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[PMID]:28328141
[Au] Autor:Kohmoto T; Naruto T; Watanabe M; Fujita Y; Ujiro S; Okamoto N; Horikawa H; Masuda K; Imoto I
[Ad] Endereço:Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
[Ti] Título:A 590 kb deletion caused by non-allelic homologous recombination between two LINE-1 elements in a patient with mesomelia-synostosis syndrome.
[So] Source:Am J Med Genet A;173(4):1082-1086, 2017 Apr.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mesomelia-synostoses syndrome (MSS) is a rare, autosomal-dominant, syndromal osteochondrodysplasia characterized by mesomelic limb shortening, acral synostoses, and multiple congenital malformations due to a non-recurrent deletion at 8q13 that always encompasses two coding-genes, SULF1 and SLCO5A1. To date, five unrelated patients have been reported worldwide, and MMS was previously proposed to not be a genomic disorder associated with deletions recurring from non-allelic homologous recombination (NAHR) in at least two analyzed cases. We conducted targeted gene panel sequencing and subsequent array-based copy number analysis in an 11-year-old undiagnosed Japanese female patient with multiple congenital anomalies that included mesomelic limb shortening and detected a novel 590 Kb deletion at 8q13 encompassing the same gene set as reported previously, resulting in the diagnosis of MSS. Breakpoint sequences of the deleted region in our case demonstrated the first LINE-1s (L1s)-mediated unequal NAHR event utilizing two distant L1 elements as homology substrates in this disease, which may represent a novel causative mechanism of the 8q13 deletion, expanding the range of mechanisms involved in the chromosomal rearrangements responsible for MSS.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Sequência de Bases
Cromossomos Humanos Par 8/química
Recombinação Homóloga
Deformidades Congênitas dos Membros/genética
Elementos Nucleotídeos Longos e Dispersos
Deleção de Sequência
Sinostose/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/diagnóstico
Anormalidades Múltiplas/etnologia
Anormalidades Múltiplas/patologia
Grupo com Ancestrais do Continente Asiático
Criança
Variações do Número de Cópias de DNA
Feminino
Genes Dominantes
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Deformidades Congênitas dos Membros/diagnóstico
Deformidades Congênitas dos Membros/etnologia
Deformidades Congênitas dos Membros/patologia
Transportadores de Ânions Orgânicos/deficiência
Transportadores de Ânions Orgânicos/genética
Sulfotransferases/deficiência
Sulfotransferases/genética
Sinostose/diagnóstico
Sinostose/etnologia
Sinostose/patologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Organic Anion Transporters); 0 (SLCO5A1 protein, human); EC 2.8.2.- (SULF1 protein, human); EC 2.8.2.- (Sulfotransferases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171030
[Lr] Data última revisão:
171030
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170323
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38122


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[PMID]:28323804
[Au] Autor:Bosse MJ; Morshed S; Reider L; Ertl W; Toledano J; Firoozabadi R; Seymour RB; Carroll E; Scharfstein DO; Steverson B; MacKenzie EJ; METRC
[Ad] Endereço:*Orthopaedic Trauma Service, Department of Orthopaedic Surgery, Carolinas Medical Center, Charlotte, NC; †Orthopaedic Trauma Institute, Zuckerberg San Francisco General Hospital, University of San Francisco; ‡Department of Health Policy and Management, Johns Hopkins Bloomberg School of Public Health; §Department of Orthopaedic Surgery and Rehabilitation, University of Oklahoma; ‖Department of Orthopaedic Surgery, Naval Medical Center San Diego; ¶Harborview Medical Center, University of Washington; **Department of Orthopaedic Surgery, Wake Forest Baptist Health; ††Department of Biostatistics, Johns Hopkins Bloomberg School of Public Health; and ‡‡Orthopaedic Trauma Service, Tampa General Hospital, Florida Orthopaedic Institute.
[Ti] Título:Transtibial Amputation Outcomes Study (TAOS): Comparing Transtibial Amputation With and Without a Tibiofibular Synostosis (Ertl) Procedure.
[So] Source:J Orthop Trauma;31 Suppl 1:S63-S69, 2017 Apr.
[Is] ISSN:1531-2291
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The optimal technique for a transtibial amputation in a young, active, and healthy patient is controversial. Proponents of the Ertl procedure (in which the cut ends of the tibia and fibula are joined with a bone bridge synostosis) argue that the residual limb is more stable which confers better prosthetic fit and improved function especially among high-performing individuals. At the same time, the Ertl procedure is associated with longer operative and healing time and may be associated with a higher complication rate compared with the standard Burgess procedure. The TAOS is a prospective, multicenter randomized trial comparing 18-month outcomes after transtibial amputation using the Ertl versus Burgess approach among adults aged 18 to 60. The primary outcomes include surgical treatment for a complication and patient-reported function. Secondary outcomes include physical impairment, pain, and treatment cost.
[Mh] Termos MeSH primário: Amputação/métodos
Articulação do Tornozelo/cirurgia
Traumatismos da Perna/cirurgia
Sinostose/cirurgia
Tíbia/cirurgia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Terapia Combinada/métodos
Feminino
Seres Humanos
Traumatismos da Perna/diagnóstico
Masculino
Meia-Idade
Estudos Prospectivos
Sinostose/diagnóstico
Resultado do Tratamento
Estados Unidos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY; RANDOMIZED CONTROLLED TRIAL
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170322
[St] Status:MEDLINE
[do] DOI:10.1097/BOT.0000000000000791


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[PMID]:28291436
[Au] Autor:Yörükoglu AÇ; Demirkan AF; Akman A; Kitis A; Usta H
[Ad] Endereço:Department of Orthopedics and Traumatology, Medical Faculty of Pamukkale University, 20160 Kinikli, Denizli, Turkey. fahirdemirkan@yahoo.com.
[Ti] Título:The effects of radial bowing and complications in intramedullary nail fixation of adult forearm fractures.
[So] Source:Eklem Hastalik Cerrahisi;28(1):30-4, 2017 Apr.
[Is] ISSN:1309-0313
[Cp] País de publicação:Turkey
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: This study aims to evaluate the effects of radial bowing changes on fracture healing and functional results in adult forearm intramedullary nail applications and complications of forearm nails that have been discussed rarely in the literature. PATIENTS AND METHODS: Twenty-three patients -11 with isolated radius and 12 with both radius and ulna fractures- (17 males, 6 females; mean age 38.6 years; range 18 to 69 years) who were operated between September 2009 and August 2014 were included in the study. The effects of radial bowing changes on bone healing rates, time to union, and functional levels of the forearm as well as complications of forearm nails were evaluated. RESULTS: We observed fracture healing without any complication in 20 patients (86.9%) and nonunion in three patients (13.1%) although six months had passed after the operation. Statistically significant difference was detected between radial bowing change and nonunion (p=0.01). Two patients (8.6%) with AO/OTA Classification (The Arbeitsgemeinschaft für Osteosynthesefragen [AO]/Orthopaedic Trauma Association [OTA] Classification), type B3 forearm double fractures had synostosis. Extensor pollicis longus tendon rupture or impingement was detected in six patients (26.8%) for which nails were applied on radius fracture. CONCLUSION: Intramedullary nail application may be an appropriate treatment alternative in forearm fractures with their high healing rates; however, synostosis may arise with its use in wedge fractures (AO/OTA type B3) at the same level. Although radial bowing changes do not have a significant effect on ranges of motion of the forearm, it should be kept in mind that fracture healing may be affected adversely in patients with radial bowing changes of high rates. Complications regarding extensor pollicis longus tendon may develop during intra- or postoperative periods in patients for which a radius nail has been applied.
[Mh] Termos MeSH primário: Pinos Ortopédicos/efeitos adversos
Fixação Intramedular de Fraturas/efeitos adversos
Fraturas do Rádio/cirurgia
Rádio (Anatomia)/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Feminino
Antebraço
Fixação Intramedular de Fraturas/métodos
Consolidação da Fratura
Fraturas não Consolidadas/diagnóstico por imagem
Fraturas não Consolidadas/etiologia
Seres Humanos
Masculino
Meia-Idade
Rádio (Anatomia)/patologia
Fraturas do Rádio/diagnóstico por imagem
Estudos Retrospectivos
Sinostose/diagnóstico por imagem
Sinostose/etiologia
Resultado do Tratamento
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170615
[Lr] Data última revisão:
170615
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170315
[St] Status:MEDLINE


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[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


  5 / 1128 MEDLINE  
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[PMID]:28145000
[Au] Autor:Yang CF; Wang CH; Siong H'ng W; Chang CP; Lin WD; Chen YT; Wu JY; Tsai FJ
[Ad] Endereço:Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.
[Ti] Título:Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies.
[So] Source:Hum Mutat;38(5):540-547, 2017 May.
[Is] ISSN:1098-1004
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Spondylocarpotarsal synostosis syndrome (SCT) is a distinct group of disorders characterized by short stature, disrupted vertebral segmentation with vertebral fusion, scoliosis, lordosis, carpal/tarsal synostosis, and lack of rib anomalies. Mutations in filamin B (FLNB) and MYH3 have been reported for autosomal-recessive and autosomal-dominant SCT, respectively. We present a family with two patients suffering from autosomal-recessive SCT with rib anomalies, including malalignment, crowding, and uneven size and shape of ribs. Whole-exome sequencing revealed a novel p.S2542Lfs 82 (c.7621dup) frameshift mutation in FLNB. This frameshift mutation lies in the C-terminal-most domain involved in FLNB dimerization and resulted in a 20-residue elongation, with complete familial segregation and absence in 376 normal controls. The mutant p.S2542Lfs 82 FLNB demonstrated a complete loss of ability to form a functional dimer in transiently transfected HEK293T cells. The p.S2542Lfs 82 mutation also led to significantly reduced protein levels and accumulation of the mutant protein in the Golgi apparatus. This is the first identified mutation in the dimerization domain of FLNB. This loss-of-function frameshift mutation in FLNB causes autosomal-recessive SCT with rarely reported rib anomalies. This report demonstrates the involvement of rib anomaly in SCT and its causative mutation in the dimerization domain of FLNB.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/diagnóstico
Anormalidades Múltiplas/genética
Filaminas/genética
Genes Recessivos
Vértebras Lombares/anormalidades
Doenças Musculoesqueléticas/diagnóstico
Doenças Musculoesqueléticas/genética
Mutação
Fenótipo
Domínios e Motivos de Interação entre Proteínas/genética
Multimerização Proteica/genética
Escoliose/congênito
Sinostose/diagnóstico
Sinostose/genética
Vértebras Torácicas/anormalidades
[Mh] Termos MeSH secundário: Actinas/metabolismo
Adulto
Substituição de Aminoácidos
Análise Mutacional de DNA
Feminino
Filaminas/química
Filaminas/metabolismo
Complexo de Golgi/metabolismo
Homozigoto
Seres Humanos
Linhagem
Estabilidade Proteica
Escoliose/diagnóstico
Escoliose/genética
Tomografia Computadorizada por Raios X
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Actins); 0 (Filamins)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170629
[Lr] Data última revisão:
170629
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170202
[St] Status:MEDLINE
[do] DOI:10.1002/humu.23186


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[PMID]:28104092
[Au] Autor:Costopoulos CL; Abboud JA; Ramsey ML; Getz CL; Sholder DS; Taras JP; Huttman D; Lazarus MD
[Ad] Endereço:Department of Orthopedics, Philadelphia College of Osteopathic Medicine, Philadelphia, PA, USA. Electronic address: callista.costopoulos@gmail.com.
[Ti] Título:The use of indomethacin in the prevention of postoperative radioulnar synostosis after distal biceps repair.
[So] Source:J Shoulder Elbow Surg;26(2):295-298, 2017 Feb.
[Is] ISSN:1532-6500
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: This study evaluated the incidence of symptomatic radioulnar synostosis/heterotopic ossification after distal biceps tendon repair in patients receiving indomethacin prophylaxis. We hypothesized that indomethacin use postoperatively would decrease the occurrence of symptomatic synostosis. METHODS: A single-center retrospective record review identified 124 patients undergoing distal biceps repair between 2011 and 2014. Patients were analyzed for administration of indomethacin, contraindications to administration, age, time to surgery, fixation method, medical comorbidities, and development of symptomatic synostosis. Oral indomethacin (75 mg, once daily) was prescribed postoperatively for 10 to 42 days per each attendings' protocol. RESULTS: After analysis, 112 patients met the inclusion criteria, with 7 undergoing a 1-incision distal biceps repair and 105 undergoing a 2-incision repair. Of those, 104 received indomethacin postoperatively, with a synostosis rate of 0.96% compared with 37.50% for the untreated group (P < .001). No statistically significant difference was found between fixation methods and synostosis. One patient with synostosis was a single-incision repair, and 3 were 2-incision suture bridge repairs. Three patients with synostosis had relative contraindications to administration of indomethacin, including concomitant warfarin use, clopidogrel use, and ulcerative colitis. CONCLUSION: Indomethacin use after distal biceps repair was associated with a statistically significant reduction in the rate of symptomatic radioulnar synostosis and did not have any associated adverse effects, including gastrointestinal bleeding or rerupture, despite prolonged use of up to 6 weeks. This study represents the largest study to report the outcomes of patients undergoing distal biceps repair with concomitant synostosis prophylaxis using indomethacin.
[Mh] Termos MeSH primário: Anti-Inflamatórios não Esteroides/uso terapêutico
Traumatismos do Braço/cirurgia
Tendões dos Isquiotibiais/lesões
Indometacina/uso terapêutico
Rádio (Anatomia)/anormalidades
Sinostose/prevenção & controle
Traumatismos dos Tendões/cirurgia
Ulna/anormalidades
[Mh] Termos MeSH secundário: Anti-Inflamatórios não Esteroides/administração & dosagem
Estudos de Coortes
Feminino
Tendões dos Isquiotibiais/cirurgia
Seres Humanos
Indometacina/administração & dosagem
Masculino
Meia-Idade
Complicações Pós-Operatórias/prevenção & controle
Estudos Retrospectivos
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Anti-Inflammatory Agents, Non-Steroidal); XXE1CET956 (Indomethacin)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170121
[St] Status:MEDLINE


  7 / 1128 MEDLINE  
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[PMID]:27354228
[Au] Autor:Brioschi V; Langley-Hobbs SJ; Kerwin S; Meeson R; Radke H
[Ad] Endereço:1 Department of Veterinary Medicine, University of Cambridge, Cambridge, UK.
[Ti] Título:Combined physeal fractures of the distal radius and ulna: complications associated with K-wire fixation and long-term prognosis in six cats.
[So] Source:J Feline Med Surg;19(8):907-914, 2017 Aug.
[Is] ISSN:1532-2750
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Objectives The objective was to describe the complications and long-term outcome associated with Kirschner (K)-wire fixation of combined distal radial and ulnar physeal fractures in six cats. Methods Medical records (2002-2014) of six referral institutions were searched for cats with combined distal radial and ulnar physeal fractures. Cases with complete clinical files, radiographs and surgical records were retrospectively reviewed. Long-term outcome was assessed via telephone interviews using an owner questionnaire. Results Complete files were available for 6/9 identified cases (cases 1-6). All fractures were classified as Salter-Harris type I or II. Five cases underwent open reduction and internal fixation via cross-pinning of the distal radius and intramedullary pinning of the ulna (cases 1-3); fixation of the distal radial and ulnar physes with one K-wire each (case 4); and K-wire fixation of the radial physis in combination with two transulnoradial K-wires (case 5). One case underwent closed reduction and percutaneous cross-pinning of the distal radius under fluoroscopic guidance (case 6). The complications encountered were: reduced radiocarpal range of motion (ROM) (cases 1, 3, 4, 5); implant loosening/migration (cases 1, 2, 5); and radioulnar synostosis (case 4). None of the cats developed angular limb deformity. Long-term outcome (12 months to 7 years after surgery) was graded as 'excellent' by the owners in all cases. Conclusions and relevance Prognosis is favourable for feline combined distal radial and ulnar physeal fractures following K-wire fixation in cats over 7 months of age. Implant removal after bony union is recommended to minimise reduction in ROM and to prevent implant loosening/migration.
[Mh] Termos MeSH primário: Fios Ortopédicos/veterinária
Gatos/lesões
Fixação Interna de Fraturas/veterinária
Fraturas do Rádio/veterinária
Fraturas da Ulna/veterinária
[Mh] Termos MeSH secundário: Animais
Gatos/cirurgia
Feminino
Escala de Gravidade do Ferimento
Masculino
Prognóstico
Rádio (Anatomia)/anormalidades
Fraturas do Rádio/complicações
Fraturas do Rádio/diagnóstico por imagem
Fraturas do Rádio/cirurgia
Sinostose
Resultado do Tratamento
Ulna/anormalidades
Fraturas da Ulna/complicações
Fraturas da Ulna/diagnóstico por imagem
Fraturas da Ulna/cirurgia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171018
[Lr] Data última revisão:
171018
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160630
[St] Status:MEDLINE
[do] DOI:10.1177/1098612X16653644


  8 / 1128 MEDLINE  
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[PMID]:27654158
[Au] Autor:Barry KS; Lewis DD; Porter EG
[Ti] Título:What Is Your Diagnosis?
[So] Source:J Am Vet Med Assoc;249(7):743-5, 2016 Oct 01.
[Is] ISSN:1943-569X
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Doenças do Cão/diagnóstico
Fraturas Mandibulares/veterinária
Sinostose/veterinária
[Mh] Termos MeSH secundário: Animais
Transtornos de Deglutição/etiologia
Transtornos de Deglutição/veterinária
Diagnóstico Diferencial
Doenças do Cão/diagnóstico por imagem
Doenças do Cão/cirurgia
Cães
Masculino
Fraturas Mandibulares/diagnóstico
Fraturas Mandibulares/diagnóstico por imagem
Traumatismo Múltiplo/diagnóstico
Traumatismo Múltiplo/diagnóstico por imagem
Traumatismo Múltiplo/veterinária
Sinostose/diagnóstico
Sinostose/diagnóstico por imagem
Tomografia Computadorizada por Raios X/veterinária
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160923
[St] Status:MEDLINE
[do] DOI:10.2460/javma.249.7.743


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[PMID]:27645618
[Au] Autor:Marvan J; Dzupa V; Krbec M; Skala-Rosenbaum J; Bartoska R; Kachlik D; Baca V
[Ad] Endereço:Department of Orthopaedics and Traumatology, Third Faculty of Medicine, Charles University and FNKV, Prague, Czech Republic.
[Ti] Título:Distal tibiofibular synostosis after surgically resolved ankle fractures: An epidemiological, clinical and morphological evaluation of a patient sample.
[So] Source:Injury;47(11):2570-2574, 2016 Nov.
[Is] ISSN:1879-0267
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:INTRODUCTION: Ankle fractures comprise a highly morphologically and etiologically diverse group of injuries, which includes various degrees of impairment of bone and ligamentous structures. The complete synostosis and incomplete bony bridging of tibiofibular syndesmosis are among the local late complications after surgically treated ankle fractures. PATIENTS AND METHOD: 269 patients were evaluated, including 203 patients with Weber type-B fractures, and 66 patients with Weber type-C fractures. All patients underwent ankle radiography at standard intervals (post-operatively, 6 and 12 weeks, 6 and 12 months). The final assessment one year after osteosynthesis was performed. The study analyzed age, sex, fracture morphology, the location and morphology of ossification, functional outcomes and subjective evaluations of patient status. RESULTS: As risk factors there were found male sex, tibiotalar dislocation, syndesmotic screw fixation and Weber type-C fractures. The severity of subjective difficulties and objective status were not dependent on the size of distal tibiofibular synostosis. DISCUSSION AND CONCLUSION: Despite relatively extensive imaging findings of complete synostosis or incomplete bony bridging, they only limited functional outcomes to a minimal extent.
[Mh] Termos MeSH primário: Fraturas do Tornozelo/complicações
Fixação Interna de Fraturas/efeitos adversos
Complicações Pós-Operatórias/etiologia
Sinostose/etiologia
[Mh] Termos MeSH secundário: Adulto
Fraturas do Tornozelo/epidemiologia
Fraturas do Tornozelo/patologia
Fraturas do Tornozelo/cirurgia
Parafusos Ósseos
República Tcheca/epidemiologia
Feminino
Fixação Interna de Fraturas/métodos
Seres Humanos
Masculino
Meia-Idade
Complicações Pós-Operatórias/diagnóstico
Complicações Pós-Operatórias/epidemiologia
Estudos Retrospectivos
Fatores de Risco
Fatores Sexuais
Sinostose/diagnóstico
Sinostose/epidemiologia
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170907
[Lr] Data última revisão:
170907
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160921
[St] Status:MEDLINE


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[PMID]:27638328
[Au] Autor:Mutlu MB; Cetinkaya A; Koc N; Ceylaner G; Erguner B; Aydin H; Karaman S; Demirci O; Goksu K; Karaman A
[Ad] Endereço:Medical Genetics Unit, Zeynep Kamil Women's and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
[Ti] Título:A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.
[So] Source:Eur J Med Genet;59(11):604-606, 2016 Nov.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Al-Awadi-Raas-Rothschild syndrome (AARRS) is a rare autosomal recessive disorder which consists of severe malformations of the upper and lower limbs, abnormal genitalia and underdeveloped pelvis. Here, we present a fetus with severe limbs defects, including bilateral humeroradial synostosis, bilateral oligodactyly in hands, underdeveloped pelvis, short femora and tibiae, absence of fibulae, severely small feet, and absence of uterus. An autosomal recessively inherited novel mutation in WNT7A found in the fetus, c.304C > T, affects an evolutionarily well-conserved amino acid, causing the p.(R102W) missense change at protein level. The findings presented in this fetus are compatible with diagnosis of AARRS, expanding the mutational spectrum of limb malformations arising from defects in WNT7A.
[Mh] Termos MeSH primário: Amenorreia/genética
Ectromelia/genética
Extremidades/fisiopatologia
Ossos Pélvicos/anormalidades
Útero/anormalidades
Proteínas Wnt/genética
[Mh] Termos MeSH secundário: Amenorreia/fisiopatologia
Ectromelia/fisiopatologia
Feminino
Feto/fisiopatologia
Seres Humanos
Mutação de Sentido Incorreto
Ossos Pélvicos/fisiopatologia
Polidactilia/genética
Polidactilia/fisiopatologia
Gravidez
Sinostose/genética
Sinostose/fisiopatologia
Útero/fisiopatologia
[Pt] Tipo de publicação:CASE REPORTS; LETTER
[Nm] Nome de substância:
0 (WNT7A protein, human); 0 (Wnt Proteins)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170207
[Lr] Data última revisão:
170207
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160918
[St] Status:MEDLINE



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