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[PMID]:28604967
[Au] Autor:Guo X; Chen W; Lin M; Shi T; Huang D; Wang Z
[Ad] Endereço:Department of Laboratory Medicine, Fuzhou Second Hospital Affiliated to Xiamen University, Fuzhou, Fujian 350007, China. chenwx1969@126.com.
[Ti] Título:[Analysis of a multiple osteochondroma case caused by novel splice mutation (c.1164+1G to A) of EXT1 gene].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(3):411-415, 2017 Jun 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To detect potential mutation of EXT1 gene in a pedigree affected with multiple osteochondroma and explore its pathogenic mechanism. METHODS: The coding regions and their flanking sequences of the EXT1/EXT2 genes were subjected to PCR amplification and Sanger sequencing. Suspected mutations were verified by excluding possible single nucleotide polymorphisms and bioinformatics analysis. Transcripts of the EXT1 gene in the proband were analyzed by TA clone-sequencing, with its abundance compared with that of healthy controls. RESULTS: DNA sequencing has identified in the proband a novel heterozygous point mutation (c.1164+1G to A) at the 5'splice sites of intron 3 of the EXT1 gene. The same mutation was not found in the healthy controls. Bioinformatics analysis indicated that the mutation is highly conserved and can lead to skipping of exon 3 or aberrant splicing. TA clone-sequencing indicated that the numbers of transcripts with skipping of exon 3 has significantly increased in the proband (< 0.05) compared with the controls. CONCLUSION: The c.1164+1G to A mutation has resulted in skipping of exon 3 in a proportion of EXT1 gene transcripts. As the result, the number of transcripts with tumor suppressing function is relatively reduced and has ultimately led to the tumors.
[Mh] Termos MeSH primário: Exostose Múltipla Hereditária/genética
N-Acetilglucosaminiltransferases/genética
Mutação Puntual
Processamento de RNA
[Mh] Termos MeSH secundário: Adulto
Sequência de Bases
Criança
Feminino
Seres Humanos
Masculino
Dados de Sequência Molecular
Sítios de Splice de RNA
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RNA Splice Sites); EC 2.4.1.- (N-Acetylglucosaminyltransferases); EC 2.4.1.224 (exostosin-1)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170613
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.03.022


  2 / 1097 MEDLINE  
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[PMID]:28445472
[Au] Autor:Sinha S; Mundy C; Bechtold T; Sgariglia F; Ibrahim MM; Billings PC; Carroll K; Koyama E; Jones KB; Pacifici M
[Ad] Endereço:Translational Research Program in Pediatric Orthopaedics, Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.
[Ti] Título:Unsuspected osteochondroma-like outgrowths in the cranial base of Hereditary Multiple Exostoses patients and modeling and treatment with a BMP antagonist in mice.
[So] Source:PLoS Genet;13(4):e1006742, 2017 Apr.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Hereditary Multiple Exostoses (HME) is a rare pediatric disorder caused by loss-of-function mutations in the genes encoding the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2. HME is characterized by formation of cartilaginous outgrowths-called osteochondromas- next to the growth plates of many axial and appendicular skeletal elements. Surprisingly, it is not known whether such tumors also form in endochondral elements of the craniofacial skeleton. Here, we carried out a retrospective analysis of cervical spine MRI and CT scans from 50 consecutive HME patients that included cranial skeletal images. Interestingly, nearly half of the patients displayed moderate defects or osteochondroma-like outgrowths in the cranial base and specifically in the clivus. In good correlation, osteochondromas developed in the cranial base of mutant Ext1f/f;Col2-CreER or Ext1f/f;Aggrecan-CreER mouse models of HME along the synchondrosis growth plates. Osteochondroma formation was preceded by phenotypic alteration of cells at the chondro-perichondrial boundary and was accompanied by ectopic expression of major cartilage matrix genes -collagen 2 and collagen X- within the growing ectopic masses. Because chondrogenesis requires bone morphogenetic protein (BMP) signaling, we asked whether osteochondroma formation could be blocked by a BMP signaling antagonist. Systemic administration with LDN-193189 effectively inhibited osteochondroma growth in conditional Ext1-mutant mice. In vitro studies with mouse embryo chondrogenic cells clarified the mechanisms of LDN-193189 action that turned out to include decreases in canonical BMP signaling pSMAD1/5/8 effectors but interestingly, concurrent increases in such anti-chondrogenic mechanisms as pERK1/2 and Chordin, Fgf9 and Fgf18 expression. Our study is the first to reveal that the cranial base can be affected in patients with HME and that osteochondroma formation is amenable to therapeutic drug intervention.
[Mh] Termos MeSH primário: Exostose Múltipla Hereditária/genética
N-Acetilglucosaminiltransferases/genética
Osteocondroma/genética
Proteína Smad1/genética
[Mh] Termos MeSH secundário: Animais
Proteínas Morfogenéticas Ósseas/genética
Proteínas Morfogenéticas Ósseas/metabolismo
Medula Cervical/metabolismo
Medula Cervical/patologia
Condrogênese/genética
Modelos Animais de Doenças
Desenvolvimento Embrionário/genética
Exostose Múltipla Hereditária/diagnóstico por imagem
Exostose Múltipla Hereditária/tratamento farmacológico
Exostose Múltipla Hereditária/patologia
Lâmina de Crescimento/metabolismo
Lâmina de Crescimento/patologia
Heparitina Sulfato/biossíntese
Seres Humanos
Imagem por Ressonância Magnética
Camundongos
Camundongos Knockout
Mutação
Osteocondroma/diagnóstico por imagem
Osteocondroma/patologia
Pirazóis/administração & dosagem
Pirimidinas/administração & dosagem
Tomografia Computadorizada de Emissão
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bone Morphogenetic Proteins); 0 (LDN 193189); 0 (Pyrazoles); 0 (Pyrimidines); 0 (Smad1 Protein); 0 (Smad1 protein, mouse); 9050-30-0 (Heparitin Sulfate); EC 2.4.1.- (N-Acetylglucosaminyltransferases); EC 2.4.1.224 (exostosin-1); EC 2.4.1.224 (exostosin-2)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170601
[Lr] Data última revisão:
170601
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170427
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006742


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[PMID]:28197752
[Au] Autor:Guindani N; Eberhardt O; Wirth T; Surace MF; Fernandez FF
[Ad] Endereço:Orthopädische Klinik des Olgahospitals, Klinikum Stuttgart (DE), Kriegsbergstrasse 62, 70174, Stuttgart, Germany. nicola.guindani@gmail.com.
[Ti] Título:Surgical dislocation for pediatric and adolescent hip deformity: clinical and radiographical results at 3 years follow-up.
[So] Source:Arch Orthop Trauma Surg;137(4):471-479, 2017 Apr.
[Is] ISSN:1434-3916
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: The aim of this study is to evaluate the clinical, radiographic short-term results and complications after surgical hip dislocation in young patients (≤18 years). MATERIALS AND METHODS: Clinical and radiographic outcomes were assessed in patients who underwent a surgical hip dislocation Ganz-type approach between 2008 and 2012. Diagnosis included Legg-Calvé-Perthes disease, slipped capital femoral epiphysis, femoroacetabular impingement, osteonecrosis of the femoral head, multiple hereditary exostoses and pigmented villonodular synovitis. Clinical data, the modified Harris hip score, nonarthritic hip score, 12-item short form health survey, the Stulberg classification, morphometric indexes, signs of osteonecrosis and osteoarthrosis were used for the evaluation. RESULTS: After a mean 3 years follow-up (range 0.5-6 years), 53 hips (51 patients) were evaluated. The most common diagnoses were Legg-Calvé-Perthes disease, slipped capital femoral epiphysis, femoroacetabular impingement and multiple hereditary exostoses. Mean age at surgery was 14 years (range 10-18 years). Through this approach femoral head-neck osteoplasty, Dunn-type osteotomy, labrum refixation, synovectomy, femoral head mosaicplasty open reduction and fixation for slipped capital femoral epiphysis were performed, finally in association with pelvic or intertrochanteric osteotomy. At follow-up, better outcome scores were obtained, progression of the osteonecrosis of the femoral head was observed in four cases and three further patients required the implant of a total hip prosthesis. CONCLUSIONS: After 3 years follow-up, results are comparable to previous studies and patients have a high rate of satisfaction, however the effectiveness of those procedures have to be proved on the long term. Results and complications seem to be related with preoperative lesion(s) and type of treatment. LEVEL OF EVIDENCE: Level IV, retrospective study, case series.
[Mh] Termos MeSH primário: Exostose Múltipla Hereditária/cirurgia
Impacto Femoroacetabular/cirurgia
Doença de Legg-Calve-Perthes/cirurgia
Osteotomia/métodos
Escorregamento das Epífises Proximais do Fêmur/cirurgia
[Mh] Termos MeSH secundário: Adolescente
Artroplastia de Quadril
Criança
Feminino
Cabeça do Fêmur/cirurgia
Necrose da Cabeça do Fêmur/cirurgia
Seguimentos
Luxação do Quadril
Seres Humanos
Masculino
Procedimentos Ortopédicos/métodos
Estudos Retrospectivos
Índice de Gravidade de Doença
Sinovite Pigmentada Vilonodular/cirurgia
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170602
[Lr] Data última revisão:
170602
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170216
[St] Status:MEDLINE
[do] DOI:10.1007/s00402-017-2644-8


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[PMID]:28127865
[Au] Autor:McCool C; Spinks-Franklin A; Noroski LM; Potocki L
[Ad] Endereço:Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
[Ti] Título:Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.
[So] Source:Am J Med Genet A;173(3):716-720, 2017 Mar.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Potocki-Shaffer syndrome is a contiguous gene deletion syndrome involving 11p11.2p12 and characterized by multiple exostoses, biparietal foramina, genitourinary anomalies in males, central nervous system abnormalities, intellectual disability, and craniofacial abnormalities. Current literature implicates haploinsufficiency of three genes (ALX4, EXT2, and PHF21A) in causing some of the cardinal features of PSS. We report a patient with multiple exostoses, biparietal foramina, and history of mild developmental delay. Cognitive and behavioral testing supported formal diagnoses of anxiety, verbal dyspraxia, articulation disorder, and coordination disorder, without intellectual disability. His facial features, though distinctive, were not typical of those observed in PSS. As the chromosomal deletion does not encompass PHF21A, this case lends further support that haploinsufficiency of PHF21A contributes to the intellectual disability and craniofacial abnormalities in PSS and that there are other genes in the region which likely contribute to the behavioral phenotype in this syndrome. © 2017 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Transtornos Cromossômicos/diagnóstico
Transtornos Cromossômicos/genética
Cognição
Exostose Múltipla Hereditária/diagnóstico
Exostose Múltipla Hereditária/genética
Histona Desacetilases/genética
Fenótipo
[Mh] Termos MeSH secundário: Pré-Escolar
Bandeamento Cromossômico
Deleção Cromossômica
Mapeamento Cromossômico
Cromossomos Humanos Par 11/genética
Hibridização Genômica Comparativa
Deleção de Genes
Estudos de Associação Genética
Haploinsuficiência
Seres Humanos
Masculino
Radiografia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.5.1.- (PHF21A protein, human); EC 3.5.1.98 (Histone Deacetylases)
[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:170128
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37988


  5 / 1097 MEDLINE  
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[PMID]:28072741
[Au] Autor:Marginean CO; Melit LE; Marginean MO
[Ad] Endereço:Department of Pediatrics I, University of Medicine and Pharmacy, Tirgu Mures, Romania.
[Ti] Título:Daughter and mother diagnosed with hereditary multiple exostoses: A case report and a review of the literature.
[So] Source:Medicine (Baltimore);96(1):e5824, 2017 Jan.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Hereditary multiple exostoses (HME) or osteochondromatosis is a rare autosomal dominant disease characterized by multiple osteochondromas and skeletal deformities. PATIENT CONCERNS & DIAGNOSES: We present the case of a 5 years and 9 month-old patient who presented with inferior limb pain for approximately 6 months, associating also deformity of the right index finger for a month. Hand X-ray revealed a radiologic abnormality of the right radius, therefore the child was referred to our clinic for further investigations. The X-rays revealed multiple osteochondromas of the radius, metacarpal bones, hand phalangeal bones, femur, tibia, fibula, metatarsal bones, and foot phalangeal bones. We mention that the same radiological aspect was identified in the case of the patient's mother, undiagnosed until that moment. OUTCOMES: The particularity of this case consists in identification of a rare genetic pathology, HME in a 5-year-old patient, without any known familial history, after the occurrence of a nontraumatic joint dislocation of the right index finger. CONCLUSION: HME is a rare genetic condition, without a curative treatment, burdened by multiple complications, and whose diagnosis is usually established during childhood.
[Mh] Termos MeSH primário: Osso e Ossos
Exostose Múltipla Hereditária
[Mh] Termos MeSH secundário: Adulto
Assistência ao Convalescente
Osso e Ossos/diagnóstico por imagem
Osso e Ossos/patologia
Pré-Escolar
Exostose Múltipla Hereditária/diagnóstico
Exostose Múltipla Hereditária/fisiopatologia
Seres Humanos
Monitorização Fisiológica
Radiografia/métodos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170224
[Lr] Data última revisão:
170224
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170111
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000005824


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[PMID]:28035357
[Au] Autor:Hong G; Guo X; Yan W; Li Q; Zhao H; Ma P; Hu X
[Ad] Endereço:Department of Laboratory Medicine, The First Affiliated Hospital of Xiamen University, Xiamen, Fujian 361003, P.R. China.
[Ti] Título:Identification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing.
[So] Source:Mol Med Rep;15(2):657-664, 2017 Feb.
[Is] ISSN:1791-3004
[Cp] País de publicação:Greece
[La] Idioma:eng
[Ab] Resumo:Multiple osteochondromas (MO) is an autosomal skeletal disease with an elusive molecular mechanism. To further elucidate the genetic mechanism of the disease a three­generation Chinese family with MO was observed and researched, and a novel frameshift mutation (c.335_336insA) in the exotosin 1 (EXT1) gene of one patient with MO was observed through exome sequencing. This was further validated by Sanger sequencing and comparison with 200 unrelated healthy controls. Immunohistochemistry and multiple sequence alignment were performed to determine the pathogenicity of the candidate mutation. Multiple sequence alignment suggested that codon 335 and 336 in the EXT1 gene were highly conserved regions in vertebrates. Immunohistochemistry revealed that EXT1 protein expression levels were decreased in a patient with MO and this mutation compared with a patient with MO who had no EXT1 mutation. Owing to the appearance of c.335_336insA in exon 1 of EXT1, a premature stop codon was introduced, resulting in truncated EXT1. As a result integrated and functional EXT1 was reduced. EXT1 is involved in the biosynthesis of heparan sulfate (HS), an essential molecule, and its dysfunction may lead to MO. The novel mutation of c.335_336insA in the EXT1 gene reported in the present study has enlarged the causal mutation spectrum of MO, and may assist genetic counseling and prenatal diagnosis of MO.
[Mh] Termos MeSH primário: Exostose Múltipla Hereditária/patologia
N-Acetilglucosaminiltransferases/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Sequência de Bases
Estudos de Casos e Controles
Criança
China
DNA/química
DNA/isolamento & purificação
DNA/metabolismo
Exostose Múltipla Hereditária/genética
Feminino
Mutação da Fase de Leitura
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Imuno-Histoquímica
Masculino
Linhagem
Alinhamento de Sequência
Análise de Sequência de DNA
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
9007-49-2 (DNA); EC 2.4.1.- (N-Acetylglucosaminyltransferases); EC 2.4.1.224 (exostosin-1)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170516
[Lr] Data última revisão:
170516
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161231
[St] Status:MEDLINE
[do] DOI:10.3892/mmr.2016.6086


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[PMID]:27933382
[Au] Autor:D'Ambrosi R; Ragone V; Caldarini C; Serra N; Usuelli FG; Facchini RM
[Ad] Endereço:Università degli Studi di Milano, Milan, Italy. riccardo.dambrosi@hotmail.it.
[Ti] Título:The impact of hereditary multiple exostoses on quality of life, satisfaction, global health status, and pain.
[So] Source:Arch Orthop Trauma Surg;137(2):209-215, 2017 Feb.
[Is] ISSN:1434-3916
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:PURPOSE: The aim of the study was to evaluate quality of life (QOL), global health status, pain, and level of satisfaction in patients with hereditary multiple exostoses (HME), and to correlate the association between the severity of diseases and age, sex, number of surgical procedures, and number of exostoses. METHODS: The data of 50 patients with HME were retrospectively evaluated and recorded. QOL was evaluated with the Short-Form Health Survey (SF-12) questionnaire, the 12-Item General Health Questionnaire (GHQ-12), and Quality of Life Enjoyment and Satisfaction Questionnaire (Q-LES-Q-SF); intensity of pain was measured using the visual analogue scale (VAS). The association of age, gender, pain, quality of life, number of exostoses, and number of surgical procedures were evaluated and correlated. RESULTS: Mean number of exostoses in our patient's cohort resulted 18.12 ± 8.60, and every patient underwent to a mean of 5.62 ± 5.74 surgical procedures for the exostoses. Mean VAS resulted 5.16 ± 2.90. Considering SF-12, mental (MCS) and physical (PCS) component resulted, respectively, 45.36 ± 10.76 and 38.73 ± 11.09, while GHQ-12 and Q-LES-Q-SF were 15.48 ± 4.70 and 45.28 ± 9.55, respectively. We found a significant positive correlation between the number of exostoses and the number of surgical procedures (p < 0.001), a significant positive correlation between the number of surgical procedures and GHQ-12 (p = 0.422) and VAS (p = 0.0011), and a negative correlation between the number of surgical procedures and PCS (p = 0.0257) and between age and GHQ-12 (p = 0.0385). CONCLUSIONS: We can conclude that HME impact on patient quality of life as measured by the MCS and PCS scores similar to the disability associated with osteoarthritis in the mental component and tumors or diabetes as regards the physical component. Moreover, we found no difference in patients' quality of life as regards number of exostoses, age, and surgical procedure, but we found that women have a worse response as regards the psychological side than men.
[Mh] Termos MeSH primário: Exostose Múltipla Hereditária/genética
Nível de Saúde
Inquéritos Epidemiológicos
Dor/etiologia
Satisfação Pessoal
Qualidade de Vida
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Idoso de 80 Anos ou mais
Exostose Múltipla Hereditária/epidemiologia
Exostose Múltipla Hereditária/psicologia
Feminino
Saúde Global
Seres Humanos
Masculino
Meia-Idade
Dor/diagnóstico
Dor/epidemiologia
Medição da Dor
Estudos Retrospectivos
Inquéritos e Questionários
Escala Visual Analógica
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161210
[St] Status:MEDLINE
[do] DOI:10.1007/s00402-016-2608-4


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[PMID]:26296227
[Au] Autor:Kang S; Kim JY; Park SS
[Ad] Endereço:Department of Orthopedic Surgery, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.
[Ti] Título:Outcomes of Hemiepiphyseal Stapling for Genu Valgum Deformities in Patients With Multiple Hereditary Exostoses: A Comparative Study of Patients With Deformities of Idiopathic Cause.
[So] Source:J Pediatr Orthop;37(4):265-271, 2017 Jun.
[Is] ISSN:1539-2570
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Patients with multiple hereditary exostoses (MHE) frequently present with a genu valgum deformity. Temporary hemiepiphysiodesis, such as hemiepiphyseal stapling, is a relatively safe surgical method to correct angular deformities in skeletally immature patients, but its outcomes for genu valgum deformity in MHE patients have not been extensively reported. We investigated the outcomes of hemiepiphyseal stapling in MHE patients (MHE group) and compared those with the outcomes in patients with idiopathic deformities (idiopathic group) after adjusting for potential bias. METHODS: Data from 70 limbs with genu valgum deformity (15 MHE and 55 idiopathic), which had undergone hemiepiphyseal stapling, were retrospectively reviewed. The outcomes were focused on the achievement of satisfactory correction and the velocity of correction. The independent effects of each characteristic on each outcome were investigated using multivariate analyses. The outcomes between the groups were also compared after 1:2 matching using propensity score analysis. RESULTS: The mean valgus angle of the MHE group was 7.4±4.1 degrees at stapling and was corrected to 1.3±3.0 degrees at staple removal. The rate of satisfactory corrections was not different between the MHE and idiopathic groups (67% and 70%, respectively, P=0.820). However, the correction velocity was significantly lower in the MHE group than in the idiopathic group on both multivariate analysis (P=0.001) and matching comparison (4.4 vs. 7.9 degrees/y, P<0.001). The duration of correction was longer in the MHE group than in the idiopathic group by approximately half a year (1.5±0.6 vs. 0.9±0.3 y, respectively, P=0.003). CONCLUSIONS: In MHE patients with genu valgum deformity, satisfactory correction can be achieved by hemiepiphyseal stapling and is comparable with that seen in idiopathic patients. However, the MHE group showed lower correction velocity and required a longer time by about one half year for correction compared with the idiopathic group. Temporary hemiepiphysiodesis should be considered at an earlier age for patients with MHE compared with those with idiopathic deformity. LEVEL OF EVIDENCE: Level III-prognostic study.
[Mh] Termos MeSH primário: Exostose Múltipla Hereditária/complicações
Genu Valgum/cirurgia
Grampeamento Cirúrgico/métodos
[Mh] Termos MeSH secundário: Remoção de Dispositivo
Exostose Múltipla Hereditária/diagnóstico por imagem
Feminino
Genu Valgum/diagnóstico por imagem
Genu Valgum/etiologia
Seres Humanos
Masculino
Radiografia
Estudos Retrospectivos
Resultado do Tratamento
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150822
[St] Status:MEDLINE
[do] DOI:10.1097/BPO.0000000000000628


  9 / 1097 MEDLINE  
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[PMID]:27895080
[Au] Autor:Yan G; Littlewood A; Latimer MD
[Ad] Endereço:University of Leicester Medical School, Leicester, UK.
[Ti] Título:Unusual cause of pleuritic chest pain in a child.
[So] Source:BMJ Case Rep;2016, 2016 Nov 28.
[Is] ISSN:1757-790X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:We present the case of a 5-year-old boy with hereditary multiple exostoses who presented with left-sided pleuritic chest pain. A CT scan of the chest revealed an intrathoracic exostosis in close association with the heart.
[Mh] Termos MeSH primário: Dor no Peito/etiologia
Exostose Múltipla Hereditária/complicações
[Mh] Termos MeSH secundário: Pré-Escolar
Seres Humanos
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170307
[Lr] Data última revisão:
170307
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161130
[St] Status:MEDLINE


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[PMID]:27815946
[Au] Autor:Chu A; Ong C; Henderson ER; Van Bosse HJ; Feldman DS
[Ti] Título:Distraction Osteogenesis of the Fibula to Correct Ankle Valgus in Multiple Hereditary Exostoses.
[So] Source:Bull Hosp Jt Dis (2013);74(4):249-253, 2016 Nov.
[Is] ISSN:2328-5273
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Gradual distal fibula lengthening (DFL), in conjunction with other procedures, was used to correct ankle valgus and short fibulae in three pediatric patients with multiple hereditary exostoses (MHE). The average amount of DFL was 15 mm with a mean follow-up of 2.9 years. Final radiographs showed that all three patients had a stable ankle mortise without evidence of talar tilt or widening. In conclusion, gradual DFL has the advantage of restoring anatomy in cases of ankle valgus due to short fibulae and MHE, and may be performed in conjunction with other procedures.
[Mh] Termos MeSH primário: Articulação do Tornozelo/cirurgia
Exostose Múltipla Hereditária/cirurgia
Fíbula/cirurgia
Deformidades Adquiridas do Pé/cirurgia
Osteogênese por Distração
Tíbia/cirurgia
[Mh] Termos MeSH secundário: Adolescente
Articulação do Tornozelo/diagnóstico por imagem
Articulação do Tornozelo/fisiopatologia
Fenômenos Biomecânicos
Remodelação Óssea
Parafusos Ósseos
Criança
Exostose Múltipla Hereditária/diagnóstico por imagem
Exostose Múltipla Hereditária/fisiopatologia
Fíbula/diagnóstico por imagem
Fíbula/fisiopatologia
Deformidades Adquiridas do Pé/diagnóstico
Deformidades Adquiridas do Pé/fisiopatologia
Seres Humanos
Masculino
Osteogênese por Distração/instrumentação
Recuperação de Função Fisiológica
Estudos Retrospectivos
Tíbia/diagnóstico por imagem
Tíbia/fisiopatologia
Fatores de Tempo
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170309
[Lr] Data última revisão:
170309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161106
[St] Status:MEDLINE



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