Literature DB >> 28752064

Comments on: Kocova M, Anastasovska V. Comments on 'Newborn screening in southeastern Europe' published in Molecular Genetics and Metabolism, 2014 Sept-Oct;113(1-2):42-45 by U. Groselj, M. ZerjavTansek, A. Smon, N. Angelkova, D. Anton, I. Baric, M. Djordjevic, L. Grimci, M. Ivanova, A. Kadam, V. Mulliqi Kotori, H. Maksic, O. Marginean, O. Margineanu, O. Milijanovic, F. Moldovanu, M. Muresan, S. Murko, M. Nanu, B. Repic Lampert, M. Samardzic, V. Sarnavka, A. Savov, M. Stojiljkovic, B. Suzic, R. Tincheva, H. Tahirovic, A. Toromanovic, N. Usurela, T. Battelino. Mol Genet Metab Rep. 2015 Nov 12;5:110. doi: 10.1016/j.ymgmr.2015.11.003. eCollection 2015 Dec. Journal: Molecular Genetics and Metabolism Reports.

Z Gucev1.   

Abstract

Entities:  

Keywords:  Newborn screening; Southeastern Europe; Survey

Year:  2017        PMID: 28752064      PMCID: PMC5519228          DOI: 10.1016/j.ymgmr.2017.07.005

Source DB:  PubMed          Journal:  Mol Genet Metab Rep        ISSN: 2214-4269


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Dear Sir, I have additional commentary to the letter which appeared in Molecular Genetics and Metabolism [1]. The authors of the letter comment a study for assessment of the current state of newborn screening (NBS) in the region of south-eastern Europe [2] previously published in your journal [2]. The authors correctly deny that PKU newborn screening was not introduced in Macedonia [1]. However, in Macedonia a selective newborn screening for inborn errors of metabolism, including PKU has been first implemented in 2012. As a matter of fact, newborn screenings for PKU and congenital adrenal hyperplasia (CAH) started in May 2002 and lasted until December 2004 year, with a total of 27,926 screened patients. No affected children were found. ELISA was used, with quality external control from the Dutch RIVM – diagnostic laboratory for infection diseases and perinatal screening. Unfortunately, the authorities ceased to finance those screenings. In addition, the first CH and PKU screening in Macedonia, a result of noble endeavor by Dr. Nikola Stojanovski [3], started in the 1978 for PKU and in late 80s for both PKU and CH in the town and county of Veles Macedonia, while the laboratory analysis was performed in Zagreb, Croatia. Both screening lasted for a decade, discovering several patients with PKU and CH. In conclusion, sustaining uninterrupted NS in Macedonia emerges as a main problem. NS must be a continuous activity. It is fortunate that NS for HT was not interrupted since 2002.
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1.  Newborn screening in southeastern Europe.

Authors:  Urh Groselj; Mojca Zerjav Tansek; Andraz Smon; Natalija Angelkova; Dana Anton; Ivo Baric; Maja Djordjevic; Lindita Grimci; Maria Ivanova; Adil Kadam; Vjosa Mulliqi Kotori; Hajrija Maksic; Oana Marginean; Otilia Margineanu; Olivera Milijanovic; Florentina Moldovanu; Mariana Muresan; Simona Murko; Michaela Nanu; Barbka Repic Lampret; Mira Samardzic; Vladimir Sarnavka; Aleksei Savov; Maja Stojiljkovic; Biljana Suzic; Radka Tincheva; Husref Tahirovic; Alma Toromanovic; Natalia Usurelu; Tadej Battelino
Journal:  Mol Genet Metab       Date:  2014-08-01       Impact factor: 4.797

2.  Comments on 'Newborn screening in southeastern Europe' published in Molecular Genetics and Metabolism, 2014 Sept-Oct;113(1-2):42-45 by U. Groselj, M. ZerjavTansek, A. Smon, N. Angelkova, D. Anton, I. Baric, M. Djordjevic, L. Grimci, M. Ivanova, A. Kadam, V. Mulliqi Kotori, H. Maksic, O. Marginean, O. Margineanu, O. Milijanovic, F. Moldovanu, M. Muresan, S. Murko, M. Nanu, B. Repic Lampert, M. Samardzic, V. Sarnavka, A. Savov, M. Stojiljkovic, B. Suzic, R. Tincheva, H. Tahirovic, A. Toromanovic, N. Usurela, T. Battelino.

Authors:  Mirjana Kocova; Violeta Anastasovska
Journal:  Mol Genet Metab Rep       Date:  2015-11-12
  2 in total

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