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Abstract Background 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. Methods 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). Results 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. Conclusions 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.

Purpose Status epilepticus (SE) is a life-threatening neurological emergency, frequently diagnosed in pediatric patients. We aimed to characterize our pediatric cases of SE in an 11-year period according to the 2015 International League Against Epilepsy report. Methods Clinical electronic records were retrospectively reviewed. All pediatric SE cases admitted from January 2010 to December 2020 were included, excluding neonates. SE was considered refractory if it persisted despite the administration of two appropriate antiseizure medications at acceptable doses. Results We included 102 episodes, 55 (53.9%) in boys. The median age was 2.5 years (interquartile range, 1.3 to 5.0). Most episodes were classified as SE with prominent motor features (92.2%), and the most frequent etiological classification was acute symptomatic cause (84.3%). A benzodiazepine was used as the first-line antiseizure medication in 99 (97%) cases, of which diazepam was preferred (93%). The preferred second-line medication was phenytoin (65.7%). Midazolam was the most frequently responsible for termination of SE when given in a continuous infusion (47%). Episodes of SE were classified as refractory in 81 (79.4%) cases. Episodes of >60 minutes were more frequent in patients diagnosed with epilepsy (P=0.036), focal motor SE (P60 minutes), which reinforces the significance of the underlying neurological disease and semiological standardization in pediatric SE.

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in pediatric patients. It is clinically characterized by fever flares lasting 3-7 days, reappearing every 2-8 weeks with a distinctive clockwork regularity. PFAPA generally begins before 5 years of age and usually ceases 3-5 years after onset. Recurrences may be observed in adolescence and adulthood in up to 20% of cases. The authors aim to describe a case of PFAPA recurrence in adolescence temporally associated with allergen-specific immunotherapy (ASIT). A 16-year-old female patient was referred to the rheumatology unit due to recurrent episodes of fever one month after initiating ASIT for allergic rhinitis. These episodes occurred every 4 weeks and lasted 3 days. During these episodes, she also presented with a sore throat, tonsillar exudates, and cervical lymphadenopathy. Abortive treatment with oral prednisolone was attempted in these episodes, with complete resolution of fever after a single dose. After reviewing her medical background, she had previously experienced febrile episodes accompanied by aphthous ulcers and tonsillar exudates occurring every 7-8 weeks from age 2-7. The etiopathogenesis of PFAPA remains uncertain. Environmental triggers, particularly those with immunomodulator effects, may interfere with the immune responses responsible for PFAPA occurrence, but the mechanisms are still unclear. The authors describe the first report of the reappearance of PFAPA flares, possibly due to ASIT. Further studies are needed to fully clarify if ASIT constitutes a true environmental trigger of PFAPA.

Abstract Background The pathogenesis of autism spectrum disorder (ASD) is not fully clarified. Next-generation sequencing technologies have greatly enhanced the identification of new genes associated with ASD. Variants in ANK2 gene are known to correlate with a broad spectrum of clinical cardiac phenotypes, but, more recently, it has also been pointed out as a candidate gene for the etiology of ASD. Case presentation We report the case of a female patient with ASD and epilepsy in whom clinical exome sequencing was performed for etiological enlightenment. A heterozygous variant of uncertain significance was identified in the ANK2 gene: c.3412C > T p.(Arg1138Ter). The child was submitted to a formal cardiac evaluation, ruling out cardiovascular abnormalities. The genetic variant was searched in her parents and was negative in both, suggesting a de novo variant, which favors its pathogenicity. Conclusions We recognize the challenge of assessing variant pathogenicity in candidate genes for ASD, and ANK2 gene is currently not associated with neurodevelopmental disorders in the Online Mendelian Inheritance in Man database. Nonetheless, our case can be added to other published reports of de novo ANK2 variants in children with ASD and neurological phenotypes (including seizures), some without cardiac impairment. Hopefully, this study provides a more detailed phenotypical description that is often lacking, and it may contribute to a better understanding of the association between ANK2 and ASD.

Juvenile idiopathic arthritis (JIA) is the most common systemic disease causing uveitis in childhood and adolescence.

Optimal exact designs are problematic to find and study because there is no unified theory for determining them and studyingtheir properties. Each has its own challenges and when a method exists to confirm the design optimality, it is invariablyapplicable to the particular problem only.We propose a systematic approach to construct optimal exact designs by incorporatingthe Cholesky decomposition of the Fisher Information Matrix in a Mixed Integer Nonlinear Programming formulation. Asexamples, we apply the methodology to find D- and A-optimal exact designs for linear and nonlinear models using global orlocal optimizers. Our examples include design problems with constraints on the locations or the number of replicates at theoptimal design points.

Teachers' sense of identity is influenced by a set of factors, remaining unclear how they relate to each other and how much weight is assigned to them by teachers. Based on the existing literature and empirical data concerning teacher identity and ethical frameworks, this study tested a model aiming to understand how indicators of teacher identity (e.g. ethical orientation, perceived competence, satisfaction of psychological needs, commitment, and global self-esteem) relate to each other. The model was tested through structural equation modelling (SEM) using data from 643 Portuguese teachers, aged between 23 and 66 years (M[subscript years of service] = 15.4). Results showed that ethical orientation can play an important role in teacher identity, having direct and indirect effects on the other components of the model. The findings highlight the importance of ethical orientation as a variable to take into consideration in the study of teacher identity and teacher training.

Xanthogranulomatous pyelonephritis (XPN) is an uncommon variant of chronic pyelonephritis with a poorly understood pathogenesis and a challenging diagnosis. It is rare in pediatric patients, particularly in the neonatal period. We report the case of an 18-day-old female neonate admitted to the emergency room due to macroscopic hematuria and poor feeding. Urinalysis revealed leukocyturia and she was initially admitted under the clinical suspicion of acute pyelonephritis. Renal ultrasound and magnetic resonance imaging (MRI) revealed a progressive nodular lesion in the middle third of the left kidney. Given the suspicion of renal abscess or neoplasm, the patient was transferred to our tertiary hospital. Urinary catecholamines and tumor markers had normal values. Percutaneous kidney biopsy confirmed XPN. Posterior computed tomography scan excluded extension to neighboring structures. A conservative management with systemic antibiotic therapy was decided. She completed 7 weeks of systemic antibiotic therapy (ampicillin and cefotaxime) with progressive reduction of lesion size and posterior calcification. Follow-up at 3 years was uneventful. The lipid profile and study of neutrophil function were normal. Voiding cystourethrography excluded vesicoureteral reflux. The authors intend to highlight the importance of a high index of suspicion of XPN to allow preoperative diagnosis. Histopathological assessment is mandatory to confirm XPN and exclude other entities mimicked by focal and unilateral progressive disease. There are only a few published cases of optimal clinical evolution solely with broad-spectrum antibiotics; however, this may allow a beneficial nephron-sparing approach in selected patients.

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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.

This contribution addresses the optimal design of the heat exchanger network (HEN) for an integrated soybean biorefinery plant which encompasses six process areas: (i) beans preparation; (ii) oil extraction; (iii) miscella distillation; (iv) soy oil refining; (v) sodium methoxide production; and (vi) biodiesel production via homogeneous alkaline transesterification technology. For this purpose, a two-step methodology is employed, where a Total Site Analysis is first carried to estimate the energy targets for the whole process and assess the potential utility co-generation to be distributed to the process sites through the utility system. Subsequently, the HEN design of each site is performed using the Aspen Energy Analyzer, based on a sequential procedure employing Mixed Integer Linear Programming to minimize the HEN total cost. The results obtained reveal that the heat sources in the current process configuration limit the co-generation of utilities, and therefore the process heat waste needs to be preferentially recovered through stream matches within each site. A systematic design procedure is therefore used to identify an optimized HEN configuration, achieving lower utility consumption and lower total heat exchanger area, compared with a previous reference solution. The higher number of heat exchange units of this new design is compensated with the elimination of inter-site streams matches, resulting in a process alternative simpler to implement in practice.

We would like to start by thanking the author for his kind correspondence and his comments on our paper. This corrispondence refers to the following article: Granjo Morais C, Rocha G, Flor-de-Lima F, Éden P, Fragoso AC, Guimarães H. Predictors of prognosis in neonates with congenital diaphragmatic hernia: experience of 12 years. J Pediatr Neonat Individual Med. 2017;6(1):e060126. doi: 10.7363/060126. Comments can be found in the following article: Kumar J. Correspondence: predictors of prognosis in neonates with congenital diaphragmatic hernia. J Pediatr Neonat Individual Med. 2017;6(1):e060139. doi: 10.7363/060139.

Introduction: Congenital diaphragmatic hernia (CDH) is a severe malformation, displaying relevant mortality and morbidity rates in newborns. Aim: To characterize clinically and demographically all neonatal cases of CDH admitted to a level III Neonatal Intensive Care Unit during a 12-year period and to evaluate the predictive value of baseline characteristics on mortality and morbidity at discharge. Methods: Maternal/infant clinical and electronic records were ret- rospectively reviewed. All neonates with posterolateral CDH admitted between January 2003 and December 2014 were included. Results: Fifty-three newborns were included. Overall mortality during hospitalization was 22/53 (41.5%). Clinical characteristics associated with mortality were the presence of intrathoracic liver (p = 0.005), intrathoracic stomach (p = 0.015), elevated arterial pCO2 or lower pH values at admission (respectively, p = 0.001 and p < 0.001), pre-ductal oxygen saturation < 85% at admission (p = 0.012) and surgical repair with prosthetic patch (p = 0.041). Morbidity at discharge was reported in 7 (22.6%) survivors. Stomach herniation and sepsis were associated with higher morbidity (respectively, p = 0.012 and p = 0.029). In a logistic regression, patch repair was the only variable with predictive value for death during hospitalization, with an odds ratio (OR) of 15 (95% CI 0.98-228.9), and intrathoracic stomach was a predictor of morbidity at discharge (OR = 15.7, 95% CI 1.4-174.2). Conclusion: Structural characteristics, namely defect size and presence of intrathoracic stomach, remain the primary determinants of neonatal prognosis in CDH. Although post-natal approaches have progressively proven their value in increasing survival and improving management of high-risk cases, future researches should continue focusing on the definition of foetal anatomical markers of severity and prenatal treatment of CDH.

Although it is often assumed that the predominant southern African systems of misfortune interpretation are deterministic, the notion of “deterministic chaos” seems to be more accurate to understand the underlying principles of the Mozambican divination with tinhlolo. This divination practice does not foresee the future but both the past causes to the present situation, and how would be the future (assumed as mutable and dynamic) if the current conditions would remain unchanged. The aim is, however, to manipulate effectively such conditions, in order to achieve the most desirable result. This system is based on a deterministic structure, it seeks to explain and to regulate uncertainty, but its outcome is chaotic due to the complexity of the involved factors, unknowable in their totality and characterized by agency. To understand it as a “domestication of uncertainty” system legitimates new comparison fields worldwide (including with the probabilistic notion of “risk”), and refocus the study of Ngoma-like phenomena, from their reproduction mechanisms as “affliction cults” to their underlying logics and world views.

This article presents and discusses the cleansing rituals performed by healers on veterans of the Mozambican civil war, in the south of the country. Those rituals recycled treatments previously used for other stressful social situations, together with their rationale. Such cleansing rituals had a remarkably successful contribution to veterans’ social reintegration, largely due to their coherence with the local systems of misfortune interpretation, with the problem they intended to solve, and with well known and respected proceedings. However, their role was deeper than the reintegration of individual veterans; they also contributed to the acceptance of the former enemies as “people like the other” and of the pacific democratic competition, as a substitute to the military confrontation.

Baseando-se num longo período de observação directa e entrevistas, este artigo aponta como principal obstáculo às pouco frutuosas tentativas de diálogo entre biomedicina e "medicina tradicional", em Moçambique, o desconhecimento e/ou desvalorização das noções locais acerca da doença, vertentes sociais da sua etiologia e suas implicações para a noção e processo de cura. Assim, a par da caracterização dos tinyanga (terapeutas putativamente possuídos por espíritos) e das terapias que utilizam, o artigo expõe o sistema localmente dominante de interpretação dos infortúnios, em que as causas materiais (como aconteceu) se combinam com factores sociais ou espirituais (porque aconteceu àquela pessoa). Daí decorre que o processo de cura não se esgota no debelar da enfermidade, implicando também a resolução do problema social do qual ela é uma manifestação - o que constitui uma das especialidades destes terapeutas. Por isso, nem o recurso a tinyanga resulta sobretudo de falta de alternativas de cuidados de saúde, nem é concebível, para estes terapeutas, que o seu entrosamento com o sistema de saúde oficial pudesse restringi-los à sua faceta de herbalistas. Contudo, o debate e negociação do seu espaço, papel e estatuto dentro de futuros quadros gerais de prestação de cuidados de saúde não deverão ser feitos através de "tradutores culturais" bem intencionados, que lhes pretendam "dar voz". Os próprios tinyanga dispõem das capacidades e competência para o fazer, assim tenham interlocutores.Based on a long process of direct observation and interviews, this article states that the main barrier to the unfruitful attempts of dialog between biomedicine and "traditional healers", in Mozambique, is the ignorance and/or undervaluation of the local notions about illness, the social aspects of its aetiology, and their implications for the notion and process of cure. Therefore, together with the characterization of the tinyanga (healers putatively possessed by spirits) and their therapies, the article presents the locally dominant system of misfortune interpretation, in which the material causes (how it happened) are combined with social and spiritual factors (why it happened to that person). As a consequence, the cure is not only the healing of the illness; it includes and demands as well the resolution of the social problem that caused it - and this second aspect of the cure is one of the tinyanga's expertises. For that reason, consulting such healers seldom results from the absence of health care alternatives, and they cannot accept the idea of being limited to their herbalist expertise, in order to be integrated into the official health care system. However, the debate and negotiation about their space, role and status in future general health care systems should not be made through sympathetic "cultural translators". The tinyanga have the abilities to do it with their own voice, as far as they have available interlocutors.

Na indústria moçambicana mais actualizada (fundição de alumínio Mozal), os operários regem o seu trabalho por uma estrita racionalidade tecnológica, mas os anteriores sistemas locais de domesticação do infortúnio, envolvendo espíritos e feitiçaria, são partilhados ou suscitam uma dúvida plausível à maioria deles. Estas racionalidades coexistem em paralelo, com âmbitos de aplicação separados: ou a normalidade do funcionamento tecnológico, ou a interpretação dos acidentes que a subvertem. Por isso, e por ambos os sistemas exigirem atitudes securitárias semelhantes, não são contraditórios nem põem em causa a produtividade e a segurança. Não há razões para que a hegemonia da racionalidade tecnológica leve ao abandono das racionalidades «tradicionais».In the most state-of-the-art Mozambican industry (the Mozal aluminium smelter), workers are guided by strict technological rationality, but earlier local systems of misfortune domestication, involving spirits and sorcery, are shared or give rise to plausible doubt amongst most of them. Such rationalities coexist in parallel, and apply in separate spheres: either in normal technological operation, or in interpreting accidents which subvert it. For this reason, and because both systems demand similar attitudes to security, they are not contradictory, nor do they adversely affect productivity and security. There is no reason for the hegemony of technological rationality to lead to the abandonment of «traditional» rationalities.

Although it is often assumed that the southern African systems of misfortune interpretation are deterministic, the notion of deterministic chaos seems to be more accurate to understand underlying principles of the Mozambican divination with tinhlolo. That system is based on a deterministic structure, it seeks to explain and to regulate the uncertainty, but its outcome is chaotic due to the complexity of the factors involved, unknowable in their totality and characterised by agency. To understand it as a domestication of aleatory system legitimates new comparison fields worldwide (including with the probabilistic notion of "risk"), and refocuses the study of Ngoma-like phenomena, from their reproduction mechanisms as affliction cults to their underlying logics and world visions.Apesar de ser frequentemente assumido que os sistemas de interpretação do azar são determinísticos, pensamos que a noção de "caos determinístico" será mais adequada para compreender os princípios subjacentes ao sistema moçambicano de adivinhação através do tinhlolo. Este sistema assenta numa estrutura determinística, procura explicar e regular a incerteza, mas o seu resultado é caótico dada a complexidade dos factores envolvidos, desconhecidos na sua totalidade e caracterizados pela sua agência. Compreender o tinhlolo como um sistema de "domesticação do aleatório" legitima e amplifica o campo de comparação com outros contextos a nível mundial (incluindo a noção probabilística do "risco") e ressitua o estudo dos fenómenos do tipo Ngoma, dos seus mecanismos de reprodução enquanto cultos de aflição para as suas lógicas subjacentes e visões do mundo.

In recent years, climate changes and fossil resources depletion prompted efforts on R&D of technologies associated with the production of biodiesel, among other biofuels. However, expensive refined vegetable oils and supply shortages of waste cooking oils are still major factors hindering biodiesel market growth to substitute petroleum diesel, due to lack of economic competitiveness and sustainability issues. We address in this paper the production of biodiesel coupled with soybean processing to study possible synergies leading to economic and sustainability gains. Simulations in Aspen Plus® were carried employing detailed thermodynamic and kinetic models from previous works; these were obtained fromexperimental and industrial data, to describe more rigorously the various unit operations. The simulation framework under analysis includes the soybeans preparation and extraction areas, the miscella distillation and physical soybean oil refining, the production of sodium methoxide and biodiesel using the homogeneous alkaline transesterification technology. A base case with a process structure and operating conditions similar to the ones reported in the literature is adopted, and several integration opportunities in the global process are identified. Results show that biodiesel production costs can be significantly reduced from 795 $/t to 584 $/t, by incorporating in the chemical supply chain soy meal, lecithins and soy deodorization distillate (SODD) products that have high commercial value. Moreover, the integration of these processes helps to further reduce the biodiesel production costs by 2.6 % and the amount of wastewater generated by almost 10 %.

The authors studied the relative prevalence of erythroid cytoskeletal protein defects and their relationship with the clinical course of Hereditary Spherocytosis (HS) in 39 Portuguese patients of North of Portugal (25 families). This study showed that, in the North of Portugal, HS is primarily due to anquirin deficiency (72%), followed by band 3 (20%). These findings are similar to the published data in other Caucasian populations. Anquirin primary defects have been difficult to diagnose before splenectomy, due to high reticulocytes counts.

• LABVIRTUAL, a broad scope virtual platform for the teaching of chemical processes. • The platform contains fundamentals, simulators, virtual laboratories, and interactive videos. • A case study is given to demonstrate the use of the existing simulators in LABVIRTUAL. • Results from a students' assessment show that about 60% of them use the platform often or very often. • Typical activities of the students include equipment sizing, autonomous learning, and simulation of chemical processes. Engineering educators have been developing different approaches to supplement scientific background and further develop the ability for autonomous and critical thinking in students. In 2009, the University of Coimbra has made available on-line a virtual platform with a wide scope, directed towards Chemical Engineering education. The platform is divided into four different educational topics: Unit Operations and Separations, Chemical Reaction, Process Systems Engineering and Biological Processes. These sections include simulators, applications, and case studies to help understanding chemical/biochemical processes and improve their autonomy. This paper presents an assessment of the use of that platform by two different groups of students in the school years of 2015/2016 and 2018/2019: a group from the 3rd-year of Chemical Engineering, and another one from a Project Design course (2nd cycle, MSc of Chemical Engineering). A case study addressing the synthesis of phthalic anhydride by o-xylene oxidation on a fixed-bed catalytic reactor is also given to show the use of existing simulators in LABVIRTUAL. [ABSTRACT FROM AUTHOR]

As a complement to the teaching of university students, the use of web based tools enhances students' autonomy, helps in dealing with different learning rhythms and allows reaching students in different locations. Moreover, the web can also be used to attract youngsters (basic and secondary school students) to science subjects. All these functions have been combined in a single web platform "LABVIRTUAL", based in the Chemical Engineering Department of the University of Coimbra. Even if the Portal was developed for the Teaching of Chemical Processes, a specific section directed to the secondary school students has been created as well, grounded on the basic concepts they acquire at the secondary level. In addition, the portal possesses an area dedicated to the understanding of Chemical Engineering. By guiding the secondary school students to the use of these tools, they are led to understand the connection between Engineering (Chemical Engineering) and the basic phenomena they are studying. Moreover, the proximity factor can contribute to rouse the curiosity of the users to search for more advanced information about Chemical Engineering science and applications. This approach may motivate them to engineering subjects and also to raise their interest in the study of basic science subjects for which they start finding a practical application. [ABSTRACT FROM AUTHOR]

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Abstract: The need to develop the capacity for autonomous and critical thinking in students and introduce practical approaches that complement the scientific background, have been acting as driving-forces that motivate engineering educators to develop new teaching methodologies. The Chemical Engineering Departments of both the Universities of Coimbra and Porto have been experimenting in this area and addressing these concerns. Recently, they have been engaged in a broader project, involving a large group of academics with complementary competencies. This project is aimed at developing a virtual platform directed towards the learning of Chemical Processes with a wide scope. From the functional point of view the platform is organized into four main areas: Chemical Engineering, Chemical Processes, Virtual Experiments and Simulators. The Chemical Processes area is further divided into four different sections: Unit Operations and Separations, Chemical Reaction, Process Systems Engineering and Biological Processes. These sections include simulators, applications and case studies to better understand the chemical/biochemical processes. The Virtual Experiments area considers both the laboratory visualization of the basic phenomena related to the processes in the other four sections, and the remote monitoring of laboratory experiments. This platform, constructed around a dynamic Web Portal, allows discussion forums and is also aimed at sharing experiences with other schools. This paper describes the different subjects included in the web platform, as well as the simulation strategies and the web methodologies used for its construction, and also presents examples of application in the classroom. [Copyright &y& Elsevier]

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., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Pascoal, Francisco, Mexia, Pereira, Granjo, Coelho, Barbosa, dos Reis Ferreira and Videira.)

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 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 sLe X/A . Patients with high expression of sLe X/A had 3 years less disease-free survival than patients with lower expression. In tissue, sLe 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 sLe X/A remarkably increased expression of CK5/6, followed by a decreased proliferation and invasion capacity. Among the reported glycoproteins bearing sLe 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 sLe 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, sLe X/A is critical for TNBC malignancy and a potential prognosis biomarker and therapeutic target.

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.

Background: 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., Results: 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., Conclusions: 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.