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1.
Eur J Nutr ; 54(7): 1045-54, 2015 Oct.
Article in English | MEDLINE | ID: mdl-25341394

ABSTRACT

PURPOSE: Besides the adverse health effects of a low folate intake, the risks of high intakes of folic acid have moved into the focus. The aim of this study was to investigate the potential range of folate and folic acid intake of the German population under consideration of different fortification scenarios. METHODS: Food consumption data of 13,926 participants of the German National Nutrition Survey II (NVS II), collected with two 24-h recalls, were used to calculate the nutrient intake. The nutrient data are based on the German Nutrient Database (BLS), information from a market survey and analyses of multivitamin juices. The scenarios were modelled without, as well as with low and high fortification levels of folic acid. RESULTS: The median intake of dietary folate equivalents ranged from 191 µg/d (men) and 168 µg/d (women) without fortification to 425 µg/d (men) and 334 µg/d (women) in the highest fortification scenario. Thus, 12.4-68.2% (men) and 5.9-56.1% (women) met the 300 µg/d recommended by the nutrition societies of Germany, Austria and Switzerland. In the highest fortification scenario, 1.9% (men) and 0.8% (women) exceeded the tolerable upper intake level (UL) of 1,000 µg/d folic acid given by the European Food Safety Authority. For supplement users, this proportion was 5.2 and 5.4%. CONCLUSIONS: Only a high fortification of several foods leads to a marked increase of the proportion of population reaching the recommendation. Simultaneously, with a high fortification a higher proportion exceeds the UL, especially in combination with supplements.


Subject(s)
Folic Acid/administration & dosage , Food, Fortified , Adolescent , Adult , Aged , Aged, 80 and over , Austria , Dietary Supplements , Female , Germany , Humans , Male , Mental Recall , Middle Aged , Nutrition Surveys , Recommended Dietary Allowances , Switzerland , Young Adult
2.
Food Chem ; 159: 122-7, 2014 Sep 15.
Article in English | MEDLINE | ID: mdl-24767034

ABSTRACT

Folic acid (FA) concentrations of nine fortified vitamin juices were determined with the aim to study the FA degradation and to investigate the deviation from the declared label value. The juices were received shortly after bottling and were analyzed monthly during controlled storage conditions (light and dark) over one year. The analyses were performed by HPLC-MS/MS, which included a fast "dilute and shoot" sample preparation. Average decreases in FA concentration of 46% were observed after one year. Fresh juices (shortly after bottling) showed the highest deviations from the declared label value (up to+89%). Label values did not reflect the actual concentration of FA in these products, making it difficult to determine the intake of this vitamin.


Subject(s)
Folic Acid/chemistry , Food Storage , Food, Fortified/analysis , Vitamins/chemistry , Chromatography, High Pressure Liquid , Folic Acid/analysis , Tandem Mass Spectrometry
3.
Eur J Haematol ; 82(2): 112-8, 2009 Feb.
Article in English | MEDLINE | ID: mdl-19067742

ABSTRACT

BACKGROUND AND OBJECTIVE: The characteristic chromosomal translocation t(9;22)(q34;q11) in chronic myeloid leukaemia (CML) mainly results in the two different BCR/ABL fusion transcripts b2a2 or b3a2. Both transcript variants can occur simultaneously due to alternative splicing of the b3a2 transcript. Conflicting results have been reported on the influence of the transcripts on haematological findings at diagnosis and the course of the disease in adults while data concerning these topics on childhood CML are still missing. This paper reports on a correlation of BCR/ABL transcript variants with patients' characteristics in childhood CML. DESIGN AND METHODS: Transcript types were determined in 146 paediatric patients with CML enrolled in trial CML-paed-I. Fifty-five patients (38%) expressed b2a2, 53 patients (36%) b3a2 and 38 patients (26%) both transcripts, respectively. These findings were correlated with patients' characteristics (sex, age, WBC, Hb, platelet count, hepatosplenomegaly, etc.) assessed at diagnosis. RESULTS: While the co-expression of both transcripts was evenly distributed among genders [b2a2 + b3a2: 22 females (28%), 16 males (24%)] a highly significant difference (P = 0.007) was found concerning the expression of the b2a2 transcript [34 male (51%) vs. 21 female (27%)] and vice versa of the b3a2 transcript [17 male (25%) vs. 36 female (45%)]. High platelet counts and the combination of high platelet counts in conjunction with pronounced leukocytosis were observed more often in patients expressing the b3a2 transcript. CONCLUSIONS: These findings demonstrate that in children like in adults specific BCR/ABL transcript types present at diagnosis are associated with distinct haematological alterations (e.g. a high platelet count with the transcript b3a2). However, the sex-dependent skewed distribution of the BCR/ABL transcript types observed so far in this paediatric cohort only deserves further investigation.


Subject(s)
Genes, abl , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , RNA, Messenger/genetics , Adolescent , Base Sequence , Child , Child, Preschool , Chromosome Banding , Cohort Studies , DNA Primers , Female , Humans , Infant , Male , Young Adult
4.
Circulation ; 107(10): 1390-5, 2003 Mar 18.
Article in English | MEDLINE | ID: mdl-12642359

ABSTRACT

BACKGROUND: Muscle LIM protein (MLP) is an essential nuclear regulator of myogenic differentiation. Additionally, it may act as an integrator of protein assembly of the actin-based cytoskeleton. MLP-knockout mice develop a marked cardiac hypertrophy reaction and dilated cardiomyopathy (DCM). MLP is therefore a candidate gene for heritable forms of hypertrophic cardiomyopathy (HCM) and DCM in humans. METHODS AND RESULTS: We analyzed 1100 unrelated individuals (400 patients with DCM, 200 patients with HCM, and 500 controls) for mutations in the human CRP3 gene that encodes MLP. We found 3 different missense mutations in 3 unrelated patients with familial HCM but detected no mutation in the DCM group or the controls. All mutations predicted an amino acid exchange at highly conserved residues in the functionally important LIM1 domain, which is responsible for interaction with alpha-actinin and with certain muscle-specific transcription factors. Protein-binding studies indicate that mutations in the CRP3 gene lead to a decreased binding activity of MLP to alpha-actinin. All 3 index patients were characterized by typical asymmetrical septal hypertrophy. Family studies revealed cosegregation of clinically affected individuals with the respective mutations in MLP. CONCLUSION: Here, we present evidence that mutations in the CRP3/MLP gene can cause HCM.


Subject(s)
Cardiomyopathy, Hypertrophic/genetics , Genetic Predisposition to Disease , Muscle Proteins/genetics , Mutation, Missense , Actinin/metabolism , Adolescent , Adult , Aged , Amino Acid Sequence , Cardiomyopathy, Hypertrophic/diagnosis , Family Health , Female , Humans , LIM Domain Proteins , Male , Middle Aged , Models, Molecular , Molecular Sequence Data , Muscle Proteins/chemistry , Muscle Proteins/metabolism , Pedigree , Protein Structure, Tertiary , Sequence Alignment
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