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Choroideremia (CHM) is a rare X-linked chorioretinal dystrophy causing progressive vision loss due to mutations in the CHM gene, leading to Rab escort protein 1 loss of function. CHM disease is characterized by a progressive degeneration of the choroid, the retinal pigment epithelium (RPE), and the retina. The RPE is a monolayer of polarized cells that supports photoreceptors, providing nutrients, growth factors, and ions, and removes retinal metabolism waste products, having a central role in CHM pathogenesis. Commonly used models such as ARPE-19 cells do not reproduce accurately the nature of RPE cells. Human induced pluripotent stem cells (hiPSCs) can be differentiated into RPE cells (hiPSC-RPE), which mimic key features of native RPE, being more suited to study retinal diseases. Therefore, we took advantage of hiPSCs to generate new human-based CHM models. Two isogenic hiPSC lines were generated through CRISPR/Cas9: a CHM knock-out line from a healthy donor and a corrected CHM patient line using a knock-in approach. The differentiated hiPSC-RPE lines exhibited critical morphological and physiological characteristics of native RPE, including the presence of the tight junction markers Claudin-19 and Zonula Occludens-1, phagocytosis of photoreceptor outer segments, pigmentation, a postmitotic state, and the characteristic polygonal shape. In addition, all the studied cells were able to form retinal organoids. This work resulted in the establishment of isogenic hiPSC lines, representing a new and important CHM cellular model. To our knowledge, this is the first time that isogenic cell lines have been developed to model CHM disease, providing a valuable tool for studying the mechanisms at the onset of RPE degeneration.
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Considering the increase in the production and use of nanomaterials (NM) in food/feed and food contact materials, novel strategies for efficient and sustainable hazard characterization, especially in the early stages of NM development, have been proposed. Some of these strategies encompass the utilization of in vitro simulated digestion prior to cytotoxic and genotoxic assessment. This entails exposing NM to fluids that replicate the three successive phases of digestion: oral, gastric, and intestinal. Subsequently, the resulting digestion products are added to models of intestinal cells to conduct toxicological assays, analyzing multiple endpoints. Nonetheless, exposure of intestinal cells to the digested products may induce cytotoxicity effects, thereby posing a challenge to this strategy. The aim of this work was to describe the challenges encountered with the in vitro digestion INFOGEST 2.0 protocol when using the digestion product in toxicological studies of NM, and the adjustments implemented to enable its use in subsequent in vitro biological assays with intestinal cell models. The adaptation of the digestion fluids, in particular the reduction of the final bile concentration, resulted in a reduced toxic impact of digestion products.
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Mushroom cultivation presents a viable solution for utilizing agro-industrial byproducts as substrates for growth. This process enables the transformation of low-economic-value waste into nutritional foods. Enhancing the yield and quality of preharvest edible mushrooms, along with effectively preserving postharvest mushrooms, stands as a significant challenge in advancing the industry. Implementing pre- and postharvest strategies for Pleurotus ostreatus (Jacq.) P. Kumm (oyster mushroom) within a circular economy framework involves optimizing resource use, minimizing waste, and creating a sustainable and environmentally friendly production system. This review aimed to analyze the development and innovation of the different themes and trends by bibliometric analysis with a critical literature review. Furthermore, this review outlines the cultivation techniques for Pleurotus ostreatus, encompassing preharvest steps such as spawn production, substrate preparation, and the entire mushroom growth process, which includes substrate colonization, fruiting, harvesting, and, finally, the postharvest. While novel methodologies are being explored for maintaining quality and extending shelf-life, the evaluation of the environmental impact of the entire mushroom production to identify areas for improvement is needed. By integrating this knowledge, strategies can be developed for a more sustainable and circular approach to Pleurotus ostreatus mushroom cultivation, promoting environmental stewardship and long-term viability in this industry.
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Dapagliflozin, a sodium-glucose cotransporter 2 inhibitor (SGLT2i), has shown demonstrated benefits for renal and cardiovascular outcomes in large clinical trials. However, short-term concerns regarding its impact on renal function and electrolyte balance exist. This study aimed to evaluate the short-term effects of dapagliflozin on renal function and electrolyte balance in patients newly prescribed the medication. A retrospective analysis of 246 patients who initiated dapagliflozin therapy was conducted. Serum creatinine, sodium, and potassium levels were measured at baseline (before dapagliflozin) and 5-8 days after initiation (endpoint). A Wilcoxon signed-rank test, Pearson's chi-square test, and Fischer's exact test were used for the data analysis. Glycemia and sodium levels were significantly higher at the baseline compared to the endpoint (p < 0.001). Conversely, creatinine and potassium levels were significantly higher at the endpoint than at the baseline (p < 0.001). The prevalence of hyponatremia and hyperkalemia were increased at the endpoint (17.5% vs. 10.2% and 16.7% vs. 8.9%, respectively). Although not statistically significant, a trend towards increased hyponatremia with the co-administration of furosemide was observed (p = 0.089). No significant association was found between potassium-sparing medications (p > 0.05) and hyperkalemia, except for angiotensin receptor blockers (p = 0.017). The combination of dapagliflozin and furosemide significantly increased the risk of acute kidney injury (AKI) at the endpoint (p = 0.006). Age, gender, and chronic kidney disease status did not significantly influence the occurrence of AKI, hyponatremia, or hyperkalemia (p > 0.05). These findings emphasize the importance of the close monitoring of renal function and electrolyte balance, particularly in the early stages of dapagliflozin therapy, especially in patients receiving diuretics or renin-angiotensin-aldosterone system inhibitors.
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Food by-products are a major concern with a direct impact on the economy, society, and environment. The valorisation of these by-products could be an advantageous approach to face the increase in food waste since it can compromise environmental health and food sustainability. On the other hand, this valorisation would allow the development of new food products with health benefits for the population. Cucumis melo L. is a highly consumed fruit all over the world since it has excellent sensory and nutritional qualities, being also a good source of bioactive compounds. However, its peel and seeds are usually discarded. The aim of this study was to evaluate the potential of melon peel flour as a functional ingredient for innovative food products. For that, two different formulations containing melon peel flour were developed (a biscuit and a muffin) by replacing a conventional flour (wheat flour) in different percentages (50% and 100%, respectively). The nutritional composition, total phenolic content, and antioxidant potential of the developed products were studied, showing a high content of fibre, high levels of phenolic compounds and good sensory acceptability. These results show that it is possible to enrich different foods with melon peel flour in order to improve their nutritional properties, contributing to improving public health, simultaneously valorising a usually rejected by-product, reducing food waste and the environmental impact.
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Cucurbitaceae , Eliminação de Resíduos , Farinha/análise , Triticum , SementesRESUMO
Madagascar is a low-income country, highly vulnerable to natural disasters affecting the small-scale subsistence farming system. Recently, climate change and environmental degradation have contributed to an intensification of food insecurity. We aim to monitor the link between dry and hot extremes on vegetation conditions, separated or concurrently, using satellite data, such as LST, ET, ET0, and FAPAR products from SEVIRI/MSG disseminated by LSASAF-EUMETSAT. The analysis was made for a long record from 2004 to 2021, focusing on the extreme seasons of 2020 and 2021. Results highlight the higher impact of combined dry and hot events when compared with isolated events, with a strong response of vegetation in the southern part of Madagascar. Results point to the added value of using the recent data records from geostationary satellites with high temporal resolution and updated in near real-time, to early detect, monitor, and characterize the impact of climate extremes on vegetation dynamics.
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Diets with a low glycemic index (GI) and a low glycemic load (GL) can improve glycemic control, blood lipids, blood pressure and BMI in prediabetes and type 2 diabetes (T2DM), but evidence regarding other aspects of cardiometabolic health is limited. We searched the literature for RCTs published from 2013 to 2023 and reviewed the evidence on low-GI/GL diets and their effects on different aspects of health in prediabetes and T2DM, aiming to build a report on all relevant outcomes included in the studies. We included 14 RCTs with 1055 participants, who were mostly middle-aged individuals with T2DM. Interventions were mostly low GI and lasted 1-36 months. Low-GI/GL foods and diets showed benefits in terms of short-term glycemic control, weight and adiposity. Longer-term trials would be necessary to determine whether these benefits persist over time and/or lead to lower CVD risk and mortality. Effects on lipid profile were inconsistent. Some studies also reported positive effects of low-GI/GL interventions on blood pressure, inflammatory biomarkers, renal function and gut microbiota composition. Future trials should focus on some of these novel outcome measures, which may provide important insights into the metabolic effects of low-GI diets on individuals with diabetes.
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Diabetes Mellitus Tipo 2 , Carga Glicêmica , Estado Pré-Diabético , Pessoa de Meia-Idade , Humanos , Índice Glicêmico , Diabetes Mellitus Tipo 2/metabolismo , Glicemia/metabolismo , DietaRESUMO
Objetivo: Com esta reflexão a autora pretende contribuir para uma maior compreensão dos fenómenos grupais presentes no trabalho de articulação (inter)institucional dos vários profissionais que intervêm na área da saúde mental comunitária. Metodologia: Partindo da sua experiência a autora reflete sobre as múltiplas formas de resistência que podemos encontrar nos grupos de profissionais que intervêm na área da saúde mental comunitária, nomeadamente as resistências que diretamente se manifestam na articulação de âmbito interinstitucional entre profissionais relacionando, de entre outros, o conceito de anti-grupo, cunhado por Morris Nitsun, com os entraves ao funcionamento destes grupos (inter)institucionais. Resultados: São identificados os fenómenos agressivos e destrutivos que se podem constituir como resistências e proposta a sua origem nos mecanismos psíquicos como a transferência, clivagens, deslocamentos, projeções e identificações projetivas. Conclusões: O pensamento e compreensão grupanalítica do funcionamento dos grupos de trabalho é fundamental para que o potencial agressivo e destrutivo dos grupos não seja desvalorizado, ignorado ou estimulado, contribuindo para o seu sucesso.
Objective: With this reflection, the author intends to contribute to a greater understanding of the group phenomena present in the work of inter-institutional articulation in the field of community mental health. Metodology: Based on her experience, the author reflects on the multiple forms of resistance that we can find in groups of professionals who intervene in the area of community mental health, namely the resistance that directly manifests itself in the inter-institutional articulation between professionals relating, among others, the anti-group concept, coined by Morris Nitsun, with the obstacles to the functioning of these inter-institutional groups. Results: Aggressive and destructive phenomena that can constitute resistances are identified and their origin is proposed in internal mechanisms such as transference, cleavages, projections and projective identifications. Conclusions: A groupanalytic thinking and understanding of the functioning of inter-institutional work groups is essencial so that the aggressive and destructive potential of groups is not devalued, ignored or stimulated, contributing to their success.
Objetivo: Con esta reflexión, el autor pretende contribuir a una mayor comprensión de los fenómenos grupales presentes en el trabajo de articulación interinstitucional en el campo de la salud mental comunitaria. Metodología: A partir de su experiencia, la autora reflexiona sobre las múltiples formas de resistencia que podemos encontrar en los grupos de profesionales que intervienen en el área de la salud mental comunitaria, a saber, la resistencia que se manifiesta directamente en la articulación interinstitucional entre profesionales que se relacionan, entre otros, el concepto de antigrupo, acuñado por Morris Nitsun, con los obstáculos para el funcionamiento de estos grupos interinstitucionales. Resultados: Se identifican fenómenos agressivos y destructivos que pueden constituir resistência y se propone su origen en mecanismos psíquicos como la transferência, escisiones, desplazamientos, proyecciones y identificaciones proyectivas. Conclusiones: El pensamiento grupoanalítico y la comprensión del funcionamento de los grupos de trabajo es fundamental para que el potencial agressivo y destructivo de los grupos no sea devaluado, ignorado o estimulado, contribuyendo a su éxito.
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Humanos , Equipe de Assistência ao Paciente , Fenômenos PsicológicosRESUMO
Oxalate is an antinutrient present in a wide range of foods, with plant products, especially green leafy vegetables, being the main sources of dietary oxalates. This compound has been largely associated with hyperoxaluria, kidney stone formation, and, in more severe cases, systematic oxalosis. Due to its impact on human health, it is extremely important to control the amount of oxalate present in foods, particularly for patients with kidney stone issues. In this review, a summary and discussion of the current knowledge on oxalate analysis, its extraction conditions, specific features of analytical methods, reported occurrence in foods, and its health implications are presented. In addition, a brief conclusion and further perspectives on whether high-oxalate foods are truly problematic and can be seen as health threats are shown.
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The global food production industry faces environmental concerns exacerbated by substantial food waste. European countries are striving to reduce food waste towards a circular bioeconomy and sustainable development. To address environmental issues and reduce plastic waste, researchers are developing sustainable active packaging systems, including edible packaging made from industry residues. These innovations aim to increase food safety and quality, extend shelf life, and reduce plastic and food waste. Particularly important in the context of the growing demand for fresh and minimally processed fruits, edible coatings have emerged as a potential solution that offers numerous advantages in maintaining fruit quality. In addition to fruit, edible coatings have also been investigated for animal-based foods to meet the demand for high-quality, chemical-free food and extended shelf life. These products globally consumed can be susceptible to the growth of harmful microorganisms and spoilage. One of the main advantages of using edible coatings is their ability to preserve meat quality and freshness by reducing undesirable physicochemical changes, such as color, texture, and moisture loss. Furthermore, edible coatings also contribute to the development of a circular bioeconomy, promoting sustainability in the food industry. This paper reviews the antimicrobial edible coatings investigated in recent years in minimally processed fruits and traditional sausages. It also approaches bionanocomposites as a recently emerged technology with potential application in food quality and safety.
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Previously, we found that age-dependent accumulation of beta-amyloid is not sufficient to cause synaptic decline. Late-endocytic organelles (LEOs) may be driving synaptic decline as lysosomes (Lys) are a target of cellular aging and relevant for synapses. We found that LAMP1-positive LEOs increased in size and number and accumulated near synapses in aged neurons and brains. LEOs' distal accumulation might relate to the increased anterograde movement in aged neurons. Dissecting the LEOs, we found that late-endosomes accumulated while there are fewer terminal Lys in aged neurites, but not in the cell body. The most abundant LEOs were degradative Lys or endolysosomes (ELys), especially in neurites. ELys activity was reduced because of acidification defects, supported by the reduction in v-ATPase subunit V0a1 with aging. Increasing the acidification of aged ELys recovered degradation and reverted synaptic decline, while alkalinization or v-ATPase inhibition, mimicked age-dependent Lys and synapse dysfunction. We identify ELys deacidification as a neuronal mechanism of age-dependent synapse loss. Our findings suggest that future therapeutic strategies to address endolysosomal defects might be able to delay age-related synaptic decline.
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Neurônios , Sinapses , Neurônios/metabolismo , Endossomos/metabolismo , Lisossomos/metabolismo , Adenosina Trifosfatases/metabolismoRESUMO
Parkinson's Disease (PD) is a common neurodegenerative disorder affecting millions of people worldwide for which there are only symptomatic therapies. Small molecules able to target key pathological processes in PD have emerged as interesting options for modifying disease progression. We have previously shown that a (poly)phenol-enriched fraction (PEF) of Corema album L. leaf extract modulates central events in PD pathogenesis, namely α-synuclein (αSyn) toxicity, aggregation and clearance. PEF was now subjected to a bio-guided fractionation with the aim of identifying the critical bioactive compound. We identified genipin, an iridoid, which relieves αSyn toxicity and aggregation. Furthermore, genipin promotes metabolic alterations and modulates lipid storage and endocytosis. Importantly, genipin was able to prevent the motor deficits caused by the overexpression of αSyn in a Drosophila melanogaster model of PD. These findings widens the possibility for the exploitation of genipin for PD therapeutics.
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Doença de Parkinson , alfa-Sinucleína , Animais , alfa-Sinucleína/metabolismo , Drosophila melanogaster/metabolismo , Doença de Parkinson/metabolismo , Iridoides/farmacologia , Fenóis , LipídeosRESUMO
Objetivo:identificar as relações de afetividade estabelecidas no ambiente de trabalho dos enfermeiros. Método:estudo quantitativo, do tipo analítico, transversalcomposto por 72 Enfermeiros a trabalharem nos serviços de internamento e de urgência. Foram aplicadas as escalas do "Bem-estar Psicológico", "Estilo de Vida Fantástico" e "Ambiente de Trabalho da Prática de Enfermagem". Resultados:a amostra é constituída maioritariamente por enfermeiras (80,6%);solteiras (61,1%);94,4% quase sempre tem alguém com quem conversar sobre assuntos importantes e 88,9% relatamquase sempre dar e receber carinho. Falta de afetoimpacta negativamente na perceção da colaboração entre médicos e enfermeiros, atualização dos planos de cuidados de enfermagem e relevância do diagnóstico de enfermagem. Conclusão:verificou-se um desequilíbrio nas dimensões afetividade e relações interpessoais, as quais influenciam negativamente a qualidade no ambiente de trabalho.
Objective:explore the relationship between affectivityand the nurses' work environment. Method:quantitative, analytical, cross-sectional studycomposed of 72 nurses working in inpatient and emergency services. The scales of "Psychological Well-being", "Fantastic Lifestyle" and "Nursing Practice Work Environment" were applied. Results:the sample consists mostly of nurses (80,6%), single (61,1%), 94,4% almost always have someone to talk to about important matters and 88.9% report almost always giving and receiving affection. Lack of affection negatively impacts the perception of collaboration between doctors and nurses, updating of nursing care plans, and the relevance of the nursing diagnosis. Conclusion:there was an imbalance in the affectivityand interpersonal relationships,which negatively influence the quality of the work environment.
Objetivo:explorar la relación entre la afectividady el ambiente de trabajo de los enfermeros. Método:estudio cuantitativo, analítico, transversalcompuesto por 72 enfermeros que actúan en servicios de hospitalización y urgencias. Se aplicaron las escalas de "Bienestar Psicológico", "Estilo de Vida Fantástico" y "AmbienteLaboral de la Práctica de Enfermería". Resultados:la muestra está compuesta en su mayoría por enfermeras (80,6%), solteras (61,1%), el 94,4% casi siempre tiene con quien hablar de asuntos importantes y el 88,9% refiere casi siempre dar y recibir cariño. La falta de afecto impacta negativamente en la percepción de colaboración entre médicos y enfermeras, la actualización de los planes de atención de enfermería y la pertinencia del diagnóstico de enfermería. Conclusión:hubo un desequilibrio en las dimensiones afectividad y relaciones interpersonales, que influyen negativamente en la calidad del ambiente de trabajo.
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Saúde Ocupacional , Enfermagem , Estilo de Vida Saudável , Condições de Trabalho , Promoção da Saúde , Relações InterpessoaisRESUMO
The drying process is an essential thermal process for preserving vegetables and can be used in developing dried products as healthy alternative snacks. The effects of air-drying conditions using a convection dryer with hot air at different temperatures (60°, 65°, 70°, 75°, and 80 °C, in the range 5-200 min, at a fixed air speed of 2.3 m/s) were tested on the quality of slices (2.0 ± 0.1 mm) of dried sweet potato (Bellevue PBR). For each time and temperature, drying condition, physicochemical parameters (moisture content, CIELab color, texture parameters, total phenolic and carotenoid contents) and a sensory evaluation by a panel at the last drying period (200 min) were assessed. Drying time was shown to have a more significant effect than temperature on the quality of dried sweet potato as a snack, except for carotenoid content. Given the raw tuber content, thermal degradation (p < 0.05) of total phenolic compounds (about 70%), regardless of tested conditions, contrasted with the higher stability of total carotenoids (<30%). The dried product, under optimal conditions (≥75 °C for 200 min), achieved a moisture content (≤10%) suitable for preservation, providing a crispy texture with favourable sensory acceptance and providing a carotenoid content similar to the raw product.
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BACKGROUND: The world's population changed with the emergence of the SARS-CoV-2 pandemic. Burnout arises due to overwork, prolonged work periods, a lack of human and material resources, etc. Several studies have reported the incidence of burnout syndrome in nurses that work in intensive care units (ICUs). The aim was to map the scientific evidence related to nurses' burnout in the ICU, namely the repercussions of SARS-CoV-2 in terms of burnout among nurses. METHODS: A scoping review followed the Joanna Briggs Institute methodology guidelines to search for and synthesise studies published between 2019 and 2022. The databases searched were MEDLINE, CINAHL, LILACS, SCOPUS, PsycINFO and OPEN GREY. A total of fourteen articles were eligible to be included. RESULTS: A content analysis of the selected articles was carried out, and three categories emerged that corresponded to the dimensions of burnout according to Maslach and Leiter: emotional exhaustion, depersonalisation dimension and a lack of personal accomplishment. It was evident that nurses who worked in the ICU during the pandemic showed high levels of burnout. CONCLUSIONS: It is recommended that hospital administrations hire health professionals, namely nurses, as a strategic and operational management strategy to reduce the risk of increased burnout during pandemic outbreaks.
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OBJETIVO: mapear o conhecimento dos estudantes de enfermagem relativo às medidas de prevenção e controlo de infecção associada aos cuidados de saúde. MÉTODO: scoping review segundo a metodologia de Joanna Briggs Institute. A busca foi realizada nas seguintes bases de dados: PubMed, CINAHL® Plus with Full Text, Nursing & Allied Health Collection, Cochrane Plus Collection, MedicLatina (via EBSCOhost). Serão considerados para inclusão nesta revisão estudos escritos em português, inglês e espanhol publicados nos últimos cinco anos e extraídos para a plataforma Rayyan QCRI®. Dois revisores independentes procederam à análise de relevância dos artigos, extração e síntese dos dados, com elaboração do respectivo fluxograma.
OBJECTIVE: to map the knowledge of nursing students regarding infection prevention and control measures associated with health care. METHOD: scoping review according to the Joanna Briggs Institute methodology. The search was conducted in the following databases: PubMed, CINAHL® Plus with Full Text, Nursing & Allied Health Collection, Cochrane Plus Collection, MedicLatina (via EBSCOhost). Studies written in Portuguese, English and Spanish published in the last five years and extracted for the Rayyan QCRI platform will be considered for inclusion in this review®. Two independent reviewers carried out the analysis of the relevance of the articles, extraction and synthesis of the data, with preparation of the respective flowchart.
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Estudantes de Enfermagem , Precauções Universais , Controle de Infecções , Atenção à Saúde , Prevenção de DoençasRESUMO
Physical violence against children and adolescents is an issue of Global Public Health. This study aims to identify traumatic injuries and the medicolegal temporary framework of the victim's profile in the European legal approach. Participants and setting include the following: the clinical reports of a Portuguese European Clinical Academic Center database were analysed. An observational and prospective cohort study was performed. A descriptive analysis of the variables was conducted, considering gender, bimodal age groups, place of residence, offender data, place of occurrence, aetiology, localization, type of injuries, personal injury assessment by Quantum doloris, and injury time. The statistical analysis was performed by Spearman's rho and Kendall's tau-b correlation tests, Pearson's chi-square test of independence (χ2), and Mann-Whitney and Kruskal-Wallis nonparametric tests (P < 0.05). The relationship between age groups and the place of occurrence was statistically significant (P = 0.001). Orofacial and nonorofacial injuries were related (P = 0.035). The General Data Protection Regulation is not a barrier to the treatment and sharing of justified data but a framework for safeguarding individuals' fundamental rights, including the Right to Health. Meticulous reporting of the clinical situation involves the victim, the occurrence, and the potential offender. Key points: An oral health professional's notification of the event is a fundamental step of the judicial process.The timeline is the core of traumatic injury assessment in a child physical abuse scenario.Medicolegal evaluation impacts disability prevention, imputability, and notification of the crime.
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Resumo Enquadramento: A família é o principal recurso da pessoa que adoece, assumindo-se, os seus constituintes, como cuidadores familiares. Objetivo: Identificar as variáveis que influenciam o impacto da perturbação neurocognitiva nos familiares e caracterizar os cuidadores de pessoas com PNC. Metodologia: Estudo quantitativo, descritivo e correlacional, com 262 familiares de pessoas com perturbação neurocognitiva. Resultados: Os cuidadores evidenciam uma associação entre as dimensões impacto emocional (r = 0,526; n = 102; p < 0,01), económica (r = 0,292; n = 102; p < 0,01), procura de suporte (r = 0,279; n = 102; p < 0,01), prestação de cuidados (r = 0,375; n = 102; p < 0,01) com maior sobrecarga percecionada. Entre os membros da família, quanto maior o impacto das relações familiares percebidas, maior o suporte social percebido (r = 0,219; n = 104; p < 0,05); quanto maior o impacto emocional, maior a necessidade de procura de suporte (r = 0,303; n = 104; p < 0,01); e quanto maior o impacto percebido na dimensão económica, maior a necessidade de procura de suporte (r = 0,319; n = 104; p < 0,01). Conclusão: O grau de funcionalidade da família, a dependência da pessoa cuidada, a escolaridade, o género e o grau de parentesco parecem ter influência na adaptação das famílias.
Abstract Background: The family is the main resource of patients, and family members take on the role of family caregivers. Objective: To identify the variables influencing the impact of a neurocognitive disorder (NCD) on family members and characterize the caregivers of people living with a NCD. Methodology: Quantitative, descriptive, and correlational study with a sample of 262 family members of people living with a NCD. Results: Caregivers revealed an association between the emotional dimension (r = 0.526; n = 102; p < 0.01), economic dimension (r = 0.292; n = 102; p < 0.01), support-seeking (r = 0.279; n = 102; p < 0.01), the healthcare-seeking dimension (r = 0.375; n = 102; p < 0.01) and a higher perceived burden. Among family members, the greater the impact of perceived family relations, the greater the perceived social support (r = 0.219; n = 104; p < 0.05); the greater the emotional impact, the greater the need to seek support (r = 0.303; n = 104; p < 0.01); and the greater the perceived impact on the economic dimension, the greater the need to seek support (r = 0.319; n = 104; p < 0.01). Conclusion: The family's functioning, the patient's level of dependence, the education level, the gender, and the degree of kinship seem to influence family adaptation.
Resumen Marco contextual: La familia es el principal recurso de la persona que cae enferma y sus miembros se consideran cuidadores familiares. Objetivo: Identificar las variables que influyen en el impacto del trastorno neurocognitivo en los familiares y caracterizar a los cuidadores de personas con PNC. Metodología: Estudio cuantitativo, descriptivo y correlacional, con 262 familiares de personas con trastorno neurocognitivo. Resultados: Los cuidadores observan una asociación entre las dimensiones impacto emocional (r = 0,526, n = 102, p < 0,01), económica (r = 0,292, n = 102, p < 0,01), búsqueda de apoyo (r = 0,279, n = 102, p < 0,01), prestación de cuidados (r = 0,375, n = 102, p < 0,01) con una mayor carga percibida. Entre los miembros de la familia, cuanto mayor es el impacto de las relaciones familiares percibidas, mayor es el apoyo social percibido (r = 0,219, n = 104, p < 0,05); cuanto mayor es el impacto emocional, mayor es la necesidad de buscar apoyo (r = 0,303, n = 104, p < 0,01), y cuanto mayor es el impacto percibido en la dimensión económica, mayor es la necesidad de buscar apoyo (r = 0,319, n = 104, p < 0,01). Conclusión: El grado de funcionalidad de la familia, la dependencia de la persona cuidada, la educación, el género y el grado de parentesco parecen influir en la adaptación de las familias.
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Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease caused by a CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase gene. AKT dephosphorylation and autophagy are associated with DM1. Autophagy has been widely studied in DM1, although the endocytic pathway has not. AKT has a critical role in endocytosis, and its phosphorylation is mediated by the activation of tyrosine kinase receptors, such as epidermal growth factor receptor (EGFR). EGF-activated EGFR triggers the internalization and degradation of ligand-receptor complexes that serve as a PI3K/AKT signaling platform. Here, we used primary fibroblasts from healthy subjects and DM1 patients. DM1-derived fibroblasts showed increased autophagy flux, with enlarged endosomes and lysosomes. Thereafter, cells were stimulated with a high concentration of EGF to promote EGFR internalization and degradation. Interestingly, EGF binding to EGFR was reduced in DM1 cells and EGFR internalization was also slowed during the early steps of endocytosis. However, EGF-activated EGFR enhanced AKT and ERK1/2 phosphorylation levels in the DM1-derived fibroblasts. Therefore, there was a delay in EGF-stimulated EGFR endocytosis in DM1 cells; this alteration might be due to the decrease in the binding of EGF to EGFR, and not to a decrease in AKT phosphorylation.