170 research outputs found
Resident Perceptions of Sustainable Tourism in Maine
Tourism has long played a central role in the economy, culture, and livelihoods of the people of the State of Maine. The long-term sustainability of this industry in the state is crucial for the current and future prosperity of both businesses and residents. Sustainable tourism has emerged as a key concept over the past few decades and its tenets have clear applicability within the state. Research on residents’ perceptions of tourism impacts and development suggest these assessments to be highly important if a community’s tourism industry is to be successful and sustainable in the long term. This study used the SUS-TAS scale
Understanding the Perceived Effectiveness of Applying the Visitor Experience and Resource Protection (VERP) Framework for Recreation Planning: A Multi-Case Study in U.S. National Parks
The Visitor Experience and Resource Protection (VERP) framework is a planning framework developed by the U.S. National Park Service (NPS) to help guide visitor use planning and decision-making in U.S. national parks. The research reported here highlights the perceptions of park practitioners about major successes and challenges associated with visitor management and recreation planning using the VERP framework. We used a qualitative multiple case study design to explore three (3) national parks that have applied the framework. We conducted 16 semi-structured interviews with park managers, park planners, and recreation scientists, and used thematic coding to categorize the data to capture relevant themes. Our results show that lack of training and leadership in the social dimensions of resource management has limited the successful application of VERP. On the other hand, closely following framework procedures and maintaining quality partnerships with entities both within the agency and outside to facilitate planning efforts, has helped visitor management approaches achieve desired outcomes. This research contributes to the ongoing work of visitor use specialists by using lessons learned and applying them to future planning. It provides tangible outcomes to park managers by providing examples of VERP application to base decisions
The Black River: a comprehensive study of physical and chemical characteristics and their potential management implications.
An analysis of the Black River's biological and physicochemical characteristics was conducted for comparison to the model proposed by the river continuum theory. The theory specifies that the biological fauna, physical characteristics and chemical composition observed, are reflected in river order changes in terms of the presence, absence, or density of producer and consumer communities. The study reflected consistencies between the model and observed physical parameters and chemical attributes, but biological indicators were less corroborating. Physical characteristics such as temperature, depth, width, velocity, discharge, and suspended sediments increased with river mile and trends in the data became apparent. Chemical factors such as nitrates, dissolved oxygen, pH, alkalinity, and hardness, though not as clearly conclusive, show a gradient associated with river order transition. Biological indicators were not as conclusive in supporting the river continuum theory since there was no representation of shredders in the headwaters and predatory species were found at most sites. Management issues of the Black River address the control of soil erosion, species composition, and sedimentation as well as maintaining water temperature.http://deepblue.lib.umich.edu/bitstream/2027.42/54342/1/2778.pd
Ecological, social and biological risk factors for continued Trypanosoma cruzi transmission by Triatoma dimidiata in Guatemala
House infestation risk factors for Chagas disease are dog density, mouse presence, interior wall plaster condition, dirt floor, tile roofing and coffee tree presence. The transmission cycle includes mammalian reservoirs of the parasite and triatomine species, such as Triatoma dimidiata and Triatoma infestans, which colonize domestic and peridomestic environments. Traditional house construction styles have been considered risk factors for the presence of triatomines by vector control personnel. Persistent house infestation is related to eco-bio-social factors associated with dogs, chickens and rodents. Integrated disease control should include the role of animals in the transmission process, and community members’ knowledge, attitudes and practices
Germline cdh1 g212e missense variant: Combining clinical, in vitro and in vivo strategies to unravel disease Burden
E-cadherin, encoded by CDH1, is an essential molecule for epithelial homeostasis, whose loss or aberrant expression results in disturbed cell–cell adhesion, increased cell invasion and metas-tasis. Carriers of CDH1 germline mutations have a high risk of developing diffuse gastric cancer and lobular breast cancer, associated with the cancer syndrome Hereditary Diffuse Gastric Cancer (HDGC). The ubiquitous availability of cancer panels has led to the identification of an increasing amount of “incidental” CDH1 genetic variants that pose a serious clinical challenge. This has sparked intensive research aiming at an accurate classification of the variants and consequent validation of their clinical relevance. The present study addressed the significance of a novel CDH1 variant, G212E, identified in an unusually large pedigree displaying strong aggregation of diffuse gastric cancer. We undertook a comprehensive pipeline encompassing family data, in silico predictions, in vitro assays and in vivo strategies, which validated the deleterious phenotype induced by this genetic alteration. In particular, we demonstrated that the G212E variant affects the stability and localization, as well as the adhesive and anti-invasive functions of E-cadherin, triggering epithelial disruption and disorganization. Our findings illustrate the clinical implication of a complementary approach for effective variant categorization and patient management.This work was financed by FEDER funds through the Operational Programme for Competitiveness Factors (COMPETE 2020), Programa Operacional de Competitividade e Inter-nacionalização (POCI) and Programa Operacional Regional do Norte (Norte 2020); and by National Funds through the Portuguese Foundation for Science and Technology (FCT) in the frame-work of the projects PTDC/MED-GEN/30356/2017, PTDC/BTM-SAL/30383/2017, PTDC/BIM-ONC/0281/2014, NORTE-01-0145-FEDER-000029, as well as doctoral grants SFRH/BD/108009/2015-S.M. and SFRH/BD/130708/2017-M.G. E.M.S. is funded by the “FCT Scientific Employment Stimulus—Individual Call” program (CEECIND/00622/2017). We acknowledge the American Association of Patients with Hereditary Gastric Cancer “No Stomach for Cancer” for funding Seruca’s and Figueiredo’s research
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas
Background: Mutations in the POT1 gene explain abnormally long telomeres and multiple tumors including cardiac angiosarcomas (CAS). However, the link between long telomeres and tumorigenesis is poorly understood. Methods and Results: Here, we have studied the somatic landscape of 3 different angiosarcoma patients with mutations in the POT1 gene to further investigate this tumorigenesis process. In addition, the genetic landscape of 7 CAS patients without mutations in the POT1 gene has been studied. Patients with CAS and nonfunctional POT1 did not repress ATR (ataxia telangiectasia RAD3-related)-dependent DNA damage signaling and showed a constitutive increase of cell cycle arrest and somatic activating mutations in the VEGF (vascular endothelial growth factor)/angiogenesis pathway (KDR gene). The same observation was made in POT1 mutation carriers with tumors different from CAS and also in CAS patients without mutations in the POT1 gene but with mutations in other genes involved in DNA damage signaling. Conclusions: Inhibition of POT1 function and damage-response malfunction activated DNA damage signaling and increased cell cycle arrest as well as interfered with apoptosis, which would permit acquisition of somatic mutations in the VEGF/angiogenesis pathway that drives tumor formation. Therapies based on the inhibition of damage signaling in asymptomatic carriers may diminish defects on cell cycle arrest and thus prevent the apoptosis deregulation that leads to the acquisition of driver mutations
De novo erythroleukemia chromosome features include multiple rearrangements, with special involvement of chromosomes 11 and 19
Erythroid leukemia (ERL or AML-M6) is an uncommon subtype of acute myeloid leukemia, the clinical, morphological, and genetic behavior of which needs further characterization. We analyzed a homogeneous group of 23 de novo AML-M6 patients whose bone marrow cells showed complex karyotypes. We also analyzed eight leukemia cell lines with erythroid phenotype, performing detailed molecular cytogenetic analyses, including spectral karyotyping (SKY) in all samples. The main features are: (1) A majority of patients (56%) had hypodiploidy. Loss of genetic material was the most common genetic change, especially monosomies of chromosome 7 or 18, and deletions of chromosome arm 5q. Taken together, 87% of the cases displayed aberrations involving chromosome 5 or 8. (2) We describe a novel, cryptic, and recurrent translocation, t(11;19)(p11.2;q13.1). Another translocation, t(12;21)(p11.2;q11.2), was found to be recurrent in a patient with ERL and in the K562 cell line. (3) MLL gene rearrangements were detected in 20% of cases (three translocations and three amplifications) and, overall, we defined 52 rearrangements (excluding deletions) with a mean of 2.3 translocations per patient. (4) Of the structural aberrations, 21% involved chromosomes 11 and 19. Most of the rearrangements were unbalanced; only 13 reciprocal translocations were observed. The general picture of chromosomal aberrations in cell lines did not reflect what occurred in patient samples. However, both primary samples and cell lines shared three common breakpoints at 19q13.1, 20q11.2, and 21q11.2. This is the first molecular cytogenetic description of the karyotype abnormalities present in patients with ERL. It should assist in the identification of genes involved in erythroleukemogenesis
Insights gained from the reverse engineering of gene networks in keloid fibroblasts
<p>Abstract</p> <p>Background</p> <p>Keloids are protrusive claw-like scars that have a propensity to recur even after surgery, and its molecular etiology remains elusive. The goal of reverse engineering is to infer gene networks from observational data, thus providing insight into the inner workings of a cell. However, most attempts at modeling biological networks have been done using simulated data. This study aims to highlight some of the issues involved in working with experimental data, and at the same time gain some insights into the transcriptional regulatory mechanism present in keloid fibroblasts.</p> <p>Methods</p> <p>Microarray data from our previous study was combined with microarray data obtained from the literature as well as new microarray data generated by our group. For the physical approach, we used the fREDUCE algorithm for correlating expression values to binding motifs. For the influence approach, we compared the Bayesian algorithm BANJO with the information theoretic method ARACNE in terms of performance in recovering known influence networks obtained from the KEGG database. In addition, we also compared the performance of different normalization methods as well as different types of gene networks.</p> <p>Results</p> <p>Using the physical approach, we found consensus sequences that were active in the keloid condition, as well as some sequences that were responsive to steroids, a commonly used treatment for keloids. From the influence approach, we found that BANJO was better at recovering the gene networks compared to ARACNE and that transcriptional networks were better suited for network recovery compared to cytokine-receptor interaction networks and intracellular signaling networks. We also found that the NFKB transcriptional network that was inferred from normal fibroblast data was more accurate compared to that inferred from keloid data, suggesting a more robust network in the keloid condition.</p> <p>Conclusions</p> <p>Consensus sequences that were found from this study are possible transcription factor binding sites and could be explored for developing future keloid treatments or for improving the efficacy of current steroid treatments. We also found that the combination of the Bayesian algorithm, RMA normalization and transcriptional networks gave the best reconstruction results and this could serve as a guide for future influence approaches dealing with experimental data.</p
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