS remains unknown. However, mutations of superoxide dismutase 1 have been known as the most common cause of FALS. In this study, we provide a comprehensive review of ALS. We cover all aspects of the disease including epidemiology, comorbidities, environmental risk factor, molecular mechanism, genetic factors, symptoms, diagnostic, treatment, and even the available supplement and management of ALS. This will provide the reader with an advantage of receiving a broad range of information about the disease.

Rol de investigación del profesional de Enfermería: fortalezas y barreras / Nursing staff's role in research: strengths and barriers

Resumen:

Estudio de casos, descriptivo, enfoque cualitativo, a través del análisis del discurso de enfermeras profesionales, de áreas asistencial y docente, de servicios de salud públicos de Viña del Mar y Valparaíso, y de la Universidad de Valparaíso (Chile). Objetivo: pretende identificar la importancia que este colectivo le asigna al rol investigativo, desde su propia experiencia y rescatada en entrevistas individuales, en profundidad, realizadas entre mayo y junio de 2010; mediante un guion de temas; aportando luces respecto al problema estudiado. Resultados: los profesionales transmitieron su experiencia y cercanía con la investigación; en los discursos emergieron categorías que se orientaron hacia las fortalezas y barreras que percibían para realizar investigaciones. Con la información recabada, se realizó una reducción fenomenológica, donde se afinaron categorías y subcategorías de análisis. Triangulando la información con actores y un marco referencial. Resultados agrupados en las siguientes categorías: institucionales, formación académica de pregrado y postgrado, del colectivo profesional y personales. Discusión: se evidencia una multiplicidad de roles que juega un grupo, fundamentalmente femenino; escaso apoyo de las instituciones de salud para desempeñar este rol. Junto con ello, se apreció una falta de información, en cuanto a método y fuentes de financiamiento; débil vinculación entre enfermeras asistenciales y docentes; necesidad de contar con mayor oferta de programas de postgrado y mejorar los programas de estudio de pregrado, que releven las competencias investigativas, de manera integrada con gestión del cuidado; rol asistencial y educación para la salud y de pares. Asimismo, generar un mayor número de eventos científicos, con amplia difusión y facilidades para la publicación de trabajos presentados, para que el conocimiento generado pueda ser aplicado a la práctica profesional.