The 8th ISNS European Neonatal Screening Regional Meeting : 4–6 November, 2012, Budapest, Hungary

UNSPECIFIED (2012) The 8th ISNS European Neonatal Screening Regional Meeting : 4–6 November, 2012, Budapest, Hungary. ORVOSI HETILAP, 153 (SP3). pp. 5-43. ISSN 0030-6002 (nyomtatott); 1788-6120 (elektronikus)

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Abstract

Plenary Lecture: 1. Sabina Gallati: Genotype-phenotype association in Cystic Fibrosis (CF) – The Impact of Immunoreactive Trypsinogen (IRT) Neonatal Screening: A Continuous Challenge: 1. J. Gerard Loeber: The Recommendations of the 2011 European Survey on Neonatal Screening, and Now What? 2. Rodney Pollitt: Defining the Aims of Newborn Screening: Fuzz or Focus? 3. R. Rodney Howell - Michele A. Lloyd-Puryear: Current Newborn Screening Practices Across the Globe: Can We Standardize? 4. Kee Chan: A Logic Model for Genome Sequencing in Newborn Screening Programs (GNBS) 5. Jill Levy-Fisch: Newborn Screening – Video from Save Babies Through Screening Foundation Cystic Fibrosis: 1. Kevin W. Southern: The Challenges of Establishing Newborn Screening for CF Across Europe 2. Peter Schielen - Bert Elvers - J. Gerard Loeber [et al.]: Newborn Screening for Cystic Fibrosis in The Netherlands 3. Geraldine Roche - Claire Greenwood - Deirdre Cooney [et al.]: Newborn Screening for CF in Ireland – The First Year Experience 4. Agnieszka Sobczynska-Tomaszewska - Mariusz Oltarzewski - Kamila Czerska [et al.]: Newborn Screening for Cystic Fibrosis – Polish Four Years’ Experience with CFTR-EDA Strategy 5. Emma Lundman - Olav Trond Storrøsten - Rolf D. Pettersen: Using Population Specific CFTR Disease Causing Mutation Data for Implementation of 3. Tier Cystic Fibrosis Screening in Norway Free Presentations: 1. W. Harry Hannon: A Global Standard: Blood Collection on Filter Paper for Newborn Screening Programs (LA04-A6)-- New 2012 Edition 2. Bradford Therrell - W. Harry Hannon: Issues and Recommendations in the US Regarding the Retention and Use of Dried Bloodspot Specimens After Newborn Screening 3. Janet Marcadier - Jennifer Milburn - Beth Potter [et al.]: Newborn Screening in Ontario: Process for Addition and Review 4. Dimitar Gavrilov - Coleman Turgeon - Mark Magera [et al.]: Determination of Ethylmalonic Acid, Methylsuccinic Acid, Glutaric Acid, 3-Hydroxyglutaric Acid, and 2-Hydroxyglutaric Acid in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry 5. Eva Hlidkova - Lukáš Najdekr - David Friedecky [et al.]: Identification of Novel Biomarkers of Medium Chain Acyl-CoA Dehydrogenase Deficiency Using Untargeted Metabolomic Approach 6. Denis C. Lehotay - Braden Fitterer - Nick Antonishyn [et al.]: Integration of Molecular and Biochemical Methods of Newborn Screening in Saskatchewan 7. Sarah Smith - Joan Mackenzie - E. Chalmers E: Evaluation of a Selective Screening Strategy for Sickle Cell Disorder in the Scottish Newborn Population Lysosomal Storage Disorders: 1. David Kasper: Screening for Lysosomal Storage Disorders: Clinical Considerations and Challenges 2. Arndt Rolfs: Introduction of a New Method of LSD Screening 3. Adriana M. Montaño: Newborn Screening for Mucopolysaccharidoses 4. Dietrich Matern - Devin Oglesbee - Fred Lorey [et al.]: Newborn Screening (NBS) for Lysosomal Storage Disorders (LSD), Friedreich Ataxia, Wilson Disease and X-Adrenoleukodystrophy. A Comparative Effectiveness Study National Screening Programs: 1. Júlia Dénes - Eszter Szabó - Ildikó Szatmári [et al.]: National Screening Programs – Developments at the Budapest Screening Centre 2. Maria Knapkova - Svetozar Dluholucky - Miroslava Zahorcova: Newborn Screening in Slovakia – What News 3. Dana Teodora Anton - Liliana Maria Iliescu - Georgeta Diaconu: Results of Implementation of Newborn Screening Programme in the North-East Part of Romania 4. Natalia Usurelu - Vasile Burgoci - Kiril Boiciuc [et al.]: Phenylketonuria in Moldova – Neonatal Screening About 20 Years 5. Zuhair Rahbeeni - Amal Al-Hashim - Ali Al-Odaib: Neonatal Screening Program in Kingdom of Saudi Arabia: 7 Years Experience, Positive Impact on Developmental Milestone and Compliance to Diet 6. Hilde Laeremans: Neonatal screening in Belgium 7. Ulrika von Döbeln: Neonatal screening in Sweden 8. A. Chodunova - P. Novikov - V. Mitkin: The First Results of Expanded Newborn Screening for Inherited Metabolic Diseases in the Russian Federation 9. Mari-Liis Uudelepp - M. Teder-Laving: Newborn Screening in Estonia: Current Situation and Future Developments 10. Rolf D. Pettersen: Expanded Newborn Screening in Norway Congenital Adrenal Hyperplasia: 1. Toni Torresani: Screening for CAH: How to Avoid Not Necessary Recalls? 2. Iva Stoeva - Antoaneta Kostova - Ani Aroyo [et al.]: The 17 OHP Neonatal Screening in Bulgaria: First Results 3. Heather Brown - Claudia Rossi - Lisa Calton: Quantification of 17-Hydroxyprogesterone from Dried Blood Spots Using Liquid Chromatography Tandem Mass Spectrometry 4. Ingjerd Saeves - Jens Vejlemand Joergensen - Rolf Dagfinn Pettersen: Newborn Screening for Congenital Adrenal Hyperplasia: Comparison of 1. Tier Immunoassay on GSP and 2. Tier Hormone Assessments with Tandem Mass Spectrometry 5. Zoltán Lukács - Paulina Nieves Cobos: Evaluation of the Luminex NeoPlex4 and NeoPlex System for Analysis of T4, TSH, 17-OHP and IRT for Newborn Screening for Congenital Hypothryroidism, Congenital Adrenal Hyperplasia, and Cystic Fibrosis 6. Paul Griffiths - Deborah Finnerty - Russell Denmeade: An Evaluation of the Luminex NeoPlex Analyser in a Routine Newborn Screening Laboratory Severe Combined Immune Deficiency: 1. László Maródi: Severe Combined Immunodeficiencies 2. Lennart Hammarström: Advances in Neonatal Screening for Primary Immunodeficiency Diseases 3. Fred Lorey: Newborn Screening for Severe Combined Immune Deficiency (SCID) in California 4. Stephan Borte: Screening for SCID and XLA Using High-Throughput Triplex Real-Time PCR Congenital Hypothyroidism: 1. Iva Stoeva - Antoaneta Kostova - Radoslava Emilova [et al.]: The Bulgarian Neonatal Thyroid Screening (NTS) Programme 1993–2011 2. Viacheslav Mitkin - Elena Denisenkova - Valentina Mitkina: Incidence of Congenital Hypothyroidism (CH) in Moscow City: The Results of Neonatal Screening for 5 Years 3. Nina Gusina - Alexander Zinovik - Tatyana Kolkova: The Results of Population Neonatal Screening for Congenital Hypothyroidism in Belarus 4. Violeta Anastasovska - Mirjana Kocova: Ten Years Experience with Neonatal Screening of Congenital Hypothyroidism in the Republic of Macedonia Posters: 1. Scott Palubiak - Michele Lloyd-Puryear - Bradford Therrell [et al.]: Survive and Thrive: A Global Alliance 2. Zuhair Rahbeeni - Amal Hashem - Mohamed Soukri: The Impacts of Early Diagnosis of Inherited Metabolic Disorders on the Outcome 3. Ali Al-Odaib - Ayman Al-Sulaiman - Mohammad Saeedi [et al.]: Evaluating Healthcare Professional’ Views Towards Newborn Screening in Saudi Arabia 4. Issam Khneisser - Pascale Karam - Salim Adib [et al.]: Newborn Screening for Inborn Errors of Metabolism: A Possible Cost-Saving Model 5. Petr Chrastina - Renata Balounova - Josef Bartl [et al.]: How to Set Markers and Cut-Offs for Neonatal Screening of Inherited Metabolic Disorders 6. Janet Marcadier - Jennifer Milburn - Christine Davies [et al.]: When Infants Screen Positive for Multiple Diseases 7. Jennifer Milburn - Janet Marcadier - Isabella Rogers [et al.]: Alerts of Potential Missed Screens in Ontario, Canada 8. Felix Votava - Petr Chrastina - Viktor Kožich [et al.]: Expansion of Neonatal Screening in the Czech Republic 9. Dobry Dimitrov - Maria Ivanova - Ivanka Sinigerska [et al.]: MS/MS Technology for Neonatal Screening and Selective Screening Program of Inherited Metabolic Diseases in Bulgaria 10. Dobry Dimitrov - Maria Ivanova - Ivanka Sinigerska [et al.]: Improvements in the Bulgarian Newborn Screening Program and Selective screening for Inherited Metabolic Diseases by Tandem Mass Spectrometry 11. Isabela Tarcomnicu - Andreea Rusu - Vasilica Plaiasu [et al.]: Extended Newborn Screening in Romanian Population – A Statistical Evaluation After One year of Experience 12. Otilia Marginean - Marinela Lesovici - Andreea Militaru-Somogy [et al.]: Actual State of Neonatal Screening in South–West of Romania 13. Radoslava Vazharova - Irena Bradinova - Maria Ivanova [et al.]: Bulgarian Mass Newborn Screening Programme for PKU and Other Inborn Errors of Metabolism – New Perspectives 14. Ágnes Schuler - Péter Reismann - Erika Kiss [et al.]: Maternal Phenylketonuria: Report from the Budapest Registry 1975–2011 15. Erika Kiss - János Bókay - László Szőnyi: Which Are the Most Important Influencing Factors on the Phenylketonuria Patients to the Long-Range Adherence of Phenylalanine Restricted Diet? 16. Sanna Rönnmark - Liisa Meriö - Maija-Liisa Mäkinen [et al.]: Development of an Automated Phenylalanine Assay for Screening of Phenylketonuria 17. Mirjana Kocova - Violeta Anastasovska: Macedonian Newborns with Congenital Hypothyroidism Detected by Thyroid Neonatal Screening During 2002–2011 18. István Lénárt - Melinda Rózsa - Aranka László [et al.]: Screening of Galactosaemia at the Screening Centre University of Szeged 19. Telle Ukonaho - Jonne Vaarno - Ville Laitala [et al.]: Automated Total Galactose (TGal) Assay for Newborn Screening 20. Johanna Tamminen - Elina Tuomola - Pekka Mattsson [et al.]: Development of an Automated Biotinidase (BTD) Assay for Newborn Screening 21. Svetozár Dluholucký - Maria Knapková - Marek Svitok: Ethnic Differencies in Immunoreactive Trypsinogen Levels in Newborn Screening for Cystic Fibrosis 22. Andrey Kirov - Albena Todorova - Tihomir Todorov [et al.]: CYP21A2 Mutations Screening Strategy in Bulgarian CAH Patients 23. Trine Tangeraas - Dionne Navarrete - Ingjerd Saeves [et al.]: Pivmecillinam Treatment and False Positive Screening Results for Isovaleric Acidemia and Carnitine Uptake Deficiency 24. Claudia Carducci - Teresa Giovanniello - Carla Carducci [et al.]: A New Mutation for a Maternal Case of MCC Deficiency 25. Antal Dezsőfi - Ágnes Molnár - Ildikó Szatmári [et al.]: 3-Methylcrotonyl CoA Carboxylase Deficiency. One Center Experience 26. Anna Tylki-Szymanska - Agnieszka Jurecka: Wolman Disease – Fatal Infantile Lysosomal Disease due to Acid Lipase Deficiency 27. Emilia Ursu - Valentin Ordodi - Eszter Karg [et al.]: Genotype–Phenotype Correlation in Haemophilia – Preliminary Study 28. Michael Svatoň - Anna Šedivá - Ester Mejstříková [et al.]: Differential Diagnostics of Immunodeficiency Using Antigen Receptor Excision Circles in Neonatal Screening Cards and in Postnatal Peripheral Blood 29. Petri Huhtinen - Hanna-Mari Raussi - Minna Sjoroos [et al.]: A Simple Method for Multiplexed Homogeneous Detection of TREC and Beta-Actin DNA from Dried Blood Spots

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