The use of practical laboratories is a key in engineering education in order to provide our students with the resources needed to acquire practical skills. This is specially true in the case of ...distance education, where no physical interactions between lecturers and students take place, so virtual or remote laboratories must be used. UNED has developed a system to create and manage virtual remote laboratories, aimed at improving the way how practical exercises are conducted. This system is based on cloud computing and virtualization concepts. These Virtual Remote Laboratories (VRLabs) combine features of traditional virtual and remote laboratories but with clear differences over them, among others, VRLabs do not necessarily access real physical devices but are not based on simulations either. Each student is provided with a virtual remote laboratory based on virtualization that he/she will access through the Internet and will use to implement his/her practical assignments. We present details on how these laboratories are implemented for a subject in a post-degree program in our University. Furthermore, we also present an evaluation of the system used on such subject aiming at assessing the quality of the system regarding three different concepts, namely perceived usefulness, perceived ease of use, and perceived interaction. This evaluation is twofold, first, we have conducted a survey over the students of the subject, and second, we have performed another survey over the teaching team of the subject, both have been performed for the 2012-2013 and 2013-2014 academic years.
Patients and family caregivers living with Congenital Disorders of Glycosylation (CDG) experience a heavy burden, which can impact their resiliency and quality of life. The study's purpose was to ...measure the resilience levels of patients and family caregivers living with CDG using the brief resilience coping scale.
We conducted an observational, cross-sectional study with 23 patients and 151 family caregivers living with CDG. Descriptive analyses were performed to characterize patients with CDG and family caregivers' samples. Additionally, we assessed correlations between resilience and specific variables (e.g., age, academic degree, time until diagnosis) and examined resilience differences between groups (e.g., sex, marital status, occupation, professional and social support).
GNE myopathy was the most prevalent CDG among patients, while in family caregivers was PMM2-CDG. Both samples showed medium levels of resilience coping scores. Individuals with GNE myopathy had significantly higher scores of resilience compared to patients with other CDG. Resilience was positively correlated with educational degree in patients with CDG. Family caregivers had marginally significant higher scores of resilience coping if they received any kind of professional support or had contact with other families or people with the same or similar disease, compared with unsupported individuals.
Despite the inherited difficulties of living with a life-threatening disease like CDG, patients and family caregivers showed medium resilient coping levels. Resilience scores changed significantly considering the CDG genotype, individual's academic degree and professional and social support. These exploratory findings can empower the healthcare system and private institutions by promoting the development of targeted interventions to enhance individuals` coping skills and improve the overall well-being and mental health of the CDG community.
Glycosylation is a critical post-translational modification that plays a pivotal role in several biological processes, such as the immune response. Alterations in glycosylation can modulate the ...course of various pathologies, such as the case of congenital disorders of glycosylation (CDG), a group of more than 160 rare and complex genetic diseases. Although the link between glycosylation and immune dysfunction has already been recognized, the immune involvement in most CDG remains largely unexplored and poorly understood. In this study, we provide an update on the immune dysfunction and clinical manifestations of the 12 CDG with major immune involvement, organized into 6 categories of inborn errors of immunity according to the International Union of Immunological Societies (IUIS). The immune involvement in phosphomannomutase 2 (PMM2)-CDG - the most frequent CDG - was comprehensively reviewed, highlighting a higher prevalence of immune issues during infancy and childhood and in R141H-bearing genotypes. Finally, using PMM2-CDG as a model, we point to links between abnormal glycosylation patterns in host cells and possibly favored interactions with microorganisms that may explain the higher susceptibility to infection. Further characterizing immunopathology and unusual host-pathogen adhesion in CDG can not only improve immunological standards of care but also pave the way for innovative preventive measures and targeted glycan-based therapies that may improve quality of life for people living with CDG.
Triple-negative breast cancer (TNBC) encompasses multiple entities and is generally highly aggressive and metastatic. We aimed to determine the clinical and biological relevance of Sialyl-Lewis X and ...A (sLeX/A)—a fucosylated glycan involved in metastasis—in TNBC. Here, we studied tissues from 50 TNBC patients, transcripts from a TNBC dataset from The Cancer Genome Atlas (TCGA) database, and a primary breast cancer cell line. All 50 TNBC tissue samples analysed expressed sLeX/A. Patients with high expression of sLeX/A had 3 years less disease-free survival than patients with lower expression. In tissue, sLeX/A negatively correlated with cytokeratins 5/6 (CK5/6, which was corroborated by the inverse correlation between fucosyltransferases and CK5/6 genes. Our observations were confirmed in vitro when inhibition of sLeX/A remarkably increased expression of CK5/6, followed by a decreased proliferation and invasion capacity. Among the reported glycoproteins bearing sLeX/A and based on the STRING tool, α6 integrin showed the highest interaction score with CK5/6. This is the first report on the sLeX/A expression in TNBC, highlighting its association with lower disease-free survival and its inverse crosstalk with CK5/6 with α6 integrin as a mediator. All in all, sLeX/A is critical for TNBC malignancy and a potential prognosis biomarker and therapeutic target.
We conducted an observational, cross-sectional study with 23 patients and 151 family caregivers living with CDG. Descriptive analyses were performed to characterize patients with CDG and family ...caregivers' samples. Additionally, we assessed correlations between resilience and specific variables (e.g., age, academic degree, time until diagnosis) and examined resilience differences between groups (e.g., sex, marital status, occupation, professional and social support). GNE myopathy was the most prevalent CDG among patients, while in family caregivers was PMM2-CDG. Both samples showed medium levels of resilience coping scores. Individuals with GNE myopathy had significantly higher scores of resilience compared to patients with other CDG. Resilience was positively correlated with educational degree in patients with CDG. Family caregivers had marginally significant higher scores of resilience coping if they received any kind of professional support or had contact with other families or people with the same or similar disease, compared with unsupported individuals. Despite the inherited difficulties of living with a life-threatening disease like CDG, patients and family caregivers showed medium resilient coping levels. Resilience scores changed significantly considering the CDG genotype, individual's academic degree and professional and social support. These exploratory findings can empower the healthcare system and private institutions by promoting the development of targeted interventions to enhance individuals` coping skills and improve the overall well-being and mental health of the CDG community.
Triple-negative breast cancer (TNBC) encompasses multiple entities and is generally highly aggressive and metastatic. We aimed to determine the clinical and biological relevance of Sialyl-Lewis X and ...A (sLe
)-a fucosylated glycan involved in metastasis-in TNBC. Here, we studied tissues from 50 TNBC patients, transcripts from a TNBC dataset from The Cancer Genome Atlas (TCGA) database, and a primary breast cancer cell line. All 50 TNBC tissue samples analysed expressed sLe
. Patients with high expression of sLe
had 3 years less disease-free survival than patients with lower expression. In tissue, sLe
negatively correlated with cytokeratins 5/6 (CK5/6, which was corroborated by the inverse correlation between fucosyltransferases and CK5/6 genes. Our observations were confirmed in vitro when inhibition of sLe
remarkably increased expression of CK5/6, followed by a decreased proliferation and invasion capacity. Among the reported glycoproteins bearing sLe
and based on the STRING tool, α6 integrin showed the highest interaction score with CK5/6. This is the first report on the sLe
expression in TNBC, highlighting its association with lower disease-free survival and its inverse crosstalk with CK5/6 with α6 integrin as a mediator. All in all, sLe
is critical for TNBC malignancy and a potential prognosis biomarker and therapeutic target.
Clinical management guidelines (CMGs) are decision support tools for patient care used by professionals, patients, and family caregivers. Since clinical experts develop numerous CMGs, their technical ...language hinders comprehension and access by nonmedical stakeholders. Additionally, the views of affected individuals and their families are often not incorporated into treatment guidelines. We developed an adequate methodology for addressing the needs and preferences of family and professional stakeholders regarding CMGs, a recently developed protocol for managing congenital disorders of glycosylation (CDG), a family of rare metabolic diseases. We used the CDG community and phosphomannomutase 2 (PMM2)-CDG CMGs as a pilot to test and implement our methodology.
We listened to 89 PMM2-CDG families and 35 professional stakeholders and quantified their CMG-related needs and preferences through an electronic questionnaire. Most families and professionals rated CMGs as relevant (86.5% and 94.3%, respectively), and valuable (84.3% and 94.3%, respectively) in CDG management. The most identified challenges were the lack of CMG awareness (50.6% of families) and the lack of plain language CMG (39.3% of professionals). Concordantly, among families, the most suggested solution was involving them in CMG development (55.1%), while professionals proposed adapting CMGs to include plain language (71.4%). Based on these results, a participatory framework built upon health literacy principles was created to improve CMG comprehension and accessibility. The outputs are six complementary CMG-related resources differentially adapted to the CDG community's needs and preferences, with a plain language PMM2-CDG CMG as the primary outcome. Additionally, the participants established a distribution plan to ensure wider access to all resources.
This empowering, people-centric methodology accelerates CMG development and accessibility to all stakeholders, ultimately improving the quality of life of individuals living with a specific condition and raising the possibility of application to other clinical guidelines.
At least 50% of chronic disease patients don't follow their care plans, leading to lower health outcomes and higher medical costs. Providing Patient Education Materials (PEMs) to individuals living ...with a disease can help to overcome these problems. PEMs are especially beneficial for people suffering from multisystemic and underrecognized diseases, such as rare diseases. Congenital disorders of glycosylation (CDG) are ultra-rare diseases, where a need was identified for PEMs in plain language that can clearly explain complex information. Community involvement in the design of PEMs is extremely important for diseases whose needs are underserved, such as rare diseases; however, attempts to involve lay and professional stakeholders are lacking. This paper presents a community-based participatory framework to co-create PEMs for CDG, that is transferable to other diseases. A literature review and questionnaire were performed, and only four articles describing the development of PEMS for rare diseases have been found, which demonstrates a lack of standardized approaches. The framework and PEMs were co-developed with CDG families and will be crucial in increasing health literacy and empowering families. We will close a gap in the creation of PEMs for CDG by delivering these resources in lay language in several languages.
Triple-negative breast cancer (TNBC) is aggressive, highly metastatic, and associated with poor patient prognosis. Sialyl-Lewis X and A (sLesup.X/A ) are sugars with important roles in cell ...signalling and metastasis. We aimed to describe the relevance of sLesup.X/A in TNBC patients and its association with other biomarkers. We identified that sLesup.X/A negatively correlated with cytokeratins, structural proteins present at the cell cytoskeleton, and are involved in cell attachment, by using patient tissues, cell lines, and datasets. Our data suggests that sLesup.X/A is decorating proteins such as integrin alpha 6, deregulating cell signalling responsible for hemidesmosome formation, impacting cell adhesion, and promoting metastatic behaviour. This work highlights sLesup.X/A as an important biomarker behind TNBC malignancy to target and treat this breast cancer type. Triple-negative breast cancer (TNBC) encompasses multiple entities and is generally highly aggressive and metastatic. We aimed to determine the clinical and biological relevance of Sialyl-Lewis X and A (sLesup.X/A )—a fucosylated glycan involved in metastasis—in TNBC. Here, we studied tissues from 50 TNBC patients, transcripts from a TNBC dataset from The Cancer Genome Atlas (TCGA) database, and a primary breast cancer cell line. All 50 TNBC tissue samples analysed expressed sLesup.X/A . Patients with high expression of sLesup.X/A had 3 years less disease-free survival than patients with lower expression. In tissue, sLesup.X/A negatively correlated with cytokeratins 5/6 (CK5/6, which was corroborated by the inverse correlation between fucosyltransferases and CK5/6 genes. Our observations were confirmed in vitro when inhibition of sLesup.X/A remarkably increased expression of CK5/6, followed by a decreased proliferation and invasion capacity. Among the reported glycoproteins bearing sLesup.X/A and based on the STRING tool, α6 integrin showed the highest interaction score with CK5/6. This is the first report on the sLesup.X/A expression in TNBC, highlighting its association with lower disease-free survival and its inverse crosstalk with CK5/6 with α6 integrin as a mediator. All in all, sLesup.X/A is critical for TNBC malignancy and a potential prognosis biomarker and therapeutic target.
Rastreabilidade é a capacidade de rastrear a origem, a história e a distribuição de produtos numa cadeia logística. Para implementar rastreabilidade completa, é crucial estabelecer uma cadeia de ...custódia, normalmente definida como uma sequência de procedimentos que valida a propriedade e o controle de produtos ao longo da cadeia de logística. No mercado atual globalizado, as cadeias de logística podem abranger um grande número de países e fronteiras e exigir a interoperabilidade de numerosas organizações. Esta vastidão e complexidade impacta a competitividade dos negócios e dificulta a segurança, e a transparência da cadeia de logística. A implementação da rastreabilidade é fundamental para que as organizações possam posteriormente demonstrar a rastreabilidade, proveniência e integridade e conformidade do produto. A tecnologia Blockchain, com os seus atributos de descentralização, transparência e imutabilidade, tem sido apontada como destinada a revolucionar vários setores, com aplicação ao gerenciamento de cadeias de logística. O presente estudo começa pela revisão da literatura publicada para encontrar aspetos que influenciam o problema e segue a Metodologia de Pesquisa de Projeto para analisar os requisitos e propor uma solução para um sistema de gestão de cadeia de logística com melhor rastreabilidade. Os resultados da tese são artefactos de arquitetura, incluindo um contracto inteligente para Ethereum e um sistema de autenticação baseado em certificados, que permitem a implementação de um sistema de cadeia de logística suportado em Ethereum Blockchain que providencia aos seus utilizadores e ao consumidor final, as funcionalidades de proveniência, rastreabilidade e cadeia de custódia.
