Salvatore Longo

Università degli Studi di Catania, Catania, Sicily, Italy

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Publications (5)8.41 Total impact

  • Article: Metabolic profile of amniotic fluid as a biochemical tool to screen for inborn errors of metabolism and fetal anomalies
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    ABSTRACT: Physiologic concentration in amniotic fluid (AF) of several metabolites has not been established with certainty. In this study, we initially assayed purines, pyrimidines, and amino compounds in 1,257 AF withdrawn between the 15th and the 20th week of gestation from actually normal pregnancies (normal gestations, normal offspring). Results allowed to determine physiologic reference intervals for 45 compounds. In these AF, not all purines and pyrimidines were detectable and uric acid (238.35±76.31μmol/l) had the highest concentration. All amino compounds were measurable, with alanine having the highest concentration (401.10±88.47μmol/l). In the second part of the study, we performed a blind metabolic screening of AF to evaluate the utility of this biochemical analysis as an additional test in amniocenteses. In 1,295 additional AF from normal pregnancies, all metabolites fell within the confidence intervals determined in the first part of the study. In 24 additional AF from women carrying Down’s syndrome-affected fetuses, glutamate, glutamine, glycine, taurine, valine, isoleucine, leucine, ornithine, and lysine were different from physiologic reference values. One AF sample showed phenylalanine level of 375.54μmol/l (mean value in normal AF=65.07μmol/l) and was from a woman with unreported phenylketonuria with mild hyperphenylalaninemia (serum phenylalanine=360.88μmol/l), carrying the IVS 4+5 G-T and D394A mutations. The fetus was heterozygote for the maternal D394A mutation. An appropriate diet maintained the mother phenylalanine in the range of normality during pregnancy, avoiding serious damage in fetal and neonatal development. These results suggest that the metabolic screening of AF might be considered as an additional biochemical test in amniocenteses useful to highlight anomalies potentially related to IEM. KeywordsAmniotic fluid–Purines–Pyrimidines–Amino acids–Prenatal screening–Inborn errors of metabolism
    Molecular and Cellular Biochemistry 04/2012; 359(1):205-216. · 2.06 Impact Factor
  • Article: Modulation of circulating purines and pyrimidines by physical exercise in the horse
    [show abstract] [hide abstract]
    ABSTRACT: This study was designed to examine the influence of sub-maximal exercise on purine and pyrimidine catabolism in horses. Ten horses were initially trained for 12weeks at the end of which they underwent a standardized exercise test (SET); venous blood samples were taken at rest, 5 and 30min after the SET. Six untrained healthy horses, from which a blood withdrawal was taken at rest, were used as the control group. Samples were analyzed by HPLC for the simultaneous determination of uric acid, uridine, β-pseudouridine and creatinine in plasma. Glucose and lactate were measured in blood. Trained horses had basal uridine levels significantly lower than sedentary horses. The SET caused significant increase in plasma uric acid, uridine, β-pseudouridine and creatinine. Following the SET, a significant negative correlation was found between plasma uridine and glucose, whilst a significant positive correlation was observed between plasma uric acid and creatinine. These results indicate that increase in energy demand during exercise in the horse causes not only the degradation of purine but also of pyrimidine compounds, the latter possibly exerting a control on glucose uptake as also demonstrated in human beings. KeywordsExercise–Horse–Plasma–β-pseudouridine–Uric acid–Uridine
    Arbeitsphysiologie 04/2012; 111(3):549-556. · 2.15 Impact Factor
  • Article: Metabolic profile of amniotic fluid as a biochemical tool to screen for inborn errors of metabolism and fetal anomalies.
    [show abstract] [hide abstract]
    ABSTRACT: Physiologic concentration in amniotic fluid (AF) of several metabolites has not been established with certainty. In this study, we initially assayed purines, pyrimidines, and amino compounds in 1,257 AF withdrawn between the 15th and the 20th week of gestation from actually normal pregnancies (normal gestations, normal offspring). Results allowed to determine physiologic reference intervals for 45 compounds. In these AF, not all purines and pyrimidines were detectable and uric acid (238.35±76.31 μmol/l) had the highest concentration. All amino compounds were measurable, with alanine having the highest concentration (401.10±88.47 μmol/l). In the second part of the study, we performed a blind metabolic screening of AF to evaluate the utility of this biochemical analysis as an additional test in amniocenteses. In 1,295 additional AF from normal pregnancies, all metabolites fell within the confidence intervals determined in the first part of the study. In 24 additional AF from women carrying Down's syndrome-affected fetuses, glutamate, glutamine, glycine, taurine, valine, isoleucine, leucine, ornithine, and lysine were different from physiologic reference values. One AF sample showed phenylalanine level of 375.54 μmol/l (mean value in normal AF=65.07 μmol/l) and was from a woman with unreported phenylketonuria with mild hyperphenylalaninemia (serum phenylalanine=360.88 μmol/l), carrying the IVS 4+5 G-T and D394A mutations. The fetus was heterozygote for the maternal D394A mutation. An appropriate diet maintained the mother phenylalanine in the range of normality during pregnancy, avoiding serious damage in fetal and neonatal development. These results suggest that the metabolic screening of AF might be considered as an additional biochemical test in amniocenteses useful to highlight anomalies potentially related to IEM.
    Molecular and Cellular Biochemistry 08/2011; 359(1-2):205-16. · 2.06 Impact Factor
  • Source
    Article: Serum metabolic profile in multiple sclerosis patients.
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    ABSTRACT: Multiple sclerosis (MS) is a progressive demyelinating process considered as an autoimmune disease, although the causes of this pathology have not been yet fully established. Similarly to other neurodegenerations, MS is characterized by a series of biochemical changes affecting to different extent neuronal functions; great attention has been given to oxidative/nitrosative stress and to alterations in mitochondrial functions. According to previous data, MS patients show significant changes in the circulating concentrations of different metabolites, although it is still unclear whether uric acid undergoes to decrease, increase, or no change under this pathological condition. In this study, we report the serum metabolic profile in terms of purines, pyrimidines, creatinine, malondialdehyde, ascorbic acid, nitrite, and nitrate in a group of 170 MS patients. The results show increase in circulating uric acid and other oxypurines (hypoxanthine and xanthine), as well as in uridine and β-pseudouridine. The concomitant increase in circulating creatinine, malondialdehyde, nitrite, and nitrate, and decrease in ascorbic acid, demonstrates that MS induces alteration in energy metabolism and in oxidants/antioxidants balance that can be monitored in serum of MS patients.
    Multiple sclerosis international. 01/2011; 2011:167156.
  • Article: Modulation of circulating purines and pyrimidines by physical exercise in the horse.
    [show abstract] [hide abstract]
    ABSTRACT: This study was designed to examine the influence of sub-maximal exercise on purine and pyrimidine catabolism in horses. Ten horses were initially trained for 12 weeks at the end of which they underwent a standardized exercise test (SET); venous blood samples were taken at rest, 5 and 30 min after the SET. Six untrained healthy horses, from which a blood withdrawal was taken at rest, were used as the control group. Samples were analyzed by HPLC for the simultaneous determination of uric acid, uridine, β-pseudouridine and creatinine in plasma. Glucose and lactate were measured in blood. Trained horses had basal uridine levels significantly lower than sedentary horses. The SET caused significant increase in plasma uric acid, uridine, β-pseudouridine and creatinine. Following the SET, a significant negative correlation was found between plasma uridine and glucose, whilst a significant positive correlation was observed between plasma uric acid and creatinine. These results indicate that increase in energy demand during exercise in the horse causes not only the degradation of purine but also of pyrimidine compounds, the latter possibly exerting a control on glucose uptake as also demonstrated in human beings.
    Arbeitsphysiologie 10/2010; 111(3):549-56. · 2.15 Impact Factor

Institutions

  • 2012
    • Università degli Studi di Catania
      • Department of Chemical Sciences
      Catania, Sicily, Italy
  • 2010
    • Università degli Studi di Messina
      • Dipartimento di Scienze Veterinarie
      Messina, Sicily, Italy