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Submited on: 23 Oct 2010 12:58:03 AM GMT
Published on: 19 Sep 2010 03:57:20 PM GMT
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This opinion strresses the need of the implementation a neoantal screening for CH in regions like India that still lacks of its benefits.
Although references support the opinion may be that numbers on rate birth and expected cases per year would add some information aswellas to remember the incidence found in the small experiences done.
It is useful to aware pediatricians and endocrinologist on this subject .
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No
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1. Efectividad de dos programas de pesquisa para el diagn?stico del hipotiroidismo cong?nito (HC).L. Gru?eiro de Papendieck, S. Iorcansky, L. Prieto, A. Chiesa, M.A. Rivarola, C.Bergad?.Revista Hospital de Ni?os de Buenos Aires, Vol. XXXII- 137, 10-13, 1990. 2. Valoraci?n de la Superficie Epifisaria de la rodilla: ?ndice de edad de comienzo del Hipotiroidismo Neonatal (HN).L. Gru?eiro, A. Chiesa, C. Bergad?.Archivos Argentinos de Pediatr?a 1991, 89; 91-94. 3. Growth Follow up in 100 children with Congenital Hypothyroidism before and during treatment.A.Chiesa, L. Gru?eiro, A. Keselman, J.J. Heinrich, C. Bergad?.Journal of Pediatric Endocrinology, vol. 7, N? 3, 211-217. 1994. 4. Hiperfenilalaninemias ? Fisiopatolog?a y pesquisa.A.Chiesa, L. Gru?eiro, L. Prieto, C. Bergad?.Revista del Hospital de Ni?os de Buenos Aires, 1994.Vol. XXXVI N? 157, p. 127-131. 5. Pesquisa Neonatal de Hipertiroidismo Cong?nito (HC). Experiencia y Perspectivas.L. Gru?eiro, A. Chiesa, L. Prieto, C. Bergad?.Revista del Hospital de Ni?os de Buenos Aires, 1994.Vol. XXXVI N? 157, p. 122-127. 6. Pesquisa Neonatal de fenilcetonuria e hiperfenilalaninemias.Diagn?stico y seguimiento.A.Chiesa, L. Gru?eiro, L. Prieto, G. Valle.Archivos Argentinos de Pediatr?a, 1994, vol: 92, 338-343. 7. Screening Neonatal de Hipotiroidismo Cong?nito: 8 a?os de experiencia. L. Gru?eiro, A. Chiesa, L. Prieto, C. Mirabello, L. Bernal, C. Bergad?.Archivos Argentinos de Pediatr?a, 1994, Vol. 92. , 277, 282. 8. Alteraciones tiroideas en ni?os y adolescentes diab?ticos insulino dependientes.L. Gru?eiro de Papendieck, A. Chiesa, L. Trifone, I. Bergad?, H. Raizman,C. Bergad?.Acta Pedi?trica Espa?ola, 1995, Vol.53, N? 6, 362-365. 9. Pesquisa Neonatal de Hipotiroidismo cong?nito (HC):Experiencia en sangre de cord?n.L. Gru?eiro de Papendieck, L. Bernal, A. Chiesa, L. Prieto, C. Bergad?.Rev. Hosp. Mat. Inf. Ram?n Sard?, 1995, XIV, N? 2, 87-92. 10. Early newborn screening for congenital Hypothyroidism: TSH levels in the first 48 hours of life.L. Gru?eiro de Papendieck, A. Chiesa, L. Prieto, S. Bengolea, A. Perez, A. LaRosa, A.Serjan,J.Tavosnanska, C.Bergad?.Screening 1995. 4:149-154. 11. Final height in longterm Primary Hypothyroidism.A.Chiesa, L. Gru?eiro de Papendieck, A. Keselman, J. Heinrich, C. Bergad?Journal of Pediatric Endocrinology 1998, N? 1, vol 11. 51-58 12. ?Qu? efectos sobre la tiroides del reci?n nacido puede tener la utilizaci?n de desinfectantes iodados? ( Comentario)L.Gru?eiro de Papendieck y A. Chiesa.Archivos Argentinos de Pediatr?a, Vol. 93, N? 4, 1995, p.287-288. 13. Valores de referencia de hormonas tiroideas.L. Prieto, L. Gru?eiro de Papendieck, A. Chiesa, L. Bernal, C. Bergad?.Acta Pedi?trica Espa?ola ? Mayo 97, Vol. 55. , N? 25, pag. 199-203. 14. Neonatal Screening for PKU and Hyperfenylalaninemia (HFA): An experience in Argentina.A.Chiesa, L. Gru?eiro de Papendieck, L. Prieto, A. Keselman, S. Goso, M. N. Nadal, C. Bergad?.Proceedings 3rd. International Society Neonatal Screening Meeting 1997,p. 291-292. 15. Screenings for Congenital Hypothyroidism (CN): Experience in Cord blood.L. Prieto, L. Gru?eiro de Papendieck, A. Chiesa. , C. Bergad?.Proceedings 3rd. International Society Neonatal Screening Meeting 1997,p. 271-272.Eds. : H. Levy, R. Hermos, G. Grady. 16. 17 Alpha OH Progesterone (17 Alpha OHP) concentration in blood spots during the first days of life,Proceedings 3rd. International Society Neonatal Screening Meeting 1997,p. 207-208.Eds. : H. Levy, R. Hermos, G. Grady. 17. A new Point Mutation (M 313 T) in the Thyroid Hormone Receptor Gene in a Patient with Resistance to Thyroid Hormone.M. Di Fulvio, A. Chiesa, S. Baranzini, L. Gru?eiro de Papendieck, H. Targovnik Thyroid 7: 1 Feb. 1997, 43-44. 18. Congenital Adrenal Hyperplasia (CAH) an early new born Screening: 17 OH Progesterone during the first days of life.L. Gru?eiro de Papendieck, L. Prieto, A. Chiesa, S. Bengolea, C. Bergad?. Journal of Medical Screening 1998; 5: 24 - 26. 19. Pesquisa Neonatal de Hipotiroidismo Cong?nito en la Argentina: An?lisis sobre medio mill?n de ni?os estudiados. L. Gru?eiro de Papendieck, A. Chiesa, L. Prieto, A. Keselman, G. Ruarte, S. Grosso, C. Bergad?. Rev. Hosp. Ni?os Buenos Aires 1997; XXXIX, 175: 339 ? 344. 20. Nocturnal TSH surge and TRH test response in the evaluation of thyroid axis in hypothalamic pituitary disorders in childhood.L. Gru?eiro de Papendieck, A. Chiesa, A. Mart?nez, J.J. Heinrich, C. Begad?.Horm Res 1998, 50:252-257. 21. Utilidad del nivel basal de TSH y respuesta a la prueba TRH con m?todos sensibles en pediatr?a.A.Chiesa, L. Gru?eiro de Papendieck, M.G. Ropelato, C. Bergad?.Acta Pedi?trica Espa?ola .Acta Pedi?trica Espa?ola 1998 56:629-633 22. Prevenci?n Secundaria de Errores Cong?nitos del Metabolismo: pesquisa Neonatal L. Gru?eiro ? Papendieck, A. Chiesa, L. Prieto, C. Bergad?.Bolet?n de la Academia Nacional de Medicina de Uruguay 23. Medicina Preventiva: Pesquisa Neonatal de Hipotiroidismo Cong?nito. L. Gru?eiro ? Papendieck, A. Chiesa, L. Prieto, C. Bergad?Prensa M?dica Argentina 2002,89(2) pag 151-158 24. Thyroxine (T4) and free Thyroxine (FT4) in filter paper samples of preterm infants during the first two weeks of life.L. Gru?eiro ? Papendieck, , L. Prieto, A. Chiesa S. Bengolea G Bossi C. Bergad?.Journal of Medical Screening 2000;7:78-81 25. Evaluaci?n de los trastornos de la funcion hipotalamo hipofisotiroidea en la infancia y adolescencia: Variaci?n circadiana de TSH. L. Gru?eiro-Papendieck, A. Chiesa, C. Bergada.Anales de la Fundaci?n A. J. Roemmers. 1996;7,285-301. 26. Pesquisa Neonatal de Hiperplasia Suprarrenal Cong?nita (HSC), determinaci?n en la l?nea de corte de acuerdo a la edad gestacional y d?a de obtenci?n de la muestra. Gru?eiro Papendieck L., Chiesa A., Prieto L, Bergad? C. Anales de la Fundaci?n Roemmers, vol.XIV, Ed.Prensa M?dica Argentina, p?g. 191-210, nov. 2001. 27. SAP Comit? Nacional de Endocrinolog?a L.Gru?eiro Papendieck, A.Chiesa, V.Pipman, I.Bergad?, M.Gryngarten, M.Escobar, S.Bemgolea, G.Alonso. Recomendaciones para los programas de pesquisa neonatal de hipotiroidismo cong?nito. Archivos Argentinos de Pediatr?a, 2000, 98(4), p?g. 244-246. 28. Pilot Neonatal Screening Program for Congenital Adrenal Hyperplasia in Argentina. Preliminary results and methodogical adjustements.L.Gru?eiro Papendieck, L.Prieto, A.Chiesa, S.Bengolea, G.Boris, C.Bergad? Hormone Research 2001, 55: 271-277. 29. Thyroid Dysfunction and high TSH levels in children with Down Syndrome (DWS). L.Gru?eiro Papendieck, A.Chiesa,M.G.Bastida, G.Alonso, G.Finkelstain, J.Heinrich. Journal of Pediatric, Endocrinology and Metabolism 15 1543-1548 (2002). 30. Pediatric Graves disease. Outcome and treatment. Gru?eiro L. Chiesa A. Finkielstain G. Heinrich JJ. Journal of pediatric Endocrinology and metabolism .2003,(16) 1249-1255. 31. Programa piloto de Pesquisa Neonatal de la Fibrosis Qu?stica. L.Prieto, A.Chiesa, V.Mendez, A.Santilli, L.Gru?eiro-Papendieck. Revista Hospital de Ni?os de Buenos Aires 2002, vol.44, n?199, p.207-214. 32. Almacenaje y estabilidad de la 17OH Progesterona en muestra de sangre seca en papel de filtro para los programas de pesquisa neonatal en la Hiperplasia Suprarrenal Cong?nita. M.V.Mendez, A.Santilli, L.Prieto, P.Nazar, S.Rodr?guez, A.Chiesa, L.Gru?eiro-Papendieck. Revista de la Asociaci?n Bioqu?mica Argentina 2002, vol.66, n?1, p.5-8. 33. Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect. Rivolta CM, Esperante SA, Gru?eiro-Papendieck L, Chiesa A, Moya CM, Domen? S, Varela V, Targovnik HM. Hum Mutat 2003, sep; 22(3): 259. 34. Congenital Secondary Hypothyroidism due to a mutation C105VFS 114X Thyrotropin ? B Mutation: Genetic Study of five unrelated Families from Switzerland and Argentina. Delado?y J, Vuissoz JM, Domen? HM, Malik N, Gru?eiro-Papendieck L, Chiesa A, Heinrich JJ, Mullis PE. Thyroid 13, n?6, 2003, 553-559. 35. The C105 FS 114X is the prevalent Thyrotropin B-Subunit Gene Mutation in argentinean patients with Congenital Central Hypothyroidism. Domen? HM, Gru?eiro-Papendieck L, Chiesa A, Iorcansky S, Herzovich VC, Papazian R, Fordaz V, Prieto L, Sans? G, Scaglia P, Br? M, Chamoux A, Heinrich JJ. Hormone Research 2003; 61(1) 41-46 36. Pesquisa Neonatal de Hiperplasia Suprarrenal Cong?nita, determinaci?n de l?nea de corte de acuerdo a la edad gestacional , peso de nacimiento y d?a de obtenci?n de la muestra. L.Gru?eiro-Papendieck, A.Chiesa, L.Prieto, C.Bergada.Anales de la Fundaci?n A.J. Roemmers, vol. XIV, p.197-210, 2001. 37. Dietary approach in PKU: The best method?. A Chiesa C Fraga A Keselman, L Prieto, l Gru?eiro Papendieck. In ? The compilation of papers from the seventh International Metabolic Dietitians Meeting SHS Publications Junio 2003 38. TSH neonatal levels as an index of iodine sufficiency: Differences related to time of screening sampling and methodology" L Gru?eiro Papendieck, A Chiesa, V Mendez, S Bengolea, L Prieto. Hormone Research 2004; 62:272-276. 39. Efficacy of congenital hypothyroidism neonatal screening in preterms less than 32 weeks of gestational age more evidence. L Gru?eiro Papendieck, A Chiesa, Mendez V, Santilli A, L Prieto. Journal of Pediatric Endocrinology an Metabolism ,18.373-377 (2005) 40. Determinaci?n de ioduria en la poblaci?n materno infantil de la ciudad de BuenosAires.L.Prieto.V.Mendez,A.Chiesa,S.Bengolea.L.Gru?eiro -Papendieck. Revista de la Sociedad de Endocrinolog?a y metabolismo. RAEM. Vol 42, 131-136 2005 41. Contribuci?n de la determinaci?n de tiroglobulina s?rica (TG) al di?gnostico del Hipotiroidismo Cong?nito detectado por pesquisa neonatal. P.Papendieck, A.Chiesa, G,Ballerini, G.Ropelato,L,Gru?eiro-Papendieck. Revista del Hospital de Ni?os de Buenos Aires Revista del Hospital de Ni?os de Buenos Aires.(2005)47;215:295-299 42. Importancia de la pesquisa neonatal de Hipotiroidismo Cong?nito en recien nacidos pretermino : fallas y descuidos. A.Chiesa, L.Prieto, V.Mendez, A. Santilli, S,Bengolea,L.Gru?eiro-Papendieck. Revista del Hospital de Ni?os de Buenos Aire Revista del Hospital de Ni?os de Buenos Aires(2006,48.217:80-84 . 43. Two novel inactivating mutations (pQ 36H, p6418 FsX482 and gN19A>C ) in the dual oxidase 2 (DUOX 2) gene responsible for congenital goiter and iodide organification defect. V.Varela, C.Rivolta, S.Esperante, L.Gru?eiro-Papendieck,A.Chiesa, H.Targovnik. Clinical Chemistry vol 52 2 1-10 2006 . 44. Pesquisa neonatal de Hipotiroidismo Cong?nito :supervisi?n del d?ficit de yodo en la Provicia de Misiones. Mendez V,Chiesa A, Prieto L, Bergada R,Chumen L,Gru?eiro-Papendieck L.Revista de la Sociedad de Endocrinolog?a y Metabolismo vol 44: 1 17-24. (2007) 45. Two compound heterozigous mutations (c.215delA/c.2422T>C and c.387delC/c.1159>A)in the thyroid peroxidase gene responsible for congenital goiter and iodide organfication defect C.M. Rivolta, CliM.Louis-Tisserand, V.Varela, L.Gru?eiro-Papendieck, A.Chiesa, Gonzalez-Sarmiento, H.M.Targovnik. Clinical Endocrinology(2007) 67,238-246 46. Recurrence of the p.R1511X compound heterozigous mutation in the thyroglobulin gene in unrelated families with congenital goiter and hypothyroidism :haplotype analysis using intragenic thyroglobulin polymorphisms. M.Caputo, C.M.Rivolta,V.Gutnisky, L.Gru?eiro-Papendieck, A.Chiesa, G.Medeiros Neto, R.Gonzalez Sarmiento,H.M.Targovnik Journal of Endocrinology (2007) 195.167-177. 47. Congenital hypothyroidism with goiter cause by new mutations in the thyroglobulingene.M.Caputo,C.M.Rivolta,S.Esperante,L.Gru?eiroPapendieck,A. Chiesa,Pellizas,R.GonzalezSarmientoandH.M.Targovnik.ClinicalEndocrinol.(2007)67,351-357. 48. El hijo de madre hipertiroidea. P.Papendieck, A.Chiesa, L.Gru?eiro-Papendieck Rev. del Hospital de Ni?os (2007),vol.49,n. 222, 63-68. 49. Neonatal Screening for Congenital Adrenal Hyperplasia: experience and results in Argentina. L. Gru?eiro Papendieck, A.Chiesa, V.Mendez, L. Prieto. J Pediatr Endocrinol 2008, 21, 73-78. 50. Hipotiroidismo cong?nito central por mutacion del gen TSH beta. Una patologia no detectada por la pesquisa neonatal. A Freire. A Chiesa, H Domene, P Scaglia, e vainstein, L Gru?eiro de Papendieck. Revista del Hospital de Ni?os 227 pag 79-83.Junio 2008 51. El crecimiento humano y su evaluacion. P Papendieck, A Chiesa. L Gru?eiro de papendieckRevista Salud cardiometabolica, endocrinologia y nutricion Bolivia a?o1 vol1 n2 pag14-19 2008 52. Hipertiroidismo en la infancia y adolescencia P Papendieck, A Chiesa. L Gru?eiro de papendieckRevista Salud cardiometabolica, endocrinologia y nutricion Bolivia a?o1 vol1 n2 pag25-28 2008 53. Hipotiroidismo en la infancia y adolescencia P Papendieck, A Chiesa. L Gru?eiro de Papendieck Revista Salud cardiometabolica, endocrinologia y nutricion Bolivia a?o1 vol1 n2 pag31-35 2008 54. Supervisi?n del d?ficit de iodo en Salta Capital Mendez V Chiesa A Prieto L, Bergada R, Gru?eiro Papendieck L. RAEM vol45 n5 206-213 2008 55. "Abnormal responses to TRH test in children born small for gestational age that failed to catch up" Hormone Research, Vol. 72, No. 3, pp 167 - 171 ,2009 Doi: 10.1159/000232492 56. Thyroid Disorders of Neonates Born to Mothers with Graves' Disease P Papendieck, A Chiesa, L Prieto and L Grufieiro-Papendieck Jf Pediatric Endocrinol Metab 22,547-553 (2009) 57. 17-alpha hydroxyprogesterone and cortisol serum levels in neonates and young children: influence of age, gestational age, gender and methodological procedures M G Ballerini, A Chiesa, P Scaglia, LGru?eiro-Papendieck, JJ Heinrich and M G Ropelato.J. Pediatr Endocrinol Metab23:1-2, 121-32 2010 ID:20432815 58. Molecular analysis of congenital goitre with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7 Machiavelli GA, Caputo M, Rivolta CM, Olcese MC, Gru?eiro-Papendieck L, Chiesa A, Gonz?lez-Sarmiento R, Targovnik HM..Clin Clin Endocrinol (Oxf). 2010 Jan;72(1):112-21. Epub 2009 19438905 59. Genotyping of resistance to thyroid hormone in South American population.Identification of seven novel missense mutations in the human thyroid hormone receptor b gene. CM Rivolta, MC Olcese , FS Belforte , A Chiesa , L Gruneiro-Papendieck S Iorcansky , V Herzovich , F Cassorla , A Gauna , R Gonzalez-Sarmiento, HM Targovnik Mol Cell Probes Volume:23 3-4, 148-53 :2009 60. EDITORIAL Propylthiouracil-Induced Hepatotoxicity and Death. Hopefully, Never More S Malozowski . A Chiesa. Journal of Clin Endocrinol and Metab. 2010 95: 3161-3163, doi: 10.1210/jc.2010-1141 61. Clinical, biochemical and molecular findings in Argentinean patients with goitrous congenital hypothyroidism.A Chiesa, C M. Rivolta, H M. Targovnik and L Gru?eiro-Papendieck . Endocrine, 38(3): 377-85 2010
My group began in Argentina with the neonatal screening program for CH and still works on it.