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  1 / 2991 MEDLINE  
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[PMID]:28451697
[Au] Autor:Deltombe T; Wautier D; De Cloedt P; Fostier M; Gustin T
[Ad] Endereço:Physical Medicine and Rehabilitation Department, Université catholique de Louvain, Cliniques universitaires de Mont-Godinne, , BE-5530 Yvoir, Belgium. thierry.deltombe@uclouvain.be.
[Ti] Título:Assessment and treatment of spastic equinovarus foot after stroke: Guidance from the Mont-Godinne interdisciplinary group.
[So] Source:J Rehabil Med;49(6):461-468, 2017 Jun 28.
[Is] ISSN:1651-2081
[Cp] País de publicação:Sweden
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To present interdisciplinary practical guidance for the assessment and treatment of spastic equinovarus foot after stroke. RESULTS: Clinical examination and diagnostic nerve block with anaesthetics determine the relative role of the factors leading to spastic equinovarus foot after stroke: calf spasticity, triceps surae - Achilles tendon complex shortening and dorsiflexor muscles weakness and/or imbalance. Diagnostic nerve block is a mandatory step in determining the cause(s) of, and the most appropriate treatment(s) for, spastic equinovarus foot. Based on interdisciplinary discussion, and according to a patient-oriented goal approach, a medical and/or surgical treatment plan is proposed in association with a rehabilitation programme. Spasticity is treated with botulinum toxin or phenol-alcohol chemodenervation and neurotomy, shortening is treated by stretching and muscle-tendon lengthening, and weakness is treated by ankle-foot orthosis, functional electrical stimulation and tendon transfer. These treatments are frequently combined. CONCLUSION: Based on 20 years of interdisciplinary expertise of management of the spastic foot, guidance was established to clarify a complex problem in order to help clinicians treat spastic equinovarus foot. This work should be the first step in a more global international consensus.
[Mh] Termos MeSH primário: Pé Torto Equinovaro/etiologia
Pé Torto Equinovaro/terapia
Espasticidade Muscular/etiologia
Espasticidade Muscular/terapia
Acidente Vascular Cerebral/complicações
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Masculino
Acidente Vascular Cerebral/patologia
[Pt] Tipo de publicação: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:170429
[St] Status:MEDLINE
[do] DOI:10.2340/16501977-2226


  2 / 2991 MEDLINE  
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[PMID]:29267350
[Au] Autor:Smythe T; Wainwright A; Foster A; Lavy C
[Ad] Endereço:International Centre for Evidence in Disability, London School of Hygiene and Tropical Medicine, London, United Kingdom.
[Ti] Título:What is a good result after clubfoot treatment? A Delphi-based consensus on success by regional clubfoot trainers from across Africa.
[So] Source:PLoS One;12(12):e0190056, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Congenital talipes equino-varus (CTEV), also known as clubfoot, is one of the most common congenital musculoskeletal malformations. Despite this, considerable variation exists in the measurement of deformity correction and outcome evaluation. This study aims to determine the criteria for successful clubfoot correction using the Ponseti technique in low resource settings through Africa. METHODS: Using the Delphi method, 18 experienced clubfoot practitioners and trainers from ten countries in Africa ranked the importance of 22 criteria to define an 'acceptable or good clubfoot correction' at the end of bracing with the Ponseti technique. A 10cm visual analogue scale was used. They repeated the rating with the results of the mean scores and standard deviation of the first test provided. The consistency among trainers was determined with the intra-class correlation coefficient (ICC). From the original 22 criteria, ten criteria with a mean score >7 and SD <2 were identified and were rated through a second Delphi round by 17 different clubfoot treatment trainers from 11 countries in Africa. The final definition consisted of all statements that achieved strong agreement, a mean score of >9 and SD<1.5. RESULTS: The consensus definition of a successfully treated clubfoot includes: (1) a plantigrade foot, (2) the ability to wear a normal shoe, (3) no pain, and (4) the parent is satisfied. Participants demonstrated good consistency in rating these final criteria (ICC 0.88; 0.74,0.97). CONCLUSIONS: The consistency of Ponseti technique trainers from Africa in rating criteria for a successful outcome of clubfoot management was good. The consensus definition includes basic physical assessment, footwear use, pain and parent satisfaction.
[Mh] Termos MeSH primário: Pé Torto Equinovaro/terapia
Procedimentos Ortopédicos/métodos
Resultado do Tratamento
[Mh] Termos MeSH secundário: África
Consenso
Técnica Delfos
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[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:171222
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190056


  3 / 2991 MEDLINE  
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[PMID]:29182130
[Au] Autor:Anshuman R; Singh M; Jain BK; Verma N; Arora R
[Ti] Título:Correlation of Pirani score and Foot bimalleolar angle in the treatment of idiopathic congenital talipes equino varus by Ponseti method in infants.
[So] Source:Acta Orthop Belg;82(4):861-865, 2016 Dec.
[Is] ISSN:0001-6462
[Cp] País de publicação:Belgium
[La] Idioma:eng
[Ab] Resumo:AIM: Correlation of Pirani score and Foot bimalleolar (FBM) angle in the treatment of idiopathic congenital talipes equino varus (CTEV) by Ponseti method in infants. MATERIAL AND METHODS: 35 feet with idiopathic CTEV deformity <1 year were prospectively treated by Ponseti method. Deformity evaluated each successive week of treatment by Pirani score and FBM angle. Feet were divided according to Pirani score in groups : one(0-2.0), two(2.5-4) and three(4.5-6). Correlation between mean Pirani score and mean FBM angle was evaluated every week and at follow up, firstly by using Pearson's and Spearman's correlation and then, after dividing data in groups by using ANOVA. RESULTS: Correlation between Pirani score and FBM angle was statistically significant(p value <0.05). CONCLUSION: Pirani score decreases and FBM angle increases with correction. Pirani score and FBM angle correlated in severity of deformity and correction achieved, thus FBM angle provides objective evidence of clubfoot deformity/improvement/deterioration.
[Mh] Termos MeSH primário: Moldes Cirúrgicos
Pé Torto Equinovaro/cirurgia
Tenotomia
[Mh] Termos MeSH secundário: Pé Torto Equinovaro/patologia
Feminino
Seres Humanos
Lactente
Masculino
Procedimentos Ortopédicos
Estudos Prospectivos
Índice de Gravidade de Doença
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171228
[Lr] Data última revisão:
171228
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171129
[St] Status:MEDLINE


  4 / 2991 MEDLINE  
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[PMID]:29182109
[Au] Autor:Dar RA; Rashid M; Bhat MR; Yaseen M; Ashraf A; Kawoosa AA
[Ti] Título:Factors affecting outcome after the use of the Ponseti method for the management of idiopathic clubfoot, a retrospective study in an orthopaedic referral institute.
[So] Source:Acta Orthop Belg;82(4):705-709, 2016 Dev.
[Is] ISSN:0001-6462
[Cp] País de publicação:Belgium
[La] Idioma:eng
[Ab] Resumo:TIn the last few decades Ponseti method has replaced soft tissue releases as the gold standard in the management of idiopathic clubfoot. However, the recurrence of the deformity is common without post tenotomy bracing. The purpose of this study was to retrospectively see various attributes of the patients associated with poor outcome after use of Ponseti method in idiopathic clubfoot management. Seventy nine consecutive patients with one hundred and twenty three idiopathic clubfeet treated with Ponseti method by single orthopaedic surgeon were followed for a period of two years and recurrence of the deformity was studied in relation to age of patient at presentation (< 3 months or more), sex of the patient, severity of the deformity ( moderate to severe verses (Vs.) very severe), compliance to post tenotomy bracing (compliant Vs. non compliant), educational level of parents (high school or less) and access of parents to internet (Yes or No) and odds ratio for recurrence and level of significance determined for each using Fisher's exact t-test. Non compliance in seventeen patients (17.7%) with post tenotomy bracing was the most important factor related to the recurrence, with an odds ratio of 6.22 (P =0.0059). Educational level (less than high school) of parents (36.7%) was the second most important factor with odds ratio of 5.5 (P=0.0073). Fifteen patients with severe Demiglio scoring feet had an odds ratio of 5.3 (P= 0.0097) for the recurrence of the deformity. Inaccess of the parents to the internet had an odds ratio of 6.33 (P =0.011) for the recurrence of the deformity. Age and sex of the patients was not found to have a significant effect on the recurrence of the deformity. In conclusion, the risk factors associated with recurrence of the idiopathic clubfoot deformity except severity of the deformity are modifiable and extra minutes can be spent with risk group parents during follow up visits to prevent a recurrence by making them understand natural history of the corrected foot without post tenotomy bracing, encouraging them for regular follow up visits, arranging interactive sessions with other patients who are regular in their follow up and compliant with bracing, and encouraging the literate parents to update their information about clubfoot from internet.
[Mh] Termos MeSH primário: Braquetes
Pé Torto Equinovaro/cirurgia
Cuidados Pós-Operatórios/métodos
Tenotomia/métodos
[Mh] Termos MeSH secundário: Proteínas de Drosophila
Escolaridade
Feminino
Seguimentos
Seres Humanos
Imobilização
Lactente
Internet
Masculino
Proteínas de Membrana
Razão de Chances
Cooperação do Paciente
Recidiva
Estudos Retrospectivos
Fatores de Risco
Índice de Gravidade de Doença
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Drosophila Proteins); 0 (Membrane Proteins); 0 (expanded protein, Drosophila)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171228
[Lr] Data última revisão:
171228
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171129
[St] Status:MEDLINE


  5 / 2991 MEDLINE  
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[PMID]:28858119
[Au] Autor:Shirai Y; Wakabayashi K; Wada I; Tsuboi Y; Ha M; Otsuka T
[Ad] Endereço:aDepartment of Orthopaedic Surgery bDepartment of Rehabilitation Medicine, Nagoya City University Graduate School of Medicine, Nagoya, Aichi, Japan.
[Ti] Título:Flatfoot in the contralateral foot in patients with unilateral idiopathic clubfoot treated using the foot abduction brace.
[So] Source:Medicine (Baltimore);96(35):e7937, 2017 Sep.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:While the foot abduction brace (FAB) plays an important role in the Ponseti method, the true function of the FAB in the treatment of idiopathic clubfoot remains unknown. In our clinical experience, we have noted that many patients with unilateral idiopathic clubfoot developed significant flatfoot in the contralateral foot during brace treatment. The purpose of this study was to investigate the natural history of the contralateral foot development during and after brace wear. We also discuss the effect of the FAB on the contralateral foot.We retrospectively reviewed 21 contralateral feet of 21 patients with unilateral idiopathic clubfoot who were treated using the Ponseti method and were conservatively followed up until the FAB was taken off (6 years of age or older). We evaluated flatfoot indicators of the contralateral foot on standing radiographs during and after brace wear and compared them against the normal reference ranges. We also evaluated the changes in the flatfoot indicators of the contralateral foot during and after brace wear.Although there was a significant difference in the flatfoot indicators between the contralateral foot and normal reference ranges during brace wear, there was no significant difference in the flatfoot indicators after brace wear. While there was no significant improvement in flatfoot indicators of the contralateral foot during brace wear, there was a significant improvement or a trend to improve after brace wear. There was no significant correlation between the contralateral flatfoot and original joint laxity.Significant flatfoot deformity was observed in the contralateral foot during brace wear. The contralateral flatfoot persisted during brace wear and improved to within normal reference ranges after brace wear. Our findings suggest that the FAB may influence the development of the contralateral foot, leading to the flatfoot.
[Mh] Termos MeSH primário: Braquetes/efeitos adversos
Pé Torto Equinovaro/terapia
Pé Chato/etiologia
Órtoses do Pé/efeitos adversos
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Pé Torto Equinovaro/complicações
Pé Chato/diagnóstico por imagem
Seguimentos
Seres Humanos
Lactente
Radiografia
Recidiva
Estudos Retrospectivos
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170918
[Lr] Data última revisão:
170918
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000007937


  6 / 2991 MEDLINE  
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[PMID]:28768790
[Au] Autor:Lang PJ; Avoian T; Sangiorgio SN; Nazif MA; Ebramzadeh E; Zionts LE
[Ad] Endereço:University of California, Los Angeles, 403 W. Adams Blvd, Los Angeles, CA 90007, USA.
[Ti] Título:Quantification of the ossification of the lateral cuneiform in the feet of young children with unilateral congenital talipes equinovarus.
[So] Source:Bone Joint J;99-B(8):1109-1114, 2017 Aug.
[Is] ISSN:2049-4408
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIMS: After the initial correction of congenital talipes equinovarus (CTEV) using the Ponseti method, a subsequent dynamic deformity is often managed by transfer of the tendon of tibialis anterior (TATT) to the lateral cuneiform. Many surgeons believe the lateral cuneiform should be ossified before surgery is undertaken. This study quantifies the ossification process of the lateral cuneiform in children with CTEV between one and three years of age. PATIENTS AND METHODS: The length, width and height of the lateral cuneiform were measured in 43 consecutive patients with unilateral CTEV who had been treated using the Ponseti method. Measurements were taken by two independent observers on standardised anteroposterior and lateral radiographs of both feet taken at one, two and three years of age. RESULTS: All dimensions of the lateral cuneiform on the affected side increased annually but remained smaller than the corresponding dimensions of the unaffected foot (p < 0.01). The lateral cuneiform resembled a 9 mm cube at two years and an 11 mm cube at three years. CONCLUSION: At one and two years, the ossification centre of the lateral cuneiform may not be large enough to accommodate a drill hole for tendon transfer. However, by three years, it has undergone sufficient ossification to do so. Cite this article: 2017;99-B:1109-14.
[Mh] Termos MeSH primário: Pé Torto Equinovaro/diagnóstico
Osteogênese/fisiologia
Ossos do Tarso/diagnóstico por imagem
Transferência Tendinosa/métodos
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Pé Torto Equinovaro/cirurgia
Feminino
Seguimentos
Seres Humanos
Lactente
Masculino
Prognóstico
Estudos Prospectivos
Radiografia
Ossos do Tarso/cirurgia
Fatores de Tempo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170913
[Lr] Data última revisão:
170913
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170804
[St] Status:MEDLINE
[do] DOI:10.1302/0301-620X.99B8.BJJ-2016-0999.R2


  7 / 2991 MEDLINE  
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[PMID]:28632733
[Au] Autor:Ganesan B; Luximon A; Al-Jumaily A; Balasankar SK; Naik GR
[Ad] Endereço:The Hong Kong Polytechnic University, Hung Hom, Hong Kong SAR.
[Ti] Título:Ponseti method in the management of clubfoot under 2 years of age: A systematic review.
[So] Source:PLoS One;12(6):e0178299, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Congenital talipes equinovarus (CTEV), also known as clubfoot, is common congenital orthopedic foot deformity in children characterized by four components of foot deformities: hindfoot equinus, hindfoot varus, midfoot cavus, and forefoot adduction. Although a number of conservative and surgical methods have been proposed to correct the clubfoot deformity, the relapses of the clubfoot are not uncommon. Several previous literatures discussed about the technical details of Ponseti method, adherence of Ponseti protocol among walking age or older children. However there is a necessity to investigate the relapse pattern, compliance of bracing, number of casts used in treatment and the percentages of surgical referral under two years of age for clear understanding and better practice to achieve successful outcome without or reduce relapse. Therefore this study aims to review the current evidence of Ponseti method (manipulation, casting, percutaneous Achilles tenotomy, and bracing) in the management of clubfoot under two years of age. MATERIALS AND METHODS: Articles were searched from 2000 to 2015, in the following databases to identify the effectiveness of Ponseti method treatment for clubfoot: Medline, Cumulative Index to Nursing and Allied Health Literature (CINHAL), PubMed, and Scopus. The database searches were limited to articles published in English, and articles were focused on the effectiveness of Ponseti method on children with less than 2 years of age. RESULTS: Of the outcome of 1095 articles from four electronic databases, twelve articles were included in the review. Pirani scoring system, Dimeglio scoring system, measuring the range of motion and rate of relapses were used as outcome measures. CONCLUSIONS: In conclusion, all reviewed, 12 articles reported that Ponseti method is a very effective method to correct the clubfoot deformities. However, we noticed that relapses occur in nine studies, which is due to the non-adherence of bracing regime and other factors such as low income and social economic status.
[Mh] Termos MeSH primário: Pé Torto Equinovaro/cirurgia
Procedimentos Ortopédicos/métodos
[Mh] Termos MeSH secundário: Animais
Gerenciamento Clínico
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170621
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0178299


  8 / 2991 MEDLINE  
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[PMID]:28594688
[Au] Autor:van Bosse HJP; Pontén E; Wada A; Agranovich OE; Kowalczyk B; Lebel E; Senaran H; Derevianko DV; Vavilov MA; Petrova EV; Barsukov DB; Batkin SF; Eylon S; Kenis VM; Stepanova YV; Buklaev DS; Yilmaz G; Köse O; Trofimova SI; Durgut F
[Ad] Endereço:*Shriners Hospitals for Children, Philadelphia, PA †Department of Pediatric Orthopedic Surgery, Karolinska University Hospital, Stockholm, Sweden ‡Department of Orthopaedic Surgery, Saga Handicapped Children's Hospital, Saga, Japan §Arthrogryposis Clinic, Turner Scientific and Research Institute for Children's Orthopedics, Saint Petersburg, Russia ††Turner Scientific and Research Institute for Children's Orthopedics §§Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Turner Scientific and Research Institute for Children's Orthopedics, Saint Petersburg **Yaroslavl Regional Children's Hospital, Yaroslavl, Russia ∥Department of Pediatric Orthopedics and Trauma Surgery, University Children's Hospital of Krakow, Krakow, Poland ¶ALYN Rehabilitation Hospital for Children and Adolescents, and Pediatric Orthopedic Service, Shaare-Zedek Medical Center #Faculty of Medicine, Selcuk University, Konya, and Faculty of Medicine, Erzincan University, Erzincan, Turkey ∥∥Department of Orthopedics and Traumatology, Medical School of Selcuk University ¶¶Konya Bozkir State Hospital ##Department of Orthopedics and Traumatology, Meram University Hospital and Selçuk University Faculty of Medicine, Konya, Turkey.
[Ti] Título:Treatment of the Lower Extremity Contracture/Deformities.
[So] Source:J Pediatr Orthop;37 Suppl 1:S16-S23, 2017 Jul/Aug.
[Is] ISSN:1539-2570
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lower extremity deformities of patients with arthrogryposis multiplex congenita present a wide spectrum of severity and deformity combinations. Treatment goals range from merely ensuring comfortable seating and shoe wear, to fully independent and active ambulation, but the overarching intention is to help realize the patient's greatest potential for independence and function. Treatment of hip and knee contractures and dislocations has become more interventional, whereas treatment of foot deformities has paradoxically become much less surgical. This article synopsizes the treatment strategies presented in September 2014 in Saint Petersburg, Russia at the second international symposium on arthrogryposis.
[Mh] Termos MeSH primário: Artrogripose/cirurgia
Artroplastia/métodos
Contratura/cirurgia
Músculo Esquelético/cirurgia
[Mh] Termos MeSH secundário: Pré-Escolar
Pé Torto Equinovaro/cirurgia
Feminino
Contratura de Quadril/cirurgia
Articulação do Quadril/anormalidades
Articulação do Quadril/cirurgia
Seres Humanos
Lactente
Luxações Articulares/cirurgia
Articulação do Joelho/anormalidades
Articulação do Joelho/cirurgia
Masculino
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170609
[St] Status:MEDLINE
[do] DOI:10.1097/BPO.0000000000001005


  9 / 2991 MEDLINE  
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[PMID]:28577551
[Au] Autor:Powis Z; Hart A; Cherny S; Petrik I; Palmaer E; Tang S; Jones C
[Ad] Endereço:Ambry Genetics, 15 Argonaut, Aliso Viejo, CA, 92656, USA. zpowis@ambrygen.com.
[Ti] Título:Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.
[So] Source:BMC Med Genet;18(1):60, 2017 Jun 02.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions. CASE PRESENTATION: We report a male infant born with multiple anomalies including bilateral dysplastic kidneys, cleft palate, bilateral talipes, and bilateral absence of thumbs and first toes. Prenatal testing including chromosome analysis and microarray did not identify a cause for the multiple congenital anomalies. Postnatal diagnostic exome studies (DES) were utilized to find a molecular diagnosis for the patient. Exome sequencing of the proband, mother, and father showed a previously unreported maternally inherited RNA binding motif protein 10 (RBM10) c.1352_1353delAG (p.E451Vfs*66) alteration. Mutations in RBM10 are associated with TARP syndrome, an X-linked recessive disorder originally described with cardinal features of talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava. CONCLUSION: DES established a molecular genetic diagnosis of TARP syndrome for a neonatal patient with a poor prognosis in whom traditional testing methods were uninformative and allowed for efficient diagnosis and future reproductive options for the parents. Other reported cases of TARP syndrome demonstrate significant variability in clinical phenotype. The reported features in this infant including multiple hemivertebrae, imperforate anus, aplasia of thumbs and first toes have not been reported in previous patients, thus expanding the clinical phenotype for this rare disorder.
[Mh] Termos MeSH primário: Pé Torto Equinovaro/diagnóstico
Pé Torto Equinovaro/genética
Cardiopatias Congênitas/diagnóstico
Cardiopatias Congênitas/genética
Síndrome de Pierre Robin/diagnóstico
Síndrome de Pierre Robin/genética
Proteínas de Ligação a RNA/genética
[Mh] Termos MeSH secundário: Exoma
Evolução Fatal
Seres Humanos
Lactente
Masculino
Mutação
Fenótipo
Prognóstico
Análise de Sequência de DNA
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RBM10 protein, human); 0 (RNA-Binding Proteins)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170803
[Lr] Data última revisão:
170803
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170605
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0426-3


  10 / 2991 MEDLINE  
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[PMID]:28334780
[Au] Autor:Miller EE; Kobayashi GS; Musso CM; Allen M; Ishiy FAA; de Caires LC; Goulart E; Griesi-Oliveira K; Zechi-Ceide RM; Richieri-Costa A; Bertola DR; Passos-Bueno MR; Silver DL
[Ad] Endereço:Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC, USA.
[Ti] Título:EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.
[So] Source:Hum Mol Genet;26(12):2177-2191, 2017 Jun 15.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Biallelic loss-of-function mutations in the RNA-binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here, we used two complementary approaches, patient-derived induced pluripotent stem cells (iPSCs) and conditional Eif4a3 mouse models, to demonstrate that defective neural crest cell (NCC) development explains RCPS craniofacial abnormalities. RCPS iNCCs have decreased migratory capacity, a distinct phenotype relative to other craniofacial disorders. Eif4a3 haploinsufficient embryos presented altered mandibular process fusion and micrognathia, thus recapitulating the most penetrant phenotypes of the syndrome. These defects were evident in either ubiquitous or NCC-specific Eif4a3 haploinsufficient animals, demonstrating an autonomous requirement of Eif4a3 in NCCs. Notably, RCPS NCC-derived mesenchymal stem-like cells (nMSCs) showed premature bone differentiation, a phenotype paralleled by premature clavicle ossification in Eif4a3 haploinsufficient embryos. Likewise, nMSCs presented compromised in vitro chondrogenesis, and Meckel's cartilage was underdeveloped in vivo. These findings indicate novel and essential requirements of EIF4A3 for NCC migration and osteochondrogenic differentiation during craniofacial development. Altogether, complementary use of iPSCs and mouse models pinpoint unique cellular mechanisms by which EIF4A3 mutation causes RCPS, and provide a paradigm to study craniofacial disorders.
[Mh] Termos MeSH primário: Pé Torto Equinovaro/genética
RNA Helicases DEAD-box/genética
RNA Helicases DEAD-box/metabolismo
Fator de Iniciação 4A em Eucariotos/genética
Fator de Iniciação 4A em Eucariotos/metabolismo
Deformidades Congênitas da Mão/genética
Síndrome de Pierre Robin/genética
[Mh] Termos MeSH secundário: Animais
Osso e Ossos/metabolismo
Região Branquial/metabolismo
Diferenciação Celular/genética
Movimento Celular
Condrogênese/genética
Pé Torto Equinovaro/metabolismo
Anormalidades Craniofaciais/genética
Anormalidades Craniofaciais/metabolismo
Modelos Animais de Doenças
Deformidades Congênitas da Mão/metabolismo
Seres Humanos
Células-Tronco Pluripotentes Induzidas/metabolismo
Camundongos
Crista Neural/crescimento & desenvolvimento
Crista Neural/metabolismo
Osteogênese/genética
Síndrome de Pierre Robin/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.7.7.- (Eukaryotic Initiation Factor-4A); EC 3.6.1.- (EIF4A3 protein, human); EC 3.6.4.13 (DEAD-box RNA Helicases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171012
[Lr] Data última revisão:
171012
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170324
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddx078



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