ABSTRACT
ABSTRACT Objective: To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. Subjects and methods: Characterization of patients with congenital hypothyroidism into specific subtypes of thyroid dysgenesis with hormone levels (TT4 and TSH), thyroid ultrasound and scintigraphy. DNA was extracted from peripheral blood leukocytes and the genetic analysis was realized by investigating the presence of mutations in the transcription factor genes involved in thyroid development. Results: No mutations were detected in any of the candidate genes. In situ thyroid gland represented 71.1% of all cases of permanent primary congenital hypothyroidism, followed by hypoplasia (9.6%), ectopia (78%), hemiagenesis (6.0%) and agenesis (5.5%). The highest neonatal screening TSH levels were in the agenesis group (p < 0.001). Conclusions: Thyroid dysgenesis is possibly a polygenic disorder and epigenetic factors could to be implicated in these pathogeneses.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Receptors, Thyrotropin/genetics , Homeobox Protein Nkx-2.5/genetics , PAX8 Transcription Factor/genetics , Mutation/genetics , Brazil , DNA Mutational Analysis , Genetic Testing , Cohort Studies , Ultrasonography , Congenital Hypothyroidism/etiology , Congenital Hypothyroidism/genetics , Congenital Hypothyroidism/diagnostic imaging , Thyroid Dysgenesis/geneticsABSTRACT
Objective To search for genetic alteration in NKX2.5 gene in patients presenting both congenital heart disease (CHD) and TD. Subjects and methods Individual phenotypes were carefully analyzed in 86 children with thyroid dysgenesis (TD) using thyroid function tests, scintigraphy, ultrasound and echocardiography. DNA was extracted and NKX2.5 gene coding region was amplified by polymerase chain reaction (PCR) and sequenced. Results CHD were found in 8.1% of patients with TD. The mutation screening revealed two known polymorphisms in patients with isolated TD or TD associated with CHD. None of them are predicted to result in codon change in conserved domain. The c.63A>G polymorphism was detected in 54/86 patients (49 with isolated TD and 5 with TD combined with CHD). There was a significant association of c.63A>G polymorphism with hypoplasia (p < 0.036). The c.541G>A polymorphism was observed in only one patient with isolated thyroid hypoplasia. Conclusion NKX2.5 mutations were not found. The c.63A>G polymorphism might be associated with thyroid hypoplasia.
Subject(s)
Female , Humans , Infant, Newborn , Male , Homeodomain Proteins/genetics , Polymorphism, Genetic , Thyroid Dysgenesis/genetics , Thyroid Gland/abnormalities , Transcription Factors/genetics , Genetic Association Studies , Pedigree , Thyroid Function TestsABSTRACT
Trata-se de um estudo de abordagem quanti-qualitativa, sobre o planejamento e preparação do cuidado de enfermagem em Acidentes com Múltiplas Vítimas (AMV). O objeto de estudo desta dissertação é o cuidado de enfermagem na sala de emergência, diante de um fenômeno que promova um AMV. Foram sujeitos da pesquisa, profissionais de enfermagem de um hospital de esfera administrativa municipal, que forneceram os dados quantitativos através da resposta de uma entrevista semi-estruturada com perguntas fechadas. Realizado também a observação na prestação dos cuidados de enfermagem em momentos de AMV e registrado através de um diário de campo na sala vermelha de um hospital geral na cidade do Rio de Janeiro, assim, obtive os dados qualitativos desta pesquisa. Complementou-se a argumentação da pesquisa com a realização do cruzamento de dados da análise dos fenômenos de AMV, que aconteceram no estado do Rio de Janeiro, dentro do recorte temporal destinado a pesquisa, extraindo na mídia internet novos dados...
Subject(s)
Humans , Disaster Emergencies , Emergency Nursing , Nursing Care , Hospitals, MunicipalABSTRACT
OBJETIVO: Correlacionar o achado ultra-sonográfico isolado de cisto de cordão umbilical com anomalias fetais, como cromossomopatias e alterações estruturais. Segundo a literatura médica, as implicações clínicas do achado ultra-sonográfico de cisto de cordão nos segundo e terceiro trimestres de gestação estão bem estabelecidas, entretanto, quando no primeiro trimestre, o significado ainda permanece controverso. MATERIAIS E MÉTODOS: Foi realizado estudo retrospectivo de gestantes da população geral, consecutivas, com fetos únicos e vivos, que apresentavam apenas o achado de cisto de cordão umbilical, num período de dez anos (1996-2006). Em todos os casos foram realizados exames ultra-sonográficos para o rastreamento de anomalias fetais após o diagnóstico de cisto de cordão. Os recém-nascidos e o cordão umbilical foram examinados após o parto para se verificar a presença de anomalias. RESULTADOS: Foram estudados nove casos que apresentavam cisto de cordão umbilical como único achado, sem outros marcadores ultra-sonográficos de anomalias fetais. Detectaram-se dois casos no primeiro trimestre de gestação e sete nos segundo e terceiro trimestres. Dois casos foram submetidos a estudo citogenético fetal, por meio de amniocentese. Nenhum recém-nascido apresentou anomalias estruturais ou aneuploidia. CONCLUSÃO: O achado ultra-sonográfico isolado de cisto de cordão umbilical não significou aumento de risco para anomalias estruturais ou aneuploidias.
OBJECTIVE: To correlate the isolated sonographic finding of umbilical cord cyst with fetal anomalies such as chromosomopathies and structural changes. According to the medical literature, the clinical implications of the sonographic finding of umbilical cord cyst in the second and third trimesters of pregnancy are well established; however, the meaning of this finding in the first trimester still remains controversial. MATERIALS AND METHODS: A retrospective study was developed with consecutive, pregnant women with single living fetuses presenting with umbilical cord cyst as an isolated finding, over a 10-year period (1996-2006). Ultrasound studies were performed in all cases for screening of fetal anomalies after the diagnosis of umbilical cord cyst. Neonates and umbilical cords were evaluated after delivery for the presence of abnormalities. RESULTS: Nine cases presenting umbilical cord cyst as a sole finding with no other sonographic marker for fetal abnormality were evaluated. Two cases were detected in the first pregnancy trimester and seven cases in the second and third trimesters. Fetal cytogenetic study was done by means of amniocentesis in two cases. No newborn presented with structural anomalies or aneuploidy. CONCLUSION: Isolated sonographic finding of umbilical cord cyst did not imply increased risk for fetal structural anomalies or aneuploidies.