G. M. Gontijo, Vanessa Nishi Ishikawa, Aline Isabela Tiemi Ichikawa, Paula Bubna, Franciele da Silva Conter, Antonio Carlos Madeiro de Queiroz, Rafael Del Picchia, Dayton Douglas da Silva, Irumuara Interaminense Uliana Filho
{"title":"Influences of mindset and lifestyle on sports performance: a systematic review","authors":"G. M. Gontijo, Vanessa Nishi Ishikawa, Aline Isabela Tiemi Ichikawa, Paula Bubna, Franciele da Silva Conter, Antonio Carlos Madeiro de Queiroz, Rafael Del Picchia, Dayton Douglas da Silva, Irumuara Interaminense Uliana Filho","doi":"10.54448/ijn23227","DOIUrl":"https://doi.org/10.54448/ijn23227","url":null,"abstract":"Introduction: In the scenario of the mindset and performance of athletes, the athlete's lifestyle becomes an integral part of this development. e need to focus on the mindset of athletes, exploring the perspectives of elite athletes through a qualitative approach, in order to understand the lifestyle and other factors to which they attribute their success. Objective: It was to carry out a systematic review to present the main studies on the influence of mindset (mindset) on the performance of athletes, as well as the entire lifestyle scenario for this development. Methods: The systematic review rules of the PRISMA Platform were followed. The research was carried out from January to March 2023 in Scopus, PubMed, Science Direct, Scielo, and Google Scholar databases. The quality of the studies was based on the GRADE instrument and the risk of bias was analyzed according to the Cochrane instrument. Results and Conclusion: A total of 118 articles were found, and 32 articles were evaluated in full and 29 were included and developed in this systematic review study. Considering the Cochrane tool for risk of bias, the overall assessment resulted in 52 studies with a high risk of bias and 14 studies that did not meet GRADE. It was concluded that mindsets such as believing in yourself after failure (called the constructive mental code) are very beneficial for athletes' perseverance, motivation, and performance improvement. Still, a positive mindset can positively influence the performance of athletes, showing that mental skills training can lead to better performance in competition. Thus, champion athletes attribute their good mindset as the main predictor of competitive success. However, it is necessary to inform and encourage these practices in coaches and support staff in the area of the psychological skills of athletes. Mindfulness can benefit athletes' mindsets and performance. Cognitive variables, such as coping with stress, are significantly correlated with performance. Highperformance strategies include using honed mental rehearsal skills and practicing recovery.","PeriodicalId":137919,"journal":{"name":"International Journal of Nutrology","volume":"37 23","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133784309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Major nutrological approaches to macronutrients in the performance and body composition of highly trained athletes: a systematic review","authors":"Rosângela da Silva Castanho","doi":"10.54448/ijn23226","DOIUrl":"https://doi.org/10.54448/ijn23226","url":null,"abstract":"Introduction: Findings around nutrient timing require appropriate context because factors such as age, gender, fitness level, previous fueling status, diet status, training volume, training intensity, program design, and time before upcoming training or competition can influence the extent to which timing can play a role in the adaptive response to exercise. Thus, nutrient timing is a feeding strategy that in almost all situations can be useful for promoting recovery and training adaptations. Objective: A systematic review was carried out to elucidate the importance of macronutrient consumption by highly trained athletes on performance and body composition. Methods: The present study followed a systematic review model (PRISMA). The search strategy was carried out in PubMed, Cochrane Library, Web of Science, Scopus, and Google Scholar databases, using scientific articles from 2009 to 2021. The low quality of evidence was attributed to case reports, editorials, and brief communications, according to the GRADE instrument. The risk of bias was analyzed according to the Cochrane instrument. Results and Conclusion: After the study eligibility process, a total of 42 scientifically favorable articles were found to compose the systematic review. Biases did not compromise the scientific basis of the studies. The amount depends on the mode and intensity of exercise, the quality of protein ingested, and the individual's energy and carbohydrate status. However, it should be noted that there is preliminary evidence that consuming much higher amounts of protein (>3 g/kg/d) may confer a benefit concerning body composition. Concerns that protein intake within this range is unhealthy are unfounded in healthy, exercising individuals. One should try to consume whole foods that contain high-quality protein sources. Timing of protein intake in the period spanning the exercise session can provide several benefits, including improved recovery and greater gains in lean body mass. Essential amino acids and leucine supplements are beneficial for the exercising individual by increasing muscle protein synthesis rates, decreasing muscle protein breakdown, and possibly aiding exercise recovery.","PeriodicalId":137919,"journal":{"name":"International Journal of Nutrology","volume":"38 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133103690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Major clinical outcomes of vitamin D deficiency in inflammatory bowel diseases: a systematic and integrative review","authors":"Matheus Prudente Nabuth","doi":"10.54448/ijn23225","DOIUrl":"https://doi.org/10.54448/ijn23225","url":null,"abstract":"Introduction: Clinical studies have proven the direct correlation of vitamin D deficiency in patients suffering from inflammatory bowel diseases, such as Crohn's disease, with an average age of 41 years and more frequently in women. Vitamin D seems to interact with the immune system through its action on the regulation and differentiation of cells such as lymphocytes, macrophages, and natural killer (NK) cells, in addition to interfering with the production of cytokines. Objective: It was to present, through a systematic review, the main clinical outcomes of the correlation of vitamin D deficiency and inflammatory bowel diseases, highlighting Crohn's disease. Methods: The systematic review rules of the PRISMA Platform were followed. The research was carried out from August to October 2022 in the Scopus, PubMed, Science Direct, Scielo, and Google Scholar databases. The quality of the studies was based on the GRADE instrument and the risk of bias was analyzed according to the Cochrane instrument. Results and Conclusion: A total of 207 articles were found, and 142 articles were evaluated and 117 were included in this systematic review. Considering the Cochrane tool for risk of bias, the overall assessment resulted in 20 studies with a high risk of bias and 28 studies that did not meet GRADE. Most studies showed homogeneity in their results, with R2 =95.7% >50%. It was shown that the highest prevalence of low serum levels of vitamin D is among patients suffering from Crohn's disease and other inflammatory bowel diseases when compared to a control group. However, more comprehensive studies are still needed, especially those that aim to evaluate serum vitamin D in values related to clinical treatment and also the effects of vitamin D supplementation on disease activity and mucosal healing. Thus, it will be possible to evaluate in a relevant way, the replacement of vitamin D in the remission of Crohn's disease, optimizing the treatment of patients and corroborating the improvement in quality of life.","PeriodicalId":137919,"journal":{"name":"International Journal of Nutrology","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134107827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vanessa Nishi Ishikawa, G. M. Gontijo, Aline Isabela Tiemi Ichikawa, Paula Bubna, Franciele da Silva Conter, Antonio Carlos Madeiro de Queiroz, Rafael Del Picchia, Bárbara Monteiro Moreira Nunes, Igor Cano Pavesi Cardillo
{"title":"Major metabolic and metabolomic aspects of nutrition in the gut microbiota and sports performance: a systematic review","authors":"Vanessa Nishi Ishikawa, G. M. Gontijo, Aline Isabela Tiemi Ichikawa, Paula Bubna, Franciele da Silva Conter, Antonio Carlos Madeiro de Queiroz, Rafael Del Picchia, Bárbara Monteiro Moreira Nunes, Igor Cano Pavesi Cardillo","doi":"10.54448/ijn23224","DOIUrl":"https://doi.org/10.54448/ijn23224","url":null,"abstract":"Introduction: In the context of sports performance, nutrition has been used to improve the health of the brain, bones, muscles, and cardiovascular system of athletes. However, recent research suggests that the gut microbiota (GM) may also play a role in athlete health and performance. Objective: It was to carry out a systematic review of the main clinical findings, involving the metabolic and metabolomic aspects, of the relationship between gut microbiota and sports performance under control and nutrological modulation. Methods: The systematic review rules of the PRISMA Platform were followed. The research was carried out from January to March 2023 in Scopus, PubMed, Science Direct, Scielo, and Google Scholar databases. The quality of the studies was based on the GRADE instrument and the risk of bias was analyzed according to the Cochrane instrument. Results and Conclusion: A total of 328 articles were found, and 132 articles were evaluated in full and 108 were included and developed in this systematic review study. Considering the Cochrane tool for risk of bias, the overall assessment resulted in 52 studies with a high risk of bias and 74 studies that did not meet GRADE. It was concluded that athletes must feed, train and utilize the entire supraorganism, including the GM, implementing gut-centered dietary strategies to achieve optimal performance. Current evidence suggests that the GM may contribute to sports performance through the production of dietary metabolites (short-chain fatty acids, secondary bile acids), influence on gastrointestinal physiology (e.g. nutrient absorption), and immune modulation (inhibition of pathogens). Dietary strategies common in athletes, such as a high intake of protein and simple carbohydrates and a low intake of nondigestible carbohydrates, may adversely affect the GM and predispose athletes to gastrointestinal problems and thus impair performance. However, adequate dietary fiber intake, a variety of protein sources, and an emphasis on unsaturated fats, especially ɷ-3 fatty acids, as well as supplementation with pre, pro, and synbiotics, have shown promising results in optimizing the health of the athletes and their GM with potential beneficial effects on performance.","PeriodicalId":137919,"journal":{"name":"International Journal of Nutrology","volume":"38 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131419752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Gut-Skin axis and healthy skin: a systematic review","authors":"Fernanda Soubhia Liedtke","doi":"10.54448/ijn23223","DOIUrl":"https://doi.org/10.54448/ijn23223","url":null,"abstract":"Introduction: The skin has a multifactorial aging process, both by intrinsic and extrinsic predictors. Skin diseases contributed almost 2.0% to the global burden of 308 diseases and injuries in recent years. The role of the gut microbiota (GM) in human aging is important. GM directly affects aging through the gastrointestinal system. The microbial impact on the skin is still not fully understood. Objective: The present study analyzed the major scientific evidence on the relationship between gut microbiota and the skin, emphasizing the importance of intestinal health for aesthetically healthy skin. Methods: The systematic review rules of the PRISMA Platform were followed. The research was carried out from February to May 2023 in Scopus, PubMed, Science Direct, Scielo, and Google Scholar databases. The quality of the studies was based on the GRADE instrument and the risk of bias was analyzed according to the Cochrane instrument. Results and Conclusion: A total of 137 articles were found. A total of 47 articles were fully evaluated and 27 were included and developed in the present systematic review study. Considering the Cochrane tool for risk of bias, the overall assessment resulted in 30 studies at high risk of bias and 13 studies that did not meet the GRADE. It was concluded that current scientific evidence reveals the existence of an important Skin-GM axis, highlighting the management of dermatoses through probiotics and prebiotics, as well as lifestyle changes. To establish aesthetically healthy skin, it is imperative to manipulate the gut microbiota to achieve balance. Thus, treatments that elevate or repair a bowel are essential as adjunctive therapy in the management of inflammatory skin diseases and may contribute to the effectiveness of standard dermal therapy.","PeriodicalId":137919,"journal":{"name":"International Journal of Nutrology","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128109527","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Major approaches to the skin-gut microbiota axis under the light of the nutrology of probiotics and prebiotics: a systematic review","authors":"J. D. Lima","doi":"10.54448/ijn23222","DOIUrl":"https://doi.org/10.54448/ijn23222","url":null,"abstract":"Introduction: Skin conditions contributed with about 2.0% to the global burden of 306 diseases and injuries in recent years. The microbiota compositions of lesional skin in atopic dermatitis and psoriasis showed distinct differences compared to healthy skin, as well as healthy skin presented a healthy gut microbiota in the light of nutrology. Objective: It was to analyze, through a systematic review, the main considerations on the Skin-Gut microbiota axis, presenting the importance of intestinal health through nutrology, probiotics and prebiotics. Methods: The systematic review rules of the PRISMA Platform were followed. The research was carried out from August to October 2022 in the Scopus, PubMed, Science Direct, Scielo, and Google Scholar databases. The quality of the studies was based on the GRADE instrument and the risk of bias was analyzed according to the Cochrane instrument. Results: A total of 255 articles were found. A total of 76 articles were evaluated in full and 20 articles were included. Current scientific evidence reveals the existence of an important Skin-Gut microbiota axis in the presence of nutrients responsible for this, highlighting the management of dermatoses through probiotics and prebiotics, as well as changes in lifestyle. Conclusion: Management of aesthetically healthy skin includes manipulation of bowel function. Treatments that augment or repair a leaky gut barrier may become important as adjunctive therapy in the management of inflammatory skin conditions and may help to enhance the effectiveness of standard dermal therapy.","PeriodicalId":137919,"journal":{"name":"International Journal of Nutrology","volume":"78 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130888003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mayelin Abreu Jorrin, Sergio Hernandez Cumbá, Justa Carmen Columbié Regüeiferos
{"title":"Major considerations of nutrological aspects, gut microbiota, and regulation (down or up-regulation) of microRNAs/exosomes in inflammatory bowel diseases: a systematic review","authors":"Mayelin Abreu Jorrin, Sergio Hernandez Cumbá, Justa Carmen Columbié Regüeiferos","doi":"10.54448/ijn23221","DOIUrl":"https://doi.org/10.54448/ijn23221","url":null,"abstract":"Introduction: Inflammatory bowel diseases (IBD) are multifactorial, chronic, continuous, relapsing, and immune-mediated diseases of the gastrointestinal tract. The pathogenesis of IBD is linked to genetically susceptible individuals, dysregulated gut microbiota (dysbiosis), chronic inflammation, and poor dietary patterns. Diet and microRNAs/exosomes play an important role in modulating the intestinal microbiota, and can be applied as a therapeutic tool to improve the course of IBD. Objective: It was to carry out a systematic review of the main considerations of nutrological aspects, intestinal microbiota, and the regulation (Down or Up-regulation) and modulation of microRNAs/exosomes in inflammatory bowel diseases. Methods: The present study followed the international model of systematic review and meta-analysis (PRISMA). Clinical studies were included, involving randomized controlled, prospective, and retrospective studies, as well as pre-clinical studies, published in previous years as gold standard articles until 2023. Results and Conclusion: A total of 154 articles were found. A total of 78 articles were fully evaluated and 55 were included in this systematic review. Considering the Cochrane tool for risk of bias, 22 studies with a high risk of bias and 24 studies that did not meet the GRADE were removed. Most studies showed homogeneity in their results, with X2 =93.5% >50%. The present study analyzed the main interactions between dietary therapy, intestinal microbiota, microRNAs, exosomes, and inflammatory bowel disease, elucidating the main clinical outcomes of the disease after nutrological treatment. As a corollary, important randomized controlled clinical studies were found in the last ten years that showed the important role of diet modulation in the control and even in the remission of inflammatory bowel disease, revealing important reductions in persistent intestinal symptoms, in the balance of the intestinal microbiota, in the regulatory role of microRNAs, reducing inflammation markers and improving quality of life. Recognition of the need for additional data from clinical trials, the inherent uncertainty of efficacy for all inflammatory bowel disease therapies, and the potential for benefit with dietary interventions will help guide progress toward a better understanding of the usefulness of dietary therapy for individuals with inflammatory bowel disease.","PeriodicalId":137919,"journal":{"name":"International Journal of Nutrology","volume":"17 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129152635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Nutritional therapy in celiac disease: a review of the gluten-free diet as a modulator of cardiovascular risk factors","authors":"Kaique Flávio Xavier Cardoso Filardi, Rafaela Goes Machado, Melissa Mello Mazepa, Vitória Ramos Jayme, Morgana Tonhá Flores","doi":"10.54448/ijn23219","DOIUrl":"https://doi.org/10.54448/ijn23219","url":null,"abstract":"Introduction: Celiac Disease (CD) is a chronic immune-mediated enteropathy precipitated by dietary exposure to gluten in genetically predisposed individuals. The CD has been reported as a rare disease, with an estimated prevalence of 0.3 to 2% worldwide. Objective: This study aimed to review the literature on the role of a gluten-free diet in cardiovascular risk factors in patients with celiac disease, specifically related to lipid profile, body mass index, and diabetes mellitus. Methods: This is a non-systematic literature review study, carried out from July to October 2017. Relevant publications available in the PubMed and BIREME databases were identified. The literature review included randomized controlled trials, cohort studies, casecontrol studies, and cross-sectional analyses. Results and Conclusion: CD it is a disease of special interest due to its association with other autoimmune disorders, intestinal malabsorption, with specific comorbidities, and because its main control mechanism is dietary therapy: the Gluten-Free Diet. Bearing in mind the increase in the worldwide prevalence of celiac disease and its relationship with cardiovascular risk, which may be attributable both to the pathophysiological role of the disease and to the therapeutic plan (dietary), scientific investment in this sphere of public health becomes more than necessary. The influence of gluten-free diet on the cardiovascular risk parameters studied in this review is still not entirely clear. Some studies have suggested that gluten-free diet may have a beneficial effect on the lipid profile of celiac patients, while others have shown that the diet probably does not change or induce atherosclerosis by raising the lipid profile of these patients. In addition, by altering caloric and glycemic intake, the reviewed studies demonstrated a greater tendency towards hyperglycemia and the development of insulin resistance in celiac patients on gluten-free diet. As well as there was a trend towards an increase in body mass index after the introduction of gluten-free diet. However, some authors report that based on these available data, it is not possible to state whether there is a better or worse cardiovascular risk profile after the introduction of gluten-free diet, and therefore, continuity with clinical studies is necessary.","PeriodicalId":137919,"journal":{"name":"International Journal of Nutrology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130662238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Medical Ethics in Nutrology","authors":"C. Barbosa","doi":"10.54448/ijn23220","DOIUrl":"https://doi.org/10.54448/ijn23220","url":null,"abstract":"Few medical specialties have aroused as much interest as Nutrology in these post-modern times of beauty and slimming at any cost. Medical Schools need to make an effort to raise the awareness of future physicians on this issue, which is so sensitive today: Ethics in Medicine.","PeriodicalId":137919,"journal":{"name":"International Journal of Nutrology","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"130132259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C. A. Werutsky, W. Silva, Jr., A. Marques, G. A. D. Molfett, J. E. Santos
{"title":"Family hypercholesterolemia and LDLR mutations in communities of european origin in southern Brazil: a prospective observational cohort study","authors":"C. A. Werutsky, W. Silva, Jr., A. Marques, G. A. D. Molfett, J. E. Santos","doi":"10.54448/ijn23218","DOIUrl":"https://doi.org/10.54448/ijn23218","url":null,"abstract":"Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by high levels of circulating low-density lipoprotein (LDL) and premature coronary heart events. A quarter of the population of Southern Brazil is affected by hypercholesterolemia and the region has the highest mortality rates due to cardiovascular disease in the country. The aim of this study was to describe LDLR mutations in European descendants with FH living in Southern Brazil. Ten mL of venous blood were taken from 40 patients and used for DNA extraction and subsequent Polymerase Chain Reaction (PCR). The DNA fragments were sequenced and analyzed and the data obtained were compared to reference values from the University of California Santa Cruz (UCSC) Genome Browser. A total of 15 mutations were identified in 38 patients (95% of the total samples). These mutations were located in exons 11 (P518L) and 15 (D727G) in Italian, Portuguese and Spanish descendants and the *105T>G mutation, still undescribed, should be critically evaluated by means of mRNA alteration studies. The present study demonstrated for the first time the presence of the P518L mutation located in exon 11 of the LDLR gene in European descendants living in southern Brazil. This mutation has a high potential to be pathogenic since it is located in a domain responsible for LDLR release from the endoplasmic reticulum (ER).","PeriodicalId":137919,"journal":{"name":"International Journal of Nutrology","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115206769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}