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[PMID]:29364934
[Au] Autor:Christen P; Boutroy S; Ellouz R; Chapurlat R; van Rietbergen B
[Ad] Endereço:Institute for Biomechanics, ETH Zurich, Zurich, Switzerland.
[Ti] Título:Least-detectable and age-related local in vivo bone remodelling assessed by time-lapse HR-pQCT.
[So] Source:PLoS One;13(1):e0191369, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We previously developed an image analysis approach for the determination of local sites of bone remodelling using time-lapse in vivo HR-pQCT. The involved image filtering for removing noise was chosen rather aggressively, and also removed some effects of the bone remodelling. In this paper, we quantify these filtering settings using ex vivo reproducibility HR-pQCT images, and determine the least-detectable bone remodelling using in vivo reproducibility HR-pQCT images, as well as testing whether the approach is capable of capturing age-related bone remodelling by use of in vivo long-term HR-pQCT images. We found that a threshold value of 225 mg HA/cm3 for the filtering led to acceptable results with falsely determined bone remodelling of less than 0.5%, and that the least-detectable bone formation and bone resorption are 2.0 ± 1.0% and 2.2 ± 0.7% respectively. We also found that age-related local bone remodelling can be captured satisfactorily in postmenopausal women. The latter revealed new insights into the effect of ageing on bone remodelling, and showed that bone remodelling seems to take place through a few small formation packets and many large resorption volumes leading to a net bone loss. We conclude that local in vivo bone remodelling can be successfully assessed with time-lapse in vivo HR-pQCT capable of assessing age-related changes in bone remodelling.
[Mh] Termos MeSH primário: Remodelação Óssea/fisiologia
Osso e Ossos/diagnóstico por imagem
Imagem com Lapso de Tempo/métodos
Tomografia Computadorizada por Raios X/métodos
[Mh] Termos MeSH secundário: Adulto
Idoso
Idoso de 80 Anos ou mais
Cadáver
Feminino
Seguimentos
Seres Humanos
Imagem Tridimensional/métodos
Masculino
Meia-Idade
Rádio (Anatomia)/diagnóstico por imagem
Reprodutibilidade dos Testes
Tíbia/diagnóstico por imagem
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180226
[Lr] Data última revisão:
180226
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180125
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191369


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[PMID]:29248929
[Au] Autor:Amasdl S; Smaili W; Natiq A; Hassani A; Sbiti A; Agadr A; Sanlaville D; Sefiani A
[Ad] Endereço:Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco.
[Ti] Título:Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.
[So] Source:Cytogenet Genome Res;153(2):66-72, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed. Because of their dysmorphic features, karyotyping, FISH, and aCGH were carried out. The probands had short stature, hypertelorism, midface hypoplasia, sensorineural hearing loss, normal intelligence as well as slight radial and ulnar bowing with brachytelephalangy. R-banding identified a derivative X chromosome with an abnormally expanded short arm. The mother was detected as a carrier of the same aberrant X chromosome. aCGH disclosed a 3.1-Mb distal deletion of chromosome region Xp22.33pter. This interval encompasses several genes, especially the short stature homeobox (SHOX) and arylsulfatase (ARSE) genes. The final karyotype of the probands was: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(DXYS129-,DXYS153-)mat.arr[hg19] Xp22.33(61091_2689408)×1mat,Xp22.33(2701273_3258404)×0mat,Yq11.222q12 (21412851_59310245)×2. Herein, we describe a Moroccan family with a maternally inherited X/Y translocation and discuss the genotype-phenotype correlations according to the deleted genes.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Arilsulfatases/genética
Cromossomos Humanos X/genética
Cromossomos Humanos Y/genética
Perda Auditiva Bilateral/genética
Perda Auditiva Neurossensorial/genética
Translocação Genética
[Mh] Termos MeSH secundário: Arilsulfatases/deficiência
Cromossomos Humanos X/ultraestrutura
Cromossomos Humanos Y/ultraestrutura
Consanguinidade
Feminino
Seres Humanos
Hipertelorismo/genética
Recém-Nascido
Cariotipagem
Masculino
Meia-Idade
Marrocos
Linhagem
Fenótipo
Rádio (Anatomia)/anormalidades
Escoliose/genética
Irmãos
Ulna/anormalidades
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.- (ARSE protein, human); EC 3.1.6.1 (Arylsulfatases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171218
[St] Status:MEDLINE
[do] DOI:10.1159/000485071


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[PMID]:29324908
[Au] Autor:O'Brien CE; Com G; Fowlkes J; Tang X; James LP
[Ad] Endereço:Department of Pharmacy Practice, University of Arkansas for Medical Sciences College of Pharmacy, Little Rock, Arkansas, United States of America.
[Ti] Título:Peripheral quantitative computed tomography detects differences at the radius in prepubertal children with cystic fibrosis compared to healthy controls.
[So] Source:PLoS One;13(1):e0191013, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: In 2015, 11.9% of people with cystic fibrosis (CF) in the United States had osteopenia, 5.1% osteoporosis, and 0.3% experienced a fracture. Screening for CF-related bone disease starts in childhood, and dual energy x-ray absorptiometry (DXA) is the recommended method. It is unknown whether peripheral quantitative computed tomography (pQCT) can detect deficits earlier than DXA. This study compared pQCT and DXA scans in a group of pre-pubertal children with CF and healthy controls. METHODS: This was a cross-sectional study of children at Tanner stage 1. A pQCT scan of the radius at proximal and distal sites was performed plus a total body DXA scan. Serum C-reactive protein, interleukin-6 and tumor necrosis factor-alpha were also measured. RESULTS: A total of 34 subjects completed the study; 14 with CF and 20 controls. At the distal radius, pQCT showed a lower total bone mineral density (BMD) Z-score for the CF group (P = 0.01 and P = 0.03 for 2 different reference databases) compared to controls. At the proximal site, the polar strength-strain index was lower in the CF group (P = 0.017). Finally, the total body BMD Z-score by DXA was lower in the CF group, although it did not meet the definition of reduced bone density (P = 0.004). Biomarkers of inflammation were not different. CONCLUSIONS: In this group of pre-pubertal children with CF, measures of bone strength and density by both pQCT and DXA were reduced compared to healthy controls.
[Mh] Termos MeSH primário: Fibrose Cística/diagnóstico por imagem
Rádio (Anatomia)/diagnóstico por imagem
Tomografia Computadorizada por Raios X/métodos
[Mh] Termos MeSH secundário: Absorciometria de Fóton
Densidade Óssea
Estudos de Casos e Controles
Criança
Estudos Transversais
Fibrose Cística/patologia
Feminino
Seres Humanos
Masculino
Projetos Piloto
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180215
[Lr] Data última revisão:
180215
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180112
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191013


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[PMID]:29257019
[Au] Autor:Murphy GRF; Logan MPO; Smith G; Sivakumar B; Smith P
[Ad] Endereço:Department of Plastic and Reconstructive Surgery, Great Ormond St. Hospital for Children, London, United Kingdom.
[Ti] Título:Correction of "Wrist" Deformity in Radial Dysplasia: A Systematic Review and Meta-Analysis.
[So] Source:J Bone Joint Surg Am;99(24):2120-2126, 2017 Dec 20.
[Is] ISSN:1535-1386
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Radial dysplasia affects 1 in 6,000 to 8,000 births, classically presenting with a shortened, bowed ulna and radially deviated hand. The optimal treatment remains unclear, with several opposing approaches advocated. This review aims to clarify the long-term outcomes of nonsurgical and surgical treatment of the "wrist" deformity. METHODS: The Embase, MEDLINE, PubMed, Cochrane Central, ClinicalTrials.gov, and World Health Organization International Clinical Trials Registry Platform (ICTRP) databases were searched for published and unpublished studies reporting long-term outcomes of surgical or nonsurgical treatment of children with radial dysplasia. Results were not restricted by date or language. Primary outcomes were hand-forearm angle, ulnar length, and "wrist" active range of motion (ROM). Studies were assessed using the Grades of Recommendation, Assessment, Development and Evaluation (GRADE) criteria. Data for the change in hand-forearm angle were pooled using random-effects meta-analysis, and mean differences and 95% confidence intervals were obtained. Primary outcome data at last follow-up were pooled, and means and standard deviations were obtained. The PROSPERO registration of this study was CRD42016036665. RESULTS: Of 104 studies identified, 12 were included in this review. Five were retrospective cohort studies and 7 were case series. No randomized studies were found. Study quality was low or very low according to the GRADE criteria. The hand-forearm angle of nonsurgically treated patients worsened during childhood, from 66° to 84°, whereas "wrist" active ROM, at 61°, was better than that for most surgically treated patients. Ulnar length with nonsurgical treatment was predicted to be 64% of normal, but was not directly reported. Isolated soft-tissue release provided a modest reduction in hand-forearm angle compared with nonsurgical treatment. Soft-tissue distraction with centralization or radialization achieved the best hand-forearm angle correction (16° radial deviation). Radialization maintained better "wrist" active ROM (46°) and ulnar length than centralization. Microvascular second metatarsophalangeal joint transfer yielded better reported "wrist" active ROM (83°) and good ulnar length compared with other surgical techniques, but a slightly worse hand-forearm angle (28°). CONCLUSIONS: There was low-quality evidence that soft-tissue distraction plus centralization or radialization achieved the best correction of the hand-forearm angle for children with radial dysplasia. LEVEL OF EVIDENCE: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.
[Mh] Termos MeSH primário: Deformidades Congênitas da Mão/diagnóstico por imagem
Deformidades Congênitas da Mão/cirurgia
Procedimentos Ortopédicos/métodos
Rádio (Anatomia)/anormalidades
Procedimentos Cirúrgicos Reconstrutivos/métodos
Articulação do Punho/anormalidades
[Mh] Termos MeSH secundário: Fatores Etários
Feminino
Seres Humanos
Masculino
Rádio (Anatomia)/diagnóstico por imagem
Recuperação de Função Fisiológica
Medição de Risco
Resultado do Tratamento
Articulação do Punho/diagnóstico por imagem
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Em] Mês de entrada:1712
[Cu] Atualização por classe:180214
[Lr] Data última revisão:
180214
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171220
[St] Status:MEDLINE
[do] DOI:10.2106/JBJS.17.00164


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[PMID]:29381932
[Au] Autor:Xu Z; Li Y; Wang Z; Cai H
[Ad] Endereço:Department of Pediatric Orthopedics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
[Ti] Título:Open reduction combined with CORA-based osteotomy of the ulna in the treatment of missed Bado type I Monteggia injury: A retrospective study of 5 cases.
[So] Source:Medicine (Baltimore);96(47):e8609, 2017 Nov.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Open reduction combined with ulnar osteotomy is the most common approach to treating missed Monteggia injuries. The osteotomy is usually performed at the proximal ulna to ensure better healing and fewer complications. The purpose of this study is to present a center of rotation angulation (CORA)-based osteotomy of the ulna for treating Bado type I Monteggia injuries.We retrospectively reviewed the cases of patients who were treated with open reduction combined with a CORA-based ulnar osteotomy between February 2014 and December 2016. Each patient provided his or her internal control, and paired data of the involved and uninvolved sides were analyzed to evaluate forearm rotation function.Five patients (3 male, 2 female) with median age 5.7 years (range, 3.4-6.8 years) were operated on by the senior author in our hospital. The median interval between the original injury and the corrective surgery was 3 months (range, 1-4 months). In a median follow-up of 10 months (range, 6-17 months), all patients obtained stable reduction of the radial head and uneventful healing of the ulnar osteotomy. All patients had pain-free elbows with no neurological or vascular complications and no implant breakage. Patients showed excellent outcomes evaluated using the Broberg and Morrey index.Open reduction with a CORA-based osteotomy of the ulna for the treatment of missed Bado type I Monteggia injury with an obvious ulnar bowing deformity resulted in stable reduction of the radial head and excellent forearm function.
[Mh] Termos MeSH primário: Fratura de Monteggia/cirurgia
Redução Aberta
Osteotomia
Complicações Pós-Operatórias/prevenção & controle
Ulna
[Mh] Termos MeSH secundário: Artralgia/etiologia
Artralgia/prevenção & controle
Criança
Pré-Escolar
China
Articulação do Cotovelo/fisiopatologia
Feminino
Seres Humanos
Masculino
Fratura de Monteggia/diagnóstico
Doenças do Sistema Nervoso/etiologia
Doenças do Sistema Nervoso/prevenção & controle
Redução Aberta/instrumentação
Redução Aberta/métodos
Osteotomia/efeitos adversos
Osteotomia/métodos
Avaliação de Processos e Resultados (Cuidados de Saúde)
Radiografia/métodos
Rádio (Anatomia)/cirurgia
Recuperação de Função Fisiológica
Estudos Retrospectivos
Ulna/diagnóstico por imagem
Ulna/lesões
Ulna/fisiopatologia
Ulna/cirurgia
Doenças Vasculares/etiologia
Doenças Vasculares/prevenção & controle
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180208
[Lr] Data última revisão:
180208
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180201
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008609


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[PMID]:29201306
[Au] Autor:Kim HT; Can LV; Ahn TY; Kim IH
[Ad] Endereço:Department of Orthopaedic Surgery and Biomedical Research Institute, Pusan National University Hospital, Busan, Korea.
[Ti] Título:Analysis of Radiographic Parameters of the Forearm in Traumatic Radial Head Dislocation.
[So] Source:Clin Orthop Surg;9(4):521-528, 2017 Dec.
[Is] ISSN:2005-4408
[Cp] País de publicação:Korea (South)
[La] Idioma:eng
[Ab] Resumo:Background: Various deformities can occur in the forearm bones when the traumatically dislocated radial head is untreated for a long period. Without correction of all deformities, reduction of the dislocated radial head is difficult to maintain, and forearm and elbow motion will deteriorate after reduction. We evaluated radiographic parameters of forearms with traumatically dislocated radial heads (and of the normal sides) to understand the resulting deformities and the effectiveness of surgical treatment. Methods: We analyzed pre- and postoperative anteroposterior and lateral radiographs of 22 forearms (22 patients) with traumatic radial head dislocation. We divided the forearm into three equal parts and measured various morphological parameters. All patients underwent surgical treatment and evaluation of radial head reduction and range of motion pre- and postoperatively. Results: Before treatment, the middle of the ulna was significantly different from the unaffected side in both anteroposterior and lateral views. After surgery, the proximal ulna was significantly different from the unaffected side and the abnormal proximal radial neck angle persisted. The radial head was successfully reduced in 20 of 22 cases. Overall, the mean range of motion decreased after surgery, except for increased flexion-extension. Conclusions: Complicated deformities developing during long-term remodeling after injury indicate that stable reduction is difficult to achieve with conventional one-bone osteotomy. Even after successful reduction, secondary deformity in the proximal ulna and/or remaining deformity in the proximal radius can hinder forearm rotation.
[Mh] Termos MeSH primário: Articulação do Cotovelo/diagnóstico por imagem
Articulação do Cotovelo/lesões
Deformidades Articulares Adquiridas/diagnóstico por imagem
Luxações Articulares/diagnóstico por imagem
Rádio (Anatomia)/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Articulação do Cotovelo/fisiopatologia
Feminino
Antebraço/fisiopatologia
Seres Humanos
Deformidades Articulares Adquiridas/etiologia
Deformidades Articulares Adquiridas/fisiopatologia
Deformidades Articulares Adquiridas/cirurgia
Luxações Articulares/complicações
Luxações Articulares/cirurgia
Masculino
Período Pós-Operatório
Período Pré-Operatório
Pronação
Radiografia
Rádio (Anatomia)/cirurgia
Amplitude de Movimento Articular
Estudos Retrospectivos
Supinação
Ulna/diagnóstico por imagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180207
[Lr] Data última revisão:
180207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171205
[St] Status:MEDLINE
[do] DOI:10.4055/cios.2017.9.4.521


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[PMID]:29310416
[Au] Autor:Tomori Y; Sawaizumi T; Mitsuhiko N; Takai S
[Ti] Título:Medium-term outcome of closed radial wedge osteotomy of the distal radius for Preiser disease with concomitant Kienböck disease: Two case reports and a literature review.
[So] Source:Medicine (Baltimore);96(48):e9002, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Idiopathic avascular necrosis of the scaphoid or lunate bone are known as Preiser disease and Kienböck disease, respectively. Although there are reports of avascular necrosis involving more than one carpal bone, concurrent idiopathic avascular necrosis of the scaphoid and lunate bones is rare, with only five cases reported in the English literature (including the two herein). Although the optimum treatment for Preiser disease with concomitant Kienböck disease has not been established, our cases underwent closed radial wedge osteotomy based on the evidence of satisfactory outcomes for treating Kienböck disease. We report the medium-term results of closed radial wedge osteotomy of the distal radius in two cases of Preiser disease with concomitant Kienböck disease. PATIENT CONCERNS: We presented two patients with concomitant Preiser and Kienböck diseases. Although both smoked cigarettes, neither had any other risk factors; there was no history of trauma, although both women had jobs that required relatively heavy or repetitive manual labor. DIAGNOSES: Two patients were diagnosed by radiographs and magnetic resonance imaging of the wrists. INTERVENTIONS: A non-surgical strategy of splint immobilization and analgesia was not effective, and surgery was ultimately required. OUTCOMES: Satisfactory medium-term results were achieved with closed radial wedge osteotomy of the distal radius in both cases. Although there was imaging evidence of progression of dorsal intercalated segmental instability deformity, neither of the patients was symptomatic and both declined salvage surgery. LESSONS: We compare our cases and treatment strategy with others reported in the literature. Our cases suggest that closed radial wedge osteotomy of the distal radius is a safe and relatively straightforward means of treating patients with this rare combination of wrist disorders, and appears to obviate the need for more extensive salvage procedures.
[Mh] Termos MeSH primário: Osteonecrose/cirurgia
Osteotomia
Rádio (Anatomia)/cirurgia
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Meia-Idade
Osteonecrose/diagnóstico por imagem
Osteonecrose/tratamento farmacológico
Rádio (Anatomia)/diagnóstico por imagem
Contenções
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180116
[Lr] Data última revisão:
180116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180110
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000009002


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[PMID]:29212677
[Au] Autor:Laumonerie P; Reina N; Kerezoudis P; Declaux S; Tibbo ME; Bonnevialle N; Mansat P
[Ad] Endereço:Institut Locomoteur, Hôpital Pierre-Paul Riquet, Place du Dr Baylac, TSA 40 031, Toulouse 31059, France.
[Ti] Título:The minimum follow-up required for radial head arthroplasty: a meta-analysis.
[So] Source:Bone Joint J;99-B(12):1561-1570, 2017 Dec.
[Is] ISSN:2049-4408
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIMS: The primary aim of this study was to define the standard minimum follow-up required to produce a reliable estimate of the rate of re-operation after radial head arthroplasty (RHA). The secondary objective was to define the leading reasons for re-operation. MATERIALS AND METHODS: Four electronic databases, between January 2000 and March 2017 were searched. Articles reporting reasons for re-operation (Group I) and results (Group II) after RHA were included. In Group I, a meta-analysis was performed to obtain the standard minimum follow-up, the mean time to re-operation and the reason for failure. In Group II, the minimum follow-up for each study was compared with the standard minimum follow-up. RESULTS: A total of 40 studies were analysed: three were Group I and included 80 implants and 37 were Group II and included 1192 implants. In Group I, the mean time to re-operation was 1.37 years (0 to 11.25), the standard minimum follow-up was 3.25 years; painful loosening was the main indication for re-operation. In Group II, 33 Group II articles (89.2%) reported a minimum follow-up of < 3.25 years. CONCLUSION: The literature does not provide a reliable estimate of the rate of re-operation after RHA. The reproducibility of results would be improved by using a minimum follow-up of three years combined with a consensus of the definition of the reasons for failure after RHA. Cite this article: 2017;99-B:1561-70.
[Mh] Termos MeSH primário: Artroplastia/normas
Articulação do Cotovelo/cirurgia
Fraturas do Rádio/cirurgia
Rádio (Anatomia)/cirurgia
Reoperação/estatística & dados numéricos
[Mh] Termos MeSH secundário: Artroplastia/métodos
Articulação do Cotovelo/lesões
Seguimentos
Seres Humanos
Rádio (Anatomia)/lesões
Reprodutibilidade dos Testes
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171213
[Lr] Data última revisão:
171213
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171208
[St] Status:MEDLINE
[do] DOI:10.1302/0301-620X.99B12.BJJ-2017-0543.R2


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[PMID]:29080750
[Au] Autor:Mo D; Zhao Y; Balajee AS
[Ad] Endereço:Chinese Academy of Science, Beijing Institute of Genomics, Beijing CN 100029, China; University of Chinese Academy of Sciences, Beijing 100049, China.
[Ti] Título:Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
[So] Source:Cancer Lett;413:1-10, 2018 Jan 28.
[Is] ISSN:1872-7980
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:Human RecQ helicases that share homology with E. coli RecQ helicase play critical roles in diverse biological activities such as DNA replication, transcription, recombination and repair. Mutations in three of the five human RecQ helicases (RecQ1, WRN, BLM, RecQL4 and RecQ5) result in autosomal recessive syndromes characterized by accelerated aging symptoms and cancer incidence. Mutational inactivation of Werner (WRN) and Bloom (BLM) genes results in Werner syndrome (WS) and Bloom syndrome (BS) respectively. However, mutations in RecQL4 result in three human disorders: (I) Rothmund-Thomson syndrome (RTS), (II) RAPADILINO and (III) Baller-Gerold syndrome (BGS). Cells from WS, BS and RTS are characterized by a unique chromosomal anomaly indicating that each of the RecQ helicases performs specialized function(s) in a non-redundant manner. Elucidating the biological functions of RecQ helicases will enable us to understand not only the aging process but also to determine the cause for age-associated human diseases. Recent biochemical and molecular studies have given new insights into the multifaceted roles of RecQL4 that range from genomic stability to carcinogenesis and beyond. This review summarizes some of the existing and emerging knowledge on diverse biological functions of RecQL4 and its significance as a potential molecular target for cancer therapy.
[Mh] Termos MeSH primário: Canal Anal/anormalidades
Biomarcadores Tumorais/metabolismo
Transformação Celular Neoplásica/metabolismo
Craniossinostoses/enzimologia
Nanismo/enzimologia
Instabilidade Genômica
Comunicação Interatrial/enzimologia
Deformidades Congênitas dos Membros/enzimologia
Neoplasias/enzimologia
Patela/anormalidades
Rádio (Anatomia)/anormalidades
RecQ Helicases/metabolismo
Síndrome de Rothmund-Thomson/enzimologia
[Mh] Termos MeSH secundário: Canal Anal/enzimologia
Antineoplásicos/uso terapêutico
Biomarcadores Tumorais/antagonistas & inibidores
Biomarcadores Tumorais/genética
Proliferação Celular
Transformação Celular Neoplásica/genética
Transformação Celular Neoplásica/patologia
Craniossinostoses/genética
Reparo do DNA
Replicação do DNA
DNA Mitocondrial/genética
DNA Mitocondrial/metabolismo
Nanismo/genética
Inibidores Enzimáticos/uso terapêutico
Predisposição Genética para Doença
Comunicação Interatrial/genética
Seres Humanos
Deformidades Congênitas dos Membros/genética
Mutação
Neoplasias/tratamento farmacológico
Neoplasias/genética
Neoplasias/patologia
Patela/enzimologia
Fenótipo
Rádio (Anatomia)/enzimologia
RecQ Helicases/antagonistas & inibidores
RecQ Helicases/genética
Síndrome de Rothmund-Thomson/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Antineoplastic Agents); 0 (Biomarkers, Tumor); 0 (DNA, Mitochondrial); 0 (Enzyme Inhibitors); EC 3.6.1.- (RECQL4 protein, human); EC 3.6.4.12 (RecQ Helicases)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171204
[Lr] Data última revisão:
171204
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171030
[St] Status:MEDLINE


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[PMID]:28819519
[Au] Autor:El Kadi K; Benabid M; Saliou S; El Assil O; Marzouki A; Lahrach K; Boutayeb F
[Ad] Endereço:Department of Orthopedic Surgery (A), UH Hassan II, Fes, Morocco.
[Ti] Título:Simultaneous ipsilateral fractures of distal and proximal ends of the radius.
[So] Source:Pan Afr Med J;27:98, 2017.
[Is] ISSN:1937-8688
[Cp] País de publicação:Uganda
[La] Idioma:eng
[Ab] Resumo:We treated a patient with a rare combination of ipsilateral fractures of the distal and proximal ends of the radius. A man aged 42 years had simultaneous fractures of the distal and proximal ends of the radius (radial neck) following a roadside accident. The distal end fracture of the radius was treated with surgical reduction and T-plate volar fixation, and the undisplaced radial neck fracture was treated by an above elbow splintage for 2 weeks. The elbow mobilization was started at 2 weeks. The distal radius was protected for another 4 weeks in a below elbow functional brace. Ipsilateral proximal and distal radial fracture is an uncommon injury pattern. The series illustrates a number of problems associated with this combination. Firstly, one should be aware of this rare injury pattern and there should be greater emphasis on clinical examination of elbow in cases of wrist injuries and vice versa. Once diagnosed, one faces the dilemma of appropriate management in these cases. The appropriate management will depend on the injury characteristics including the age of the patient and the fracture pattern. One should try to preserve the radial head to prevent a possible proximal radial migration especially in younger patients.
[Mh] Termos MeSH primário: Fixação Interna de Fraturas/métodos
Fraturas do Rádio/patologia
Rádio (Anatomia)/lesões
[Mh] Termos MeSH secundário: Acidentes de Trânsito
Adulto
Braquetes
Articulação do Cotovelo
Seres Humanos
Masculino
Fraturas do Rádio/cirurgia
Contenções
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170904
[Lr] Data última revisão:
170904
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170819
[St] Status:MEDLINE
[do] DOI:10.11604/pamj.2017.27.98.3504



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