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This study aims to adapt and validate the Sustainable HEalthy Diet (SHED) Index for the Portuguese adult population, which was developed to assess sustainable and healthy eating patterns. Data were collected using a web-based questionnaire administered through interviews with 347 individuals aged between 18 and 65 years old. The SHED Index evaluates 30 items, allowing for the assessment and scoring of sustainable and healthy eating patterns. The higher the SHED Index score, the more sustainable and healthier the diet. A semi-quantitative food frequency questionnaire was used to assess the participants' dietary intake. The criterion validity was examined by testing the relationship between the SHED Index score and adherence to the Mediterranean Diet. Reproducibility was assessed by determining agreement and reliability with test-retest. Construct validity was confirmed based on established criteria. A higher SHED Index score was associated with moderate to high adherence to the Mediterranean diet, while it was inversely related to the proportion of animal-sourced foods in the overall food intake (r = -0.281, p < 0.001). Good reliability and agreement were found for the SHED Index score. Our findings suggest that the SHED Index is a valid and reliable tool for assessing sustainable and healthy diets in the Portuguese adult population.

Objectives: Helicobacter pylori is one of the most prevalent global pathogens colonising an estimated 50% of the world's population. Although metronidazole (MTZ) is an important antibiotic playing a relevant role in various H. pylori eradication therapies, its frequent consumption results in an increased frequency of resistance with a consequent negative impact on treatment efficacy. Mutations on genes encoding NADPH nitroreductases, commonly known as rdxA gene (oxygen-insensitive) and frxA gene (flavinreductase) have been associated to H. pylori resistance to metrodinazole. The aim of this study was to evaluate the mutation profile of rdxA and frxA genes in a population of 38 H. pylori isolates with phenotypic patterns of susceptibility and resistance to this antibiotic., Methods: Touchdown PCR with the purpose of amplifying rdxA and frxA genes in one PCR was used. Sequence data were made by pair-wise sequence alignment and were examined in terms of codons, and comparison was achieved regarding amino acids., Results: Although repeated mutations occurred in positions 118, 131, 172 and 183 of rdxA and in positions 72, 73, 110, 126 and 193 of frxA, it must be highlighted that the mutations are widespread along these two genes in this population. Furthermore, six MTZ-resistant isolates did not present any mutation in the frxA gene., Conclusions: This work appears to confirm that mutations in rdxA and frxA alone are unable to explain MTZ resistance in H. pylori isolates and therefore additional mechanisms may exist and should be investigated., (Copyright © 2019 International Society for Chemotherapy of Infection and Cancer. Published by Elsevier Ltd. All rights reserved.)

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder characterized by 3 overlapping phenotypes: salt-wasting (SW), simple virilizing (SV), and non-classic (NC). We aimed at conducting a nationwide genotype description of the CAH pediatric patients and to establish their genotype-phenotype correlation., Methods: CAH patients were recruited from Portuguese pediatric endocrinology centers and classified as SW, SV, or NC. Genetic analysis was performed by polymerase chain reaction (sequence specific primer, restriction fragment length polymorphism) or direct Sanger sequencing. Genotypes were categorized into 4 groups (0, A, B, and C), according to their predicted enzymatic activity. In each group, the expected phenotype was compared to the observed phenotype to assess the genotype-phenotype correlation., Results: Our cohort comprises 212 unrelated pediatric CAH patients (29% SW, 11% SV, 60% NC). The most common pathogenic variant was p.(Val282Leu; 41.3% of the 424 alleles analyzed). The p.(Val282Leu) variant, together with c.293-13A/C>G, p.(Ile173Asn), p.(Leu308Thr), p.(Gln319*), and large deletions/conversions were responsible for 86.4% of the mutated alleles. Patients' stratification by disease subtype revealed that the most frequent pathogenic variants were c.293-13A/C>G in SW (31.1%), p.(Ile173Asn) in SV (46.9%), and p.(Val282Leu) in NC (69.5%). The most common genotype was homozygosity for p.(Val282Leu; 33.0%). Moreover, we found 2 novel variants: p.(Ile161Thr) and p.(Trp202Arg), in exons 4 and 5, respectively. The global genotype-phenotype correlation was 92.4%. Group B (associated with the SV form) showed the lowest genotype-phenotype correlation (80%)., Conclusion: Our cohort has one of the largest NC CAH pediatric populations described. We emphasize the high frequency of the p.(Val282Leu) variant and the very high genotype-phenotype correlation observed., (© 2019 S. Karger AG, Basel.)