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Vrilissia, Greece

Molou E.,Neogenetics S.A. Voriou | Schulpis K.H.,Institute of Child Health | Birbilis C.,National and Kapodistrian University of Athens | Thodi G.,Neogenetics S.A. Voriou | And 3 more authors.
Journal of Pediatric Endocrinology and Metabolism | Year: 2015

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. © 2015 by De Gruyter. Source


Maltezou H.C.,Hellenic Center for Diseases Control and Prevention | Drakoulis N.,National and Kapodistrian University of Athens | Siahanidou T.,National and Kapodistrian University of Athens | Karalis V.,National and Kapodistrian University of Athens | And 5 more authors.
Pediatric Infectious Disease Journal | Year: 2012

Oseltamivir was administered at 1.0 mg/kg b.i.d. to 13 neonates exposed to influenza H1N1. No influenza, neurologic, or laboratory adverse effects occurred. The mean Cmax values for oseltamivir and oseltamivir carboxylate were found to be lower than those reported for children 1 to 5 years old, whereas Tmax values were similar to children 1 to 5 years old. Age and gender were found to significantly affect oseltamivir clearance. Copyright © 2012 by Lippincott Williams & Wilkins. Source


Thodi G.,Neoscreen Ltd. | Schulpis K.H.,Institute of Child Health | Dotsikas Y.,National and Kapodistrian University of Athens | Pavlides C.,Therapeutic and Research Center | And 4 more authors.
Journal of Pediatric Endocrinology and Metabolism | Year: 2016

Background: Hawkinsinuria is a rare inborn error of tyrosine metabolism. Objectives: To study novel hawkinsinuria cases by monitoring their biochemical profile and conducting a mutation analysis. Subjects and methods: Among 92,519 newborns that underwent expanded newborn screening, two unrelated cases with high tyrosine blood levels were further investigated by chromatographic techniques and via genetic testing for 4-hydroxyphenylpyruvate dioxygenase (HPD) gene. Results: Elevated levels were monitored for blood/plasma tyrosine and for the specific diagnostic markers in urine. The two newborns were put on a special low tyrosine diet. Till completion of the 1st year of their life, liver function tests and brain MRI were normal. The mutation A33T was identified in both cases, while one neonate carried an additional novel mutation of HPD gene (V212M). Conclusions: Two mutations of HPD gene, A33T, which are associated with hawkinsinuria and a novel one (V212M) were detected for the 1st time in Greek newborns. © 2016 by De Gruyter. Source


Thodi G.,Neoscreen Ltd. | Schulpis K.H.,Institute of Child Health | Molou E.,Neoscreen Ltd. | Georgiou V.,Neoscreen Ltd. | And 4 more authors.
Gene | Year: 2013

Biotinidase deficiency (BTD) is an inherited disorder with severe clinical manifestations if not treated early. 63,119 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 10. mg 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. © 2013. Source


Thodi G.,Neoscreen Ltd. | Georgiou V.,Neoscreen Ltd. | Molou E.,Neoscreen Ltd. | Loukas Y.L.,National and Kapodistrian University of Athens | And 4 more authors.
Clinical Biochemistry | Year: 2012

Objectives: The purpose of the current study was to screen newborns in Greece and to identify the responsible mutations for Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). Design and methods: 47.812 neonates were screened for the potential presence of MCADD in Greece, via a LC-MS/MS protocol. The "suspected" samples were subjected to genetic testing via PCR-RFLP and sequencing of the coding region of the ACADM gene. Urine samples were collected and then analyzed with a GC/MS method. Results: The MCADD prevalence is 1 in 15,937 births. The alleles c.985A. > G and c.245insT were detected in the 29.2% and 20.8% of the "suspected" cohort, respectively. A novel variant with potential pathogenicity was identified. Conclusions: The c.245insT allele seems to prevail in the Greek cohort of "suspected" specimens. Therefore, this variant along with the c.985A. > G allele could constitute a panel for both prenatal and neonatal MCADD screening in the Greek population. © 2012 The Canadian Society of Clinical Chemists. Source

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