Base de dados : MEDLINE
Pesquisa : C05.116.099.343.347 [Categoria DeCS]
Referências encontradas : 3666 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 367 ir para página                         

  1 / 3666 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29246344
[Au] Autor:Kilberg MJ; Rasooly IR; LaFranchi SH; Bauer AJ; Hawkes CP
[Ad] Endereço:Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, PA.
[Ti] Título:Newborn Screening in the US May Miss Mild Persistent Hypothyroidism.
[So] Source:J Pediatr;192:204-208, 2018 Jan.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To determine if newborn screening (NBS) programs for congenital hypothyroidism in the US use thyroid-stimulating hormone (TSH) cutoffs that are age adjusted to account for the physiologic 4-fold reduction in TSH concentrations over the first few days of life. STUDY DESIGN: All NBS programs in the US were contacted and asked to provide information on their NBS protocols, TSH cutoffs, and whether these cutoffs were age adjusted. RESULTS: Of 51 NBS programs, 28 request a repeat specimen if the initial eluted serum TSH concentration is mildly increased (between the cutoff and a median upper limit of 50 mU/L), whereas 14 programs perform a routine second screen in all infants. Although these specimens are typically collected between 1 week and 1 month of life, 16 of the 28 programs with a discretionary second test and 8 of 14 programs with a routine second test do not have age-adjusted TSH cutoffs after the first 48 hours of life. CONCLUSIONS: There is variation in NBS practices for screening for congenital hypothyroidism across the US, and many programs do not adjust the TSH cutoff beyond the first 2 days of life. Samples are processed when received from older infants, often to retest borderline initial results. This approach will miss congenital hypothyroidism in infants with persistent mild TSH elevations. We recommend that all NBS programs provide age-adjusted TSH cutoffs, and suggest developing a standard approach to screening for congenital hypothyroidism in the US.
[Mh] Termos MeSH primário: Hipotireoidismo Congênito/diagnóstico
Fidelidade a Diretrizes/estatística & dados numéricos
Disparidades em Assistência à Saúde/estatística & dados numéricos
Triagem Neonatal/normas
Testes de Função Tireóidea/normas
Tireotropina/sangue
[Mh] Termos MeSH secundário: Fatores Etários
Algoritmos
Biomarcadores/sangue
Hipotireoidismo Congênito/sangue
Seres Humanos
Recém-Nascido
Triagem Neonatal/métodos
Guias de Prática Clínica como Assunto
Padrões de Referência
Testes de Função Tireóidea/métodos
Estados Unidos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 9002-71-5 (Thyrotropin)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:180225
[Lr] Data última revisão:
180225
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171217
[St] Status:MEDLINE


  2 / 3666 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29238947
[Au] Autor:Szczepanek-Parulska E; Hernik A; Ruchala M
[Ti] Título:Thyroid ectopy - diagnostic and therapeutic challenges before and in the era of TSH neonatal screening.
[Ti] Título:Ektopia tarczycy ­ wyzwania diagnostyczne i terapeutyczne przed wprowadzeniem przesiewowego badania TSH noworodków i po nim..
[So] Source:Endokrynol Pol;68(6):708-721, 2017.
[Is] ISSN:2299-8306
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:Despite TSH screening in newborns is currently conducted in most developed countries, patients with thyroid ectopy born before the procedure was introduced or those in whom the screening failed to establish diagnosis, might still appear. In the paper we revise the current state of knowledge regarding the clinical presentation, diagnosis and treatment of patients with thyroid ectopy. As an example, we report diagnostic and therapeutic difficulties in our three patients with thyroid ectopy remaining undiagnosed and untreated during early childhood. Introduction of neonatal screening for congenital hypothyroidism does not guarantee that all patients with thyroid ectopy will be correctly diagnosed and properly treated due to the possibility of falsely negative result of TSH screening or lack of compliance from parents. Visualization of an ectopic thyroid on ultrasound examination may be challenging for unexperienced sonographists; muscles in the thyroid bed may be misdiagnosed as heterogeneous and hypoechogenic thyroid gland with features suggesting autoimmune thyroid disease. Thyroid scintiscan is crucial for confirmation of the diagnosis of thyroid ectopy. In conclusion, hypothyroidism due to thyroid developmental anomaly should be taken into consideration in case of hypothyroidism and normal thyroid autoantibodies in a patient at any age.
[Mh] Termos MeSH primário: Hipotireoidismo Congênito/diagnóstico
Triagem Neonatal
Guias de Prática Clínica como Assunto
Disgenesia da Tireoide/diagnóstico
Tireotropina/sangue
[Mh] Termos MeSH secundário: Adulto
Hipotireoidismo Congênito/sangue
Hipotireoidismo Congênito/diagnóstico por imagem
Hipotireoidismo Congênito/tratamento farmacológico
Feminino
Seres Humanos
Recém-Nascido
Cintilografia
Disgenesia da Tireoide/sangue
Disgenesia da Tireoide/diagnóstico por imagem
Disgenesia da Tireoide/tratamento farmacológico
Glândula Tireoide/diagnóstico por imagem
Ultrassonografia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
9002-71-5 (Thyrotropin)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180130
[Lr] Data última revisão:
180130
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171215
[St] Status:MEDLINE
[do] DOI:10.5603/EP.a2017.0061


  3 / 3666 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28455095
[Au] Autor:Wang F; Liu C; Jia X; Liu X; Xu Y; Yan S; Jia X; Huang Z; Liu S; Gu M
[Ad] Endereço:Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China; Department of Endocrinology and Metabolism, The Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China.
[Ti] Título:Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
[So] Source:Clin Chim Acta;470:36-41, 2017 Jul.
[Is] ISSN:1873-3492
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The abnormal expression of certain transcription factors (NKX2.1, FOXE1, NKX2.5, and PAX8) and thyroid stimulating hormone receptor (TSHR) genes has been associated with athyreosis, which is a form of thyroid dysgenesis (TD). We aimed to identify candidate gene mutations in CH patients with athyreosis and to establish the genotype-phenotype correlations in a Chinese population. METHODS: The exons and flanking sequences of NKX2.1, FOXE1, NKX2.5, PAX8, and TSHR were screened by next-generation sequencing and further confirmed by direct Sanger sequencing. The mutation frequencies were calculated and compared against databases. The relationship between genotype and phenotype was also determined. RESULTS: Seven variants were detected in TSHR-p.P52T, p.G132R, p.M164K, p.R450H, p.C700E, p.A522V, and p.R528S. The p. G132R, p. M164K and p. R528S variants were first identified in public databases. Five variants (p.G44D, p.G360V, p.R401Q, p.L418I, and p.E453Q) were found in NKX2.1 and one variant (p.P243T) was detected in FOXE1. In addition, one variant (p.N291I) was found in NKX2.5 and two variants (p.A355V and c.-26G>A) were detected in PAX8. CONCLUSIONS: Our study indicated that TSHR mutations have phenotypic variability and has further expanded the mutation spectrum of TSHR. We also revealed that the rate of NKX2.1, FOXE1, NKX2.5, and PAX8 mutations were low in patients with CH and athyreosis, in contrast to the higher rate of TSHR mutations.
[Mh] Termos MeSH primário: Grupo com Ancestrais do Continente Asiático/genética
Hipotireoidismo Congênito/genética
Análise Mutacional de DNA
Sequenciamento de Nucleotídeos em Larga Escala
Receptores da Tireotropina/genética
Disgenesia da Tireoide/genética
Fatores de Transcrição/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Criança
Pré-Escolar
Feminino
Fatores de Transcrição Forkhead/genética
Genótipo
Proteína Homeobox Nkx-2.5/genética
Seres Humanos
Masculino
Fator de Transcrição PAX8/genética
Fenótipo
Glândula Tireoide/metabolismo
Fator Nuclear 1 de Tireoide/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (FOXE1 protein, human); 0 (Forkhead Transcription Factors); 0 (Homeobox Protein Nkx-2.5); 0 (NKX2-1 protein, human); 0 (NKX2-5 protein, human); 0 (PAX8 Transcription Factor); 0 (PAX8 protein, human); 0 (Receptors, Thyrotropin); 0 (Thyroid Nuclear Factor 1); 0 (Transcription Factors)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180108
[Lr] Data última revisão:
180108
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170430
[St] Status:MEDLINE


  4 / 3666 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28807719
[Au] Autor:Ghanbari M; Ghasemi A
[Ad] Endereço:Endocrine Physiology Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
[Ti] Título:Maternal hypothyroidism: An overview of current experimental models.
[So] Source:Life Sci;187:1-8, 2017 Oct 15.
[Is] ISSN:1879-0631
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Maternal hypothyroidism (MH) is the most common cause of transient congenital hypothyroidism. Different animal models are used for assessing developmental effects of MH in offspring. The severity and status of hypothyroidism in animal models must be a reflection of the actual conditions in humans. To obtain comparable results with different clinical conditions, which lead to MH in humans, several factors have been suggested for researchers to consider before designing the experimental models. Regarding development of fetal body systems during pregnancy, interference at different times provides different results and the appropriate time for induction of hypothyroidism should be selected based on accurate time of development of the system under assessment. Other factors that should be taken into consideration include, physiological and biochemical differences between humans and other species, thyroid hormone-independent effects of anti-thyroid drugs, circadian rhythms in TSH secretion, sex differences, physical and psychological stress. This review addresses essential guidelines for selecting and managing the optimal animal model for MH as well as discussing the pros and cons of currently used models.
[Mh] Termos MeSH primário: Hipotireoidismo Congênito
Modelos Animais de Doenças
Hipotireoidismo
Complicações na Gravidez
[Mh] Termos MeSH secundário: Animais
Antitireóideos/farmacologia
Feminino
Seres Humanos
Hipotireoidismo/sangue
Hipotireoidismo/induzido quimicamente
Hipotireoidismo/metabolismo
Gravidez
Complicações na Gravidez/sangue
Complicações na Gravidez/induzido quimicamente
Complicações na Gravidez/metabolismo
Caracteres Sexuais
Especificidade da Espécie
Hormônios Tireóideos/sangue
Hormônios Tireóideos/fisiologia
Tireotropina/sangue
Tireotropina/secreção
Fatores de Tempo
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antithyroid Agents); 0 (Thyroid Hormones); 9002-71-5 (Thyrotropin)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170921
[Lr] Data última revisão:
170921
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170816
[St] Status:MEDLINE


  5 / 3666 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
[PMID]:28697824
[Au] Autor:Yang JH; Zhang JH; Zhang YH; Xu XZ; Chen H; Li Y; Jiang Y; Wang Z; Zhu BS; Li L
[Ad] Endereço:Department of Pediatrics, First People's Hospital of Yunnan Province, Kunming 650032, China. erklili@sina.com.
[Ti] Título:[Analysis of treatment efficacy for congenital hypothyroidism in some regions of Yunnan Province, China].
[So] Source:Zhongguo Dang Dai Er Ke Za Zhi;19(7):741-747, 2017 Jul.
[Is] ISSN:1008-8830
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To observe the effects of initial doses and treatment timing of levothyroxine (L-T4) on the clinical efficacy in children with congenital hypothyroidism (CH). METHODS: This study included 98 children who had an abnormal level of thyroid stimulating hormone (TSH) in neonatal screening in four regions of Yunnan Province and who finally had a confirmed diagnosis of CH. They received treatment with L-T4 and were divided into standard dose group (10-15 µg/kg per day) and low dose group (<10 µg/kg per day) by the therapeutic dose of L-T4. Meanwhile, these patients were also classified into two treatment groups based on the starting time of L-T4 treatment, namely under 2 months old group and more than 2 months old group. The thyroid function and physical and neural development were examined before and after treatment. RESULTS: Compared with the low dose group, the standard dose group had a significantly lower TSH level and a significantly higher free thyroxine (FT4) level at 2 weeks after treatment (P<0.05). There were no significant differences in TSH and FT4 levels at other time points after treatment between the standard and low dose groups (P>0.05). The physical and neural development were not significantly different between the two dose groups before and at all time points after treatment (P>0.05). At all time points after treatment, the levels of TSH and FT4 and physical development were not significantly different between the different starting time groups (P>0.05). However, the Gesell score was significantly higher in the under 2 months old group than in the more than 2 months old group at all time points after treatment (P<0.05). CONCLUSIONS: The standard dose group has a better treatment outcome than the low dose group, whereas the symptoms of hyperthyroidism deserve close attention. The treatment timing is vital to the neurodevelopment of children with CH. Once diagnosed, the patients should receive treatments immediately.
[Mh] Termos MeSH primário: Hipotireoidismo Congênito/tratamento farmacológico
[Mh] Termos MeSH secundário: Desenvolvimento Infantil
Hipotireoidismo Congênito/fisiopatologia
Feminino
Seres Humanos
Recém-Nascido
Masculino
Sistema Nervoso/crescimento & desenvolvimento
Tireotropina/sangue
Tiroxina/sangue
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9002-71-5 (Thyrotropin); Q51BO43MG4 (Thyroxine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171026
[Lr] Data última revisão:
171026
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170713
[St] Status:MEDLINE


  6 / 3666 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28694389
[Au] Autor:Lain S; Trumpff C; Grosse SD; Olivieri A; Van Vliet G
[Ad] Endereço:Menzies Centre for Health PolicyUniversity of Sydney, Australia.
[Ti] Título:Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?
[So] Source:Eur J Endocrinol;177(5):D1-D12, 2017 Nov.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:When newborn screening (NBS) for congenital hypothyroidism (CH) using thyroid-stimulating hormone (TSH) as a primary screening test was introduced, typical TSH screening cutoffs were 20-50 U/L of whole blood. Over the years, lowering of TSH cutoffs has contributed to an increased prevalence of detected CH. However, a consensus on the benefit deriving from lowering TSH cutoffs at screening is lacking. The present paper outlines arguments both for and against the lowering of TSH cutoffs at NBS. It includes a review of recently published evidence from Australia, Belgium and Italy. A section focused on economic implications of lowering TSH cutoffs is also provided. One issue that bears further examination is the extent to which mild iodine deficiency at the population level might affect the association of neonatal TSH values with cognitive and developmental outcomes. A debate on TSH cutoffs provides the opportunity to reflect on how to make NBS for CH more effective and to guarantee optimum neurocognitive development and a good quality of life to babies with mild as well as with severe CH. All authors of this debate article agree on the need to establish optimal TSH cutoffs for screening programs in various settings and to ensure the benefits of screening and access to care for newborns worldwide.
[Mh] Termos MeSH primário: Hipotireoidismo Congênito/sangue
Hipotireoidismo Congênito/diagnóstico
Triagem Neonatal/normas
Guias de Prática Clínica como Assunto/normas
Tireotropina/sangue
[Mh] Termos MeSH secundário: Hipotireoidismo Congênito/epidemiologia
Europa (Continente)/epidemiologia
Seres Humanos
Recém-Nascido
Triagem Neonatal/métodos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
9002-71-5 (Thyrotropin)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171012
[Lr] Data última revisão:
171012
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170712
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-17-0107


  7 / 3666 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28658938
[Au] Autor:Tonyushkina KN; Krug S; Ortiz-Toro T; Mascari T; Karlstrom RO
[Ad] Endereço:Division of Pediatric Endocrinology, Baystate Children's Hospital, Baystate Health, Springfield, Massachusetts 01199.
[Ti] Título:Low Thyroid Hormone Levels Disrupt Thyrotrope Development.
[So] Source:Endocrinology;158(9):2774-2782, 2017 Sep 01.
[Is] ISSN:1945-7170
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Low thyroid hormone (TH) conditions caused by a variety of prenatal and perinatal problems have been shown to alter postnatal regulatory thyrotropin (TSH) responsiveness to TH in humans and rodents. The mechanisms underlying this pituitary TH resistance remain unknown. Here we use the evolutionarily conserved zebrafish model to examine the effects of low TH on thyrotrope development and function. Zebrafish were exposed to the goitrogen 6-propyl-2-thiouracil (PTU) to block TH synthesis, and this led to an approximately 50% increase in thyrotrope numbers and an 8- to 10-fold increase in tshb mRNA abundance in 2-week-old larvae and 1-month-old juveniles. Thyrotrope numbers returned to normal 3 weeks after cessation of PTU treatment, demonstrating that these effects were reversible and revealing substantial plasticity in pituitary-thyroid axis regulation. Using a T4 challenge assay, we found that development under low-TH conditions did not affect the ability of T4 to suppress tshb mRNA levels despite the thyrotrope hyperplasia that resulted from temporary low-TH conditions. Together, these studies show that low developmental TH levels can lead to changes in thyrotrope number and function, providing a possible cellular mechanism underlying elevated TSH levels seen in neonates with either permanent or transient congenital hypothyroidism.
[Mh] Termos MeSH primário: Hipófise/efeitos dos fármacos
Hipófise/embriologia
Hormônios Tireóideos/farmacologia
Tireotrofos/efeitos dos fármacos
[Mh] Termos MeSH secundário: Animais
Animais Geneticamente Modificados
Contagem de Células
Diferenciação Celular/efeitos dos fármacos
Hipotireoidismo Congênito/complicações
Hipotireoidismo Congênito/embriologia
Hipotireoidismo Congênito/genética
Hipotireoidismo Congênito/patologia
Embrião não Mamífero
Regulação da Expressão Gênica no Desenvolvimento/efeitos dos fármacos
Organogênese/efeitos dos fármacos
Hipófise/citologia
Hipófise/patologia
Propiltiouracila/farmacologia
Receptores dos Hormônios Tireóideos/genética
Receptores dos Hormônios Tireóideos/metabolismo
Tireotrofos/citologia
Tireotrofos/fisiologia
Tireotropina Subunidade beta/genética
Peixe-Zebra/embriologia
Peixe-Zebra/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, Thyroid Hormone); 0 (Thyroid Hormones); 0 (Thyrotropin, beta Subunit); 721M9407IY (Propylthiouracil)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171115
[Lr] Data última revisão:
171115
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170630
[St] Status:MEDLINE
[do] DOI:10.1210/en.2016-1935


  8 / 3666 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28633507
[Au] Autor:Aycan Z; Cangul H; Muzza M; Bas VN; Fugazzola L; Chatterjee VK; Persani L; Schoenmakers N
[Ad] Endereço:Division of Paediatric Endocrinology, Dr. Sami Ulus Woman Health and Children Research Hospital, 06080 Ankara, Turkey.
[Ti] Título:Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.
[So] Source:J Clin Endocrinol Metab;102(9):3085-3090, 2017 Sep 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the thyroid peroxidase-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in dyshormonogenetic congenital hypothyroidism (CH) that may be phenotypically heterogeneous, leading to the hypothesis that CH severity may be influenced by environmental factors (e.g., dietary iodine) and oligogenic modifiers (e.g., variants in the homologous reduced form of NAD phosphate-oxidase DUOX1). However, loss-of-function mutations in DUOX1 have not hitherto been described, and its role in thyroid biology remains undefined. Case Description: We previously described a Proband and her brother (P1, P2) with unusually severe CH associated with a DUOX2 homozygous nonsense mutation (p.R434*); P1, P2: thyrotropin >100 µU/mL [reference range (RR) 0.5 to 6.3]; and P1: free T4 (FT4) <0.09 ng/dL (RR 0.9 to 2.3). Subsequent studies have revealed a homozygous DUOX1 mutation (c.1823-1G>C) resulting in aberrant splicing and a protein truncation (p.Val607Aspfs*43), which segregates with CH in this kindred. Conclusion: This is a report of digenic mutations in DUOX1 and DUOX2 in association with CH, and we hypothesize that the inability of DUOX1 to compensate for DUOX2 deficiency in this kindred may underlie the severe CH phenotype. Our studies provide evidence for a digenic basis for CH and support the notion that oligogenicity as well as environmental modulators may underlie phenotypic variability in genetically ascertained CH.
[Mh] Termos MeSH primário: Hipotireoidismo Congênito/diagnóstico
Hipotireoidismo Congênito/genética
Predisposição Genética para Doença
NADPH Oxidases/genética
[Mh] Termos MeSH secundário: Códon sem Sentido
Estudos de Coortes
Oxidases Duais
Feminino
Variação Genética
Genótipo
Seres Humanos
Lactente
Recém-Nascido
Masculino
NADPH Oxidases/metabolismo
Linhagem
Fenótipo
Estudos Retrospectivos
Índice de Gravidade de Doença
Testes de Função Tireóidea
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); EC 1.11.1.- (Dual Oxidases); EC 1.6.3.- (NADPH Oxidases); EC 1.6.3.1 (DUOX1 protein, human); EC 1.6.3.1 (DUOX2 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170622
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2017-00529


  9 / 3666 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28600385
[Au] Autor:Mansour C; Ouarezki Y; Jones J; Fitch M; Smith S; Mason A; Donaldson M
[Ad] Endereço:Hôpital Universitaire d'Enfants Abderrahim Harouchi, Casablanca, Morocco.
[Ti] Título:Trends in Scottish newborn screening programme for congenital hypothyroidism 1980-2014: strategies for reducing age at notification after initial and repeat sampling.
[So] Source:Arch Dis Child;102(10):936-941, 2017 Oct.
[Is] ISSN:1468-2044
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To determine ages at first capillary sampling and notification and age at notification after second sampling in Scottish newborns referred with elevated thyroid-stimulating hormone (TSH). SUBJECTS AND METHODS: Referrals between 1980 and 2014 inclusive were grouped into seven 5-year blocks and analysed according to agreed standards. RESULTS: Of 2 116 132 newborn infants screened, 919 were referred with capillary TSH elevation ≥8 mU/L of whom 624 had definite (606) or probable (18) congenital hypothyroidism. Median age at first sampling fell from 7 to 5 days between 1980 and 2014 (standard 4-7 days), with 22, 8 and 3 infants sampled >7 days during 2000-2004, 2005-2009 and 2010-2014. Median age at notification was consistently ≤14 days, range falling during 2000-2004, 2005-2009 and 2010-2014 from 6 to 78, 7-52 and 7-32 days with 12 (14.6%), 6 (5.6%) and 5 (4.3%) infants notified >14 days. However 18/123 (14.6%) of infants undergoing second sampling from 2000 onwards breached the ≤26-day standard for notification. By 2010-2014, the 91 infants with confirmed congenital hypothyroidism had shown favourable median age at first sample (5 days) with start of treatment (10.5 days) approaching age at notification. CONCLUSION: Most standards for newborn thyroid screening are being met by the Scottish programme, but there is a need to reduce age range at notification, particularly following second sampling. Strategies to improve screening performance include carrying out initial capillary sampling as close to 96 hours as possible; introducing 6-day laboratory reporting and use of electronic transmission for communicating repeat requests.
[Mh] Termos MeSH primário: Hipotireoidismo Congênito/diagnóstico
Triagem Neonatal/tendências
[Mh] Termos MeSH secundário: Distribuição por Idade
Hipotireoidismo Congênito/epidemiologia
Seres Humanos
Recém-Nascido
Escócia
Manejo de Espécimes
Tireotropina/sangue
Tiroxina/sangue
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9002-71-5 (Thyrotropin); Q51BO43MG4 (Thyroxine)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170611
[St] Status:MEDLINE
[do] DOI:10.1136/archdischild-2016-312156


  10 / 3666 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28541007
[Au] Autor:Zheng X; Ma SG; Guo ML; Qiu YL; Yang LX
[Ad] Endereço:Department of Endocrinology and Metabolism, Puren Hospital Affiliated to Wuhan University of Science and Technology, Wuhan, P.R. China.
[Ti] Título:Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.
[So] Source:Yonsei Med J;58(4):888-890, 2017 Jul.
[Is] ISSN:1976-2437
[Cp] País de publicação:Korea (South)
[La] Idioma:eng
[Ab] Resumo:The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence of heterozygous mutations in the DUOX2 and DUOXA2 genes. The two sisters with GCH were diagnosed with CH at neonatal screening and were enrolled in this study. The DUOX2, DUOXA2, and thyroid peroxidase (TPO) genes were considered for genetic defects screening. Family members of the patients and normal controls were also enrolled and evaluated. The two girls harbored compound heterozygous mutations, including a new mutation of c.2654G>T (p.R885L) in the maternal DUOX2 allele and c.738C>G (p.Y246X) in the paternal DUOXA2 allele, that has been previously reported. The germline mutations from the families were consistent with an autosomal recessive inheritance pattern. No mutations in the TPO gene and the controls were observed.
[Mh] Termos MeSH primário: Hipotireoidismo Congênito/genética
Predisposição Genética para Doença
Proteínas de Membrana/genética
Mutação/genética
NADPH Oxidases/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Hipotireoidismo Congênito/sangue
Oxidases Duais
Éxons/genética
Família
Feminino
Heterozigoto
Seres Humanos
Recém-Nascido
Masculino
Linhagem
[Pt] Tipo de publicação:CASE REPORTS
[Nm] Nome de substância:
0 (DUOXA2 protein, human); 0 (Membrane Proteins); EC 1.11.1.- (Dual Oxidases); EC 1.6.3.- (NADPH Oxidases); EC 1.6.3.1 (DUOX2 protein, human)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170526
[St] Status:MEDLINE
[do] DOI:10.3349/ymj.2017.58.4.888



página 1 de 367 ir para página                         
   


Refinar a pesquisa
  Base de dados : MEDLINE Formulário avançado   

    Pesquisar no campo  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/OPAS/OMS - Centro Latino-Americano e do Caribe de Informação em Ciências da Saúde