Browsing by Author "Ribeiro, I."
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- Genetic variation in a gene involved in glycosphingolipid lipid biosynthesisPublication . Amaral, Olga; Duarte, Ana Joana; Pinto, Eugenia; Ribeiro, I.; Lopes, Lurdes; Ribeiro, DiogoIn this work we presented the identification and distribution of genetic variations among the control samples studied. The results obtained with the different samples showed the existence of several polymorphic changes. Polymorphisms in the UGCG gene may interfere with the amount of substrate available for degradation in specific diseases along the same pathway. Thus,the degree of genetic variability might influence the phenotypic expression as well as the lysosomal burden. Conclusion: Assessment of variation in the UGCG gene should be considered, particularly in patients who do not comply with the expected genotype/phenotype correlations.
- Paralytic shellfish poisoning due to ingestion of contaminated mussels: a 2018 case report in Caparica (Portugal)Publication . Lopes de Carvalho, I.; Pelerito, A.; Ribeiro, I.; Cordeiro, R.; Núncio, M.S.; Vale, P.In Portugal, the potent paralytic shellfish toxins (PSTs) have appeared irregularly since the onset of a national monitoring program for marine biotoxins in 1986. In years where high contamination levels were attained in bivalves, sporadic cases of human poisonings have been recorded, as in 1994 and 2007. The reappearance of high contamination levels led to the appearance of new cases during the autumn of 2018. This study details toxin ingestion, symptomatology and toxin elimination and metabolization in the fluids of two patients, who ingested mussels from the Portuguese southwest coast and required hospitalization due to the severity of symptoms. Toxin elimination was confirmed by ELISA in plasma and urine samples. In mussel samples, the toxin profile obtained by HPLC-FLD displayed a wide diversity of toxins, typical of Gymnodinum catenatum ingestion. However, in the urine samples, the toxin profile was reduced to B1 and dcSTX. Abundant compounds in mussels having an O- sulphate at C11, such as C1þ2 and dcGTX2þ3, were absent in urine. In plasma, PSTs were not detected by HPLC- FLD. Calculated toxin ingestion, resulting from consumption of an estimated 200-g portion, was in the range of 104–120 μg STX eq./kg b. w.
- Paralytic Shellfish Poisoning due to ingestion of contaminated mussels: a case report in Caparica (Portugal)Publication . Ribeiro, I.; Pelerito, A.; Cordeiro, R.; Vale, P.; Núncio, M.S.; Lopes de Carvalho, I.In Portugal, the potent paralytic shellfish toxins (PSTs) have appeared irregularly since the onset of a national monitoring program for marine biotoxins in 1986. In years where high contamination levels were attained in bivalves, sporadic cases of human poisonings have been recorded, as in 1994 and 2007. The reappearance of high contamination levels led to the appearance of new cases during the autumn of 2018. This study reports the case of two patients that ingested mussels from the Portuguese southwest coast and required hospitalization due to the severity of symptoms. Details of toxin ingestion, symptomatology and toxin metabolization in the fluids are described. The diagnosis was confirmed by ELISA in plasma and urine samples. In mussel samples, the toxin profile obtained by HPLC-FLD displayed a wide diversity of toxins, typical of Gymnodinum catenatum ingestion. However, in the urine samples toxin profile was reduced to B1 and dcSTX. Abundant compounds in mussels having an O-sulfate at C11, such as C1+2 and dcGTX2+3, were absent in urine. In plasma, PSTs were not detected by HPLC-FLD. Calculated toxin ingestion, resulting from consumption of an estimated 200-gram portion, was in the range of 104-120 µg STX eq./kg b.w. This study alerts physicians to be aware of this human syndrome with only sporadic occurrence in Portugal.
- SCARB2 mutations as modifiers in Gaucher disease: the wrong enzyme at the wrong place?Publication . Coutinho, Maria Francisca; Lacerda, L.; Gaspar, A.; Pinto, E.; Ribeiro, I.; Laranjeira, F.; Ribeiro, H.; Silva, E.; Ferreira, C.; Prata, M.J.; Alves, S.Unlike most lysosomal proteins, β-glucocerebrosidase (GCase), the hydrolase defective in Gaucher disease (GD), is delivered to lysosomes through its interaction with the transmembrane protein LIMP2. A few years ago, mutations in its coding gene, SCARB2, were reported to modify the severity of GD phenotype. The existence of a great variety of GD phenotypes is well-known, with numerous patients who carry identical genotypes presenting remarkable phenotypic variability. Over the years, that variability has been attributed to other genetic, epigenetic and/or environmental factors. Still, there is still much to learn on this subject. Recently, an association between Parkinson's disease (PD) and the presence of mutations in the GBA gene has been demonstrated. Moreover, there are also studies suggesting that genetic variants in the SCARB2 gene may also be risk factors for PD. We analysed the SCARB2 gene in the Portuguese cohort of 91 GD patients, having identified 3 different SCARB2 coding variants. Of those, 2 were known polymorphisms with high prevalence in the normal population (p.M159V and p.V396I) and the third was a novel coding variant, p.T398M, present in heterozigousity in a single patient. Our study demonstrated that, at least for the Portuguese population, genetic variability at SCARB2 does not account much to the GD phenotypic spectrum. Nevertheless, in vitro analyses of the novel p.T398M are envisaged, in order to further characterize the effect of this variant on the levels and sub-cellular location of GCase. The clinical presentation of the patient harbouring this coding variant will also be discussed.
- SCARB2 mutations as modifiers in Gaucher disease: the wrong enzyme at the wrong place?Publication . Coutinho, M.F.; Lacerda, L.; Gaspar, A.; Pinto, E.; Ribeiro, I.; Laranjeira, F.; Ribeiro, H.; Silva, E.; Ferreira, C.; Prata, M.J.; Alves, S.Unlike most lysosomal proteins, β-glucocerebrosidase (GCase), the hydrolase defective in Gaucher disease (GD), is delivered to lysosomes through its interaction with the transmembrane protein LIMP2. A few years ago, mutations in its coding gene, SCARB2, were reported to modify the severity of GD phenotype. The existence of a great variety of GD phenotypes is well-known, with numerous patients who carry identical genotypes presenting remarkable phenotypic variability. Over the years, that variability has been attributed to other genetic, epigenetic and/or environmental factors. Still, there is still much to learn on this subject. Recently, an association between Parkinson's disease (PD) and the presence of mutations in the GBA gene has been demonstrated. Moreover, there are also studies suggesting that genetic variants in the SCARB2 gene may also be risk factors for PD. We analysed the SCARB2 gene in the Portuguese cohort of 91 GD patients, having identified 3 different SCARB2 coding variants. Of those, 2 were known polymorphisms with high prevalence in the normal population (p.M159V and p.V396I) and the third was a novel coding variant, p.T398M, present in heterozigousity in a single patient. Our study demonstrated that, at least for the Portuguese population, genetic variability at SCARB2 does not account much to the GD phenotypic spectrum. Nevertheless, in vitro analyses of the novel p.T398M are envisaged, in order to further characterize the effect of this variant on the levels and sub-cellular location of GCase. The clinical presentation of the patient harbouring this coding variant will also be discussed.