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The adequate intake of dietary fibres is essential to human health. Hence, this work intended to evaluate the level knowledge of about food fibres and investigate what factors might be associated with it. It was undertaken a descriptive cross-sectional study on a sample composed of 6,010 participants from ten different countries. The survey was based on a questionnaire of self-response, approved and complying with all ethical issues. The data collected were subjected to factor analysis and cluster analysis techniques. Validation was made by splitting the data set into two equal parts for confirmation of the results. Factor analysis allowed concluding that ten from the 12 variables used to measure the knowledge about dietary fibre should be grouped into two dimensions or factors: one linked to health effects of dietary fibre (α =0.854) and the other to its sources (α =0.644). Cluster analysis showed that the participants could be divided into three groups: Cluster 1 – Good knowledge both about sources and health effects of dietary fibre; Cluster 2 – Good knowledge about the sources of dietary fibre but poor knowledge about its health effects; Cluster 3 – Poor knowledge both about sources and health effects of dietary fibre. The data was appropriate for analysis by means of factor and cluster analysis, so that two factors and three clusters were clearly identified. Moreover, the cluster membership was found varying mostly according to country, living environment and level of education but not according to age or gender. info:eu-repo/semantics/publishedVersion

Poor diets have proven very detrimental for the maintenance of good health and eating an excessive amount of fast food and highly processed meals can harm the general health status of the population. Hence, this work investigates the habits related to eating outside the home and frequency of eating fast food meals in participants from six different countries. A cross-sectional descriptive study was undertaken on a sample of 4,904 adult participants. For the data treatment, basic statistics were complemented with tree classification analysis, using the CRT algorithm. This study concluded that in the sample under study the frequency of eating out of home was in general low, corresponding to four or fewer times per week for 71.9% of the participants, and the consumption of fast food meals was also acceptable, i.e., with a low frequency of up to two times per week in 88.6% of the respondents. The biggest differences were encountered when comparing participants from different age groups, countries or sexes, and not so much for living environment or education level. Tree classification analysis highlighted the relative importance of the considered factors for eating out and fast food meals, being country and age confirmed as the most influential factors. In the evaluated sample the incidence of eating out and fast food meals were low, which is a good indicator to contribute globally for the good health status of the participants involved in the study. info:eu-repo/semantics/publishedVersion

Introduction: The ingestion of fruits, vegetables and cereals, especially whole grain, is associated with a healthy lifestyle and has been recognized as having multiple health benefits, associated, among others, to the ingestion of adequate amounts of dietary fibre. Objective: The aim of this work was to evaluate some eating habits related to fibre rich foods in six different countries: Argentina, Croatia, Hungary, Latvia, Portugal and Romania. Methods: A cross-sectional descriptive study was carried out by means of questionnaire survey applied to a sample of 4905 participants, all over the age of 18 years old. The preparation and application of the questionnaire followed the necessary ethical guidelines and the treatment was made by SPSS. Results: The results showed that for the global sample was observed a low ingestion of salads and vegetables (78.2%), being this particularly problematic for Croatia (86.6%). Regarding the consumption of fruits, for the whole sample the great majority also showed a low consumption (92.3%), and for Latvian participants the percentage is very much expressive (98.3%). As for the consumption of whole cereals, most participants also showed a low consumption, either for the global sample (72.6%) or in the different countries, and particularly for Latvia (90.0%). Some eating habits were also studied and it was observed that for the whole sample 71.9% showed a low frequency of meals ate out of home, while 88.6% revealed acceptable frequency of eating fast food, i.e, only once or twice a week. Conclusions: The results indicated that in the countries at study the ingestion of foods rich in dietary fibre is very low, and therefore it is necessary to implement strategies to increase the consumption of such foods. info:eu-repo/semantics/publishedVersion

Introduction: Dietary fibre (DF) is recognized as healthy for long, so that health claims are allowed by the European Food Safety Authority (EFSA) due to its proved benefits, extended but not only confined to many diseases of the gastrointestinal tract. Objective: This work intended to analyse the level of information about DF in 10 countries, situated in Europe, Africa and South America. Methods: A descriptive cross-sectional study was undertaken through a survey based on a questionnaire of self-response applied to a sample of 6010 participants. The data were lately treated by factor and cluster analyses, including validation methodologies. Results: Factor analysis showed that ten of the twelve items used to assess the knowledge about DF could be arranged into two factors: one related to health effects (α =0.854) and the other to the sources (α =0.644). Furthermore, cluster analysis showed that the participants could be divided into three groups: 1) Good knowledge about sources and health effects of DF; 2) Good knowledge about the sources of DF but poor knowledge about the health effects; 3) Poor knowledge about the sources and health effects of DF. Conclusions: The results clearly allowed identifying two factors and three clusters, and the variables that most influenced cluster membership were country, living environment and level of education. info:eu-repo/semantics/publishedVersion

Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analyzed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian and 7 Serbian patients (43 M/1 F) were included in the study (median age 11.0 years, range 1.2-43 years). Birth prevalence ranged from 1:69, 223 (Serbia) to 1:192, 626 (Czech Rep.). In the majority of patients (71%), the disease manifested in infancy. Cognitive functions were normal in 10 patients. Four, six and 24 patients had mild, moderate, and severe developmental delay, respectively, typically subsequent to developmental regression (59%). Residual enzyme activity showed no predictive value, and estimation of glycosaminoglycans (GAGs) had only limited importance for prognosis. Mutation analysis performed in 36 families led to the identification of 12 novel mutations, eight of which were small deletions/insertions. Large deletions/rearrangements and all but one small deletion/insertion led to a severe phenotype. This genotype-phenotype correlation was also identified in six cases with recurrent missense mutations. Based on patient genotype, the severity of the disease may be predicted with high probability in approximately half of MPS II patients.

BACKGROUND AND AIM: To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impact on the disease course allowing harmonisation. METHODS: Datasets of 567 OAD patients from the E-IMD registry were analysed. The sample includes patients with methylmalonic (MMA, n = 164), propionic (PA, n = 144) and isovaleric aciduria (IVA, n = 83), and glutaric aciduria type 1 (GA1, n = 176). Statistical analysis included description and recursive partitioning of diagnostic and therapeutic strategies, and odds ratios (OR) for health outcome parameters. For some analyses, symptomatic patients were divided into those presenting with first symptoms during (i.e. early onset, EO) or after the newborn period (i.e. late onset, LO). RESULTS: Patients identified by newborn screening (NBS) had a significantly lower median age of diagnosis (8 days) compared to the LO group (363 days, p

To gain better insight in the most current diagnosis and treatment practices for phenylketonuria (PKU) from a broad group of experts, a European PKU survey was performed. The questionnaire, consisting of 33 questions, was sent to 243 PKU professionals in 165 PKU centers in 23 European countries. The responses were compiled and descriptive analyses were performed. One hundred and one questionnaires were returned by 93/165 centers (56%) from 19/23 European countries (83%). The majority of respondents (77%) managed patients of all age groups and more than 90% of PKU teams included physicians or dieticians/nutritionists. The greatest variability existed especially in the definition of PKU phenotypes, therapeutic blood phenylalanine (Phe) target concentrations, and follow-up practices for PKU patients. The tetrahydrobiopterin (BH4 ; sapropterin) loading test was performed by 54% of respondents, of which 61% applied a single dose test (20mg/kg over 24h). BH4 was reported as a treatment option by 34%. This survey documents differences in diagnostic and treatment practices for PKU patients in European centers. In particular, recommendations for the treatment decision varied greatly between different European countries. There is an urgent need to pool long-term data in PKU registries in order to generate an evidence-based international guideline. Copyright (c) 2009 Elsevier Inc. All rights reserved.

Background: Inherited neurometabolic disorders (iNMDs) represent a group of almost seven hundred rare diseases whose common manifestations are clinical neurologic or cognitive symptoms that can appear at any time, in the first months/years of age or even later in adulthood. Early diagnosis and timely treatments are often pivotal for the favorable course of the disease. Thus, the elaboration of new evidence-based recommendations for iNMD diagnosis and management is increasingly requested by health care professionals and patients, even though the methodological quality of existing guidelines is largely unclear. InNerMeD-I-Network is the first European network on iNMDs that was created with the aim of sharing and increasing validated information about diagnosis and management of neurometabolic disorders. One of the goals of the project was to determine the number and the methodological quality of existing guidelines and recommendations for iNMDs. Methods: We performed a systematic search on PubMed, the National Guideline Clearinghouse (NGC), the Guidelines International Network (G-I-N), the Scottish Intercollegiate Guideline Network (SIGN) and the National Institute for Health and Care Excellence (NICE) to identify all the published guidelines and recommendations for iNMDs from January 2000 to June 2015. The methodological quality of the selected documents was determined using the AGREE II instrument, an appraisal tool composed of 6 domains covering 23 key items. Results: A total of 55 records met the inclusion criteria, 11 % were about groups of disorders, whereas the majority encompassed only one disorder. Lysosomal disorders, and in particular Fabry, Gaucher disease and mucopolysaccharidoses where the most studied. The overall methodological quality of the recommendation was acceptable and increased over time, with 25 % of the identified guidelines strongly recommended by the appraisers, 64 % recommended, and 11 % not recommended. However, heterogeneity in the obtained scores for each domain was observed among documents covering different groups of disorders and some domains like 'stakeholder involvement' and 'applicability' were generally scarcely addressed. Conclusions: Greater efforts should be devoted to improve the methodological quality of guidelines and recommendations for iNMDs and AGREE II instrument seems advisable for new guideline development. The elaboration of new guidelines encompassing still uncovered disorders is badly needed.

Background and objectives: Adequate vitamin B12 status is necessary for many biological functions in the body. It is well known that patents with untreated celiac disease have low serum vitamin B12. However, inadequate serum vitamin B12 was also observed among celiac patients adhering gluten-free diet. Since gluten-free diet excludes only plant origin foods which contain gluten, the food of animal origin, as a good dietary source of vitamin B12, should not be reduced in celiac patients on a gluten free diet. The aim of this study is to determine vitamin B12 intake and it’s correlation with vitamin B12 status in celiac patients adhering gluten-free diet. Methods: The survey was carried out on a 33 celiac patients (19-69 years) adhering gluten-free diet in average 8.9 years, who were not taking vitamin B supplements. Vitamin B12 intake was calculated based on a seven-day food record using food composition tables. Fasting venous blood samples were drawn from all subjects to determine serum Vitamin B12 concentration by radioimmunoassay. Results: Median intake of vitamin B12 was 3.3 µg/day and in all subjects exceeded 100 % EAR (102-597 % EAR). Although none of the subjects had inadequate vitamin B12 intake suboptimal status of vitamin B12 (

The high-affinity carnitine (Cn) transporter defect is a potentially lethal, autosomal recessive disorder characterised by progressive infantile-onset cardiomyopathy, weakness, and recurrent hypoglycaemic hypoketotic coma, and is highly responsive to L-Cn tx. Molecular analysis of the SLC22A5 (OCTN2) gene, encoding the high-affinity Cn transporter, was done in 11 affected individuals by direct nucleotide sequencing of PCR products from all ten exons. Cn uptake (at Km of 5 µM) in cultured skin fibroblasts ranged from 1 to 20% of normal controls. Elven mutations (delF23, N32S and one 11 bp-duplication in exon 1; R169W in exon 3; a donor splice site mutation (IVS3 + 1 G>A) in intron 3; frameshift mutations in exons 5 and 6; Y401X in exon 7; T440M, T468R and S470F in exon 8) were found. There was also no correlation between residual uptake and severity of clinical presentation suggesting that the wide phenotype variability is likely to exogenous stressors exacerbating Cn deficiency. Cn tx from birth prevents the clinical phenotype.

Childhood onset proximal spinal muscular atrophy presents with considerable clinical variability. This study included 14 Croatian children aged 11 days to 8 years with spinal muscular atrophy types I-III verified clinically and electromyoneurographically. DNA of affected children was screened for deletions of exons 7 and 8 of the survival motor neuron gene and for deletion of exon 5 of the neuronal apoptosis inhibitor protein gene. Motor nerve conduction velocity and compound muscle action potential amplitude were decreased in children with spinal muscular atrophy type I and II. Deletions of exons 7 and 8 of the survival motor neuron gene and of exon 5 of the neuronal apoptosis inhibitor protein gene in children with spinal muscular atrophy type I-II suggested existence of more genetic abnormalities as compared to type III. A decrease in compound muscle action potential amplitude and motor nerve conduction velocity in children with spinal muscular atrophy correlated with the disease severity, probably as a result of axonal degeneration. Phenotypic severity in children onset spinal muscular atrophy is directly correlated with the extent of survival motor neuron and neuronal apoptosis inhibitor protein exon deletions.

Our results highlight that MR abnormalities of glutaric aciduria type I are more complex and dynamic than previously described. Some MR abnormalities are related to age and appear to manifest following a distinct time pattern. Pathophysiological and therapeutic concepts should not only focus on acute striatal injury and its prevention but should also integrate extrastriatal abnormalities.