19 research outputs found

    A systematic review on the existing screening pathways for Lynch syndrome identification

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    Background: Lynch syndrome (LS) is the most common hereditary colon cancer syndrome, accounting for 3-5% of colorectal cancer (CRC) cases, and it is associated with the development of other cancers. Early detection of individuals with LS is relevant, since they can take advantage of life-saving intensive care surveillance. The debate regarding the best screening policy, however, is far from being concluded. This prompted us to conduct a systematic review of the existing screening pathways for LS. Methods: We performed a systematic search of MEDLINE, ISI Web of Science, and SCOPUS online databases for the existing screening pathways for LS. The eligibility criteria for inclusion in this review required that the studies evaluated a structured and permanent screening pathway for the identification of LS carriers. The effectiveness of the pathways was analyzed in terms of LS detection rate. Results: We identified five eligible studies. All the LS screening pathways started from CRC cases, of which three followed a universal screening approach. Concerning the laboratory procedures, the pathways used immunohistochemistry and/or microsatellite instability testing. If the responses of the tests indicated a risk for LS, the genetic counseling, performed by a geneticist or a genetic counselor, was mandatory to undergo DNA genetic testing. The overall LS detection rate ranged from 0 to 5.2%. Conclusion: This systematic review reported different existing pathways for the identification of LS patients. Although current clinical guidelines suggest to test all the CRC cases to identify LS cases, the actual implementation of pathways for LS identification has not been realized. Large-scale screening programs for LS have the potential to reduce morbidity and mortality for CRC, but coordinated efforts in educating all key stakeholders and addressing public needs are still required

    Developmental language disorder: Early predictors, age for the diagnosis, and diagnostic tools. A scoping review

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    Background. Developmental Language Disorder (DLD) is frequent in childhood and may have long-term sequelae. By employing an evidence-based approach, this scoping review aims at identifying (a) early predictors of DLD; (b) the optimal age range for the use of screening and diagnostic tools; (c) effective diagnostic tools in preschool children. Methods. We considered systematic reviews, meta-analyses, and primary observational studies with control groups on predictive, sensitivity and specificity values of screening and diagnostic tools and psycholinguistic measures for the assessment of DLD in preschool children. We identified 37 studies, consisting of 10 systematic reviews and 27 primary studies. Results. Delay in gesture production, receptive and/or expressive vocabulary, syntactic comprehension, or word combination up to 30 months emerged as early predictors of DLD, a family history of DLD appeared to be a major risk factor, and low socioeconomic status and environmental input were reported as risk factors with lower predictive power. Optimal time for screening is suggested between age 2 and 3, for diagnosis around age 4. Because of the high variability of sensitivity and specificity values, joint use of standardized and psycholinguistic measures is suggested to increase diagnostic accuracy. Conclusions. Monitoring risk situations and employing caregivers\u2019 reports, clinical assessment and multiple linguistic measures are fundamental for an early identification of DLD and timely interventions

    Effectiveness of educational intervention types to improve genomic competency in non-geneticist medical doctors: A systematic review of the literature

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    Background: Given rapid advances in genomics, continuing medical education of medical doctors (MDs) is crucial to ensure appropriate integration of human genome discoveries into healthcare and disease prevention. This work presents a systematic review of educational interventions aimed at improving genomic competency in non-geneticist MDs, with consideration of how outcomes are affected by intervention type (face-to-face learning, distance learning, decision aids, or information provision).Methods: We performed a systematic search of MEDLINE, ISI Web of Science, and SCOPUS databases for the relevant studies on educational interventions and genomic competency, published in English between January 1st, 2001 and March 31st, 2017. We evaluated the effect of education on knowledge, management and confidence related to genomics ("genomic competency"), and we compared the outcomes between different intervention types. No meta-analysis was conducted, and results were presented narratively.Results: We included sixteen studies assessing different educational interventions. The majority of studies reported significant effects on at least one component of genomic competency, in particular confidence outcomes. While many of the interventions cited positive self-reported changes in clinical application of genomic knowledge, there was no evidence of a statistically significant impact in the majority of studies that used objective measures to quantify clinical practice outcomes.Conclusion: The majority of included studies reported a positive impact of genomic education on at least one component of non-geneticist MDs' genomic competency. However, no clear conclusion can be drawn given the heterogeneity of the studies in terms of methods, intervention types, and outcome measurements. Future studies considering the effectiveness of interventions with a focus on long-term outcomes across national contexts are recommended

    Análise de seis sistemas de recolhimento do palhiço na colheita mecânica da cana-de-açúcar Analysis of six systems of trash recovery in mechanical harvesting of sugarcane

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    A biomassa da cana-de-açúcar é uma das fontes de energia renovável mais disponível no Brasil, em virtude dos seus resíduos de colheita, como palhiço (pontas e folhas); todavia, o aproveitamento do palhiço em larga escala é dificultado pelo alto custo de sua recuperação, sobretudo no que diz respeito ao recolhimento, adensamento e transporte. Com o presente trabalho, apresenta-se uma análise dos processos envolvidos na recuperação do palhiço, como densidade final do palhiço e princípios operacionais das máquinas envolvidas, juntamente com uma análise econômica, através de um modelo de cálculo de custo, por meio de simulação de rendimentos e capacidades operacionais que compõem cada sistema de recuperação do palhiço. Seis sistemas foram avaliados, técnica e economicamente. De acordo com os resultados, o sistema de colheita integral apresentou o menor custo de recuperação do palhiço para qualquer distância, seguido dos sistemas picado a granel, fardo cilíndrico, fardo algodoeiro, peletização e briquetagem.<br>Sugarcane biomass is one of the energy sources most readily available in Brazil, mainly due to residues such as trash (tops, dry and green leaves). Large scale use of these residues still faces high recovery costs related to gathering, baling, transportation, chopping and residue utilization technology. An analysis was done of the mechanical principles involved in the packing processes. A model was defined to estimate the cost of trash recovery, simulating the field capacity, oil consumption, depreciation, repair and maintenance as well as labor required for the field and transport operations. Six recovery systems were studied both from the technical and economical points of view. The results showed that handling billets and trash together, described as "Integral harvesting", has the lowest cost for trash recovery, both for short and long distances, followed by bulk handling of chopped trash, the round bale, the cotton bale and finally the pellet and briquette systems
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