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[PMID]:29328563
[Au] Autor:Dragovic T; Duran Z; Jelic S; Marinkovic D; Kikovic S; Kuzmic-Jankovic S; Hajdukovic Z
[Ti] Título:Coexisting diseases modifying each other's presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism.
[So] Source:Vojnosanit Pregl;73(10):961-6, 2016 Oct.
[Is] ISSN:0042-8450
[Cp] País de publicação:Serbia
[La] Idioma:eng
[Ab] Resumo:Introduction: Turner syndrome presents with one of the most frequent chromosomal aberrations in female, typically presented with growth retardation, ovarian insufficiency, facial dysmorphism, and numerous other somatic stigmata. Gigantism is an extremely rare condition resulting from an excessive growth hormone (GH) secretion that occurs during childhood before the fusion of epiphyseal growth plates. The major clinical feature of gigantism is growth acceleration, although these patients also suffer from hypogonadism and soft tissue hypertrophy. Case report: We presented a girl with mosaic Turner syndrome, delayed puberty and normal linear growth for the sex and age, due to the simultaneous GH hypersecretion by pituitary tumor. In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing. Due to excessive pituitary GH secretion during the period while the epiphyseal growth plates of the long bones are still open, characteristic stagnation in longitudinal growth has not been demonstrated. The patient presented with delayed puberty and primary amenorrhea along with a sudden appearance of clinical signs of hypersomatotropinism, which were the reasons for seeking medical help at the age of 16. Conclusion: Physical examination of children presenting with delayed puberty but without growth arrest must include an overall hormonal and genetic testing even in the cases when typical clinical presentations of genetic disorder are absent. To the best of our knowledge, this is the first reported case of simultaneous presence of Turner syndrome and gigantism in the literature.
[Mh] Termos MeSH primário: Adenoma/complicações
Desenvolvimento do Adolescente
Estatura
Gigantismo/etiologia
Adenoma Hipofisário Secretor de Hormônio do Crescimento/complicações
Síndrome de Turner/complicações
[Mh] Termos MeSH secundário: Adenoma/sangue
Adenoma/fisiopatologia
Adenoma/cirurgia
Adolescente
Amenorreia/etiologia
Amenorreia/fisiopatologia
Biomarcadores/sangue
Feminino
Gigantismo/sangue
Gigantismo/fisiopatologia
Adenoma Hipofisário Secretor de Hormônio do Crescimento/sangue
Adenoma Hipofisário Secretor de Hormônio do Crescimento/fisiopatologia
Adenoma Hipofisário Secretor de Hormônio do Crescimento/cirurgia
Terapia de Reposição Hormonal
Hormônio do Crescimento Humano/sangue
Seres Humanos
Fator de Crescimento Insulin-Like I/metabolismo
Imagem por Ressonância Magnética
Mosaicismo
Puberdade Tardia/etiologia
Puberdade Tardia/fisiopatologia
Resultado do Tratamento
Síndrome de Turner/tratamento farmacológico
Síndrome de Turner/genética
Síndrome de Turner/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (IGF1 protein, human); 12629-01-5 (Human Growth Hormone); 67763-96-6 (Insulin-Like Growth Factor I)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180213
[Lr] Data última revisão:
180213
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180113
[St] Status:MEDLINE
[do] DOI:10.2298/VSP150620014D


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[PMID]:28938002
[Au] Autor:Ferrón HG
[Ad] Endereço:Institut Cavanilles de Biodiversitat I Biologia Evolutiva, University of Valencia, Burjassot, Spain.
[Ti] Título:Regional endothermy as a trigger for gigantism in some extinct macropredatory sharks.
[So] Source:PLoS One;12(9):e0185185, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Otodontids include some of the largest macropredatory sharks that ever lived, the most extreme case being Otodus (Megaselachus) megalodon. The reasons underlying their gigantism, distribution patterns and extinction have been classically linked with climatic factors and the evolution, radiation and migrations of cetaceans during the Paleogene. However, most of these previous proposals are based on the idea of otodontids as ectothermic sharks regardless of the ecological, energetic and body size constraints that this implies. Interestingly, a few recent studies have suggested the possible existence of endothermy in these sharks thus opening the door to a series of new interpretations. Accordingly, this work proposes that regional endothermy was present in otodontids and some closely related taxa (cretoxyrhinids), playing an important role in the evolution of gigantism and in allowing an active mode of live. The existence of regional endothermy in these groups is supported here by three different approaches including isotopic-based approximations, swimming speed inferences and the application of a novel methodology for assessing energetic budget and cost of swimming in extinct taxa. In addition, this finding has wider implications. It calls into question some previous paleotemperature estimates based partially on these taxa, suggests that the existing hypothesis about the evolution of regional endothermy in fishes requires modification, and provides key evidence for understanding the evolution of gigantism in active macropredators.
[Mh] Termos MeSH primário: Tamanho Corporal/fisiologia
Tubarões/anatomia & histologia
Tubarões/fisiologia
[Mh] Termos MeSH secundário: Nadadeiras de Animais/anatomia & histologia
Animais
Evolução Biológica
Extinção Biológica
Fósseis
Gigantismo
Modelos Biológicos
Consumo de Oxigênio
Isótopos de Oxigênio/análise
Natação
Temperatura Ambiente
Dente/anatomia & histologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Oxygen Isotopes)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171017
[Lr] Data última revisão:
171017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170923
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0185185


  3 / 1109 MEDLINE  
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[PMID]:28634279
[Au] Autor:Salvatori R; Radian S; Diekmann Y; Iacovazzo D; David A; Gabrovska P; Grassi G; Bussell AM; Stals K; Weber A; Quinton R; Crowne EC; Corazzini V; Metherell L; Kearney T; Du Plessis D; Sinha AK; Baborie A; Lecoq AL; Chanson P; Ansorge O; Ellard S; Trainer PJ; Balding D; Thomas MG; Korbonits M
[Ad] Endereço:Johns Hopkins University School of MedicineBaltimore, Maryland, USA.
[Ti] Título:In-frame seven amino-acid duplication in arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism.
[So] Source:Eur J Endocrinol;177(3):257-266, 2017 Sep.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Mutations in the aryl hydrocarbon receptor-interacting protein ( ) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor or result from recurrent mutation events. DESIGN AND METHODS: Observational, inferential and experimental study, including: mutation testing; reconstruction of 14 -region (8.3 Mbp) haplotypes; coalescent-based approximate Bayesian estimation of the time to most recent common ancestor (tMRCA) of the derived allele; forward population simulations to estimate current number of allele carriers; proposal of mutation mechanism; protein structure predictions; co-immunoprecipitation and cycloheximide chase experiments. RESULTS: Nine European-origin, unrelated c.805_825dup-positive pedigrees (four familial, five sporadic from the UK, USA and France) included 16 affected (nine gigantism/four acromegaly/two non-functioning pituitary adenoma patients and one prospectively diagnosed acromegaly patient) and nine unaffected carriers. All pedigrees shared a 2.79 Mbp haploblock around with additional haploblocks privately shared between subsets of the pedigrees, indicating the existence of an evolutionarily recent common ancestor, the 'English founder', with an estimated median tMRCA of 47 generations (corresponding to 1175 years) with a confidence interval (9-113 generations, equivalent to 225-2825 years). The mutation occurred in a small tandem repeat region predisposed to slipped strand mispairing. The resulting seven amino-acid duplication disrupts interaction with HSP90 and leads to a marked reduction in protein stability. CONCLUSIONS: The c.805_825dup allele, originating from a common ancestor, associates with a severe clinical phenotype and a high frequency of gigantism. The mutation is likely to be the result of slipped strand mispairing and affects protein-protein interactions and AIP protein stability.
[Mh] Termos MeSH primário: Alelos
Gigantismo/diagnóstico
Gigantismo/genética
Peptídeos e Proteínas de Sinalização Intracelular/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Sequência de Aminoácidos
Criança
Feminino
França
Células HEK293
Seres Humanos
Peptídeos e Proteínas de Sinalização Intracelular/química
Masculino
Linhagem
Mapeamento de Interação de Proteínas/métodos
Estabilidade Proteica
Estrutura Secundária de Proteína
Reino Unido
Estados Unidos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Nome de substância:
0 (Intracellular Signaling Peptides and Proteins); 0 (aryl hydrocarbon receptor-interacting protein)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170831
[Lr] Data última revisão:
170831
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170622
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-17-0293


  4 / 1109 MEDLINE  
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[PMID]:28492721
[Au] Autor:de Fátima Borges M; Lara BHJ; Tomé JM; de Araújo LP; Bugiga FCL; Sousa JC; Soares JMF; Dezena RA; Ferreira BP
[Ad] Endereço:Divisão de Endocrinologia e Metabolismo, Universidade Federal do Triângulo Mineiro, Uberaba, MG, BR.
[Ti] Título:Treatment of acromegaly patients at the Federal University of Triângulo Mineiro (UFTM): Experience Report.
[So] Source:Clinics (Sao Paulo);72(4):218-223, 2017 Apr.
[Is] ISSN:1980-5322
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE:: To evaluate the effectiveness of the treatment of acromegaly patients at the Federal University of Triangulo Mineiro. METHODS:: Cross-sectional and retrospective study of thirty cases treated over a period of two decades. RESULTS:: 17 men (56.7%) aged 14-67 years and 13 women aged 14-86 years were analyzed. Twenty-one patients underwent transphenoidal surgery, whichwas associated with somatostatin receptor ligands in 11 patients (39.3%), somatostatin receptor ligands + radiotherapyin 5 patients (17.8%), radiotherapy in 3 patients (10.7%), and radiotherapy + somatostatin receptorligands + cabergoline in 1 patient (3.6%). Additionally, 2 patients underwent radiotherapy and surgeryalone. Six patients received somatostatin receptor ligands before surgery, and 2 were not treated due to refusal and death. Nine patients have died, and 20 are being followed; 13 (65%) have growth hormonelevels o1 ng/mL, and 11 have normal insulin-like growth factor 1 levels. CONCLUSION:: The current treatment options enable patients seen in regional reference centers to achieve strict control parameters, which allows them to be treated close to their homes.
[Mh] Termos MeSH primário: Acromegalia/terapia
Adenoma/cirurgia
Adenoma Hipofisário Secretor de Hormônio do Crescimento/cirurgia
Receptores de Somatostatina/metabolismo
[Mh] Termos MeSH secundário: Acromegalia/sangue
Adenoma/metabolismo
Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Glicemia/análise
Brasil
Terapia Combinada
Estudos Transversais
Feminino
Gigantismo/sangue
Gigantismo/terapia
Hormônio do Crescimento/sangue
Seres Humanos
Fator de Crescimento Insulin-Like I/análise
Ligantes
Masculino
Meia-Idade
Estudos Retrospectivos
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Blood Glucose); 0 (Ligands); 0 (Receptors, Somatostatin); 67763-96-6 (Insulin-Like Growth Factor I); 9002-72-6 (Growth Hormone)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170830
[Lr] Data última revisão:
170830
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170512
[St] Status:MEDLINE


  5 / 1109 MEDLINE  
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[PMID]:28371070
[Au] Autor:Schmidt J; Hollstein R; Kaiser FJ; Gillessen-Kaesbach G
[Ad] Endereço:Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany.
[Ti] Título:Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome.
[So] Source:Am J Med Genet A;173(5):1400-1405, 2017 May.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Simpson-Golabi-Behmel syndrome (SGBS) is characterized by multiple congenital abnormalities, pre/postnatal overgrowth, distinctive craniofacial features intellectual disability (ID) of variable degree, and an increased risk for embryonal tumors. SGBS is X-linked recessive and caused by deletions, duplications, and point mutations in GPC3, encoding a membrane associated cell surface heparan sulfate proteoglycan named glypican 3. GPC3 plays essential roles in the regulation of cell growth signaling and cell division. Here, we report on a family with three affected cousins who show variable clinical signs of SGBS and ID. Initial microarray-CGH revealed a deletion of approximately 30-50 kb that includes at least one exon of GPC3. By subsequent Sanger sequencing of genomic DNA we could map the chromosomal break points to define a deletion size of 43,617 bp including exons 5 and 6 of the GPC3 gene. RT-PCR analysis on RNA derived from whole blood could further confirm the deletion of both exons on transcript level. This loss of two exons results in a frameshift and a premature stop of translation. Based on our results we have established a breakpoint spanning PCR that could identify the mutation in the mothers and grandmother of the patients. Thus, we provided a molecular test that allows accurate genetic counselling and prenatal diagnosis for this family.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Arritmias Cardíacas/genética
Doenças Genéticas Ligadas ao Cromossomo X/genética
Gigantismo/genética
Glipicanas/genética
Cardiopatias Congênitas/genética
Deficiência Intelectual/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/fisiopatologia
Arritmias Cardíacas/fisiopatologia
Criança
Pré-Escolar
Quebra Cromossômica
Éxons/genética
Feminino
Mutação da Fase de Leitura
Genes Ligados ao Cromossomo X
Doenças Genéticas Ligadas ao Cromossomo X/fisiopatologia
Gigantismo/fisiopatologia
Cardiopatias Congênitas/fisiopatologia
Seres Humanos
Lactente
Deficiência Intelectual/fisiopatologia
Masculino
Linhagem
Fenótipo
Deleção de Sequência
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GPC3 protein, human); 0 (Glypicans)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170508
[Lr] Data última revisão:
170508
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170404
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38188


  6 / 1109 MEDLINE  
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[PMID]:27812777
[Au] Autor:Vilar L; Vilar CF; Lyra R; Lyra R; Naves LA
[Ad] Endereço:Division of Endocrinology, Hospital das Clínicas, Federal University of Pernambuco, Rua Heitor Maia Filho, 100/502, Madalena, Recife, CEP 50.720-525, Brazil. lvilarf@gmail.com.
[Ti] Título:Acromegaly: clinical features at diagnosis.
[So] Source:Pituitary;20(1):22-32, 2017 Feb.
[Is] ISSN:1573-7403
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Acromegaly is a rare and underdiagnosed disorder caused, in more than 95% of cases, by a growth hormone (GH)-secreting pituitary adenoma. The GH hypersecretion leads to overproduction of insulin-like growth factor 1 (IGF-1) which results in a multisystem disease characterized by somatic overgrowth, multiple comorbidities, physical disfigurement, and increased mortality. OBJECTIVE: This article aims to review the clinical features of acromegaly at diagnosis. DISCUSSION/CONCLUSION: Acromegaly affects both males and females equally and the average age at diagnosis ranges from 40 to 50 years (up to 5% of cases < the age 20). Due to insidious onset and slow progression, acromegaly is often diagnosed five to more than ten years after its onset. The typical coarsening of facial features include furrowing of fronthead, pronounced brow protrusion, enlargement of the nose and the ears, thickening of the lips, skin wrinkles and nasolabial folds, as well as mandibular prognathism that leads to dental malocclusion and increased interdental spacing. Excessive growth of hands and feet (predominantly due to soft tissue swelling) is present in the vast majority of acromegalic patients. Gigantism accounts for up to 5% of cases and occurs when the excess of GH becomes manifest in the young, before the epiphyseal fusion. The disease also has rheumatologic, cardiovascular, respiratory, neoplastic, neurological, and metabolic manifestations which negatively impact its prognosis and patients quality of life. Less than 15% of acromegalic patients actively seek medical attention for change in appearance or enlargement of the extremities. The presentation of acromegaly is more often related to its systemic comorbidities or to local tumor effects.
[Mh] Termos MeSH primário: Acromegalia/diagnóstico
[Mh] Termos MeSH secundário: Acromegalia/patologia
Feminino
Gigantismo/diagnóstico
Gigantismo/patologia
Seres Humanos
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161105
[St] Status:MEDLINE
[do] DOI:10.1007/s11102-016-0772-8


  7 / 1109 MEDLINE  
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[PMID]:27739211
[Au] Autor:Vaisfeld A; Pomponi MG; Pietrobono R; Tabolacci E; Neri G
[Ad] Endereço:Istituto di Medicina Genomica, Università Cattolica del S. Cuore, Rome, Italy.
[Ti] Título:Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.
[So] Source:Am J Med Genet A;173(1):285-288, 2017 Jan.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Simpson-Golabi-Behmel syndrome is an X-linked recessive overgrowth condition caused by alterations in GPC3 gene, encoding for the cell surface receptor glypican 3, whose clinical manifestations in affected males are well known. Conversely, there is little information regarding affected females, with very few reported cases, and a clinical definition of this phenotype is still lacking. In the present report we describe an additional case, the first to receive a primary molecular diagnosis based on strong clinical suspicion. Possible explanations for full clinical expression of X-linked recessive conditions in females include several mechanisms, such as skewed X inactivation or homozygosity/compound heterozygosity of the causal mutation. Both of these were excluded in our case. Given that the possibility of full expression of SGBS in females is now firmly established, we recommend that GPC3 analysis be performed in all suggestive female cases. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Arritmias Cardíacas/diagnóstico
Arritmias Cardíacas/genética
Estudos de Associação Genética
Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico
Doenças Genéticas Ligadas ao Cromossomo X/genética
Gigantismo/diagnóstico
Gigantismo/genética
Cardiopatias Congênitas/diagnóstico
Cardiopatias Congênitas/genética
Deficiência Intelectual/diagnóstico
Deficiência Intelectual/genética
[Mh] Termos MeSH secundário: Hibridização Genômica Comparativa
Facies
Feminino
Glipicanas/genética
Seres Humanos
Lactente
Repetições de Microssatélites
Fenótipo
Análise de Sequência de DNA
Deleção de Sequência
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (GPC3 protein, human); 0 (Glypicans)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161015
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38003


  8 / 1109 MEDLINE  
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[PMID]:27838609
[Au] Autor:Cansu GB; Taskiran B; Trivellin G; Faucz FR; Stratakis CA
[Ad] Endereço:Division of Endocrinology and Metabolism, Yunus Emre State Hospital, 26190, Eskisehir, Turkey.
[Ti] Título:A novel truncating AIP mutation, p.W279*, in a familial isolated pituitary adenoma (FIPA) kindred.
[So] Source:Hormones (Athens);15(3):441-444, 2016 07.
[Is] ISSN:1109-3099
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:Familial isolated pituitary adenomas (FIPA) constitute 2-3% of pituitary tumours. AIP is the most commonly mutated gene in FIPA. We herein report a novel germline mutation of the AIP gene in a family with FIPA. We present two patients, a father and his 12-year-old daughter, diagnosed clinically and using laboratory measures with acromegaly-gigantism. Both underwent transsphenoidal hypophyseal surgery for macroadenomas. We initially detected a novel heterozygous germline AIP mutation, c.836G>A (p.W279*), in the father's DNA. We then found the same mutation in his affected daughter. Pituitary adenomas associated with AIP mutations mostly present as FIPA (68%) at an early age (78% occur at <30 years old). They are often growth hormone (GH) - or prolactin - secreting macroadenomas (88%) that have already extended beyond the sella at the time of diagnosis. Acromegalic cases are resistant to somatostatin analogues and multimodal management is frequently essential to control the disease. Our patients had normalized GH/IGF-1 values soon after surgery, although enough time may not have elapsed to reach final cure. While penetrance of the disease can be as low as 10% in FIPA, especially children and young patients with somatotropinoma and prolactinoma should be surveyed for inactivating mutations or deletions in AIP. Determining the causative mutations may be of assistance in early diagnosis, treatment success, and genetic counseling.
[Mh] Termos MeSH primário: Adenoma/genética
Mutação em Linhagem Germinativa
Adenoma Hipofisário Secretor de Hormônio do Crescimento/genética
Peptídeos e Proteínas de Sinalização Intracelular/genética
[Mh] Termos MeSH secundário: Acromegalia/diagnóstico
Acromegalia/genética
Adenoma/sangue
Adenoma/diagnóstico
Adenoma/cirurgia
Adulto
Biomarcadores/sangue
Criança
Análise Mutacional de DNA
Feminino
Predisposição Genética para Doença
Gigantismo/diagnóstico
Gigantismo/genética
Adenoma Hipofisário Secretor de Hormônio do Crescimento/sangue
Adenoma Hipofisário Secretor de Hormônio do Crescimento/diagnóstico
Adenoma Hipofisário Secretor de Hormônio do Crescimento/cirurgia
Heterozigoto
Hormônio do Crescimento Humano/sangue
Seres Humanos
Fator de Crescimento Insulin-Like I/metabolismo
Masculino
Fenótipo
Valor Preditivo dos Testes
Fatores de Risco
Resultado do Tratamento
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 0 (IGF1 protein, human); 0 (Intracellular Signaling Peptides and Proteins); 0 (aryl hydrocarbon receptor-interacting protein); 12629-01-5 (Human Growth Hormone); 67763-96-6 (Insulin-Like Growth Factor I)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170417
[Lr] Data última revisão:
170417
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161114
[St] Status:MEDLINE
[do] DOI:10.14310/horm.2002.1686


  9 / 1109 MEDLINE  
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[PMID]:27735943
[Au] Autor:Zoller V; Funcke JB; Keuper M; Abd El Hay M; Debatin KM; Wabitsch M; Fischer-Posovszky P
[Ad] Endereço:Division of Pediatric Endocrinology and Diabetes, Department of Pediatric and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
[Ti] Título:TRAIL (TNF-related apoptosis-inducing ligand) inhibits human adipocyte differentiation via caspase-mediated downregulation of adipogenic transcription factors.
[So] Source:Cell Death Dis;7(10):e2412, 2016 Oct 13.
[Is] ISSN:2041-4889
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Tumor necrosis factor-α (TNFα) and other ligands of the TNF superfamily are potent regulators of adipose tissue metabolism and play a crucial role in the obesity-induced inflammation of adipose tissue. Adipose tissue expression levels of TRAIL (TNF-related apoptosis-inducing ligand) and its receptor were shown to be upregulated by overfeeding and decreased by fasting in mice. In the present study we aimed to elucidate the impact of TRAIL on adipogenesis. To this end, human Simpson-Golabi-Behmel syndrome (SGBS) preadipocytes as well as stromal-vascular cells isolated from human white adipose tissue were used as model systems. Human recombinant TRAIL inhibited adipogenic differentiation in a dose-dependent manner. It activated the cleavage of caspase-8 and -3, which in turn resulted in a downregulation of the key adipogenic transcription factors C/EBPα, C/EBPδ, and PPARγ. The effect was completely blocked by pharmacological or genetic inhibition of caspases. Taken together we discovered a so far unrecognized function of TRAIL in the regulation of adipogenesis. Targeting the TRAIL/TRAIL receptor system might provide a novel strategy to interfere with adipose tissue homeostasis.
[Mh] Termos MeSH primário: Adipócitos/citologia
Adipócitos/enzimologia
Adipogenia/efeitos dos fármacos
Caspases/metabolismo
Diferenciação Celular/efeitos dos fármacos
Regulação para Baixo/efeitos dos fármacos
Ligante Indutor de Apoptose Relacionado a TNF/farmacologia
Fatores de Transcrição/metabolismo
[Mh] Termos MeSH secundário: Adipócitos/efeitos dos fármacos
Adulto
Arritmias Cardíacas/patologia
Ativação Enzimática/efeitos dos fármacos
MAP Quinases Reguladas por Sinal Extracelular/metabolismo
Feminino
Doenças Genéticas Ligadas ao Cromossomo X/patologia
Gigantismo/patologia
Cardiopatias Congênitas/patologia
Seres Humanos
Deficiência Intelectual/patologia
Receptores do Ligante Indutor de Apoptose Relacionado a TNF/metabolismo
Transdução de Sinais/efeitos dos fármacos
Células Estromais/efeitos dos fármacos
Células Estromais/metabolismo
Células Estromais/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Receptors, TNF-Related Apoptosis-Inducing Ligand); 0 (TNF-Related Apoptosis-Inducing Ligand); 0 (Transcription Factors); EC 2.7.11.24 (Extracellular Signal-Regulated MAP Kinases); EC 3.4.22.- (Caspases)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170731
[Lr] Data última revisão:
170731
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161014
[St] Status:MEDLINE
[do] DOI:10.1038/cddis.2016.286


  10 / 1109 MEDLINE  
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Fotocópia
[PMID]:27717969
[Au] Autor:Tsai CH; Kohno N
[Ad] Endereço:Department of Geology and Paleontology, National Museum of Nature and Science, Tsukuba, Japan. cheng-hsiu.tsai@otago.ac.nz.
[Ti] Título:Multiple origins of gigantism in stem baleen whales.
[So] Source:Naturwissenschaften;103(11-12):89, 2016 Dec.
[Is] ISSN:1432-1904
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Living baleen whales (Mysticeti) include the world's largest animals to have ever lived-blue whales (Balaenoptera musculus) can reach more than 30 m. However, the gigantism in baleen whales remains little explored. Here, we compiled all published stem mysticetes from the Eocene and Oligocene and then mapped the estimated body size onto different phylogenies that suggest distinct evolutionary histories of baleen whales. By assembling all known stem baleen whales, we present three novel findings in early mysticete evolution. Results show that, regardless of different phylogenetic scenarios, large body size (more than 5-m long) evolved multiple times independently in their early evolutionary history. For example, the earliest known aetiocetid (Fucaia buelli, 33-31 Ma) was small in size, about 2 m, and a later aetiocetid (Morawanocetus-like animal, 26-23 Ma) can reach 8-m long-almost four times the size of Fucaia buelli-suggesting an independent gigantism in the aetiocetid lineage. In addition, our reconstruction of ancestral state demonstrates that the baleen whales originated from small body size (less than 5 m) rather than large body size as previously acknowledged. Moreover, reconstructing the evolution of body size in stem baleen whales suggests that the initial pulse of mysticete gigantism started at least back to the Paleogene and in turn should help to understand the origin, pattern, and process of the extreme gigantism in the crown baleen whales. This study illustrates that Cope's rule is insufficient to explain the evolution of body size in a group that comprises the largest animals in the history of life, although currently the lack of exact ancestor-descendant relationships remains to fully reveal the evolutionary history of body size.
[Mh] Termos MeSH primário: Gigantismo/veterinária
Filogenia
Baleias/anatomia & histologia
[Mh] Termos MeSH secundário: Animais
Tamanho Corporal/fisiologia
Comportamento Alimentar
Fósseis
Baleias/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170916
[Lr] Data última revisão:
170916
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161009
[St] Status:MEDLINE



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