Annales Nestlé (English ed.)最新文献

Homeostatic Regulation of Iron and Its Role in Normal and Abnormal Iron Status in Infancy and Childhood 婴儿期和儿童期铁的稳态调节及其在正常和异常铁状态中的作用

Annales Nestlé (English ed.) Pub Date : 2010-11-01 DOI: 10.1159/000319669

B. Lönnerdal, O. Hernell

{"title":"Homeostatic Regulation of Iron and Its Role in Normal and Abnormal Iron Status in Infancy and Childhood","authors":"B. Lönnerdal, O. Hernell","doi":"10.1159/000319669","DOIUrl":"https://doi.org/10.1159/000319669","url":null,"abstract":"Iron is important in neurodevelopment and cognitive function, and globally preventing iron deficiency and iron deficiency anemia remains a high priority. Term breast-fed infants and infants fed an iron-fortified formula usually have a satisfactory iron status during the first 6 months of life, but there are still ambiguities in assessing iron status in infants and how to properly meet their iron requirements. This is particularly evident for preterm infants, who are born with low iron stores, and for whom recommendations for iron provision vary considerably. In part, this may be due to immaturity in the regulation of iron homeostasis in young infants. Whereas 9-month-old infants appear to be able to downregulate iron absorption when being iron replete, 6-month-old infants cannot do this. Iron may be provided as drops or in iron-fortified products, but the forms provided may be metabolized differently, and excess iron in drops may cause adverse effects, possibly due to a limited ability to regulate iron absorption in young infants. Adverse effects are manifested by decreased growth: in well-nourished infants by reduced gain in length, in poorly nourished populations by lower gain in weight. The mechanism behind the decreased growth is not known, but it may involve free radical-mediated effects of iron or an interaction with zinc absorption/homeostasis. It therefore seems that iron drops should not be given to iron-replete infants.","PeriodicalId":136112,"journal":{"name":"Annales Nestlé (English ed.)","volume":"3 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132223707","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}

引用次数: 10

Iron Deficiency in Childhood: Causes and Consequences for Child Development 儿童缺铁:儿童发育的原因和后果

Annales Nestlé (English ed.) Pub Date : 2010-11-01 DOI: 10.1159/000319670

S. Grantham‐McGregor, H. Baker-Henningham

{"title":"Iron Deficiency in Childhood: Causes and Consequences for Child Development","authors":"S. Grantham‐McGregor, H. Baker-Henningham","doi":"10.1159/000319670","DOIUrl":"https://doi.org/10.1159/000319670","url":null,"abstract":"The main causes of iron deficiency (ID) are briefly discussed, followed by the examination of studies of ID and child cognitive and motor development and behaviour for evidence of a causal link, classifying them by study design. Iron deficiency anaemia (IDA) is associated with many psychosocial and economic disadvantages that can affect child development and could explain the frequently demonstrated relationship between IDA and poor development and behavioural differences. There is evidence of changes to brain function in infants with IDA. Many treatment trials lack statistical power due to small samples, including children without ID in the sampling or iron treatment resulting in little or no differences in iron status between placebo and treated groups. In children with IDA under 3 years, randomized trials indicate that iron supplementation is usually beneficial to motor development, but the effect on mental development is inconsistent. Iron supplementation also has a beneficial effect on cognitive function in school-aged children with IDA. Evidence for a threshold level of ID at which child development is affected is inconsistent, but children with IDA are most likely to benefit from iron supplementation. Possible harmful effects of iron supplementation in iron-replete children on growth and morbidity have to be considered when developing programmes and policy.","PeriodicalId":136112,"journal":{"name":"Annales Nestlé (English ed.)","volume":"68 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129094189","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}

引用次数: 26

Efficacy and Safety of Iron Administration in Juvenile Populations 少年人群铁治疗的有效性和安全性

Annales Nestlé (English ed.) Pub Date : 2010-11-01 DOI: 10.1159/000319671

K. Schümann, N. Solomons

{"title":"Efficacy and Safety of Iron Administration in Juvenile Populations","authors":"K. Schümann, N. Solomons","doi":"10.1159/000319671","DOIUrl":"https://doi.org/10.1159/000319671","url":null,"abstract":"Infantile iron deficiency anemia (IDA) reduces maximal lifetime cognitive capacity and can threaten the life of an adolescent mother in childbirth. Administration of iron is a component of strategies for preventing or reversing iron deficiency (ID) and iron can be given parenterally or as oral supplements or fortified food. Safety issues can arise at the point of administration, i.e. in the gut lumen, and as a consequence of excessive iron stores arising from the interventions. Recent improvements in the pharmacology of parenteral iron compounds open the way to greater consideration of the intravenous route in pediatric therapy, and even public health. Oral iron supplementation, usually with folic acid, is the main treatment of IDA in the clinical setting. It is often combined with multiple micronutrients and is also used for resolution of severe anemia at the community level and for prophylaxis in the nonanemic population. Fortification of staple food (such as flour), or age-specific foods (infant formula, complementary foods) and beverages are the usual methods for ID prophylaxis. Special iron-rich preparations (powders, crushable tablets, edible spreads) are available for home fortification. Biofortification, i.e. enriching the iron content of crops during cultivation, is a novel approach, yet to be fully implemented or evaluated for children. Side effects and toxicity after oral iron intake are seen in the gut lumen. After oral and parenteral iron intake, the rise in circulating iron can increase the risk of complications from coexisting infections, notably with malaria, and when individual iron status is adequate. Growth impairment occurs with exposure of iron-sufficient children to iron interventions, so that targeting of iron to ID individuals seems advisable. Numerous adverse consequences from accumulation of excessive total body iron stores show up as a consequence of iron-mediated oxidative stress. Incomplete maturation of iron homoeostasis may permit higher iron absorption before 6 months of age.","PeriodicalId":136112,"journal":{"name":"Annales Nestlé (English ed.)","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"114874920","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}

引用次数: 4

Prevention of Iron Deficiency in Infancy, Childhood and Adolescence 预防婴幼儿、儿童和青少年缺铁

Annales Nestlé (English ed.) Pub Date : 2010-11-01 DOI: 10.1159/000319967

M. Andersson, R. Hurrell

{"title":"Prevention of Iron Deficiency in Infancy, Childhood and Adolescence","authors":"M. Andersson, R. Hurrell","doi":"10.1159/000319967","DOIUrl":"https://doi.org/10.1159/000319967","url":null,"abstract":"Iron deficiency (ID) is prevalent in infants, children and adolescents worldwide due to their high iron requirements during growth, low dietary iron intake and low-bioavailability diet. Low iron status is associated with adverse health consequences throughout childhood. Prevention measures should be initiated early and include iron supplementation of pregnant women, delayed cord clamping at delivery and exclusive breast-feeding for 6 months. Iron needs to increase sharply after the first 4–6 months of life and high iron content of complementary foods is critical. Iron fortification of infant formulas and infant cereals, addition of micronutrient powders to home-prepared complementary foods, or provision of iron drops are the most effective prevention strategies in weaning infants, but early introduction of meat and delayed introduction of cow’s milk are also important. Prevention strategies in older children involve dietary approaches which increase iron content and bioavailability of the diet, and consumption of iron-fortified foods. In areas of extensive ID, iron supplementation may be required. If malaria is prevalent, large supplementation doses should only be given to children with confirmed ID. All interventions to control pediatric ID should be integrated into larger national and global health programs for pregnant women and children, including health education, malaria prevention and deworming. The impact of ID prevention strategies on iron status and the prevalence of ID should be monitored by measuring iron status periodically in the population.","PeriodicalId":136112,"journal":{"name":"Annales Nestlé (English ed.)","volume":"11 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"129966212","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}

引用次数: 7

Neuropsychological Functioning in Early-Treated Phenylketonuria – A Review 早期治疗苯丙酮尿症的神经心理功能综述

Annales Nestlé (English ed.) Pub Date : 2010-06-01 DOI: 10.1159/000312815

L. Crossley, P. Anderson

{"title":"Neuropsychological Functioning in Early-Treated Phenylketonuria – A Review","authors":"L. Crossley, P. Anderson","doi":"10.1159/000312815","DOIUrl":"https://doi.org/10.1159/000312815","url":null,"abstract":"Phenylketonuria (PKU) is an inborn error of metabolism involving a deficiency of the enzyme phenylalanine hydroxylase. This condition results in elevated levels of phenylalanine and low levels of tyrosine. If left untreated, severe neuropathology and neurobehavioral sequelae manifest. The implementation of newborn screening and early dietary treatment has significantly reduced such morbidity. Despite relatively preserved general intellectual functioning, in early-treated PKU individuals subtle cognitive and behavioral deficits are still apparent. This paper provides a review of the evidence for impairment in information processing, executive function, memory and learning, academic achievement and behavior. This paper also reviews the two primary theories proposed to date relating to the underlying mechanisms for the cognitive and behavioral deficits encountered in treated PKU patients, namely prefrontal dysfunction and white matter abnormalities. Although more research is required, the literature to date suggests that early-treated PKU individuals are at risk of subtle neurobehavioral deficits across a range of neuropsychological domains. Thus, PKU patients should be closely monitored so that problems are detected early and appropriate interventions are put in place to ensure that individuals reach their full potential.","PeriodicalId":136112,"journal":{"name":"Annales Nestlé (English ed.)","volume":"4 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134192191","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}

引用次数: 2

Title Page / Table of Contents / Policy Statement 标题页/目录/政策声明

Annales Nestlé (English ed.) Pub Date : 2010-06-01 DOI: 10.1159/000317508

引用次数: 0

Screening for Phenylketonuria 苯丙酮尿筛查

Annales Nestlé (English ed.) Pub Date : 2010-06-01 DOI: 10.1159/000312812

Olaf A. Bodamer

{"title":"Screening for Phenylketonuria","authors":"Olaf A. Bodamer","doi":"10.1159/000312812","DOIUrl":"https://doi.org/10.1159/000312812","url":null,"abstract":"Newborn screening for phenylketonuria (PKU) started with Robert Guthrie (1916–1995) who developed the bacterial inhibition test for the semiquantitative analysis of phenylalanine, which was the first test suitable for high throughput analysis. In addition, he introduced the ‘Guthrie filter card’ as a transport medium for dried blood which is still used today. Realizing the potential of his approach for early diagnosis and the fact that a low-phenylalanine diet prevented the neurological sequelae of untreated PKU, Robert Guthrie became the first and utmost advocate of newborn screening for PKU. Following the first PKU newborn screening program in Buffalo, N.Y., USA, in the 1960s, additional newborn screening programs were initiated around the world in the 1960s and 1970s. Newborn screening has since been recognized as an important public health measure, and most countries have ongoing newborn screening programs for PKU and other inborn errors of metabolism. Since the first programs, it has been recognized that early diagnosis of PKU and subsequent initiation of a low phenylalanine diet results in normal neurological outcomes – in contrast to the severe mental retardation in untreated PKU. Today’s newborn screening laboratories use photometric assays or tandem mass spectrometry for analysis of phenylalanine rather than the bacterial inhibition test. This has led to an increased number of cases with hyperphenylalaninemia that often do not require dietary treatment. Any elevated phenylalanine level in a neonate needs to be followed by a second specimen for repeat analysis of phenylalanine and tyrosine. Confirmation of elevated phenylalanine levels with low to normal tyrosine levels requires analysis of urine pterines and dihydropterine reductase activity in red cells to rule out an inborn error of biopterin metabolism. In any neonate whose blood phenylalanine levels exceed 6 mg/dl, a tetrahydrobiopterin loading test should be performed and dietary therapy should be initiated. The level at which dietary therapy is started may be different between the USA, UK and continental Europe.","PeriodicalId":136112,"journal":{"name":"Annales Nestlé (English ed.)","volume":"74 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115271722","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}

引用次数: 10

Novel Approaches to the Therapy of Phenylketonuria 苯丙酮尿症治疗的新方法

Annales Nestlé (English ed.) Pub Date : 2010-06-01 DOI: 10.1159/000312814

R. Eavri, H. Lorberboum-Galski

{"title":"Novel Approaches to the Therapy of Phenylketonuria","authors":"R. Eavri, H. Lorberboum-Galski","doi":"10.1159/000312814","DOIUrl":"https://doi.org/10.1159/000312814","url":null,"abstract":"Since its discovery by Følling in 1934, phenylketonuria (PKU) has been the subject of numerous research studies spanning many disciplines including human genetics, biochemistry, development, neurobiology and others. During the last 75 years, different mutations in the genes responsible for the disease have been mapped, the biochemical basis has been elucidated and the flawed mechanisms leading to the clinical outcome have been revealed. Moreover, the newborn screening programs based on the Guthrie test and the subsequent biochemical analysis in newborn children, in addition to the low-protein diet, have all made a tremendous impact on the way inherited inborn errors of metabolism have been looked upon in these modern times. In fact, this simple yet most effective treatment for PKU – the low-protein diet – is considered a breakthrough in treatment of the disease enabling the retention of low levels of phenylalanine in the blood, thus preventing the high and persistent phenylalanine levels from damaging normal brain development. However, despite the simplicity and high effectiveness of the low-protein diet treatment, the incompliance of some PKU patients and the consequences that are associated with it have led scientists to constantly seek new and alternative methods for treatment. In this review, we discuss major advances in PKU therapy, including suggested new cures. We remain optimistic that one or more of the potential cures reviewed here will evolve into future medications for PKU patients.","PeriodicalId":136112,"journal":{"name":"Annales Nestlé (English ed.)","volume":"209 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116155506","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}

引用次数: 1

Molecular Basis of Phenylketonuria: From Genotype to Clinical Management 苯丙酮尿的分子基础:从基因型到临床管理

Annales Nestlé (English ed.) Pub Date : 2010-06-01 DOI: 10.1159/000312811

J. Zschocke

{"title":"Molecular Basis of Phenylketonuria: From Genotype to Clinical Management","authors":"J. Zschocke","doi":"10.1159/000312811","DOIUrl":"https://doi.org/10.1159/000312811","url":null,"abstract":"In the age of neonatal screening and the presymptomatic treatment of individuals with phenylketonuria, disease definition has shifted from a set of clinical symptoms observed in untreated patients to an inherited predisposition that requires dietary intervention to avoid brain damage and intellectual impairment. The analysis of correlations between genotype and phenotype must thus be targeted to the need and modalities of preventive treatment. In phenylketonuria, mutation analysis is not a prerequisite to correct diagnosis and therapy including treatment with the cofactor tetrahydrobiopterin (BH4). Nevertheless, the functional impact of individual mutations has been extensively investigated over the last years, and there are well-studied correlations between the genotype and various phenotypic aspects. Knowing and understanding the genotype at a very early stage often allows a prediction of the severity of phenylalanine hydroxylase deficiency and provides a better picture of the disease characteristics in the individual patient. This may assist in the clinical management. Identification of homozygosity or compound heterozygosity for null mutations indicates that this patient will not benefit from BH4 treatment, whilst identification of a well-known BH4-sensitive mutation in a patient who has been classified as non-responsive in a BH4 test should be an indication to re-examine the classification and, if necessary, repeat the test. Care must be taken to recognize potential errors in the results of molecular studies, and to interpret them in relation to clinical and biochemical findings in the individual.","PeriodicalId":136112,"journal":{"name":"Annales Nestlé (English ed.)","volume":"29 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2010-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116830181","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}

引用次数: 1

Title Page / Table of Contents / Policy Statement 标题页/目录/政策声明

Annales Nestlé (English ed.) Pub Date : 2010-05-01 DOI: 10.1159/000315694

Maria Makrides

引用次数: 0