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1.
Front Genet ; 13: 907411, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35938018

RESUMO

Shortly after the introduction of cryo-conserved semen in the main farm animal species, gene banks were founded. Safeguarding farm animal genetic diversity for future use was and is the main objective. A sampling of sires was based on their pedigree and phenotypic information. Nowadays, DNA information from cryo-conserved sires and from animals in the living populations has become available. The combination of their DNA information can be used to realize three opportunities: 1) to make the gene bank a more complete archive of genetic diversity, 2) to determine the history of the genetic diversity from the living populations, and 3) to improve the performance and genetic diversity of living populations. These three opportunities for the use of gene bank sires in the genomic era are outlined in this study, and relevant recent literature is summarized to illustrate the great value of a gene bank as an archive of genetic diversity.

2.
Genes (Basel) ; 13(6)2022 06 17.
Artigo em Inglês | MEDLINE | ID: mdl-35741843

RESUMO

Network and systemic approaches to studying human pathologies are helping us to gain insight into the molecular mechanisms of and potential therapeutic interventions for human diseases, especially for complex diseases where large numbers of genes are involved. The complex human pathological landscape is traditionally partitioned into discrete "diseases"; however, that partition is sometimes problematic, as diseases are highly heterogeneous and can differ greatly from one patient to another. Moreover, for many pathological states, the set of symptoms (phenotypes) manifested by the patient is not enough to diagnose a particular disease. On the contrary, phenotypes, by definition, are directly observable and can be closer to the molecular basis of the pathology. These clinical phenotypes are also important for personalised medicine, as they can help stratify patients and design personalised interventions. For these reasons, network and systemic approaches to pathologies are gradually incorporating phenotypic information. This review covers the current landscape of phenotype-centred network approaches to study different aspects of human diseases.


Assuntos
Fenótipo , Humanos
3.
Sci Total Environ ; 794: 148700, 2021 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-34214810

RESUMO

Screening priority pollutants from vast anthropogenic contaminants discharged into aquatic environment is urgent for protecting water quality definitely. The multi-criteria scoring method involved in the occurrence (O), persistence (P), bioaccumulation (B), ecological risk (Eco-T), and human health risk (Hum-T), was established for pollutants prioritization in waters and applied in Dongping Lake, the final impoundment reservoir along the eastern route of China's South-to-North Water Diversion Project (SNWDP). A total of 170 chemicals including heavy metals (HMs), volatile organic chemicals (VOCs), polycyclic aromatic hydrocarbons (PAHs), organochlorine pesticides (OCPs), polychlorinated biphenyls (PCBs), phthalate esters (PAEs), and antibiotics (ANTs) were investigated as the candidates. Accordingly, 42 chemicals including 8 PAEs, 7 OCPs, 7 PCBs, 5 PAHs, 13 HMs, and 2 VOCs were made up the list of priority pollutants for Dongping Lake, suggesting the necessity of routine monitoring high priority groups and revising the existing list. Multiple risk assessment indicated higher ecological and human health risks induced by HMs than by organic pollutants. Spatial distribution of risks stressed the retention of toxic organic chemicals by the lake body and the accumulation of HMs along the transfer route, respectively, thus triggering ecosystem responses and potential effects on the water-receiving areas as expected.


Assuntos
Poluentes Ambientais , Compostos Orgânicos Voláteis , Poluentes Químicos da Água , China , Ecossistema , Monitoramento Ambiental , Humanos , Poluentes Químicos da Água/análise
4.
Arch Esp Urol ; 73(5): 336-344, 2020 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-32538802

RESUMO

INTRODUCTION: On 11th March 2020the WHO declared COVID19 a global pandemic, a challenge previously unseen for sanitary systems, including the activity in Urology departments. MATERIAL AND METHODS: Web and PubMed searchusing the keywords "SARS-CoV-2", "COVID19", "COVID Urology", "COVID surgery", "consensus methods","nominal group", "Delphi method". A narrative revision of the literature until the 20th May 2020, including articles and documents in English and Spanish.;RESULTS: Medical practice in Spain has been forced to rapidly adapt to the pandemic, dedicating most ofits material and human resources to the care of patients infected by SARS-CoV-2. This has meant a significant reduction of the routine practice in Urology, as in other medical specialities, limiting the medical attention tourgent and emergent cases. Programmed activity has been reserved for selected cases in which a delayed attention could compromise survival. Different scientific associations have made a significant effort to adapt their recommendations to the pandemic, prioritizing high-risk oncologic cases, and reducing the use of ventilators and hospital stays to the minimum. These restrictions must be dynamic, adapting to the de-escalating phases as the pandemic is more controlled, widening the range of services available. In this de-escalate there is an additional challenge, being the difficulty in generating quality scientific evidence. In order to obtain such evidence, consensus methods have been used, such as the nominal group technique or the Delphi method. CONCLUSIONS: The COVID19 pandemic has meant a complete disruption in the routine activity in Urologyin Spain, with a need for prioritizing the attention of urgent and high-risk oncologic pathology. These restrictions must be progressively modified according to the de-escalating process in the general population.


INTRODUCCIÓN: El 11 de marzo de2020 la OMS declara el estado de pandemia por COVID19, un reto sin precedentes para los sistemas sanitarios, incluyendo la actividad en el ámbito de la Urología. MATERIAL Y MÉTODOS: Búsqueda web y PubMed empleando las palabras clave "SARS-CoV-2", "COVID19","COVID Urology", "COVID surgery", "consensus methods", "nominal group", "Delphi method".Revisión narrativa de la literatura hasta el 20 de mayo 2020 incluyendo artículos y documentos escritos en españolo inglés. RESULTADOS: La actividad asistencial en España ha debido adaptarse rápidamente a la pandemia, volcandola mayoría de sus recursos materiales y humanos para atender pacientes infectados por SARS-CoV-2. Esto ha supuesto una disminución drástica de la actividad habitual en Urología, al igual que en el resto de especialidades, limitando la atención a casos urgentes y emergentes. La actividad programada ha debido restringirse a sujetos muy seleccionados en los que demorar la atención podría comprometer la supervivencia. Diferentes asociaciones científicas han realizado un esfuerzo importante para adaptar sus recomendaciones a la pandemia, priorizando patología oncológica de mayor riesgo, y reduciendo el uso de respiradores y las estancias hospitalarias al máximo. Esta restricción debe ser dinámica, adaptándose a las fases de desescalada a medida que se vaya controlandola pandemia, ampliando los servicios ofrecidos. Para esta desescalada nos enfrentamos a un reto adicional,que es la dificultad para generar evidencia científica decalidad que guíe las actuaciones de los sanitarios. Para obtener evidencia en este contexto se ha de recurrir a métodos de consenso. CONCLUSIONES: La pandemia por COVID19 ha supuesto una disrupción completa de la actividad habitual en Urología en España, debiendo priorizar la atención de patología urgente y oncológica de riesgo. Estas restricciones deben modificarse progresivamente acorde a la desescalada en la población.


Assuntos
Infecções por Coronavirus , Pandemias , Pneumonia Viral , Urologia , Betacoronavirus , COVID-19 , Infecções por Coronavirus/epidemiologia , Humanos , Pneumonia Viral/epidemiologia , SARS-CoV-2 , Espanha/epidemiologia , Urologia/tendências
5.
Data Brief ; 29: 105310, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32154347

RESUMO

The data presented in this article are complementary material to our work entitled "A decision support system for prioritization of patients on surgical waiting lists: A biopsychosocial approach". We prepared, together with physicians, a survey was used in the otorhinolaryngology unit of the Hospital of Talca for a period of five months, between February 05, 2018 and June 29, 2018. Two hundred and five surveys were collected through 20 biopsychosocial criteria, which allowed measuring the priority and vulnerability of patients on the surgical waiting list. The data allow choosing and preparing patients for surgery according to both a dynamic score and a vulnerability level.

6.
BMC Genet ; 18(1): 14, 2017 02 14.
Artigo em Inglês | MEDLINE | ID: mdl-28193154

RESUMO

Recent advances in the development of sequencing technologies provide researchers with unprecedented possibilities for genetic analyses. In this review, we will discuss the history of genetic studies and the progress driven by next-generation sequencing (NGS), using complex inflammatory bowel diseases as an example. We focus on the opportunities, but also challenges that researchers are facing when working with NGS data to unravel the genetic causes underlying diseases.


Assuntos
Exoma/genética , Genômica/métodos , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Análise de Sequência de DNA/métodos , Doença/genética , Humanos
7.
Conscientia ; 19(3): 349-360, 2015. ilus
Artigo em Português | Index Psicologia - Periódicos | ID: psi-65893

RESUMO

Este artigo é síntese dos resultados da autopesquisa, originalmente focada na superaçãoda ansiedade. Tem por objetivo compartilhar casuística e estratégias utilizadaspara promover reciclagens intraconscienciais autovivenciadas. A metodologia utilizadana pesquisa incluiu registros e anotações pessoais, pesquisa bibliográficae técnicas autoaplicadas, sendo as mais relevantes, detalhadas ao longo do texto. Aolongo do trabalho, foram experimentadas técnicas voltadas à auto-organização, identificaçãoe revisão de prioridades, que originaram insights e aprendizagens, a exemploda descoberta de gargalos evolutivos mantenedores de dificuldades anteriormente inconscientes.O processo de autoinvestigação ampliou a homeostase holossomáticae autocompreensão. A continuidade e aprofundamento na autopesquisa, intensificadaspelo autoenfrentamento, revelaram-se essenciais para as autossuperações resultantes.Na experiência da autora, o diagnóstico do trafar ansiedade pouco permite o aprofundamentode recins, sendo normalmente máscara de trafares mais difíceis de seremidentificados(AU)


This article is synthesis of self-research results, originally focused in the surpassingof anxiety. It has for objective to share casuistry and strategies used to promoteself-experienced intraconsciential recyclings. The methodology used in the researchincluded records and personal annotations, bibliographical researches and self-appliedtechniques, being the most relevant ones, detailed along the text. Along thework were tried techniques directed to self-organization, identification and revision ofpriorities that originated insights and learnings, as for example the discovery of evolutionarydifficulties maintainers of previously unconscious hindrances. The self-investigationprocess amplified the holosomatic homeostasis and self-comprehension.The continuity and deepening in self-research, intensified by self-confrontation, revealedessential for the resulting self-surpassings. In the author's experience the diagnosisof the weak trait anxiety little allows the serious study of intraphysical recycling,being weak traits masks normally more difficult of being identified(AU)


Este artículo es síntesis de los resultados de la auto-investigación, originalmenteenfocada en la superación de la ansiedad. Tiene por objetivo compartir la casuísticay las estrategias utilizadas para promover reciclajes intraconcienciales auto-vivenciados.La metodología utilizada en la investigación incluye registros y anotaciones personales,investigación bibliográfica y técnicas auto-aplicadas, siendo las más relevantes,detalladas a lo largo del texto. Asimismo, fueron experimentadas las técnicasvolcadas a la autoorganización, identificación y revisión de prioridades, que originaroninsights y aprendizajes, a ejemplo del descubrimiento de dificultades evolutivassostenedoras de otras, anteriormente inconscientes. El proceso de auto-investigaciónamplió la homeostasis holosomática y la autocomprensión. La continuidad y profundizaciónen la auto-investigación, intensificadas por el auto-enfrentamiento, se revelóesencial para las auto-superaciones resultantes. En la experiencia de la autora, el diagnósticodel trafar de la ansiedad permitió poca profundización en recines, siendo normalmenteuna máscara de trafares más difíciles de ser identificados(AU)

8.
Expert Opin Biol Ther ; 14(11): 1561-7, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25303321

RESUMO

BACKGROUND: Until 2010 the cost of biological treatments in Rheumatoid Arthritis (RA) was increasing annually by 15% in our hospital. In 1st January 2011, a Hospital Commission of Biological Therapies involving rheumatology and pharmacy services was created to improve the management of biological drugs and a biological therapy prioritization protocol in RA patients was also established to improve the efficient usage of biological drugs in RA. OBJECTIVE: To evaluate the economic impact associated with a biological therapy prioritization protocol for RA patients in the Hospital of Sagunto. METHODS: Observational, ambispective study comparing the associated cost of RA patients treated with biological drugs in the pre-protocol (2009 - 2010) versus post-protocol periods (2011 - 2012). RA patients treated with Abatacept (ABA), Adalimumab (ADA), Etanercept (ETN) or Infliximab (IFX) for at least 6 months during the study period (2009 - 2012) were included. In 2012, Tocilizumab (TCZ) was also included in the prioritization protocol. Prioritization protocol was established based on both clinical and economical aspects and supervised case by case by our Commission. Cost savings and economic impact were calculated using Spanish official prices. RESULTS: In the pre-protocol period (2009 - 2010), total expenses were increasing by €110,000, up to €1,761,000 in 2010 (€11,362 pat/year). After protocol implementation, total expenses decreased by 53,676€ on the 2010 - 2011 period, and 149,200€ on the 2011 - 2012 period. On the 2010 - 2011 period the cost of biological therapy per patient-year decreased 355€ (11,007€ pat/year) and additional 653€ (up to 10,354€ pat/year) by 2012, with a cumulative effect of the protocol implementation of 1,008€ per patient-year. In the pre-protocol period (2009), the annual cost/patient was 10.812€ with ETN, 10.942€ with IFX, 12.961€ with ADA and 12.739€ with ABA. By 1st January 2013, the annual cost per patient was 9,469€ with ETN, 10,579€ with IFX, 11,117€ with ADA, 13,540€ with ABA and 14,932€ with TCZ. CONCLUSIONS: The creation of our Commission of Biological Therapies is key to rational management of RA patients and optimization of resources, allowing us to save 200,000€ after 2-year efficiency protocol implementation.


Assuntos
Artrite Reumatoide/tratamento farmacológico , Artrite Reumatoide/economia , Terapia Biológica/economia , Prioridades em Saúde/economia , Custos Hospitalares , Abatacepte , Adalimumab , Idoso , Anticorpos Monoclonais/economia , Anticorpos Monoclonais/uso terapêutico , Anticorpos Monoclonais Humanizados/economia , Anticorpos Monoclonais Humanizados/uso terapêutico , Antirreumáticos/economia , Antirreumáticos/uso terapêutico , Artrite Reumatoide/epidemiologia , Etanercepte , Feminino , Seguimentos , Humanos , Imunoconjugados/economia , Imunoconjugados/uso terapêutico , Imunoglobulina G/economia , Imunoglobulina G/uso terapêutico , Infliximab , Masculino , Pessoa de Meia-Idade , Receptores do Fator de Necrose Tumoral/uso terapêutico , Estudos Retrospectivos , Espanha/epidemiologia
9.
Rio de Janeiro; s.n; 2013. 138 p. tab, ilus.
Tese em Espanhol | LILACS | ID: biblio-983429

RESUMO

Antecedentes: En Panamá, el establecimiento de los mecanismos de gestión para estimular actividades de investigación e innovación en las diferentes áreas del conocimiento, es reciente. Paralelamente, se realizan inversiones para la formación de capital humano y para el establecimiento de infraestructuras con el objetivo de fortalecer el sistema nacional de investigación para la salud. La necesidad de complementar este esfuerzo colocando en la mesa de discusión el tema de la optimización de la agenda de prioridades en investigación para salud, es aquí presentada. Objetivo: El objetivo principal de este estudio es analizar los esfuerzos locales para el establecimiento de las prioridades de investigación para la salud a fin de contribuir a la construcción de una política pública de investigación e innovación para la salud mediante el establecimiento de una agenda acorde con las necesidades sanitarias de la población, construida por la aplicación de un método sistemático de selección de prioridades realizado mediante un proceso legítimo y validado por el consenso de una amplia participación de actores. Métodos: El estudio analítico-descriptivo se enfoca en tres dimensiones; 1) un análisis contextual que aborda el proceso de priorización, su relación con los antecedente históricos y los componentes operativos del actual sistema nacional de investigación para la salud: rectoría, disposición de fondos, creación y manutención de recursos y la producción e utilización de los resultados de la investigación; 2) un análisis de la experiencia de nueve países latinoamericanos (Brasil, Perú, Argentina, Chile, Bolivia, Paraguay, Colombia, Guatemala y Costa Rica) que han seguido practicas sistemáticas de priorización según la estrategia de Checklist y 3) una correlación entre la evidencia local de factores que actúan como nudo crítico para el establecimiento de dichas prioridades con acciones propositivas basadas en las buenas prácticas de los países aquí analizados...


Background: In Panama, management mechanisms to stimulate research andinnovation activities in different knowledge areas have recently beenestablished. At the same time, investments have been made to build humancapital and new infrastructure aimed at reinforcing the national health researchsystem. The need to complement these efforts through further discussion onoptimizing health research priorities is presented here. Objective: The principal objective of this study is to analyze local efforts inestablishing health research priorities with the aim to formulate a public policyon research and innovation for health through the establishment of an agendaaligned with the population’s health needs, constructed through a systematicpriority setting method that uses a legitimate process and is validated by theconsensus of a wide group of actors. (...) Results: The analysis shows that despite local efforts in Panama to establish ahealth research agenda, these efforts have not followed a systematic process and such an agenda has not been incorporated into national health policies. Thecomparative analysis of the nine countries’ best practices, conducted accordingto the “Checklist” strategy, reveals factors that can improve the prioritizationprocess. The prioritizations for the current agenda were conducted by limitedgroups through closed processes without community consultation. Among thefundamental challenges of the national health research system, ambiguousleadership, a reduced critical mass of researchers and insufficient investment inresearch and innovation are highlighted. With this analysis, a proposal is madefor the next prioritization process at the national level to improve the previousdifficulties related to the prioritization process and its operation within thenational research system.


Assuntos
Humanos , Agenda de Prioridades em Saúde , Agenda de Pesquisa em Saúde , Pesquisa sobre Serviços de Saúde , Panamá
10.
Eng. sanit. ambient ; 13(2): 171-180, abr.-jun. 2008. tab
Artigo em Português | LILACS | ID: lil-486653

RESUMO

Neste artigo apresenta-se uma contribuição referente ao desenvolvimento de um modelo de hierarquização de investimentos em saneamento. Utiliza-se a técnica da programação linear, com base em um indicador de salubridade ambiental, o ISA/JP1 (Silva, 2006). O objetivo é a maximização das condições de salubridade ambiental nas comunidades a serem beneficiadas. Dessa forma, procura-se intervir na alocação dos benefícios relativos às variáveis que compõem o subindicador correspondente ao saneamento básico. O modelo foi aplicado nas comunidades periurbanas localizadas na bacia do Rio Gramame, litoral sul do estado da Paraíba. Os benefícios propostos, segundo o modelo, resultariam em mudanças significativas, atingindo até a condição salubre, conforme os valores de investimentos disponíveis.


In this article a contribution concerning the development of a hierarchization of investments in sanitation model is presented. The technique of the linear programming is used, based on an environmental health indicator, the ISA/JP1 (Silva, 2006). The aim is the maximization of the environmental health conditions in the communities to be benefited. In this way, it is attempted to interfere in the allocation of the benefits related to the sub-indicator variables corresponding to basic sanitation. The model was applied in five periurban communities of Lower Gramame River Basin, on the Southern Littoral of Paraíba State, Brazil. In this case, the proposed benefits would result in significant changes, even reaching the salubrious condition, according to values of available investments.

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