Δημοσιεύσεις του ΙΥΠ για το νεογνικό έλεγχο (έτη 2000-2010). - Βιβλιογραφία

Δημοσιεύσεις του ΙΥΠ για το νεογνικό έλεγχο (έτη 2000-2010)

 

1.    Screening for Congenital Hypothyroidism: The Significance of Threshold Limit in False-Negative Results.Mengreli C, Kanaka-Gantenbein C, Girginoudis P, Magiakou MA, Christakopoulou I, Giannoulia-Karantana A, Chrousos GP, Dacou-Voutetakis C. J Clin Endocrinol Metab. 2010  95:4283-4290

2.    The effect of diet on total antioxidant status, ceruloplasmin, transferrin and ferritin serum levels in phenylketonuric children.Schulpis KH, Papastamataki M, Stamou H, Papassotiriou I, Margeli A. Acta Paediatr. 2010 May 19.

3.    Management of phenylketonuria in Europe: survey results from 19 countries.Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen F; European PKU centers. Mol Genet Metab. 2010 Feb;99(2):109-15. Epub 2009 Sep 13.

4.    The effect of diet on Paraoxonase 1/Arylesterase activities in patients with disorders of galactose metabolism.Schulpis KH, Karikas GA, Bartzeliotou A, Papakonstantinou ED, Kalogerakou M, Tsakiris S. Clin Endocrinol (Oxf). 2007 Nov;67(5):687-92. Epub 2007 Jun 25.

5.    Obesity and attenuated adiposity rebound in children with congenital hypothyroidism. Normalization of BMI values in adolescents.Livadas S, Magiakou MA, Mengreli C, Girginoudis P, Galani C, Smyrnaki P, Kanaka-Gantenbein C, Xekouki P, Chrousos GP, Dacou-Voutetakis C.Horm Metab Res. 2007 Jul;39(7):524-8.

6.    Serum paraoxonase/arylesterase activities in phenylketonuric patients on diet.Schulpis KH, Bartzeliotou A, Tsakiris S, Gounaris A, Papassotiriou I. Eur J Clin Nutr. 2007 Jun;61(6):803-8. Epub 2007 Jan 3.

7.    Erythrocyte membrane Na+,K+-ATPase and Mg2+-ATPase activities in subjects with methylenetetrahydrofolate reductase (MTHFR) 677 C-->T genotype and moderate hyperhomocysteinaemia. The role of L-phenylalanine and L-alanine.Schulpis KH, Giannoulia-Karantana A, Papaconstantinou ED, Parthimos T, Tjamouranis I, Tsakiris S. Clin Chem Lab Med. 2006;44(4):423-7.

8.    8-hydroxy-2-desoxyguanosine serum concentrations as a marker of DNA damage in patients with classical galactosaemia.Schulpis KH, Papassotiriou I, Tsakiris S.Acta Paediatr. 2006 Feb;95(2):164-9.

9.    Erythrocyte membrane acetylcholinesterase, Na+, K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia.Tsakiris S, Michelakakis H, Schulpis KH.Acta Paediatr. 2005 Sep;94(9):1223-6.

10.  Suckling rat brain regional distribution of acetylcholinesterase activity in galactosaemia in vitro.Marinou K, Tsakiris S, Tsopanakis C, Schulpis KH, Behrakis P. Metab Brain Dis. 2005 Sep;20(3):227-36.

11.  Increased plasma adiponectin concentrations in poorly controlled patients with phenylketonuria normalize with a strict diet: evidence for catecholamine-mediated adiponectin regulation and a complex effect of phenylketonuria diet on atherogenesis risk factors.Schulpis KH, Papassotiriou I, Tsakiris S, Vounatsou M, Chrousos GP. Metabolism. 2005 Oct;54(10):1350-5.

12.  The protective effect of L-cysteine and glutathione on the adult and aged rat brain (Na+,K+)-ATPase and Mg2+-ATPase activities in galactosemia in vitro.Tsakiris S, Carageorgiou H, Schulpis KH. Metab Brain Dis. 2005 Mar;20(1):87-95.

13.  Suckling rat brain regional distribution of Na+,K+-ATPase activity in the in vitro galactosaemia: the effect of L-cysteine and glutathione.Marinou K, Tsakiris S, Tsopanakis C, Schulpis KH, Behrakis P. Metab Brain Dis. 2005 Mar;20(1):45-54.

14.  Low total antioxidant status is implicated with high 8-hydroxy-2-deoxyguanosine serum concentrations in phenylketonuria.Schulpis KH, Tsakiris S, Traeger-Synodinos J, Papassotiriou I. Clin Biochem. 2005 Mar;38(3):239-42.

15.  The effect of diet on total antioxidant status, erythrocyte membrane Na+,K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia.Schulpis KH, Michelakakis H, Tsakiris T, Tsakiris S. Clin Nutr. 2005 Feb;24(1):151-7.

16.  Mg2+-ATPase activity in suckling rat brain regions in galactosaemia in vitro. L-Cysteine and glutathione effects.Marinou K, Tsakiris S, Tsopanakis C, Schulpis KH, Behrakis P. Toxicol In Vitro. 2005 Mar;19(2):167-72.

17.  Morning preprandial plasma ghrelin and catecholamine concentrations in patients with phenylketonuria and normal controls: evidence for catecholamine-mediated ghrelin regulation.Schulpis KH, Papassotiriou I, Vounatsou M, Karikas GA, Tsakiris S, Chrousos GP. J Clin Endocrinol Metab. 2004 Aug;89(8):3983-7.

18.  The association of serum lipids, lipoproteins and apolipoproteins with selected trace elements and minerals in phenylketonuric patients on diet.Schulpis KH, Karakonstantakis T, Bartzeliotou A, Karikas GA, Papassotiriou I. Clin Nutr. 2004 Jun;23(3):401-7.

19.  Protective effect of L-cysteine and glutathione on the modulated suckling rat brain Na+, K+, -ATPase and Mg2+ -ATPase activities induced by the in vitro galactosaemia.Tsakiris S, Schulpis KH, Marinou K, Behrakis P. Pharmacol Res. 2004 May;49(5):475-9.

20.  Serum levels of neural protein S-100B in phenylketonuria.Schulpis KH, Kariyannis C, Papassotiriou I.Clin Biochem. 2004 Jan;37(1):76-9.

21.  Transient congenital hypothyroidism due to maternal autoimmune thyroid disease.Mengreli C, Maniati-Christidi M, Kanaka-Gantenbein C, Girginoudis P, Vagenakis AG, Dacou-Voutetakis C. Hormones (Athens). 2003 Apr-Jun;2(2):113-9.

22.  Hyperthyrotropinemia during iodide administration in normal children and in children born with neonatal transient hypothyroidism.Markou KB, Paraskevopoulou P, Karaiskos KS, Makri M, Georgopoulos NA, Iconomou G, Mengreli C, Vagenakis AG. J Clin Endocrinol Metab. 2003 Feb;88(2):617-21.

23.  Evaluation of glucose-6-phosphate dehydrogenase activity in two different ethnic groups using a kit employing the haemoglobin normalization procedure.Reclos GJ, Schulpis KH, Gavrili S, Vlachos G. Clin Biochem. 2003 Jul;36(5):393-5.

24.  Effect of diet on plasma total antioxidant status in phenylketonuric patients.Schulpis KH, Tsakiris S, Karikas GA, Moukas M, Behrakis P. Eur J Clin Nutr. 2003 Feb;57(2):383-7.

25.  The in vitro effects of galactose and its derivatives on rat brain Mg2+-ATPase activity.Tsakiris S, Marinou K, Schulpis KH.Pharmacol Toxicol. 2002 Nov;91(5):254-7.

26.  Reduced acetylcholinesterase activity in erythrocyte membranes from patients with phenylketonuria.Tsakiris S, Schulpis KH, Tjamouranis J, Michelakakis H, Karikas GA. Clin Biochem. 2002 Nov;35(8):615-9.

27.  The effect of galactose metabolic disorders on rat brain Na+,K+-ATPase activity.Tsakiris S, Marinou K, Schulpis KH. Z Naturforsch C. 2002 Sep-Oct;57(9-10):939-43.

28.  Acetylcholinesterase activity and biogenic amines in phenylketonuria.Schulpis KH, Karikas GA, Tjamouranis J, Michelakakis H, Tsakiris S. Clin Chem. 2002 Oct;48(10):1794-6.

29.  Homocysteine and other vascular risk factors in patients with phenylketonuria on a diet.Schulpis KH, Karikas GA, Papakonstantinou E. Acta Paediatr. 2002;91(8):905-9.

30.  In vivo effects of high phenylalanine blood levels on Na+,K+-ATPase, Mg2+-ATPase activities and biogenic amine concentrations in phenylketonuria.Schulpis KH, Tjamouranis J, Karikas GA, Michelakakis H, Tsakiris S. Clin Biochem. 2002 Jun;35(4):281-5.

31.  Alanine reverses the inhibitory effect of phenylalanine on acetylcholinesterase activity.Tsakiris S, Schulpis KH.Z Naturforsch C. 2002 May-Jun;57(5-6):506-11.

32.  Changes of the brain synapses during aging. New aspects.Schulpis K, Doulgeraki A, Tsakiris S. Z Naturforsch C. 2001 Nov-Dec;56(11-12):921-9. Review.

33.  Scintigraphic evaluation of primary congenital hypothyroidism: results of the Greek screening program.Panoutsopoulos G, Mengreli C, Ilias I, Batsakis C, Christakopoulou I. Eur J Nucl Med. 2001 Apr;28(4):529-33.

34. Protective effect of L-phenylalanine on rat brain acetylcholinesterase inhibition induced by free radicals.Tsakiris S, Angelogianni P, Schulpis KH, Stavridis JC. Clin Biochem. 2000 Mar;33(2):103-6.

35.   The effect of galactose metabolic disorders on rat brain acetylcholinesterase activity.Tsakiris S, Schulpis KH.Z Naturforsch C. 2000 Sep-Oct;55(9-10):852-5.

36.   Plasma leptin concentrations in phenylketonuric patients.Schulpis KH, Papakonstantinou ED, Tzamouranis J.Horm Res. 2000;53(1):32-5.

37.   Glucose-6-phosphate dehydrogenase deficiency neonatal screening: preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening.Reclos GJ, Hatzidakis CJ, Schulpis KH.J Med Screen. 2000;7(1):46-51.

 

 

Βιβλιογραφία

 

1. Neonatal Screening For Inborn Errors of Metabolism. Eds Bickel H, Guthrie R, Hammersen G. Springer-Verlag Berlin, Heidelberg, New York,1980

2.   Pollitt RJ 2007 Introducing new screens: Why are we all doing different things?J Inherit Metab Dis 30:423-429

3.   AmericanCollegeof Medical Genetics 2006 Newborn screening: towards a uniform screening panel and system.Genet Med 8 (Supplement 1): 1S-252S

4.   Therrell BL, Adams J 2007 Newborn screening in North America.J Inherit Metab Dis 30: 447-465

5.   Missiou-Tsagaraki S, Schulpis K, Loumakou M 1988 Phenylketonuria in Greece: 12 year’s experience.J Mental Defic Res 32: 271-287

6.   Missiou-Tsagaraki S 1991 Screening for Glucose-6-phosphate dehydroganase deficiency as a preventive measure: Prevalence among 1,286,000 Greek newborn infants.J Pediatr 119:293-299

7.   Mengreli C, Kassiou K, Tsagaraki S, Pantelakis S 1981 Neonatal Screening for Hypothyroidism in Greece.Eur J Pediatr 137: 185-187

8.   Schulpis K, Papakonstantinou ED, Michelekakis H, Podskarbi T, Patsouras A, Shin Y 1997 Screening for galactosemia in Greece. Pediatric and Perinatal Epidemiology 11: 436-440

9.   Corbetta C, Weber G, Cortinovis F, Calebiro D, Passoni A, Vigone MC, Beck-Peccoz P, Chiumello G, Persani L 2009A7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of Congenital Hypothyroidism. Clin Endocrinol 71:739-745

10.  Kempers MJE, Lanting CI, van Heijst AFJ, van Trotsenburg ASP, Wiedijk BM, de Vijlder JJM, Vulsma T 2006 Neonatal Screening for Congenital Hypothyroidism Based on Thyroxine, Thyrotropin, and Thyroxine-Binding Globulin Measurement: Potentials and Pitfalls. J Clin Endocrinol Metab 91:3370-3376

11.  LaFranchi SH 2010 Newborn screening strategies for congenital hypothyroidism:an update. J Inherit Metab Dis March 2 DOI10.1007/s10545-010-9062-1 Epub ahead of print