Pub Date : 2024-08-23DOI: 10.1038/s41430-024-01498-6
Thomas Sun, Brian Shaw, Jorge Cusco, Jacqueline Kropf, Tirrell Johnson, S J Carlan
Vitamin C deficiency, otherwise known as scurvy, is one the oldest known diseases. Although its prevalence has substantially diminished, certain populations such as smokers, alcoholics, elderly, and those with malabsorptive syndromes remain at risk. Deficiency presents with perifollicular hemorrhage, corkscrew hairs, and petechiae that can evolve into ecchymoses and purpura. Diagnosis starts with clinical suspicion and is confirmed with plasma and leukocyte ascorbic acid levels. Early suspicion is key. Treatment with vitamin C offers an excellent prognosis and avoids unnecessary workup for differential diagnoses. In our case, a 45-year-old male alcoholic with progressively worsening symptoms was found to have scurvy. Treatment was initiated with vitamin C supplementation, and he had remarkable improvement in his symptoms within weeks. This case demonstrates that scurvy is not a disease of history and must be considered in modern medicine, especially as homelessness with concomitant poor nutrition continues to increase.
维生素 C 缺乏症又称坏血病,是已知的最古老的疾病之一。虽然其发病率已大大降低,但某些人群,如吸烟者、酗酒者、老年人和患有消化不良综合征的人仍有患病风险。缺乏症表现为毛囊周围出血、鸡冠状毛发和瘀斑,可发展为瘀点和紫癜。诊断始于临床怀疑,并通过血浆和白细胞抗坏血酸水平进行确诊。早期怀疑是关键。使用维生素 C 治疗可获得良好的预后,并避免不必要的鉴别诊断检查。在我们的病例中,一名 45 岁的男性酗酒者因症状逐渐加重而被发现患有坏血病。在开始补充维生素 C 的治疗后,他的症状在几周内就得到了明显改善。本病例表明,坏血病并不是一种历史疾病,现代医学必须考虑到这一点,尤其是在无家可归并伴随营养不良的情况不断增加的情况下。
{"title":"Scurvy presenting in a homeless 32-year-old male: a case report.","authors":"Thomas Sun, Brian Shaw, Jorge Cusco, Jacqueline Kropf, Tirrell Johnson, S J Carlan","doi":"10.1038/s41430-024-01498-6","DOIUrl":"https://doi.org/10.1038/s41430-024-01498-6","url":null,"abstract":"<p><p>Vitamin C deficiency, otherwise known as scurvy, is one the oldest known diseases. Although its prevalence has substantially diminished, certain populations such as smokers, alcoholics, elderly, and those with malabsorptive syndromes remain at risk. Deficiency presents with perifollicular hemorrhage, corkscrew hairs, and petechiae that can evolve into ecchymoses and purpura. Diagnosis starts with clinical suspicion and is confirmed with plasma and leukocyte ascorbic acid levels. Early suspicion is key. Treatment with vitamin C offers an excellent prognosis and avoids unnecessary workup for differential diagnoses. In our case, a 45-year-old male alcoholic with progressively worsening symptoms was found to have scurvy. Treatment was initiated with vitamin C supplementation, and he had remarkable improvement in his symptoms within weeks. This case demonstrates that scurvy is not a disease of history and must be considered in modern medicine, especially as homelessness with concomitant poor nutrition continues to increase.</p>","PeriodicalId":11927,"journal":{"name":"European Journal of Clinical Nutrition","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142046504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-23DOI: 10.1038/s41430-024-01483-z
Luís B Sardinha, Inês R Correia, João P Magalhães, Pedro B Júdice, Analiza M Silva, Megan Hetherington-Rauth
{"title":"Correction: Development and validation of BIA prediction equations of upper and lower limb lean soft tissue in athletes.","authors":"Luís B Sardinha, Inês R Correia, João P Magalhães, Pedro B Júdice, Analiza M Silva, Megan Hetherington-Rauth","doi":"10.1038/s41430-024-01483-z","DOIUrl":"https://doi.org/10.1038/s41430-024-01483-z","url":null,"abstract":"","PeriodicalId":11927,"journal":{"name":"European Journal of Clinical Nutrition","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142046503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-21DOI: 10.1038/s41430-024-01496-8
Xiaoyi Shi, Lirong Chai, Dongfeng Zhang, Junning Fan
Background: Previous studies using a single obesity indicator cannot fully assess the association between body shape and mortality. We aimed to investigate the association between complementary anthropometric measures and all-cause mortality risk.
Methods: We combined National Health and Nutrition Examination Survey (NHANES) data from 2011 to 2016 with mortality data up to December 31, 2019. After excluding individuals with cancer at baseline, 13,728 participants were included. Cox regression models and restricted cubic spline (RCS) analyses were used to explore the association between general obesity, central obesity, and peripheral fat indicators and all-cause mortality risk.
Results: A total of 743 deaths occurred over a median follow-up of 5.83 years. In multivariable-adjusted Cox models, each 10-cm increase in waist circumference (WC), each 0.1-unit increase in waist-to-height ratio (WHtR), and each 0.01-unit increase in A Body Shape Index (ABSI) were associated with 20% (HR = 1.20; 95% CI: 1.02-1.41), 119% (2.19; 1.70-2.83), and 5% (1.05; 1.03-1.08) increased all-cause mortality risk, respectively. Conversely, each 1-cm increment in mid-arm circumference (MAC) was associated with 13% (HR = 0.87; 95% CI: 0.83-0.92) decreased mortality risk. Compared with normal group (body mass index (BMI): 18.5- <25.0), underweight (HR = 1.97; 95% CI: 1.12-3.45) and grade 3 obesity (1.37; 1.04-1.81) were at higher mortality risk. However, after further adjustment for WC, the effect of grade 3 obesity disappeared, and the RCS analyses for BMI changed from a J-shaped (P < 0.05 for non-linearity test) to a negative association (P < 0.01).
Conclusions: Underweight, grade 3 obesity, and central obesity were associated with an increased mortality risk, while peripheral fat was inversely associated with mortality.
{"title":"Association between complementary anthropometric measures and all-cause mortality risk in adults: NHANES 2011-2016.","authors":"Xiaoyi Shi, Lirong Chai, Dongfeng Zhang, Junning Fan","doi":"10.1038/s41430-024-01496-8","DOIUrl":"10.1038/s41430-024-01496-8","url":null,"abstract":"<p><strong>Background: </strong>Previous studies using a single obesity indicator cannot fully assess the association between body shape and mortality. We aimed to investigate the association between complementary anthropometric measures and all-cause mortality risk.</p><p><strong>Methods: </strong>We combined National Health and Nutrition Examination Survey (NHANES) data from 2011 to 2016 with mortality data up to December 31, 2019. After excluding individuals with cancer at baseline, 13,728 participants were included. Cox regression models and restricted cubic spline (RCS) analyses were used to explore the association between general obesity, central obesity, and peripheral fat indicators and all-cause mortality risk.</p><p><strong>Results: </strong>A total of 743 deaths occurred over a median follow-up of 5.83 years. In multivariable-adjusted Cox models, each 10-cm increase in waist circumference (WC), each 0.1-unit increase in waist-to-height ratio (WHtR), and each 0.01-unit increase in A Body Shape Index (ABSI) were associated with 20% (HR = 1.20; 95% CI: 1.02-1.41), 119% (2.19; 1.70-2.83), and 5% (1.05; 1.03-1.08) increased all-cause mortality risk, respectively. Conversely, each 1-cm increment in mid-arm circumference (MAC) was associated with 13% (HR = 0.87; 95% CI: 0.83-0.92) decreased mortality risk. Compared with normal group (body mass index (BMI): 18.5- <25.0), underweight (HR = 1.97; 95% CI: 1.12-3.45) and grade 3 obesity (1.37; 1.04-1.81) were at higher mortality risk. However, after further adjustment for WC, the effect of grade 3 obesity disappeared, and the RCS analyses for BMI changed from a J-shaped (P < 0.05 for non-linearity test) to a negative association (P < 0.01).</p><p><strong>Conclusions: </strong>Underweight, grade 3 obesity, and central obesity were associated with an increased mortality risk, while peripheral fat was inversely associated with mortality.</p>","PeriodicalId":11927,"journal":{"name":"European Journal of Clinical Nutrition","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142008484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-15DOI: 10.1038/s41430-024-01489-7
Qiuyan Luo, Guoting Liu, Qiulan Li, Jinghong Lu, Wenjing Zheng, Yukui Huang, Cun Li
Background: Observational studies have associated nonalcoholic fatty liver disease (NAFLD) with adverse pregnancy events, but findings show heterogeneity, leaving the causal direction and mediating pathways unclear. We aimed to investigate the causal relation between NAFLD and various pregnancy events, and to elucidate the underlying mediating pathways while determining the proportion of this correlation that is mediated through these pathways.
Methods: A genome-wide association study involving over 6 million participants employing Mendelian randomization (MR) and mediation analysis was performed. The study used genetically predicted NAFLD as exposures and cardiometabolic traits as mediators, with various adverse pregnancy events as outcomes. The main analysis was performed using the inverse variance weighted (IVW) approach, while sensitivity analyses included the weighted median, weighted mode, MR-Egger, and MR-PRESSO methods. Mediation analyses were performed using a two-step MR framework.
Results: In this MR cohort study, NAFLD was found to be strongly associated with elevated risks of GDM (P = 0.019 for the discovery dataset, P < 0.001 for the discovery dataset) and HDPs, including any HDP (P < 0.001 for the both datasets), gestational hypertension (P = 0.007 for the discovery dataset, P < 0.001 for the discovery dataset), and pre-eclampsia or eclampsia (P = 0.040 for the discovery dataset, P < 0.001 for the discovery dataset). However, no significant associations were found with hemorrhage in early pregnancy, postpartum hemorrhage, preterm birth, or offspring birthweight for both datasets. Cardiometabolic traits played a significant mediating role in these associations, rather than solely acting as confounding factors.
Conclusions: This study provided evidence supporting a correlation between NAFLD and a higher risk of adverse pregnancy events and introduces some new insights. These findings may inform preventions and interventions for remediating adverse pregnancy outcomes attributable to NAFLD.
{"title":"Novel insights into causal effects of maternal nonalcoholic fatty liver disease on adverse pregnancy outcomes: evidence from Human Genetics and Mendelian Randomization Study.","authors":"Qiuyan Luo, Guoting Liu, Qiulan Li, Jinghong Lu, Wenjing Zheng, Yukui Huang, Cun Li","doi":"10.1038/s41430-024-01489-7","DOIUrl":"https://doi.org/10.1038/s41430-024-01489-7","url":null,"abstract":"<p><strong>Background: </strong>Observational studies have associated nonalcoholic fatty liver disease (NAFLD) with adverse pregnancy events, but findings show heterogeneity, leaving the causal direction and mediating pathways unclear. We aimed to investigate the causal relation between NAFLD and various pregnancy events, and to elucidate the underlying mediating pathways while determining the proportion of this correlation that is mediated through these pathways.</p><p><strong>Methods: </strong>A genome-wide association study involving over 6 million participants employing Mendelian randomization (MR) and mediation analysis was performed. The study used genetically predicted NAFLD as exposures and cardiometabolic traits as mediators, with various adverse pregnancy events as outcomes. The main analysis was performed using the inverse variance weighted (IVW) approach, while sensitivity analyses included the weighted median, weighted mode, MR-Egger, and MR-PRESSO methods. Mediation analyses were performed using a two-step MR framework.</p><p><strong>Results: </strong>In this MR cohort study, NAFLD was found to be strongly associated with elevated risks of GDM (P = 0.019 for the discovery dataset, P < 0.001 for the discovery dataset) and HDPs, including any HDP (P < 0.001 for the both datasets), gestational hypertension (P = 0.007 for the discovery dataset, P < 0.001 for the discovery dataset), and pre-eclampsia or eclampsia (P = 0.040 for the discovery dataset, P < 0.001 for the discovery dataset). However, no significant associations were found with hemorrhage in early pregnancy, postpartum hemorrhage, preterm birth, or offspring birthweight for both datasets. Cardiometabolic traits played a significant mediating role in these associations, rather than solely acting as confounding factors.</p><p><strong>Conclusions: </strong>This study provided evidence supporting a correlation between NAFLD and a higher risk of adverse pregnancy events and introduces some new insights. These findings may inform preventions and interventions for remediating adverse pregnancy outcomes attributable to NAFLD.</p>","PeriodicalId":11927,"journal":{"name":"European Journal of Clinical Nutrition","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-13DOI: 10.1038/s41430-024-01493-x
Qiujin Chen, Liang Ou
To explore the relationship between Dietary Inflammatory Index (DII) and chronic kidney disease (CKD) risk, we obtained 6 studies (3 prospective studies and 3 cross-sectional studies) from PubMed, CBM, Cochrane Library, and Embase, as of March 6, 2023. Our results revealed a positive link between the CKD risk and rising DII that signified a pro-inflammatory diet. With medium heterogeneity (Overall RR = 1.44, 95%CI: 1.22, 1.71; I2 = 64.7%, P = 0.015), individuals in the highest DII exposure category had a 44% greater overall risk of developing CKD than those in the lowest DII exposure category. According to risk estimations from cross-sectional studies, individuals in the highest DII exposure category had a 64% higher risk of developing CKD than those in the lowest DII exposure category, with significant heterogeneity (RR = 1.64, 95%CI: 1.18, 2.29; I2 = 70.9%, P = 0.032). The risk estimates in cohort studies revealed individuals in the highest DII exposure category had a 28% higher risk of CKD than those in the lowest DII exposure category, with a low heterogeneity (RR = 1.28, 95%CI: 1.14, 1.44; I2 = 17.2%, P = 0.015). Cross-sectional studies showed a nonlinear dose-response relationship between DII and CKD risk, while cohort studies indicated a linear dose-response relationship. Meta-regression results showed publication year, study design, and country had no significant correlation with the meta-analysis. The subgroup analysis results remained consistent. Results support the significance and importance of adopting a better anti-inflammatory diet in preventing CKD. These findings further confirm DII as a tool of the inflammatory potential of the diet to prevent and delay the onset and progression of CKD.
{"title":"Meta-analysis of the association between the dietary inflammatory index and risk of chronic kidney disease.","authors":"Qiujin Chen, Liang Ou","doi":"10.1038/s41430-024-01493-x","DOIUrl":"https://doi.org/10.1038/s41430-024-01493-x","url":null,"abstract":"<p><p>To explore the relationship between Dietary Inflammatory Index (DII) and chronic kidney disease (CKD) risk, we obtained 6 studies (3 prospective studies and 3 cross-sectional studies) from PubMed, CBM, Cochrane Library, and Embase, as of March 6, 2023. Our results revealed a positive link between the CKD risk and rising DII that signified a pro-inflammatory diet. With medium heterogeneity (Overall RR = 1.44, 95%CI: 1.22, 1.71; I<sup>2</sup> = 64.7%, P = 0.015), individuals in the highest DII exposure category had a 44% greater overall risk of developing CKD than those in the lowest DII exposure category. According to risk estimations from cross-sectional studies, individuals in the highest DII exposure category had a 64% higher risk of developing CKD than those in the lowest DII exposure category, with significant heterogeneity (RR = 1.64, 95%CI: 1.18, 2.29; I<sup>2</sup> = 70.9%, P = 0.032). The risk estimates in cohort studies revealed individuals in the highest DII exposure category had a 28% higher risk of CKD than those in the lowest DII exposure category, with a low heterogeneity (RR = 1.28, 95%CI: 1.14, 1.44; I<sup>2</sup> = 17.2%, P = 0.015). Cross-sectional studies showed a nonlinear dose-response relationship between DII and CKD risk, while cohort studies indicated a linear dose-response relationship. Meta-regression results showed publication year, study design, and country had no significant correlation with the meta-analysis. The subgroup analysis results remained consistent. Results support the significance and importance of adopting a better anti-inflammatory diet in preventing CKD. These findings further confirm DII as a tool of the inflammatory potential of the diet to prevent and delay the onset and progression of CKD.</p>","PeriodicalId":11927,"journal":{"name":"European Journal of Clinical Nutrition","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background/objectives: There is a lack of certainty in dietary prescription for individuals with inflammatory bowel disease (IBD) due to heterogeneity in studies to date. The aim of this study was to investigate the efficacy on disease activity of a modified anti-inflammatory dietary pattern purposely designed to reduce intake of food additives (IBD-MAID), compared to standard care, in adults with IBD.
Subject/methods: Adults with IBD were randomised to IBD-MAID (meals provided) [n = 29] or general healthy eating (GHE) [n = 29] for 8 weeks. Disease activity, faecal calprotectin (FC), C-reactive protein (CRP), symptoms, and quality of life (S&QOL) were assessed using validated tools.
Results: The IBD-MAID was well tolerated and adhered to (92% adherence). At week 8, there was no statistically significant difference in change from baseline in outcome measures between groups. However, baseline to week 8 analysis indicated: (1) statistically significant improvements in S (p = 0.001) & QOL (p = 0.004), FC (p = 0.007), and Crohn's disease activity (p = 0.03) but not ulcerative colitis, in individuals following the IBD-MAID and (2) statistically significant improvement in QOL in individuals receiving GHE (p = 0.015). Correlation analysis on change from baseline to week 8 revealed a greater decrease in food additives intake was associated with statistically significant improvements in FC, S & QOL and alignment of anti-inflammatory dietary principles with improvements in QOL.
Conclusion: The IBD-MAID was well tolerated. The most novel finding pertains to the correlation between reduced food additives intake and improvements in inflammatory markers, S&QOL. Further research is needed to explore the effects of food additives exposure on IBD course.
Trial registration: 12619001500145.
背景/目的:由于迄今为止的研究存在异质性,因此针对炎症性肠病(IBD)患者的饮食处方缺乏确定性。本研究的目的是调查一种旨在减少食品添加剂摄入量的改良抗炎饮食模式(IBD-MAID)与标准疗法相比,对成人 IBD 患者疾病活动的疗效:成人 IBD 患者被随机分配到 IBD-MAID(提供膳食)[n = 29]或一般健康饮食(GHE)[n = 29],为期 8 周。采用经过验证的工具对疾病活动、粪便热保护蛋白(FC)、C反应蛋白(CRP)、症状和生活质量(S&QOL)进行评估:IBD-MAID 的耐受性和依从性良好(依从性为 92%)。第 8 周时,各组间结果指标与基线相比的变化无显著统计学差异。然而,从基线到第 8 周的分析表明:(1) 接受 IBD-MAID 治疗的患者在 S (p = 0.001) 和 QOL (p = 0.004)、FC (p = 0.007) 和克罗恩病活动度 (p = 0.03) 方面有统计学意义的显著改善,但溃疡性结肠炎患者没有;(2) 接受 GHE 治疗的患者在 QOL 方面有统计学意义的显著改善 (p = 0.015)。对从基线到第 8 周的变化进行的相关分析表明,食物添加剂摄入量的大幅减少与 FC、S 和 QOL 的改善有统计学意义,而抗炎饮食原则与 QOL 的改善一致:结论:IBD-MAID 的耐受性良好。结论:IBD-MAID 的耐受性良好,最新颖的发现是减少食品添加剂摄入量与炎症指标、S 和 QOL 改善之间的相关性。还需要进一步研究食品添加剂暴露对 IBD 病程的影响:12619001500145.
{"title":"A pilot randomized controlled trial investigating the effects of an anti-inflammatory dietary pattern on disease activity, symptoms and microbiota profile in adults with inflammatory bowel disease.","authors":"Abigail Marsh, Veronique Chachay, Merrilyn Banks, Satomi Okano, Gunter Hartel, Graham Radford-Smith","doi":"10.1038/s41430-024-01487-9","DOIUrl":"https://doi.org/10.1038/s41430-024-01487-9","url":null,"abstract":"<p><strong>Background/objectives: </strong>There is a lack of certainty in dietary prescription for individuals with inflammatory bowel disease (IBD) due to heterogeneity in studies to date. The aim of this study was to investigate the efficacy on disease activity of a modified anti-inflammatory dietary pattern purposely designed to reduce intake of food additives (IBD-MAID), compared to standard care, in adults with IBD.</p><p><strong>Subject/methods: </strong>Adults with IBD were randomised to IBD-MAID (meals provided) [n = 29] or general healthy eating (GHE) [n = 29] for 8 weeks. Disease activity, faecal calprotectin (FC), C-reactive protein (CRP), symptoms, and quality of life (S&QOL) were assessed using validated tools.</p><p><strong>Results: </strong>The IBD-MAID was well tolerated and adhered to (92% adherence). At week 8, there was no statistically significant difference in change from baseline in outcome measures between groups. However, baseline to week 8 analysis indicated: (1) statistically significant improvements in S (p = 0.001) & QOL (p = 0.004), FC (p = 0.007), and Crohn's disease activity (p = 0.03) but not ulcerative colitis, in individuals following the IBD-MAID and (2) statistically significant improvement in QOL in individuals receiving GHE (p = 0.015). Correlation analysis on change from baseline to week 8 revealed a greater decrease in food additives intake was associated with statistically significant improvements in FC, S & QOL and alignment of anti-inflammatory dietary principles with improvements in QOL.</p><p><strong>Conclusion: </strong>The IBD-MAID was well tolerated. The most novel finding pertains to the correlation between reduced food additives intake and improvements in inflammatory markers, S&QOL. Further research is needed to explore the effects of food additives exposure on IBD course.</p><p><strong>Trial registration: </strong>12619001500145.</p>","PeriodicalId":11927,"journal":{"name":"European Journal of Clinical Nutrition","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-10DOI: 10.1038/s41430-024-01490-0
Andrea Zovi, Carlo Cifani, Corrado Confalonieri, Ruggero Lasala, Michela Sabbatucci, Antonio Vitiello, Sauro Vittori
Background: Glut-1 deficiency Syndrome (GLUT-1 DS) is a rare disease caused by a mutation in the SLC2A1 gene that codes for the glucose transporter protein GLUT-1 DS. Currently, there is no indicated drug therapy for this condition and ketogenic diet (KD) is the most effective remedy to treat it.
Objective: The objective of this study was to review the published literature that evaluated the effectiveness of KD in the dietary management of GLUT-1 DS syndrome, describing the state-of-the-art the treatment pathway for patients with GLUT-1 DS syndrome in light of the current European regulatory framework within the National Health Services.
Methods: The literature search was carried out on September 10, 2023, and all studies conducted in humans diagnosed with GLUT-1 deficiency syndrome and treated with KD were included.
Results: A total of 156 scientific papers have been extracted. Applying the exclusion criteria, 38 articles have been considered eligible. In 29 out of 38 studies, the main outcome for determining the efficacy of KD was the measurement of the number of epileptic seizures, demonstrating that patients treated with KD experienced improvements with a clear reduction in the number of epileptic attacks. Currently, in the European Union, only one country provides full reimbursement by the national health system for KD.
Discussion: Although they are crucial for the treatment of GLUT-1 DS, according with current food regulations, KD are not evaluated on the basis of an unambiguous efficacy result, but only on the basis of safety. As a result, it is desirable to carry out clinical studies in the coming years based on the determination of efficacy in target populations, also in view of the marketing of these products on the European market.
{"title":"Dietary management and access to treatment for patients with glucose deficiency syndrome type 1: an overview review with focus on the European regulatory framework.","authors":"Andrea Zovi, Carlo Cifani, Corrado Confalonieri, Ruggero Lasala, Michela Sabbatucci, Antonio Vitiello, Sauro Vittori","doi":"10.1038/s41430-024-01490-0","DOIUrl":"10.1038/s41430-024-01490-0","url":null,"abstract":"<p><strong>Background: </strong>Glut-1 deficiency Syndrome (GLUT-1 DS) is a rare disease caused by a mutation in the SLC2A1 gene that codes for the glucose transporter protein GLUT-1 DS. Currently, there is no indicated drug therapy for this condition and ketogenic diet (KD) is the most effective remedy to treat it.</p><p><strong>Objective: </strong>The objective of this study was to review the published literature that evaluated the effectiveness of KD in the dietary management of GLUT-1 DS syndrome, describing the state-of-the-art the treatment pathway for patients with GLUT-1 DS syndrome in light of the current European regulatory framework within the National Health Services.</p><p><strong>Methods: </strong>The literature search was carried out on September 10, 2023, and all studies conducted in humans diagnosed with GLUT-1 deficiency syndrome and treated with KD were included.</p><p><strong>Results: </strong>A total of 156 scientific papers have been extracted. Applying the exclusion criteria, 38 articles have been considered eligible. In 29 out of 38 studies, the main outcome for determining the efficacy of KD was the measurement of the number of epileptic seizures, demonstrating that patients treated with KD experienced improvements with a clear reduction in the number of epileptic attacks. Currently, in the European Union, only one country provides full reimbursement by the national health system for KD.</p><p><strong>Discussion: </strong>Although they are crucial for the treatment of GLUT-1 DS, according with current food regulations, KD are not evaluated on the basis of an unambiguous efficacy result, but only on the basis of safety. As a result, it is desirable to carry out clinical studies in the coming years based on the determination of efficacy in target populations, also in view of the marketing of these products on the European market.</p>","PeriodicalId":11927,"journal":{"name":"European Journal of Clinical Nutrition","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-10DOI: 10.1038/s41430-024-01488-8
Rianne van Lieshout, Lidwine W Tick, Erik A M Beckers, Willemijn Biesbroek, Jeanne P Dieleman, Myrthe Dijkstra, Wanda Groenesteijn, Harry R Koene, Suzanne Kranenburg, Debbie van der Lee, Liesbeth van der Put-van den Berg, Nicky Rademakers, Josien C Regelink, Claudia J van Tilborg, Peter E Westerweel, Sandra de Zeeuw, Harry C Schouten, Sandra Beijer
Background/objectives: Patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) often receive medical nutrition therapy (MNT) during intensive remission-induction treatment. Since little is known about changes in nutritional status, specifically body composition, in this patient population, these changes and their associations with physical and clinical outcomes were assessed.
Subjects/methods: In this multicenter prospective observational study, newly diagnosed AML/MDS patients who received intensive remission-induction chemotherapy, routine dietary counseling by a dietician and MNT immediately upon inadequate nutritional intake, were included. At treatment initiation and discharge, nutritional status, including Patient-Generated Subjective Global Assessment (PG-SGA)-scores and body composition, physical outcomes and fatigue were assessed. Associations of nutritional status/body composition with physical outcomes, fatigue, fever duration, number of complications, time to neutrophil engraftment and hospital length of stay (LOS) (collected from medical records) were examined using multiple regression analysis.
Results: In >91% of the 126 AML/MDS patients included, nutritional intake was adequate, with 61% receiving MNT. Nevertheless, body weight decreased significantly (p < 0.001) and mainly consisted of a loss of muscle/fat-free mass (FFM) (p < 0.001), while fat mass (FM) remained unchanged (p-value range = 0.71-0.77). Body weight and waist circumference showed significant negative associations with fever duration and/or number of complications. Significant positive associations were found between mid-upper arm muscle circumference (MUAMC) and physical functioning and between PG-SGA-scores and fatigue. Body weight and MUAMC were also negatively associated with LOS.
Conclusion: Despite MNT in AML/MDS patients undergoing intensive chemotherapy, muscle/FFM decreased while FM remained unchanged. Maintenance of nutritional status was associated with improved physical and clinical outcomes.
{"title":"Changes in nutritional status and associations with physical and clinical outcomes in acute myeloid leukemia patients during intensive chemotherapy.","authors":"Rianne van Lieshout, Lidwine W Tick, Erik A M Beckers, Willemijn Biesbroek, Jeanne P Dieleman, Myrthe Dijkstra, Wanda Groenesteijn, Harry R Koene, Suzanne Kranenburg, Debbie van der Lee, Liesbeth van der Put-van den Berg, Nicky Rademakers, Josien C Regelink, Claudia J van Tilborg, Peter E Westerweel, Sandra de Zeeuw, Harry C Schouten, Sandra Beijer","doi":"10.1038/s41430-024-01488-8","DOIUrl":"10.1038/s41430-024-01488-8","url":null,"abstract":"<p><strong>Background/objectives: </strong>Patients with acute myeloid leukemia (AML) or myelodysplastic syndrome (MDS) often receive medical nutrition therapy (MNT) during intensive remission-induction treatment. Since little is known about changes in nutritional status, specifically body composition, in this patient population, these changes and their associations with physical and clinical outcomes were assessed.</p><p><strong>Subjects/methods: </strong>In this multicenter prospective observational study, newly diagnosed AML/MDS patients who received intensive remission-induction chemotherapy, routine dietary counseling by a dietician and MNT immediately upon inadequate nutritional intake, were included. At treatment initiation and discharge, nutritional status, including Patient-Generated Subjective Global Assessment (PG-SGA)-scores and body composition, physical outcomes and fatigue were assessed. Associations of nutritional status/body composition with physical outcomes, fatigue, fever duration, number of complications, time to neutrophil engraftment and hospital length of stay (LOS) (collected from medical records) were examined using multiple regression analysis.</p><p><strong>Results: </strong>In >91% of the 126 AML/MDS patients included, nutritional intake was adequate, with 61% receiving MNT. Nevertheless, body weight decreased significantly (p < 0.001) and mainly consisted of a loss of muscle/fat-free mass (FFM) (p < 0.001), while fat mass (FM) remained unchanged (p-value range = 0.71-0.77). Body weight and waist circumference showed significant negative associations with fever duration and/or number of complications. Significant positive associations were found between mid-upper arm muscle circumference (MUAMC) and physical functioning and between PG-SGA-scores and fatigue. Body weight and MUAMC were also negatively associated with LOS.</p><p><strong>Conclusion: </strong>Despite MNT in AML/MDS patients undergoing intensive chemotherapy, muscle/FFM decreased while FM remained unchanged. Maintenance of nutritional status was associated with improved physical and clinical outcomes.</p>","PeriodicalId":11927,"journal":{"name":"European Journal of Clinical Nutrition","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-09DOI: 10.1038/s41430-024-01486-w
Jing Wang, Yaoxian Xiang, Lihui Wu, Chan Zhang, Baojuan Han, Yurong Cheng, Yingying Tong, Dong Yan, Li Wang
Background: Sarcopenia is among the most common musculoskeletal illnesses, yet its underlying biochemical mechanisms remain incompletely understood. Identifying the relationship of inflammatory cytokines with sarcopenia components would help understand the etiology of sarcopenia. We performed a bi-directional Mendelian randomization study to explore the causal relationship between 41 inflammatory cytokines and sarcopenia-related traits.
Methods: The study was performed in two stages using bidirectional dual-sample Mendelian randomization. We obtained aggregated statistical data on inflammatory factors, low grip strength, and ALM from genome-wide association studies. To explore the causal association between exposure and outcomes, we primarily utilized the inverse variance weighted strategy. Furthermore, we conducted sensitivity analyses through the use of Mendelian randomization (MR) Egger, weighted median and simple mode methods. To evaluate robustness of the results and to identify and adjust for horizontal pleiotropy, we performed the MR Pleiotropy RESidual Sum and Outlier test, the MR Egger intercept test, and a leave-one-out analysis.
Results: The results displayed a potential association between interleukin-10 (OR: 1.046, 95% CI: 1.002-1.093, p = 0.042) and vascular endothelial growth factor (OR: 1.024, 95% CI: 1.001-1.047, p = 0.038) and the risk of low hand-grip strength. Moreover, interferon gamma-induced protein 10 (OR: 1.010, 95% CI: 1.000-1.019, p = 0.042) and macrophage colony-stimulating factor (OR: 1.010, 95% CI: 1.003-1.017, p = 0.003) were significantly linked to a higher risk of ALM.
Conclusion: We identified a causal relationship between multiple inflammatory factors and sarcopenia-related traits. Our study offers valuable insights into innovative methods for the sarcopenia prevention and treatment by regulating inflammatory factors.
{"title":"The association between inflammatory cytokines and sarcopenia-related traits: a bi-directional Mendelian randomization study.","authors":"Jing Wang, Yaoxian Xiang, Lihui Wu, Chan Zhang, Baojuan Han, Yurong Cheng, Yingying Tong, Dong Yan, Li Wang","doi":"10.1038/s41430-024-01486-w","DOIUrl":"https://doi.org/10.1038/s41430-024-01486-w","url":null,"abstract":"<p><strong>Background: </strong>Sarcopenia is among the most common musculoskeletal illnesses, yet its underlying biochemical mechanisms remain incompletely understood. Identifying the relationship of inflammatory cytokines with sarcopenia components would help understand the etiology of sarcopenia. We performed a bi-directional Mendelian randomization study to explore the causal relationship between 41 inflammatory cytokines and sarcopenia-related traits.</p><p><strong>Methods: </strong>The study was performed in two stages using bidirectional dual-sample Mendelian randomization. We obtained aggregated statistical data on inflammatory factors, low grip strength, and ALM from genome-wide association studies. To explore the causal association between exposure and outcomes, we primarily utilized the inverse variance weighted strategy. Furthermore, we conducted sensitivity analyses through the use of Mendelian randomization (MR) Egger, weighted median and simple mode methods. To evaluate robustness of the results and to identify and adjust for horizontal pleiotropy, we performed the MR Pleiotropy RESidual Sum and Outlier test, the MR Egger intercept test, and a leave-one-out analysis.</p><p><strong>Results: </strong>The results displayed a potential association between interleukin-10 (OR: 1.046, 95% CI: 1.002-1.093, p = 0.042) and vascular endothelial growth factor (OR: 1.024, 95% CI: 1.001-1.047, p = 0.038) and the risk of low hand-grip strength. Moreover, interferon gamma-induced protein 10 (OR: 1.010, 95% CI: 1.000-1.019, p = 0.042) and macrophage colony-stimulating factor (OR: 1.010, 95% CI: 1.003-1.017, p = 0.003) were significantly linked to a higher risk of ALM.</p><p><strong>Conclusion: </strong>We identified a causal relationship between multiple inflammatory factors and sarcopenia-related traits. Our study offers valuable insights into innovative methods for the sarcopenia prevention and treatment by regulating inflammatory factors.</p>","PeriodicalId":11927,"journal":{"name":"European Journal of Clinical Nutrition","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objectives: In population studies, iodine intake estimation relies on median urinary iodine concentration (UIC). However, interpreting UIC measurements can be challenging.
Methods: In our study, we included 772 adult participants from three groups: nationally representative gender-mixed, women of reproductive age, and pregnant women. We measured UIC and urinary creatinine (U-Cr) to calculate the iodine-to-creatinine ratio (I/Cr). U-Cr cut-off value of 0.226 g/L was used for differentiation between diluted and undiluted urine samples. After excluding samples below this cut-off, new median UIC and I/Cr ratios were calculated. We additionally evaluated the influence of urine sample collection time on UIC.
Results: Median UICs were 91.8 µg/L for nationally representative group, 58.3 µg/L for women of reproductive age, and 74.9 µg/L for pregnant women, while I/Cr ratios were 91.7, 102.0, and 159.2 µg/g, respectively. After implementing U-Cr cut-off and excluding all data where U-Cr was below cut-off, new median values were 93.4, 76.3, and 95.4 µg/L for UICs, and 88.6, 88.8, and 128.7 µg/g for I/Cr ratios, respectively. In women of reproductive age, median UIC was significantly lower in urine samples collected after 9:30 and after 12:00 as compared to samples collected before 9.30 (53.4, 57.8, and 97.3 μg/L, respectively).
Conclusions: UIC results should be interpreted with caution, considering urine dilution and sample collection timing. U-Cr measurement should be included in population-based iodine intake studies, with corrections applied especially for pregnant women and younger adults, for whom morning is best for single-spot samples.
{"title":"Interpreting urinary iodine concentration: effects of urine dilution and collection timing.","authors":"Adrijana Oblak, Maša Hribar, Hristo Hristov, Matej Gregorič, Urška Blaznik, Joško Osredkar, Anita Kušar, Katja Žmitek, Živa Lavriša, Tjaša Zaletel, Blaž Krhin, Igor Pravst, Simona Gaberšček, Katja Zaletel","doi":"10.1038/s41430-024-01492-y","DOIUrl":"https://doi.org/10.1038/s41430-024-01492-y","url":null,"abstract":"<p><strong>Objectives: </strong>In population studies, iodine intake estimation relies on median urinary iodine concentration (UIC). However, interpreting UIC measurements can be challenging.</p><p><strong>Methods: </strong>In our study, we included 772 adult participants from three groups: nationally representative gender-mixed, women of reproductive age, and pregnant women. We measured UIC and urinary creatinine (U-Cr) to calculate the iodine-to-creatinine ratio (I/Cr). U-Cr cut-off value of 0.226 g/L was used for differentiation between diluted and undiluted urine samples. After excluding samples below this cut-off, new median UIC and I/Cr ratios were calculated. We additionally evaluated the influence of urine sample collection time on UIC.</p><p><strong>Results: </strong>Median UICs were 91.8 µg/L for nationally representative group, 58.3 µg/L for women of reproductive age, and 74.9 µg/L for pregnant women, while I/Cr ratios were 91.7, 102.0, and 159.2 µg/g, respectively. After implementing U-Cr cut-off and excluding all data where U-Cr was below cut-off, new median values were 93.4, 76.3, and 95.4 µg/L for UICs, and 88.6, 88.8, and 128.7 µg/g for I/Cr ratios, respectively. In women of reproductive age, median UIC was significantly lower in urine samples collected after 9:30 and after 12:00 as compared to samples collected before 9.30 (53.4, 57.8, and 97.3 μg/L, respectively).</p><p><strong>Conclusions: </strong>UIC results should be interpreted with caution, considering urine dilution and sample collection timing. U-Cr measurement should be included in population-based iodine intake studies, with corrections applied especially for pregnant women and younger adults, for whom morning is best for single-spot samples.</p>","PeriodicalId":11927,"journal":{"name":"European Journal of Clinical Nutrition","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141906261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}