No abstract

The present study aimed to analyze the mycoflora and potential mycotoxin contamination of soil and corn samples collected at different plant maturity stages in Capão Bonito and Ribeirão Preto, two regions of the State of São Paulo, Brazil. In addition, the data obtained were correlated with the occurrence of wind-dispersed fungi and the predominant climatic conditions of the two regions studied. Corn mycoflora profiles showed that Fusarium verticillioides prevailed in 35% of the samples from Capão Bonito and in 49% of the samples from Ribeirão Preto. Examination of wind-dispersed fungi also revealed a high incidence of F. verticillioides. Soil mycoflora analyses showed that Penicilliumwas the most prevalent genus, although F. verticillioides was present in 55.5% of Capão Bonito's samples and in 26.7% of Ribeirão Preto's samples. With respect to water activity, the corn kernels most contaminated with F. verticillioides had water activity levels of 0.70-0.80. HPLC analysis of fumonisins revealed that 88.5% of Capão Bonito's kernels were contaminated with fumonisin B(1) (FB(1)) (0.09-10.87 microg/g) and 53.8% with fumonisin B(2) (FB(2)) (0.05-0.52 microg/g); Ribeirão Preto's kernels presented contamination levels of 93.5% for FB(1) (0.11-17.69 microg/g) and 61.3% for FB(2) (0.05-5.24 microg/g). No aflatoxins were detected by thin-layer chromatography in corn grains of either region. The concomitant occurrence of F. verticillioides and fumonisins in most of the field corn assayed demonstrates the importance of an effective control of cultivation throughout the plant maturity stages.

Our data support the advantage of a centralised laboratory for screening an elevated number of samples and making decisions if relying on a clinical network able to provide fast treatment and a good outcome in the screened cases.

No abstract

Methionine adenosyltransferase deficiency (MAT I/III deficiency) is an inborn error of metabolism resulting in isolated hypermethioninemia, and usually inherited as an autosomal recessive trait, although a dominant form has been reported in several families.During the last 6 years, approximately 520,000 newborns were screened in the Portuguese Newborn Screening Laboratory by MS/MS, and 21 cases of persistent hypermethioninemia were found. One case was confirmed to be a deficiency of cystathionine b-synthase and 20 cases were confirmed by MAT1A gene analysis to have an elevation of methionine due to MAT I/III deficiency, which indicates an incidence for this condition of 1/26,000. Twelve of the MAT I/III deficient newborns, belonging to 11 families, were identified in the northern region of Portugal and sent to the same treatment center, where they are under follow-up. Clinical, biochemical, and genetic characteristics of individuals from these 11 families are presented. Plasma methionine and homocysteine concentrations were found to be moderately increased in all newborns, and molecular analysis revealed that they all were heterozygous for R264H mutation. Normal growth, development, and neurological examination were observed in all cases, and cerebral MRI performed in six cases revealed myelination abnormalities in one case. Plasma methionine concentration for all 12 cases was always below 300 mM, and they are all on a normal diet for their age. AbbreviationsAdoMet S-adenosylmethionine CNS Central nervous system MAT Methionine adenosyltransferase MRI Magnetic resonance imaging MS/MS Tandem mass spectrometry

INTRODUCTIONIn the search for quality of life, humans have intensified their efforts in favour of food safety postulates in an attempt to improve the microbiological quality of foods. Mycotoxins are among the factors that compromise the quality of foods, with their ingestion causing serious damage to human and animal health.

Fifty-nine Aspergillus flavus and 35Fusarium verticillioides strains, isolated from freshly harvested (10) and stored (130) Brazilian sorghum samples, were tested regarding their ability to produce aflatoxins (coconut milk agar) and fumonisins (rice culture), respectively. Aflatoxins B1 and B2 were detected by TLC, and fumonisins B1 and B2 were analyzed by HPLC. Thirty-eight (64.4%) A. flavus strains produced detectable levels of aflatoxins at concentrations ranging from 12.00 to 3282.50 µg/kg (AFB1 + AFB2), while thirty two (91%) F. verticillioides strains produced FB1 at concentrations ranging from 0.12 to 5.38 µg/g. Two F. proliferatum strains produced low fumonisin levels. The toxigenic potential of A. flavus (64.4%) and F. verticillioides (91.5%) strains observed in sorghum samples indicates that rigorous control should be directed at the storage conditions of these products to minimize contamination with toxigenic deteriorating fungi, preventing further hazard to human and animal health.

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest genetic defect of mitochondrial fatty acid β-oxidation. About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele). Herein, we present the first report on the molecular and biochemical spectrum of Portuguese MCADD population. From the 109 patients studied, 83 were diagnosed after inclusion of MCADD in the national newborn screening, 8 following the onset of symptoms and 18 through segregation studies. Gypsy ancestry was identified in 85/109 patients. The G985 allele was found in homozygosity in 102/109 patients, in compound heterozygosity in 6/109 and was absent in one patient. Segregation studies in the Gypsy families showed that 93/123 relatives were carriers of the G985 allele, suggesting its high prevalence in this ethnic group. Additionally, three new substitutions-c.218A>G (p.Tyr73Cys), c.503A>T (p.Asp168Val) and c.1205G>T (p.Gly402Val)-were identified. Despite the particularity of the MCADD population investigated, the G985 allele was found in linkage disequilibrium with H1(112) haplotype. Furthermore, two novel haplotypes, H5(212) and H6(122) were revealed.