Kleopatra H Schulpis

Institute of Child Health - Greece, Athínai, Attica, Greece

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Publications (160)392.75 Total impact

  • [Show abstract] [Hide abstract]
    ABSTRACT: Abstract Background: Variants of fat mass and obesity associated gene (FTO) and melanocortin-4 receptor gene (MC4R) are related to obesity, overweight and type 2 diabetes. Objectives: To examine the presence of FTO and MC4R variants in Greek newborns. Subjects and methods: A total 1530 newborns of Greek origin were subjected to genetic testing for rs9939609 (FTO) and for rs17782313 (MC4R) variants using dried blood spot (DBS) analysis. Results: Some 20.2% of newborns carried none of the tested variants. FTO homozygotes and FTO heterozygotes correspond to 18.0% and 45.9% of neonates, respectively. MC4R homozygotes and MC4R heterozygotes were identified in 6.7% and 36.3% of neonates, respectively. Of the infants, 2.2% carried both variants in homozygosity, whereas heterozygotes for both variants correspond to 16.7% of the tested neonates. Conclusion: The results indicate high prevalence of homozygosity and heterozygosity for tested variants. Early screening via DBS may be beneficial in order to adopt a healthy lifestyle.
    Journal of pediatric endocrinology & metabolism: JPEM 12/2014; DOI:10.1515/jpem-2014-0320 · 0.71 Impact Factor
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    ABSTRACT: There is evidence in support of low bone density in young patients with disorders of phenylalanine metabolism; however, little is known about muscle and fat mass in these patients, especially in those with mild hyperphenylalaninemia (mHPA).
    07/2014; 12(3):e16061. DOI:10.5812/ijem.16061
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    ABSTRACT: Glucose-6-Phosphate Dehydrogenase (G6PD) gene is located at the X-chromosome at Xq28 and the disease is recessively inherited predominantly in males. More than 400 variants have been proposed based on clinical and enzymatic studies. The aim of the current study was to identify C563T mutation in G6PD-deficient newborns and to correlate the enzyme residual activity with the presence of the mutation. Some 1189 full-term neonates aged 3-5 days old were tested for G6PD activity in dried blood spots from Guthrie cards using a commercial kit. DNA extraction from Guthrie cards and mutation identification among the deficient samples were performed with current techniques. A total of 92 (7.7%) newborns were G6PD-deficient. In 46 (50%), the mutation C563T was identified. The residual activity in C563T hemizygote males (n = 28) was statistically significantly lower (1.23 ± 0.93 U/g Hb) than that in non-C563T G6PD-deficient males (n = 25) (4.01 ± 1.20 U/g Hb, p < 0.0001) and in controls (13.6 ± 2.9 U/g Hb, p < 0.0001). In C563T heterozygote females, the estimated enzyme activity was lower than that determined in non-C563T females. Male C563T hemizygotes suffer from G6PD deficiency and severe neonatal jaundice. G6PD activity showed statistically significant correlation with total bilirubin blood levels.
    Scandinavian journal of clinical and laboratory investigation 01/2014; DOI:10.3109/00365513.2013.879733 · 1.38 Impact Factor
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    ABSTRACT: Abstract Aim: Body composition evaluation in patients with galactosemia and its variants. Methods: The body composition of young subjects with galactose metabolic disorders was analyzed with dual X-ray absorptiometry. The subjects were divided into the classic galactosemia (CG; n=14) group and the group with other galactose metabolic disorders (OGMD, e.g., epimerase deficiency; n=8). Results: In both groups, bone strength and bone mineral density Z-scores were normal. However, CG patients appeared sarcopenic (median muscle mass Z-score=-1.93), whereas OGMD subjects had low-normal muscle mass. In addition, approximately half of all patients were overweight. In CG patients, bone mass was strongly correlated to muscle mass (r=0.81), whereas in OGMD patients it was positively correlated to body mass index (r=0.78). Conclusions: An imbalance between muscle and fat mass, especially in patients with classic galactosemia, was observed. Given the observed strong correlation between bone and muscle mass, more effective lifestyle counseling is needed.
    Journal of pediatric endocrinology & metabolism: JPEM 09/2013; 27(1-2):1-6. DOI:10.1515/jpem-2013-0161 · 0.71 Impact Factor
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    ABSTRACT: Hyperphenylalaninemia (HPA) leads to increased oxidative stress in patients with phenylketonuria (PKU) and in animal models of PKU. Early diagnosis and immediate adherence to a phenylalanine-restricted diet prevents HPA and, consequently, severe brain damage. However, treated adolescent and adult PKU patients have difficulties complying with the diet, leading to an oscillation of phenylalanine levels and associated oxidative stress. The brain is especially susceptible to reactive species, and oxidative stress might add to the impaired cognitive function found in these patients. The restricted PKU diet has a very limited nutrient content from natural foods and almost no animal protein, which reduces the intake of important compounds. These specific compounds can act as scavengers of reactive species and can be co-factors of antioxidant enzymes. Supplementation with nutrients, vitamins, and tetrahydropterin has given quite promising results in patients and animal models. Antioxidant supplementation has been studied in HPA, however there is no consensus about its always beneficial effects. In this way, regular exercise could be a beneficial addition on antioxidant status in PKU patients. A deeper understanding of PKU molecular biochemistry, and genetics, as well as the need for improved targeted treatment options, could lead to the development of new therapeutic strategies.
    Metabolic Brain Disease 05/2013; 28(4). DOI:10.1007/s11011-013-9414-2 · 2.40 Impact Factor
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    ABSTRACT: Biotinidase deficiency (BTD) is an inherited disorder with severe clinical manifestations if not treated early. 63119 neonates were tested for BTD according to a 3-step protocol. Biotinidase activity was initially estimated through standard colorimetric method on dried blood spots, then the suspected samples were subjected to molecular analysis of the BT gene and determination of BT activity in serum through an HPLC method. 14 infants with partial BTD (incidence 1:4508) were detected. Nine of them were homozygotes (D444H/D444H), and 4 compound heterozygotes carrying D444H combined with Q456H, T532M, C186Y and R157H, respectively. All were asymptomatic and supplemented with 10mg biotin. Although the number of screened neonates is rather small, it may be suggested that the incidence of the partial BTD infants is the highest ever reported. Detection of BTD should be added to the Greek national neonatal screening program.
    Gene 04/2013; DOI:10.1016/j.gene.2013.04.059 · 2.20 Impact Factor
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    ABSTRACT: Phenylketonuria (PKU) therapeutic diet is characterized by the great replacement of natural protein with a phenylalanine-free formula. To investigate the effect of diet on the amino acid serum levels in PKU patients and their total antioxidant status (TAS). Thirty-seven poorly controlled patients (group A), 43 patients who strictly adhered to their diet (group B) and 50 controls were included in the study. In patients and controls blood chemistry, TAS and serum amino acid level determinations were performed. Phenylalanine levels significantly differed among the groups. Glutamine and ornithine levels were significantly higher in group A, while TAS (416±30 vs 228±23μmol/L, p<0.001), citrulline (39±15 vs 26±5μmol/L, p<0.001) and arginine levels (61±11 vs 80±12μmol/L, p<0.001) were higher in group B. The other determined amino acid serum levels did not differ among the groups of patients and controls. The high glutamine and ornithine levels in group A may reflect the high natural protein intake. High phenylalanine levels in these patients may locally affect the hepatocyte, enterocyte, and/or renal function resulting in low citrulline and arginine levels contributing to their low TAS.
    Clinical biochemistry 07/2011; 44(10-11):821-5. DOI:10.1016/j.clinbiochem.2011.05.002 · 2.02 Impact Factor
  • Clinical Chemistry and Laboratory Medicine 02/2011; 49(3):559-62. DOI:10.1515/CCLM.2011.059 · 2.96 Impact Factor
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    ABSTRACT: To investigate the effect of the mode of delivery on maternal-neonatal Mg and Zn levels. Two groups of pregnant women participated in the study: Group A (n = 16) with normal labor and vaginal delivery and group B (n = 14) with scheduled cesarean section (CS). Blood was obtained at the beginning of the labor, immediately after delivery and from the umbilical cord (CB). Serum Mg and Zn were measured with atomic absorption spectroscopy and total antioxidant status (TAS) levels with a chemical autoanalyser. Mg, Zn and TAS levels were similar pre-delivery in both groups. TAS levels, Mg (0.81 ± 0.09 vs 0.69 ± 0.03 mmol/L, p < 0.001) and Zn levels (9.34 ± 0.37 vs 5.74 ± 0.24 μmol/L, p < 0.001) were significantly decreased after vaginal delivery. These biochemical parameters were measured practically unaltered at the same times of study in group B. The mineral levels did not differ in the CB of both groups. The decreased maternal Mg, Zn and TAS levels post vaginal delivery may be due to the participation of skeletal and uterus muscles and the similar levels of the minerals in the CB of neonates to the placental protection.
    Scandinavian journal of clinical and laboratory investigation 11/2010; 70(7):465-9. DOI:10.3109/00365513.2010.507875 · 1.38 Impact Factor
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    ABSTRACT: To investigate the effect of diet on total antioxidative status (TAS), transferrin, ferritin and ceruloplasmin serum levels in phenylketonuric (PKU) children. Seventeen poorly controlled PKU children underwent clinical and laboratory examinations before, 'off diet', and 60 days after adhering to their special diet 'on diet', whereas controls (N = 24) were examined once. Blood chemistry was performed with the appropriate methodologies. Phenylalanine levels differed significantly among the examined groups. Lipids and lipoproteins were higher in 'off diet' than in 'on diet' group, except of high density lipoprotein and apolipoprotein AI that remained unaffected. Total antioxidative status (386 ± 30 vs 204 ± 23 μmol/L, p < 0.001), ferritin (48.2 ± 2.3 vs 33.0 ± 2.8 μg/L, p < 0.001) and ceruloplasmin (40.02 ± 2.5 vs 25.5 ± 2.8 mg/dL, p < 0.001) levels were significantly higher in 'on diet' patients' group compared to 'off diet' one. The low lipoprotein and the high TAS and ferritin levels in patients with PKU 'on diet' may be related to the vegetarian diet and the rich in iron formula supplementation. The low ferritin levels found in 'off diet' patients with PKU may be attributed to a decreased liver production of ceruloplasmin, which evaluation may be a useful tool for the follow-up of patients with PKU.
    Acta Paediatrica 10/2010; 99(10):1565-70. DOI:10.1111/j.1651-2227.2010.01890.x · 1.97 Impact Factor
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    ABSTRACT: Thyroid hormones (THs) exert a broad spectrum of effects on the central nervous system (CNS). Hypothyroidism, especially during CNS development, can lead to structural and functional changes (mostly resulting in mental retardation). The hippocampus is considered as one of the most important CNS structures, while the investigation and understanding of its direct and indirect interactions with the THs could provide crucial information on the neurobiological basis of the (frequently-faced in clinical practice) hypothyroidism-induced mental retardation and neurobehavioral dysfunction. THs-deficiency during the fetal and/or the neonatal period produces deleterious effects for neural growth and development (such as reduced synaptic connectivity, delayed myelination, disturbed neuronal migration, deranged axonal projections, decreased synaptogenesis and alterations in neurotransmitters' levels). On the other hand, the adult-onset thyroid dysfunction is usually associated with neurological and behavioural abnormalities. In both cases, genomic and proteomic changes seem to occur. The aim of this review is to provide an up-to-date synopsis of the available knowledge regarding the aforementioned alterations that take place in the hippocampus due to fetal-, neonatal- or adult-onset hypothyroidism.
    Metabolic Brain Disease 10/2010; 25(3):339-54. DOI:10.1007/s11011-010-9208-8 · 2.40 Impact Factor
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    ABSTRACT: To explore the influence of folate-fortified foods (ready-to-eat [RTE] breakfast cereals or fruit-juice drinks) on the relation between the methylenetetrahydrofolate reductase (MTHFR 677C>T) polymorphism and plasma total homocysteine (tHcy) concentrations in healthy children. This was a cross-sectional study by face-to-face interview. A total of 186 sixth-grade students participated from randomly selected primary schools in Volos, Greece. Fasting plasma tHcy, folate, and vitamin B12 were measured. The MTHFR genotypes were determined. Anthropometric data were collected and dietary intake was assessed by two non-consecutive 24-h recalls. Participants were characterized as non-consumers of RTE breakfast cereals or fruit-juice drinks if there was no report of any such food during the 24-h recall interviews; all other children were classified as consumers. Geometric means for plasma tHcy were higher, whereas plasma folate was lower in non-consumers compared with consumers. The sample was divided by consumption status (yes or no) to explore the significance of each polymorphism depending on consumption status. The association between the genotype and tHcy was restricted to non-consumers (P<0.05). Specifically, only in children who did not consume RTE breakfast cereals or fruit-juice drinks did the TT genotype carriers exhibit higher tHcy concentrations when compared with C-allele carriers (P<0.05). In contrast, in consumers, circulating tHcy was similar regardless of genotype. These observational findings support a beneficial effect of RTE breakfast cereals and fruit-juice drinks on lowering plasma tHcy and improving folate status in children. Also, consumption of folate-fortified foods modulates the association of the MTHFR 677C>T polymorphism with tHcy, suggesting that habitual consumption of folate-fortified foods is a practical approach in providing consistent protection to those children who may benefit the most, i.e., carriers of the TT genotype.
    Nutrition 10/2010; 26(10):969-74. DOI:10.1016/j.nut.2009.09.022 · 3.05 Impact Factor
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    ABSTRACT: To investigate erythrocyte membrane AChE, Na(+), K(+)-ATPase and Mg(2+)-ATPase activities in mothers and their full-term or premature newborns in relation to the mode of delivery. Blood was obtained from mothers pre- and post-delivery and the umbilical cord (CB) of their full-term newborns: Group A₁ (n = 16) born with vaginal delivery (VD), Group B₁ (n = 14) full-terms with scheduled cesarean section (CS), Group A₂ (n = 12) prematures with VD, Group B₂ (n = 14) prematures with CS. Total Antioxidant Status (TAS) and common laboratory tests were measured with routine methods, and the membrane enzyme activities spectrophotometrically. TAS was reduced in mothers post VD and in the CB whereas remained unaltered in CS mothers and their newborns. AChE and Na(+), K(+)-ATPase were increased in mothers post VD. AChE was lower in the CB of prematures than that of full-terms independently of the mode of delivery. Na(+), K(+)-ATPase activity was increased in the groups of mothers post VD and decreased in prematures. The enzyme was higher in prematures with CS than that with VD. Mg(2+)-ATPase activity was unchanged. The increased maternal AChE and Na(+), K(+)-ATPase activities may be due to the low TAS determined post VD, whereas their decreased activities in prematures to their immaturity.
    Scandinavian journal of clinical and laboratory investigation 10/2010; 70(8):568-74. DOI:10.3109/00365513.2010.527365 · 1.38 Impact Factor
  • Clinical Genetics 08/2010; 78(2):195-6. DOI:10.1111/j.1399-0004.2010.01381.x · 3.65 Impact Factor
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    ABSTRACT: Background & aims Low Zinc (Zn) and Magnesium (Mg) concentrations during pregnancy are implicated with low birth weight, malformations and increased mortality and morbidity. We aimed to compare serum concentrations of Zn and Mg in Greek (N = 219) and immigrant Albanian mothers (N = 230) at delivery and in the cord blood of their neonates. Methods A 60 day's food diary was kept from each mother. Zn and Mg sera concentrations were measured with atomic absorption spectrometry. Results Carbohydrates, total fat and cholesterol intake were significantly higher in Albanian mothers when compared with those of Greek origin. On the contrary, total protein and especially animal protein intake were higher in the Greek mothers. Magnesium intake was similar between the two ethnic groups, whereas Zn intake in Albanian mothers was evaluated lower (5.8 ± 1.4 mg/d) when compared with that of Greeks (10.8 mg ± 1.2 mg/d, p < 0.001). Mg serum concentrations in mothers and newborns were similar (2.08 ± 0.15, 1.98 ± 0.12 vs 1.92 ± 0.13, 1.94 ± 0.14 mg/dl respectively, p > 0.05). In contrast, Zn concentration was significantly lower (49.8 ± 1.2 μg/dl) in the Albanian mothers as compared with that of Greeks (62.2 ± 1.4 μg/dl, p < 0.001). Consequently, Zn concentrations were found lower in Albanian newborns (52.0 ± 1.4 μg/dl) than those of Greek neonates (61.8 ± 1.2 μg/dl, p < 0.001). Conclusion Mg serum concentrations were similar in the studied mothers and their neonates. Zn serum concentrations were significantly lower in Albanian mothers and newborns than those of Greek origin, probably due to the reduced rich in Zn animal protein intake from Albanians. The latter may be the consequence of their low socioeconomic status.
    e-SPEN the European e-Journal of Clinical Nutrition and Metabolism 08/2009; 4(4). DOI:10.1016/j.eclnm.2009.05.007
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    ABSTRACT: Forced exercise is associated with oxidative stress, and L-cysteine (L-cys) administration reduces free-radical production. Aim: To investigate whether L-cys (5 mg/kg) intraperitoneal administration can ameliorate modulated total antioxidant status (TAS), protein concentration, and the activities of acetylcholinesterase (AChE), (Na+,K+)-ATPase, and Mg2+-ATPase in rat brain after 2 and 3 hr of forced swimming. TAS, protein, and enzyme activities were measured spectrophotometrically before and after 2 and 3 hr of exercise without or with L-cys administration. TAS concentration (55.6 +/- 1.5 vs. 42.1 +/- 1.0 vs. 37.4 +/- 1.2 micromol/L, p < .001), protein concentration (5.68 +/- 0.36 vs. 5.40 +/- 0.18 vs. 4.01 +/- 0.16 mg/ml, p < .01), and AChE activity (0.89 +/- 0.05 vs. 0.61 +/- 0.04 vs. 0.48 +/- 0.03 DeltaOD/min x mg protein, p < .001) were significantly reduced, whereas Na+,K+-ATPase (6.00 +/- 0.36 vs. 10.44 +/- 1.04 vs. 11.90 +/- 1.21 micromol phosphorus inorganic/hr x mg protein, p < .001) and Mg2+-ATPase activity (7.20 +/- 0.65 vs. 10.88 +/- 1.08 vs. 11.55 +/- 1.22 mmol phosphorus inorganic/hr x mg protein, p < .001) were statistically significantly increased after 2 and 3 hr of forced exercise. Post-L-cys administration, AChE activity was decreased (0.90 +/- 0.04 vs. 0.47 +/- 0.02 DeltaOD/min x mg protein, p < .001) and remained unaltered (0.64 +/- 0.04 vs. 0.67 +/- 0.04 DeltaOD/min x mg protein, p > .05) 2 and 3 hr postexercise (0.47 +/- 0.02 vs. 0.54 +/- 0.02 DeltaOD/min x mg protein, p > .05). Na+,K+-ATPase was decreased and remained unchanged (1.85 +/- 0.17 vs. 1.77 +/- 0.19 mumol phosphorus inorganic/hr x mg protein, p > .05) 2 and 3 hr postswimming (1.91 +/- 0.19 vs. 2.06 +/- 0.17 mumol phosphorus inorganic/hr x mg protein, p > .05). Mg2+-ATPase activity was similar with L-cys supplementation pre- vs. postswimming. L-cys administration might ameliorate modulated rat brain enzyme activities induced by free-radical production during forced swimming.
    International journal of sport nutrition and exercise metabolism 07/2009; 19(3):285-97. · 1.98 Impact Factor
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    ABSTRACT: Catecholamines and carnitine blood levels are closely implicated with training. The aim of the study was to investigate the effect of sympathetic nervous system stimulation on carnitine and its fraction levels during training. Blood was obtained from 14 soccer players pregame, at intermission, and postgame. Catecholamines were measured with high-performance liquid chromatography methods; muscle enzymes creatine kinase and lactate dehydrogenase as well as lactate, pyruvate, and total antioxidant status with commercial kits; and carnitine and fraction levels with tandem mass spectrometry. Total antioxidant status (2.97 +/- 0.13 vs 0.96 +/- 0.10 mmol/L, P < .01) as well as free carnitine levels (20.47 +/- 4.0 vs 12.30 +/- 2.8 micromol/L, P < .001) were remarkably decreased especially postgame. Total acylcarnitines (5.20 +/- 1.8 vs 9.42 +/- 3.0 micromol/L, P < .001) and especially total very long-chain acylcarnitines (0.80 +/- 0.01 vs 1.85 +/- 0.03 micromol/L, P < .001) as well as catecholamine levels (adrenaline: 230 +/- 31 vs 890 +/- 110 pmol/L, P < .01; noradrenaline: 1.53 +/- 0.41 vs 3.7 +/- 0.6 nmol/L, P < .01) were significantly increased in players postgame. A statistically significant inverse correlation was found between adrenaline and free carnitine (r = -0.51, P < .01); and a positive correlation was found between adrenaline, total acylcarnitines (r = 0.58, P < .01), and total long-chain acylcarnitine (r = 0.49, P < .01). The significant positive correlation of adrenaline levels with total acylcarnitine and total long-chain acylcarnitine blood levels in athletes as well as the inverse correlation with free carnitine levels may indicate participation of the stimulated sympathetic nervous system in the regulation of some carnitine fraction levels during exercise.
    Metabolism: clinical and experimental 06/2009; 58(8):1080-6. DOI:10.1016/j.metabol.2009.04.001 · 3.61 Impact Factor
  • Kleopatra H. Schulpis, Stylianos Tsakiris
    05/2009: pages 393-457;
  • Clinical Chemistry and Laboratory Medicine 02/2009; 47(5):621-4. DOI:10.1515/CCLM.2009.125 · 2.96 Impact Factor

Publication Stats

1k Citations
392.75 Total Impact Points


  • 2003–2014
    • Institute of Child Health - Greece
      Athínai, Attica, Greece
  • 1990–2013
    • Aghia Sophia Children’s Hospital
      Athínai, Attica, Greece
  • 2008
    • Red Cross
      Washington, Washington, D.C., United States
  • 2000–2008
    • Institute for Child Health Policy (ICHP)
      Greece, New York, United States
  • 1993–2007
    • Νοσοκομείο Παίδων Η Αγία Σοφία
      Athínai, Attica, Greece
  • 2000–2006
    • National and Kapodistrian University of Athens
      • Division of Experimental Physiology
      Athínai, Attica, Greece
  • 2001
    • Red Cross Hospital, Athens
      Athínai, Attica, Greece
  • 1997
    • A. Sygros Hospital
      Athínai, Attica, Greece