Výsledky vyhledávání - "Edson Cechinel"

Akademický článek

Beckwith-Wiedemann syndrome mimicking the classical form of congenital adrenal hyperplasia in newborn screening

Autor: Jéssica Mallmann Erbes Schaefer Martins, Barbara Leitao Braga, Klevia Nunes Feitosa Sampaio, Tamires de Souza Garcia, Juliana Van de Sande Lee, Edson Cechinel, Genoir Simoni, Marilza Leal Nascimento, Paulo Cesar Alves da Silva, Maria C. V. Fragoso, Tania A. A. S. Bachega, Mirian Y. Nishi, Berenice B. Mendonca

Publikováno v: Archives of Endocrinology and Metabolism, Vol 68 (2024)

SUMMARY Beckwith-Wiedemann syndrome (BWS) is a common genetic congenital disease characterized by somatic overgrowth and its broad clinical spectrum includes pre- and post-natal macrosomia, macroglossia, visceromegaly, increased risk of neonatal hypo

Externí odkaz: https://doaj.org/article/53542a5606084650927adb2dcee6a9e7

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Akademický článek

Impact of the reduction in TSH cutoff level to 6 mIU/L in neonatal screening for congenital hypothyroidism in Santa Catarina: final results

Autor: Marilza Leal Nascimento, Andre Leal Nascimento, Patricia Dornbusch, Masanao Ohira, Genoir Simoni, Edson Cechinel, Rose Marie Mueller Linhares, Juliana van De Sande Lee, Paulo Cesar Alves Silva

Publikováno v: Archives of Endocrinology and Metabolism, Vol 64, Iss 6, Pp 816-823 (2020)

ABSTRACT Oubjective: To assess the implications of changing the cutoff level of TSH from 10 to 6 mIU/L. Subjects and methods: The study population was constituted by 74.123 children screened for congenital hypothyroidism by the National Screening Pro

Externí odkaz: https://doaj.org/article/9f99c72b79854a979a5a7c844b47793d

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MON-LB036 Uncommon Findings in Beckwith-Wiedemann Syndrome

Autor: Edson Cechinel, Jéssica M E S Martins, Genoir Simoni, Paulo Cesar Alves da Silva, Juliana S Lee, Tamires S Garcia, Marilza Leal Nascimento

Publikováno v: Journal of the Endocrine Society

Introduction: Beckwith-Wiedemann syndrome (BWS) is characterized by variable phenotypes that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, hemihypertrophy and predisposition to embryonal tumours. Some features

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39c70371ba4519d01e9b6227bae5a5d0
https://doi.org/10.1210/jendso/bvaa046.2063

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Programa de Triagem Neonatal para hipotireoidismo congênito de Santa Catarina, Brasil: avaliação etiológica no primeiro atendimento

Autor: Masanao Ohira, Rose Marie Muller Linhares, Paulo Cesar Alves da Silva, Genoir Simoni, Edson Cechinel, Fernanda Hostim Rabello, Marilza Leal Nascimento

Publikováno v: Arquivos Brasileiros de Endocrinologia & Metabologia v.56 n.9 2012
Arquivos Brasileiros de Endocrinologia & Metabologia
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
Arquivos Brasileiros de Endocrinologia & Metabologia, Volume: 56, Issue: 9, Pages: 627-632, Published: DEC 2012

OBJETIVO: Avaliar a etiologia, no primeiro atendimento, dos casos de hipotireoidismo congênito primário (HCP) identificados pelo Programa de Triagem Neonatal de Santa Catarina entre julho de 2007 e junho de 2009. SUJEITOS E MÉTODOS: Estudo prospec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28ca26a7848ec9deb9f5750aea0bea0d
https://doi.org/10.1590/s0004-27302012000900005

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Ten-year evaluation of a Neonatal Screening Program for congenital adrenal hyperplasia

Autor: Marilza Leal Nascimento, Masanao Ohira, Edson Cechinel, Genoir Simoni, Juliana van de Sande Lee, Tatiane de Campos, Anísia Nhelety Baptista Cristiano, Paulo Cesar Alves da Silva, Rose Marie Muller Linhares

Publikováno v: Arquivos brasileiros de endocrinologia e metabologia. 58(7)

Objective Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d95efb0dd48ed4ebe0cfe84bb2f8ee54
https://pubmed.ncbi.nlm.nih.gov/25372587

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[Newborn Screening Program for congenital hypothyroidism of the State of Santa Catarina, Brazil: etiological investigation in the first visit]

Autor: Marilza Leal, Nascimento, Fernanda Hostim, Rabello, Masanao, Ohira, Genoir, Simoni, Edson, Cechinel, Rose Marie Muller, Linhares, Paulo César Alves da, Silva

Publikováno v: Arquivos brasileiros de endocrinologia e metabologia. 56(9)

To evaluate the etiology of primary congenital hypothyroidism (PCH) identified in the Newborn Screening Program from the state of Santa Catarina, Brazil, from July 2007 to June 2009 in the first visit.A prospective study was performed in 45 patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::84f04ef26ba35bc3f4944b39908a3352
https://pubmed.ncbi.nlm.nih.gov/23329185

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