Base de dados : MEDLINE
Pesquisa : C05.330.495 [Categoria DeCS]
Referências encontradas : 2764 [refinar]
Mostrando: 1 .. 10   no formato [Detalhado]

página 1 de 277 ir para página                         

  1 / 2764 MEDLINE  
              next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29201146
[Au] Autor:Morrison SC; McClymont J; Price C; Nester C
[Ad] Endereço:School of Health Sciences, University of Brighton, 49 Darley Road, Eastbourne Campus, Brighton, BN20 7UR UK.
[Ti] Título:Time to revise our dialogue how is the paediatric ?
[So] Source:J Foot Ankle Res;10:50, 2017.
[Is] ISSN:1757-1146
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:A recent systematic review of measures of foot development used the medial longitudinal arch profile as its primary indicator of development. A comparative analysis of existing studies was undertaken. This work confirmed changes with arch profile were age-dependent, although the age at which foot development ceased remains unknown. This work also highlighted the abundance of clinical measures used in existing research and outlined the challenges with drawing consensus from available data. There is a clear need to move this debate forward and, to do so, it is essential that scientific and clinical communities unite. It is time to abandon ill-defined measures of foot position, look beyond the medial longitudinal arch as a sole parameter of foot development and re-focus our perspective(s) on the paediatric foot in order to make advances with clinical practice and research.
[Mh] Termos MeSH primário: Pé Chato/diagnóstico por imagem
Deformidades Congênitas do Pé/diagnóstico por imagem
/crescimento & desenvolvimento
[Mh] Termos MeSH secundário: Criança
Pé Chato/patologia
/anatomia & histologia
/diagnóstico por imagem
Deformidades Congênitas do Pé/patologia
Seres Humanos
Imagem por Ressonância Magnética/métodos
Literatura de Revisão como Assunto
Articulação Talocalcânea/diagnóstico por imagem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180205
[Lr] Data última revisão:
180205
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171205
[St] Status:MEDLINE
[do] DOI:10.1186/s13047-017-0233-2


  2 / 2764 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:29287866
[Au] Autor:Paquay S; Wiame E; Deggouj N; Boschi A; De Siati RD; Sznajer Y; Nassogne MC
[Ad] Endereço:Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium. Electronic address: stephanie.paquay@uclouvain.be.
[Ti] Título:Childhood hearing loss is a key feature of CAPOS syndrome: A case report.
[So] Source:Int J Pediatr Otorhinolaryngol;104:191-194, 2018 Jan.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disorder, recently associated with the c.2452G > A hotspot mutation in the ATP1A3 gene, with sensorineural hearing loss as a prominent feature. We herein report on a girl who has experienced hearing loss for three years following an initial encephalitic episode when aged 15 months old. CAPOS was diagnosed only when she was six years old by targeted testing whilst she displayed optic atrophy, cerebellar signs and areflexia. CAPOS syndrome should be considered in the differential diagnosis of acquired childhood deafness, prompting clinicians to search for associated neurological features.
[Mh] Termos MeSH primário: Ataxia Cerebelar/diagnóstico
Deformidades Congênitas do Pé/diagnóstico
Perda Auditiva Neurossensorial/etiologia
Atrofia Óptica/diagnóstico
[Mh] Termos MeSH secundário: Ataxia Cerebelar/complicações
Criança
Diagnóstico Diferencial
Feminino
Deformidades Congênitas do Pé/complicações
Perda Auditiva Neurossensorial/complicações
Perda Auditiva Neurossensorial/diagnóstico
Testes Auditivos
Seres Humanos
Mutação
Atrofia Óptica/complicações
Reflexo Anormal
ATPase Trocadora de Sódio-Potássio/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.6.3.9 (ATP1A3 protein, human); EC 3.6.3.9 (Sodium-Potassium-Exchanging ATPase)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180116
[Lr] Data última revisão:
180116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171231
[St] Status:MEDLINE


  3 / 2764 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28877185
[Au] Autor:Puszczalowska-Lizis E; Bujas P; Omorczyk J; Jandzis S; Zak M
[Ad] Endereço:Institute of Physiotherapy, Faculty of Medicine, University of Rzeszow, Rzeszow, Poland.
[Ti] Título:Feet deformities are correlated with impaired balance and postural stability in seniors over 75.
[So] Source:PLoS One;12(9):e0183227, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Understanding the factors and mechanisms that determine balance in seniors appears vital in terms of their self-reliance and overall safety. The study aimed to determine the relationship between the features of feet structure and the indicators of postural stability in the elderly. METHODS: The study group comprised 80 seniors (41F, 39M; aged 75-85 years). CQ-ST podoscope and the CQ-Stab 2P two-platform posturograph were used as primary research tools. The data were analyzed based on Spearman's rank correlation and forward stepwise regression. RESULTS: Analysis of forward stepwise regression identified the left foot length in females and Clarke's angle of the left foot in men as significant and independent predictors of postural up to 30% of the variance of dependent variables. CONCLUSIONS: Longer feet provide older women with better stability, whereas in men, the lowering of the longitudinal arch results in postural deterioration. In the elderly, the left lower limb shows greater activity in the stabilizing processes in the standing position than the right one. In gerontological rehabilitation special attention should be paid to the individually tailored, gender-specific treatment, with a view to enhancing overall safety and quality of seniors' lives.
[Mh] Termos MeSH primário: Deformidades Congênitas do Pé/fisiopatologia
Equilíbrio Postural
[Mh] Termos MeSH secundário: Idoso
Idoso de 80 Anos ou mais
Feminino
Seres Humanos
Masculino
Modelos Biológicos
Análise de Regressão
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171016
[Lr] Data última revisão:
171016
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170907
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0183227


  4 / 2764 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28846100
[Au] Autor:Will AJ; Cova G; Osterwalder M; Chan WL; Wittler L; Brieske N; Heinrich V; de Villartay JP; Vingron M; Klopocki E; Visel A; Lupiáñez DG; Mundlos S
[Ad] Endereço:Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany.
[Ti] Título:Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).
[So] Source:Nat Genet;49(10):1539-1545, 2017 Oct.
[Is] ISSN:1546-1718
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Copy number variations (CNVs) often include noncoding sequences and putative enhancers, but how these rearrangements induce disease is poorly understood. Here we investigate CNVs involving the regulatory landscape of IHH (encoding Indian hedgehog), which cause multiple, highly localized phenotypes including craniosynostosis and synpolydactyly. We show through transgenic reporter and genome-editing studies in mice that Ihh is regulated by a constellation of at least nine enhancers with individual tissue specificities in the digit anlagen, growth plates, skull sutures and fingertips. Consecutive deletions, resulting in growth defects of the skull and long bones, showed that these enhancers function in an additive manner. Duplications, in contrast, caused not only dose-dependent upregulation but also misexpression of Ihh, leading to abnormal phalanges, fusion of sutures and syndactyly. Thus, precise spatiotemporal control of developmental gene expression is achieved by complex multipartite enhancer ensembles. Alterations in the composition of such clusters can result in gene misexpression and disease.
[Mh] Termos MeSH primário: Doenças do Desenvolvimento Ósseo/genética
Elementos Facilitadores Genéticos/genética
Regulação da Expressão Gênica no Desenvolvimento/genética
Proteínas Hedgehog/fisiologia
Osteogênese/genética
[Mh] Termos MeSH secundário: Animais
Sequência de Bases
Variações do Número de Cópias de DNA
Proteínas de Ligação a DNA/deficiência
Proteínas de Ligação a DNA/genética
Deformidades Congênitas do Pé/genética
Deleção de Genes
Dosagem de Genes
Duplicação Gênica
Técnicas de Inativação de Genes
Genes Reporter
Proteínas Hedgehog/deficiência
Proteínas Hedgehog/genética
Camundongos
Camundongos Endogâmicos C57BL
Polidactilia/genética
Sequências Reguladoras de Ácido Nucleico
Análise de Sequência de DNA
Crânio/anormalidades
Transcrição Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (Hedgehog Proteins); 0 (XLF protein, mouse); 0 (ihh protein, mouse)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170829
[St] Status:MEDLINE
[do] DOI:10.1038/ng.3939


  5 / 2764 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28422522
[Au] Autor:Cao L; Yang W; Wang S; Chen C; Zhang X; Luo Y
[Ad] Endereço:1 The Research Center for Medical Genomics, Key Laboratory of Cell Biology, Ministry of Public Health, Key Laboratory of Medical Cell Biology, Ministry of Education, China Medical University , Shenyang, China .
[Ti] Título:Molecular Genetic Characterization of a Chinese Family with Severe Split Hand/Foot Malformation.
[So] Source:Genet Test Mol Biomarkers;21(6):357-362, 2017 Jun.
[Is] ISSN:1945-0257
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:AIMS: Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM is a genetically heterogeneous disease; the aim of this study was to identify pathogenic variations in a Chinese family with SHFM. MATERIALS AND METHODS: Haplotype analyses with microsatellite markers covering the five SHFM loci were performed to localize the causative locus. Real-time quantitative polymerase chain reaction (qPCR) assays and inverse PCR were performed to determine the copy number variations and to amplify junction breakpoints in affected individuals. Candidate genes were further screened for mutations through Sanger sequencing. RESULTS: A potential haplotype in the SHFM3 locus was shared by all affected individuals. qPCR and inverse PCR showed a microduplication at chromosome 10q24 spanning 488,859 bp and encompassing five entire genes, LBX1, BTRC, POLL, DPCD, and FBXW4, that co-segregated with the SHFM phenotype. No coding or splice-site mutations of these genes were found. CONCLUSION: We determined the molecular basis of SHFM in a Chinese family by haplotype analysis, qPCR, inverse PCR, and Sanger sequencing. Our work extends the clinical spectrum of SHFM3; provides a fine-scale delineation of the chromosomal breakpoints helping to narrow the critical region of SHFM3; and facilitates an understanding of the mechanisms underlying abnormal limb development and extraskeletal anomalies.
[Mh] Termos MeSH primário: Deformidades Congênitas dos Membros/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
China
Cromossomos Humanos Par 10/genética
Variações do Número de Cópias de DNA
Feminino
Deformidades Congênitas do Pé/genética
Duplicação Gênica/genética
Deformidades Congênitas da Mão/genética
Haplótipos
Seres Humanos
Masculino
Mutação/genética
Linhagem
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171027
[Lr] Data última revisão:
171027
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170420
[St] Status:MEDLINE
[do] DOI:10.1089/gtmb.2016.0415


  6 / 2764 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28319210
[Au] Autor:Hadjichristou C; Christophidou-Anastasiadou V; Bakopoulou A; Tanteles GA; Loizidou MA; Kyriacou K; Hadjisavvas A; Michalakis K; Pissiotis A; Koidis P
[Ti] Título:Oculo-Dento-Digital Dysplasia (ODDD) Due to a GJA1 Mutation: Report of a Case with Emphasis on Dental Manifestations.
[So] Source:Int J Prosthodont;30(3):280­285, 2017 May/June.
[Is] ISSN:0893-2174
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Oculo-dento-digital dysplasia (ODDD) is a congenital disorder manifesting with multiple phenotypic abnormalities involving the face, eyes, teeth, and limbs in addition to neurologic symptomatology. This report aims to present a female patient with ODDD who was referred due to extensive oral restorative needs. The presence of hypoplastic enamel triggered further evaluation. Characteristic facies with hypoplastic alae nasi and syndactyly offered greater insight into the phenotype of the syndrome. Clinical suspicion was confirmed by genetic sequencing revealing heterozygous mutation in GJA1. It is important to be aware of genetic disorders associated with characteristic dental malformations to offer appropriate counseling and treatment.
[Mh] Termos MeSH primário: Conexina 43/genética
Anormalidades Craniofaciais/genética
Anormalidades do Olho/genética
Deformidades Congênitas do Pé/genética
Reabilitação Bucal/métodos
Sindactilia/genética
Anormalidades Dentárias/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Mutação
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Connexin 43); 0 (GJA1 protein, human)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170717
[Lr] Data última revisão:
170717
[Sb] Subgrupo de revista:D
[Da] Data de entrada para processamento:170321
[St] Status:MEDLINE
[do] DOI:10.11607/ijp.5130


  7 / 2764 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28236079
[Au] Autor:Dobbs MB; Gurnett CA
[Ad] Endereço:Department of Orthopaedics, St. Louis Children's Hospital, 1 Children's Place, Suite 4S-60, St. Louis, MO, 63110, USA. dobbsm@wudosis.wustl.edu.
[Ti] Título:The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research.
[So] Source:Clin Orthop Relat Res;475(6):1716-1725, 2017 Jun.
[Is] ISSN:1528-1132
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Clubfoot is one of the most common pediatric orthopaedic disorders. While the Ponseti method has revolutionized clubfoot treatment, it is not effective for all patients. When the Ponseti method does not correct the foot, patients are at risk for lifelong disability and may require more-extensive surgery. QUESTIONS/PURPOSES: (1) What genetic and morphologic abnormalities contribute to the development of clubfoot? (2) How can this information be used to devise personalized treatment paradigms for patients with clubfoot? METHODS: Human gene sequencing, molecular genetic engineering of mouse models of clubfoot, MRI of clubfoot, and development of new treatment methods all have been used by our group to understand the biological basis and improve therapy for this group of disorders. RESULTS: We gained new insight into clubfoot pathogenesis from our discovery that mutations in the PITX1-TBX4-HOXC transcriptional pathway cause familial clubfoot and vertical talus in a small number of families, with the unique lower limb expression of these genes providing an explanation for the lack of upper extremity involvement in these disorders. MRI studies revealed corresponding morphologic abnormalities, including hypomorphic muscle, bone, and vasculature, that are not only associated with these gene mutations, but also are biomarkers for treatment-resistant clubfoot. CONCLUSIONS: Based on an understanding of the underlying biology, we improved treatment methods for neglected and syndromic clubfoot, developed new treatment for congenital vertical talus based on the principles of the Ponseti method, and designed a new dynamic clubfoot brace to improve strength and compliance.
[Mh] Termos MeSH primário: Pé Torto Equinovaro/genética
Pé Torto Equinovaro/terapia
Procedimentos Ortopédicos/métodos
Medicina de Precisão/métodos
Pesquisa Médica Translacional
[Mh] Termos MeSH secundário: Animais
Distinções e Prêmios
Braquetes
Criança
Pré-Escolar
Pé Chato
Deformidades Congênitas do Pé/genética
Deformidades Congênitas do Pé/terapia
Redes Reguladoras de Genes/genética
Proteínas de Homeodomínio/genética
Seres Humanos
Lactente
Camundongos
Fatores de Transcrição Box Pareados/genética
Análise de Sequência de DNA
Proteínas com Domínio T-Box/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (Paired Box Transcription Factors); 0 (T-Box Domain Proteins); 0 (TBX4 protein, human); 0 (homeobox protein PITX1)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170226
[St] Status:MEDLINE
[do] DOI:10.1007/s11999-017-5290-0


  8 / 2764 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28182859
[Au] Autor:Aebi J; Horisberger M; Frigg A
[Ad] Endereço:1 Department of Orthopaedic Surgery, University Hospital Basel, Basel, Switzerland.
[Ti] Título:Radiographic Study of Pes Planovarus.
[So] Source:Foot Ankle Int;38(5):526-531, 2017 May.
[Is] ISSN:1944-7876
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Depending on the direction of the subtalar joint, a foot deformity generally tends towards pronation (pes planovalgus) or supination (pes cavovarus). However, the combination of hindfoot varus and flat midfoot/forefoot (pes planovarus) is an exception to this rule. Pes planovarus has so far only been referred to in connection with Müller-Weiss disease and congenital disease. We diagnosed pes planovarus in otherwise healthy patients without these diseases. METHODS: Forty patients with 54 symptomatic feet who were treated between August 2012 and July 2016 were included (mean age, 44.1 ± 15.7 years; 15 male/25 female). They were selected from 1064 consecutive cases (3.8%). Inclusion criteria were hindfoot varus and flat midfoot/forefoot. Their symptoms, radiographs, and therapies within the first 3 months were retrospectively analyzed. The position in the hindfoot alignment view (HAV), talometatarsal-1 angle lateral (TMT1lat) and dorsoplantar (TMT1dp), talocalcaneal angle lateral (TCAlat) and dorsoplantar (TCAdp), and calcaneal pitch angle (CPA) were measured on a DICOM/PACS system. RESULTS: The mean radiological results (standard values from the literature in brackets) were as follows: the hindfoot was significantly in varus in the HAV (-6.9 ± 3.6 mm [-1.6 ± 7.2 mm]; P < .001), the TMT1lat was significantly flatter (-6.7 ± 5.8 degrees [8.4 ± 5.9 degrees]; P < .001), the TMT1dp was significantly less in abduction (1.5 ± 7.9 degrees [7.7 ± 8.2 degrees]; P = .005), the TCAdp showed no difference (25.9 ± 7.9 degrees [24.1 ± 5.7 degrees]; P = .118), the TCAlat was significantly larger (47.5 ± 6.1 degrees [43.4 ± 7.1 degrees]; P < .001), and the CPA was significantly flatter (17.6 ± 3.9 degrees [24.5 ± 3.0 degrees]; P < .001). The most frequent symptoms were stress-induced foot pain (n = 33), hallux valgus (n = 20), chronic ankle instability (n = 17), metatarsalgia (n = 15), chronic midfoot pain (n = 13), heel pain (n = 12), and lesser toe deformities (n = 8). Thirty-one feet were treated conservatively and 23 operatively. CONCLUSION: This study showed the existence of pes planovarus without Müller-Weiss disease or congenital disease. This unusual foot form leads to difficulties if standard treatment strategies are applied, which raises the issue of the correct treatment for such patients. LEVEL OF EVIDENCE: Level IV, retrospective case series.
[Mh] Termos MeSH primário: Calcâneo/cirurgia
Pé Chato/cirurgia
Deformidades Congênitas do Pé/cirurgia
Deformidades do Pé/cirurgia
Hallux Valgus/cirurgia
Radiografia/métodos
Articulação Talocalcânea/fisiologia
[Mh] Termos MeSH secundário: Deformidades Congênitas do Pé/fisiopatologia
Hallux Valgus/fisiopatologia
Seres Humanos
Estudos Retrospectivos
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170210
[St] Status:MEDLINE
[do] DOI:10.1177/1071100717690440


  9 / 2764 MEDLINE  
              first record previous record next record last record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28169396
[Au] Autor:Tang L; Wu X; Zhang H; Lu S; Wu M; Shen C; Chen X; Wang Y; Wang W; Shen Y; Gu M; Ding X; Jin X; Fei J; Wang Z
[Ad] Endereço:State Key Laboratory of Medical Genomics, Research Center for Experimental Medicine, Rui-Jin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine (SJTUSM), Shanghai, P.R. China.
[Ti] Título:A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome.
[So] Source:Hum Mol Genet;26(7):1280-1293, 2017 Apr 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Human multiple synostoses syndrome (SYNS) is an autosomal dominant disorder characterized by multiple joint fusions. We previously identified a point mutation (S99N) in FGF9 that causes human SYNS3. However, the physiological function of FGF9 during joint development and comprehensive molecular portraits of SYNS3 remain elusive. Here, we report that mice harboring the S99N mutation in Fgf9 develop the curly tail phenotype and partially or fully fused caudal vertebrae and limb joints, which mimic the major phenotypes of SYNS3 patients. Further study reveals that the S99N mutation in Fgf9 disrupts joint interzone formation by affecting the chondrogenic differentiation of mesenchymal cells at the early stage of joint development. Consistently, the limb bud micromass culture (LBMMC) assay shows that Fgf9 inhibits mesenchymal cell differentiation into chondrocytes by downregulating the expression of Sox6 and Sox9. However, the mutant protein does not exhibit the same inhibitory effect. We also show that Fgf9 is required for normal expression of Gdf5 in the prospective elbow and knee joints through its activation of Gdf5 promoter activity. Signal transduction assays indicate that the S99N mutation diminishes FGF signaling in developmental limb joints. Finally, we demonstrate that the conformational change in FGF9 resulting from the S99N mutation disrupts FGF9/FGFR/heparin interaction, which impedes FGF signaling in developmental joints. Taken together, we conclude that the S99N mutation in Fgf9 causes SYNS3 via the disturbance of joint interzone formation. These results further implicate the crucial role of Fgf9 during embryonic joint development.
[Mh] Termos MeSH primário: Ossos do Carpo/anormalidades
Diferenciação Celular/genética
Fator 9 de Crescimento de Fibroblastos/genética
Deformidades Congênitas do Pé/genética
Deformidades Congênitas da Mão/genética
Estribo/anormalidades
Sinostose/genética
Ossos do Tarso/anormalidades
[Mh] Termos MeSH secundário: Animais
Ossos do Carpo/fisiopatologia
Condrogênese/genética
Fator 9 de Crescimento de Fibroblastos/biossíntese
Fator 9 de Crescimento de Fibroblastos/química
Deformidades Congênitas do Pé/fisiopatologia
Regulação da Expressão Gênica no Desenvolvimento
Fator 5 de Diferenciação de Crescimento/genética
Deformidades Congênitas da Mão/fisiopatologia
Seres Humanos
Articulações/crescimento & desenvolvimento
Articulações/patologia
Camundongos
Mutação Puntual
Conformação Proteica
Fatores de Transcrição SOX9/genética
Fatores de Transcrição SOXD/genética
Transdução de Sinais
Estribo/fisiopatologia
Sinostose/fisiopatologia
Ossos do Tarso/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (FGF9 protein, human); 0 (Fgf9 protein, mouse); 0 (Fibroblast Growth Factor 9); 0 (Gdf5 protein, mouse); 0 (Growth Differentiation Factor 5); 0 (SOX9 Transcription Factor); 0 (SOXD Transcription Factors); 0 (Sox6 protein, mouse); 0 (Sox9 protein, mouse)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170515
[Lr] Data última revisão:
170515
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170208
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddx029


  10 / 2764 MEDLINE  
              first record previous record
seleciona
para imprimir
Fotocópia
Texto completo
[PMID]:28169040
[Au] Autor:Topal M; Köse A; Dinçer R; Baran T; Köse M; Çagatay Engin M
[Ad] Endereço:TC SB SBÜ Erzurum Bölge Egitim ve Arastirma Hastanesi, Ortopedi ve Travmatoloji Klinigi, Turkey. Electronic address: topal.md@gmail.com.
[Ti] Título:Os subtibiale: Mimicking medial malleolar fracture.
[So] Source:Am J Emerg Med;35(6):940.e1-940.e3, 2017 Jun.
[Is] ISSN:1532-8171
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:There are numerous sesamoids and accessory ossicles around the foot which can easily be misdiagnosed as fractures. Os subtibiale is a very rare normal variant of the medial malleolus which is usually diagnosed incidentally in routine ankle radiographs. In this report, we present a case series of 3 patients with os subtibiale who were admitted to the emergency department with ankle sprains and misdiagnosed as medial malleolar fractures. We would like to raise awareness to the very rare and usually asymptomatic os subtibiale as a diagnostic pitfall.
[Mh] Termos MeSH primário: Traumatismos do Tornozelo/diagnóstico por imagem
Articulação do Tornozelo/diagnóstico por imagem
Deformidades Congênitas do Pé/diagnóstico por imagem
Ossos do Tarso/anormalidades
Ossos do Tarso/diagnóstico por imagem
[Mh] Termos MeSH secundário: Fraturas do Tornozelo/diagnóstico
Criança
Diagnóstico Diferencial
Feminino
Seres Humanos
Masculino
Radiografia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170208
[St] Status:MEDLINE



página 1 de 277 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