ABSTRACT
Despite the fact that many species are economically important agricultural pests, the fruit fly fauna of Ecuador is still relatively poorly known. To better understand this fauna and the distribution and host plants of the pest species, the Proyecto Nacional de Manejo de las Moscas de la Fruta of AGROCALIDAD has conducted trapping surveys in many parts of the country. Two new species of Anastrepha from Ecuador that were collected by this project are described and illustrated: A. quadripuncta Troya Norrbom and A. tinctobasis Troya Norrbom. A new species group, the morvasi group, is recognized for A. morvasi Zucchi and A. quadripuncta.
Subject(s)
Tephritidae , Animals , Drosophila , EcuadorABSTRACT
OBJECTIVES: To investigate the BH4 response in a group of patients with phenylketonuria (PKU) in order to offer this alternative treatment to the responsive patients. DESIGN AND METHODS: The 24-h-long Phe/BH4 loading test was performed on 64 PKU patients requiring dietary treatment. RESULTS: All patients with mild-PKU and 75% of patients with moderate-PKU were BH4 responsive, while only 11% of classic-PKU patients showed good/partial response (P < 0.0001). The percentages of Phe decrease after the BH4 loading test were significantly different in the three PKU phenotypes (mild PKU: 67.9 +/- 18.7; moderate PKU: 37.4 +/- 16.8; and classical PKU: 21.9 +/- 13.7; ANOVA with Bonferroni correction: P < 0.0001). We report four mutations (P147S, D222G, P275S, and P362T) not previously associated with BH4 responsiveness, all of them combined with mutations with zero predicted residual activity. CONCLUSION: Both the percentage of Phe decrease and the Phe value achieved 24 h after BH4 loading are valuable data in predicting a response. We report four mutations not previously associated with BH4 responsiveness.
Subject(s)
Biopterins/analogs & derivatives , Biopterins/therapeutic use , Phenylketonurias/drug therapy , Adolescent , Adult , Biopterins/pharmacology , Child, Preschool , Dose-Response Relationship, Drug , Female , Humans , Infant , Mutation , Phenotype , Phenylalanine/blood , Phenylalanine/metabolism , Phenylketonurias/blood , Phenylketonurias/genetics , PregnancyABSTRACT
Congenital disorders of glycosylation (CDG) are a growing group of genetic disorders caused by a deficient assembly or processing of glycoproteins. Our aim was to improve a western blotting detection procedure previously described and to assess the efficiency of this procedure for CDG screening, using isoelectric focusing (IEF) as the reference method. We analysed transferrin and haptoglobin in serum from 12 patients with CDG-Ia, 3 patients with CDG-X and 95 healthy paediatric controls. These proteins were also studied in dried blood spot samples. Reference values for our paediatric population were established. No differences (Mann-Whitney test) were observed in the percentage of low molecular weight transferrin and haptoglobin fractions according to sex and age of the controls. Densitometric analysis showed a high percentage of the less sialylated fractions of glycoproteins in all CDG-Ia patients and normal values in the CDG-X patients. In conclusion, western blotting with diaminobenzidine detection is a simple and sensitive procedure to screen for CDG, either in serum or blood spot samples. Densitometric analysis and the establishment of reference values might improve the detection of subtle changes in the glycosylation of proteins.
