Athens, Greece
Athens, Greece

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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.


Molou E.,Neogenetics S.A. Voriou | Schulpis K.H.,Aghia Sophia Childrens Hospital | 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.


Thodi G.,Neoscreen Ltd. | Schulpis K.H.,Aghia Sophia Childrens Hospital | 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.


Thodi G.,Neoscreen Ltd. | Schulpis K.H.,Aghia Sophia Childrens Hospital | Dotsikas Y.,National and Kapodistrian University of Athens | Pavlides C.,Obstetrics and Gynaecology Hospital Diagnostic | 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.


Loukas Y.L.,National and Kapodistrian University of Athens | Thodi G.,Neoscreen Ltd. | Molou E.,Neoscreen Ltd. | Georgiou V.,Neoscreen Ltd. | And 2 more authors.
Scandinavian Journal of Clinical and Laboratory Investigation | Year: 2015

A 23-mutation panel for CFTR carrier screening is recommended to women of reproductive age by the American College of Obstetricians and Gynecologists. In the present study the optimized efficiency regarding the carrier rate of Next-Generation sequencing (NGS) technology is compared to the one of limited mutation detection panels. A total of 824 consequent cases were subjected to the commercial Cystic Fibrosis Genotyping Assay. Some 188 negative samples randomly selected from the initial group of probands were further subjected to an extended mutation panel characterized by 92% detection rate, as well as to massive parallel sequencing. Twenty-two probands subjected to the commercial assay proved to carry one mutation included in the ACOG panel (carrier rate 0.0267). The latter panels revealed the presence of mutations not included in the ACOG panel in four probands, resulting to an increase of carrier rate of 0.0106 in the case of in-house panel and an increase of rate of 0.0213 if NGS was used. The above data seem to support the implementation of NGS in the routine CFTR carrier screening. © 2015 Informa Healthcare.


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.


Loukas Y.L.,National and Kapodistrian University of Athens | Soumelas G.-S.,National and Kapodistrian University of Athens | Dotsikas Y.,National and Kapodistrian University of Athens | Georgiou V.,Neoscreen Ltd. | And 5 more authors.
Journal of Inherited Metabolic Disease | Year: 2010

In Greece, the National Newborn Screening Program was initiated in 1974 and is performed by the Institute of Child Health (ICH). However, there is a complete absence of conditions that have high rates of mortality and a relatively high prevalence listed in the Catalogue of Disorders screened by the ICH. Our laboratory has expanded the existing NBS program to include newborn screening for inborn errors of metabolism, screening for cystic fibrosis (the most common congenital disorder in the Greek population), congenital adrenal hyperplasia, and for biotinidase deficiency. From July 2007 to December 2009, 45,000 dried blood spots (DBS) were collected from infants born in Athens, Greece, and were analyzed. We present a report of our 30-month experience in the newborn screening area. The samples were tested for amino acidopathies, fatty acid oxidation disorders (FAOD), and organic acid metabolic disorders by applying flow injection analysis-electrospray ionization-tandem mass spectrometry (FIA-ESI-MS/MS); for cystic fibrosis by immunoreactive trypsinogen (IRT) measurement (time-resolved fluoroimmunoassay); for congenital adrenal hyperplasia by fluoroimmunoassay to measure the 17 hydroxy-progesterone level; and for biotinidase deficiency using a colorimetric method and a semiquantitative fluoroimmunoassay to determine biotinidase activity. Sample analysis resulted in establishing cutoff values for the respective disease markers for the first time in the Greek population. Four infants were identified with cystic fibrosis, two with congenital adrenal hyperplasia, two with phenylketonuria (PKU), one with medium-chain acyl CoA dehydrogenase deficiency (MCADD), and one with biotinidase deficiency. To the best of our knowledge, this is the first article reporting the status ofexpanded newborn screening in Greece. © SSIEM and Springer 2010.


Thodi G.,Neoscreen Ltd | Molou E.,Neoscreen Ltd | Georgiou V.,Neoscreen Ltd | Loukas Y.L.,National and Kapodistrian University of Athens | And 6 more authors.
Journal of Human Genetics | Year: 2011

Late-onset multiple carboxylase deficiency, also known as biotinidase (BTD) deficiency, is an autosomal recessively inherited disorder of biotin metabolism. Its early diagnosis and treatment seems that it can even fully prevent its various clinical manifestations. Mutations in the BTD gene scattered throughout its coding region have been detected in patients ascertained either through newborn screening or clinically. From March 2010 up to June 2011, 18 954 Greek neonates were subjected to biochemical determination of BTD activity through a semiquantitative fluoroimmunoassay. Subsequently, the first cohort of our suspected samples was further tested for the presence of aberrations associated either with partial or profound BTD deficiency through sequencing of the coding region of the BTD gene, including splice-site junctions. On the basis of the molecular data derived from the study of our first cohort of suspected samples, a panel of four mutations, most frequently encountered in the Greek population, was created, and a rapid, reliable and cost-effective real-time-based genotyping assay for the detection of these mutations was developed. This is the first report about the BTD mutational spectrum in Greece, and it could be a beneficial utility in the differential clinical diagnosis of BTD deficiency. © 2011 The Japan Society of Human Genetics All rights reserved.


PubMed | Neoscreen Ltd
Type: Journal Article | Journal: Journal of human genetics | Year: 2011

Late-onset multiple carboxylase deficiency, also known as biotinidase (BTD) deficiency, is an autosomal recessively inherited disorder of biotin metabolism. Its early diagnosis and treatment seems that it can even fully prevent its various clinical manifestations. Mutations in the BTD gene scattered throughout its coding region have been detected in patients ascertained either through newborn screening or clinically. From March 2010 up to June 2011, 18954 Greek neonates were subjected to biochemical determination of BTD activity through a semiquantitative fluoroimmunoassay. Subsequently, the first cohort of our suspected samples was further tested for the presence of aberrations associated either with partial or profound BTD deficiency through sequencing of the coding region of the BTD gene, including splice-site junctions. On the basis of the molecular data derived from the study of our first cohort of suspected samples, a panel of four mutations, most frequently encountered in the Greek population, was created, and a rapid, reliable and cost-effective real-time-based genotyping assay for the detection of these mutations was developed. This is the first report about the BTD mutational spectrum in Greece, and it could be a beneficial utility in the differential clinical diagnosis of BTD deficiency.


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).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.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.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.

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