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1.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi ; 34(7): 820-825, 2020 Jul 15.
Artigo em Chinês | MEDLINE | ID: mdl-32666722

RESUMO

Objective: To investigate the effectiveness of local subcutaneous pedicled fat flap filling and separation of the synostosis area associated with radial shortening osteotomy and plate internal fixation for the treatment of congenital radioulnar synostosis. Methods: Between February 2014 and June 2018, 36 patients (41 sides) with congenital radioulnar synostosis were analyzed retrospectively, including 21 males and 15 females, aged 2.5-4.5 years with an average of 3.1 years. The fixed pronation deformity of the forearm ranged from 30° to 90° with an average of 71.6°, and the range of motion of the elbow flexion was 120°-135° with an average of 128.2°. According to the Cleary-Omer classification, there were 8 sides of type Ⅱ, 17 sides of type Ⅲ, and 16 sides of type Ⅳ. All patients were treated by local subcutaneous pedicled fat flap filling and separation of the synostosis area associated with radial shortening osteotomy and plate internal fixation. The range of motion of the elbow, muscle strength, joint stability, and patient discomfort were evaluated by using the Broberg and Morrey elbow scoring system preoperatively and postoperatively. In addition, the ability for daily living of the affected limb was evaluated by using the Failla grading standard. Results: Radial nerve palsy occurred in 3 cases, and nerve function recovered at 2-4 weeks after operation. All the 36 cases were followed up 6-52 months, with an average of 38 months. All osteotomy sites healed, the healing time was 5-12 weeks (mean, 6.3 weeks), and the pedicled fat flap between the radius and ulna survived when the internal fixation was taken. At last follow-up, the flexion range of motion of elbow joint was not decreased, and the pronation and supination range of motion of forearm were improved. The elbow flexion range of motion was 125°-135° with an average of 132.4°. The pronation range of motion of forearm was 15°-45° with an average of 30.1°, and the supination range of motion of forearm was 10°-40° with an average of 22.6°. At last follow-up, the Broberg and Morrey elbow scores increased from the preoperative 85.6±1.0 to 91.8±1.8, showing significant difference ( t=25.593, P=0.000). Moreover, the results were good in 3 sides, fair in 9 sides, and poor in 29 sides according to the Failla grading standard before operation, with an excellent and good rate of 7.3%. At last follow-up, the results were excellent in 6 sides, good in 28 sides, and fair in 7 sides, with an excellent and good rate of 82.9%, showing significant difference when compared with preoperative value ( Z=-5.781, P=0.000). Conclusion: The application of local subcutaneous pedicled fat flap filling and separation of the synostosis area associated with radial shortening osteotomy and plate internal fixation is an effective surgical method for the treatment of congenital radioulnar synostosis. It can restore the partial rotation function of the forearm and improve the quality of life of children.


Assuntos
Articulação do Cotovelo , Sinostose , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Osteotomia , Qualidade de Vida , Rádio (Anatomia)/anormalidades , Amplitude de Movimento Articular , Estudos Retrospectivos , Resultado do Tratamento , Ulna/anormalidades
2.
Medicine (Baltimore) ; 99(16): e19782, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32311987

RESUMO

RATIONALE: Congenital proximal radioulnar synostosis is a rare genetic malformation of the upper limb. This deformity, which is found mainly in preschool-aged children, has no recognized diagnosis and treatment. Current diagnostic methods cannot effectively assess both bone structure and soft tissue abnormalities, and most surgical treatments introduce complications and do not prevent recurrence. More work is needed; therefore, to address the diagnosis and treatment of this disease. PATIENT CONCERNS: An 8-year-old male patient was hospitalized in our department. He reported deformity and limited motion in his right elbow for the past 2 years. He denied a traumatic or family history of bony malformation. The chief complaint at the time of the hospitalization was the limitation in forearm rotation. DIAGNOSIS: Digital radiography of the right elbow joint showed proximal radioulnar synostosis and a valgus deformity. A 3-dimensional computed tomography scan further showed proximal ulna and radius dysplasia as well as anterior dislocation of the radius head. The patient was diagnosed with congenital right proximal radioulnar synostosis. INTERVENTIONS: Surgical procedures included arthrolysis of the right proximal radioulnar joint, osteotomy of the proximal radius, internal fixation with Kirschner wires, and reconstruction of the annular ligament. The right elbow was immobilized in plaster in a flexion and supination position for 2 weeks. OUTCOMES: Recurrence of the right proximal radioulnar synostosis was observed during the 6-month follow-up, but the rotation function of the patient's forearm was significantly improved. LESSONS: The findings from this case suggest that we should carefully monitor all patients younger than 6 years old who report long-term issues with forearm rotation. This case also highlights the need to assess soft tissue and epiphysis abnormalities in addition to bone assessments via digital radiography and 3-dimensional computed tomography. We suggest that surgery should not be performed until the proximal radius epiphysis has closed. Not all cases require surgical treatment, but when surgery is needed, a suitable method should be selected according to the individual needs of the patient. Any surgery performed should treat both the bony malformations and soft tissue abnormalities to maximize the therapeutic effect and reduce complications during and after surgery.


Assuntos
Procedimentos Ortopédicos/métodos , Rádio (Anatomia)/anormalidades , Sinostose/cirurgia , Ulna/anormalidades , Criança , Humanos , Masculino , Rádio (Anatomia)/diagnóstico por imagem , Rádio (Anatomia)/cirurgia , Sinostose/diagnóstico por imagem , Ulna/diagnóstico por imagem , Ulna/cirurgia
3.
Am J Obstet Gynecol ; 221(6): B16-B18, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31787159

Assuntos
Ossos do Carpo/anormalidades , Deformidades Congênitas dos Membros/diagnóstico por imagem , Rádio (Anatomia)/anormalidades , Polegar/anormalidades , Anormalidades Induzidas por Medicamentos/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Amniocentese , Síndrome de Bandas Amnióticas/complicações , Síndrome de Bandas Amnióticas/diagnóstico , Canal Anal/anormalidades , Ossos do Carpo/diagnóstico por imagem , Amostra da Vilosidade Coriônica , Síndrome Congênita de Insuficiência da Medula Óssea/complicações , Síndrome Congênita de Insuficiência da Medula Óssea/diagnóstico , Síndrome Congênita de Insuficiência da Medula Óssea/genética , Diagnóstico Diferencial , Esôfago/anormalidades , Anemia de Fanconi/complicações , Anemia de Fanconi/diagnóstico , Anemia de Fanconi/genética , Feminino , Testes Genéticos , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Comunicação Interatrial/complicações , Comunicação Interatrial/diagnóstico , Comunicação Interatrial/genética , Humanos , Rim/anormalidades , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas das Extremidades Inferiores/complicações , Deformidades Congênitas das Extremidades Inferiores/diagnóstico , Deformidades Congênitas das Extremidades Inferiores/genética , Análise em Microsséries , Gravidez , Rádio (Anatomia)/diagnóstico por imagem , Coluna Vertebral/anormalidades , Trombocitopenia/complicações , Trombocitopenia/diagnóstico , Trombocitopenia/genética , Polegar/diagnóstico por imagem , Traqueia/anormalidades , Síndrome da Trissomia do Cromossomo 13/complicações , Síndrome da Trissomia do Cromossomo 13/diagnóstico , Síndrome da Trissomia do Cromossomo 13/genética , Síndrome da Trissomía do Cromossomo 18/complicações , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Síndrome da Trissomía do Cromossomo 18/genética , Ultrassonografia Pré-Natal , Deformidades Congênitas das Extremidades Superiores/complicações
4.
Medicine (Baltimore) ; 98(40): e17226, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31577713

RESUMO

RATIONALE: Bone malformation occurs in 10% to 25% neurofibromatosis type 1 (NF-1) patients, and the manifestations are scoliosis, congenital arch and pseudo-joint formation, bone cyst, and pathologic fracture. However, a large segmental defect without obvious signs of bone destruction has rarely been reported. PATIENT CONCERNS: A 4.5-year-old male presented with a 4-year history of shortening of the right upper limb and radial head dislocation. The X-ray indicated a lack of the distal part of the right ulna and radial head dislocation. DIAGNOSIS: The X-ray showed obvious bone resorption at the right ulna distal, proximal stubble, and distal part of the epiphyseal residue, which was 4.3 mm shorter after 14 months. The patient was finally diagnosed with NF-1 according to the pathologic examination. INTERVENTIONS: The treatment included tumor resection, ulnar osteotomy, and fixation by an Ilizarov frame. OUTCOMES: The Ilizarov frame was removed after 2.7 months of surgery. The radial head was successfully repositioned, and the elbow joint function was significantly improved. No recurrence of the deformity was noted until now. LESSONS: Osteolysis (defect without bone destruction) is an extremely rare symptom in patients with NF1. Therefore, it is essential to make the right diagnosis by comprehensive and careful physical examination.


Assuntos
Mau Alinhamento Ósseo/complicações , Mau Alinhamento Ósseo/cirurgia , Neurofibromatose 1/complicações , Neurofibromatose 1/cirurgia , Osteólise/complicações , Rádio (Anatomia)/anormalidades , Ulna/cirurgia , Pré-Escolar , Humanos , Fixadores Internos , Masculino , Osteotomia , Rádio (Anatomia)/cirurgia , Ulna/patologia
5.
Chin J Traumatol ; 22(5): 304-307, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31443938

RESUMO

Treatment of infected forearm nonunion and defects represents a difficult task for the operating surgeons. Conventional methods like composite and vascularized fibular grafts and the induced membranes filled with cancellous autografts or the Masquelet technique have been reported to be useful and successful, but sometimes it is difficult to predict the outcome and cannot address simultaneous deformities or the need to apply gradual distraction for reduction of a chronically dislocated radial head. Ilizarov technique has an answer for such conditions. We report a 43 years old man with infected ulnar defect and dislocated radial head as a result of infected Monteggia fracture: the patient was successfully treated by Ilizarov bone transport after failed attempts by bone spacer and fibular graft.


Assuntos
Mau Alinhamento Ósseo/cirurgia , Técnica de Ilizarov , Fratura de Monteggia/cirurgia , Rádio (Anatomia)/anormalidades , Adulto , Mau Alinhamento Ósseo/etiologia , Doença Crônica , Humanos , Masculino , Fratura de Monteggia/complicações , Rádio (Anatomia)/cirurgia , Resultado do Tratamento
6.
Trials ; 20(1): 339, 2019 Jun 10.
Artigo em Inglês | MEDLINE | ID: mdl-31182155

RESUMO

BACKGROUND: Radial dysplasia (RD) is a disfiguring, potentially disabling congenital upper limb anomaly. Multiple surgical techniques are in current use, with little agreement on the optimal treatment approach. At present, no core outcome set exists specifically for RD, and the literature is dominated by retrospective case series. A recent systematic review by this group demonstrated significant heterogeneity on which outcomes are measured and how they are measured. METHODS/DESIGN: The RADIATE study will conduct a three-round online Delphi process, involving adult RD patients, the parents of children with RD, hand surgeons and hand therapists. The initial list of outcomes was drawn from our recent systematic review and will be supplemented by suggestions from the stakeholder groups. Following the Delphi process, outcomes that meet the consensus in definition will be ratified at a final consensus meeting. We will then follow the COSMIN guidelines to select outcome measurement instruments. Where appropriate, these will overlap with the outcome measures specified in the forthcoming standard set for congenital upper limb anomalies published by the International Consortium for Health Outcomes Measurement. DISCUSSION: The Radial Dysplasia Assessment, Treatment and Aetiology (RADIATE) study aims to address the uncertainty in the treatment of RD, and to begin to answer the question 'What is the most appropriate treatment of the forearm and hand for children with RD?' by establishing a core outcome set. TRIAL REGISTRATION: COMET initiative study, 902 . Registered in May 2016.


Assuntos
Técnica Delfos , Deformidades Congênitas da Mão/terapia , Rádio (Anatomia)/anormalidades , Adulto , Idoso , Protocolos Clínicos , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/etiologia , Humanos , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Estudos Retrospectivos
7.
Rev. esp. cir. ortop. traumatol. (Ed. impr.) ; 63(3): 217-226, mayo-jun. 2019. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-188906

RESUMO

Introducción: La deficiencia radial longitudinal comprende anormalidades óseas, musculotendinosas y neurovasculares de etiología multifactorial del lado radial de la extremidad superior. El tratamiento incluye mejorar la longitud, la apariencia y el funcionamiento de la mano. El objetivo del trabajo es mostrar la experiencia en una serie de pacientes atendidos en los últimos 15 años y describir resultados clínicos y radiológicos. Metodología: Estudio retrospectivo de pacientes con deficiencia radial longitudinal entre 2000 a 2016. Se analizaron variables y se identificaron asociaciones de edad al momento de cirugía, sexo, lateralidad, grado de la deformidad según la clasificación Bayne-Klug modificada, técnica quirúrgica realizada, daño de la fisis, enfermedades asociadas, resultados funcionales y radiológicos. Resultados: Cuarenta y siete casos de 65 cumplían con criterios de inclusión. La edad promedio de la cirugía fue de 19 meses, 61% de sexo femenino. Según la clasificación el tipo IV fue el 60%, el tipo III el 19%, el tipo 0 el 17% y tipo I el 4%. La intervención practicada fue la centralización en el 72,3%, la radialización en el 8,5% y hubo un caso de alargamiento. Se realizó osteotomía de cúbito en el 55,3%. Hubo daño de la fisis en el 31%. La posición radiológica postoperatoria fue neutra en el 48,9%. Conclusiones: En pacientes con centralización a un año se observa una buena corrección clínica y radiológica, sin embargo esta se va perdiendo con el tiempo. El tratamiento de los tejidos blandos previo a la centralización se cree que permite obtener mejores resultados. El uso de clavo intramedular del cúbito al carpo podría estar asociado con daño de fisis del cúbito distal


Introduction: radial longitudinal deficiency (RLD) includes bone, musculotendinous and neurovascular abnormalities of multifactorial aetiology of the radial side of the upper extremity. Treatment includes improving the length of the limb, the appearance and functioning of the hand. The aim of this study was to present our experience in a series of patients attended over the past 15 years and to describe the clinical and radiological results. Methodology: a retrospective study of patients with RLD between 2000 and 2016. Variables were analyzed and age associations were identified at the time of surgery, sex, laterality, type of deformity according to the modified Bayne-Klug classification, surgical technique, physis damage, associated diseases, functional and radiological results. Results: 47 cases of 65 met the inclusion criteria. The average age of surgery was 19 months, 61% female. According to classification 60% were type IV, type III 19%, type 0 in 17% and type I in 4%. The intervention was centralization 72.3%, radialization 8.5% and one case of lengthening. Ulna osteotomy was performed in 55.3%. There was damage to the physis in 31%. The postoperative radiological position was neutral in 48.9%. Conclusions: In patients with centralization at 1year, good clinical and radiological correction were observed, however this was lost over time. The management of soft tissues prior to centralization is believed to give better results. The use of intramedullary nail from the ulna to the carpus could be associated with damage to the distal ulna


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Lactente , Pré-Escolar , Alongamento Ósseo/métodos , Rádio (Anatomia)/anormalidades , Fatores Etários , Pinos Ortopédicos/efeitos adversos , Ossos do Carpo/anormalidades , Osteotomia/estatística & dados numéricos , Rádio (Anatomia)/diagnóstico por imagem , Rádio (Anatomia)/cirurgia , Estudos Retrospectivos , Fatores Sexuais , Polegar/anormalidades , Resultado do Tratamento , Ulna/lesões , Ulna/cirurgia , Deformidades Congênitas das Extremidades Superiores/classificação , Deformidades Congênitas das Extremidades Superiores/diagnóstico por imagem , Deformidades Congênitas das Extremidades Superiores/cirurgia
8.
Medicine (Baltimore) ; 98(22): e15547, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31145275

RESUMO

RATIONALE: In this paper, the efficacy and safety of using navigated drilling and arthroscopy (NDA) to assist surgery for ulnar-radial joint dislocation caused by epiphyseal premature closure (EPC) are described. Deformity correction surgery was mentioned in the literature, but there were numerous complications, for example, poor correction, infection, neurovascular injury, osteofascial compartment syndrome, failure of internal fixation, and nonunion after osteotomy. In order to minimize surgical complications, we utilized navigated drilling to finish accuracy bone bridge resection and applied arthroscopy to assess wrist lesions. PATIENT CONCERNS: An 11-year-old male patient showed swelling and pain of the left wrist. DIAGNOSES: The patient was diagnosed with a postoperative of Kirschner wire internal fixation for epiphyseal injury, left lower ulnar-radial joint dislocation, left wrist deformity, and EPC. INTERVENTIONS: A NDA was used to assist the bone bridge resection in this patient. OUTCOMES: Pain was relieved clearly in the patient. Dorsiflexion increased from 60.8° to 85.3°, palmar flexion increased from 45.3° to 65.8°, supination increased from 41.3° to 69.5°, and pronation increased from 31.6° to 62.9°. The preoperative disabilities of the arm, shoulder, and hand (DASH) score was 86.1, which was increased to 16.4 postoperatively. Surgery designing lasted for 2 minutes, bone bridge resection lasted for 56 minutes, and fluoroscopic time was 2.4 minutes. Complications, for example, neurological injury, vascular injury, infection and deformity aggressive, were not found during the 5-month follow up. LESSONS: The outcome of the present study suggests that the NDA maximizes the bone bridge resection accuracy in EPC treatment, which is made efficient by reducing surgical trauma and avoiding neurovascular injury. An experience was gained that in the process of bone bridge removal, the bit of navigated drill should be continuously washed with normal saline to cool down, so as to avoid damage of nerve caused by heat conduction.


Assuntos
Artroplastia Subcondral/métodos , Artroscopia/métodos , Doenças do Desenvolvimento Ósseo/complicações , Lâmina de Crescimento , Luxações Articulares/cirurgia , Criança , Humanos , Luxações Articulares/etiologia , Masculino , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Rádio (Anatomia)/anormalidades , Rádio (Anatomia)/cirurgia , Ulna/anormalidades , Ulna/cirurgia
9.
Genet Med ; 21(11): 2577-2585, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31138930

RESUMO

PURPOSE: Radioulnar synostosis (RUS) can be syndromic or nonsyndromic. The genetic basis for several RUS syndromes have been reported. However, the genetic cause of nonsyndromic RUS (nsRUS) remains unknown. METHODS: We performed Giemsa (GTG) banding, Sanger sequencing, and exome sequencing on patients (n = 140) and families (n = 11) who suffered from RUS. RESULTS: GTG banding identified 10% RUS sporadic cases affected by sex chromosome aneuploidy. Sanger sequencing on candidate genes revealed noggin (NOG) rarely mutated in nsRUS. Exome sequencing identified 16 loss-of-function (LOF) and 6 missense variants (minor allele frequency [MAF] < 0.0001) in 22/117 nsRUS sporadic patients. Genetic association analysis found a significant association between SMAD6-LOF variants and nsRUS risk (odds ratio [OR] = 430, 95% confidence interval [CI]: 238-780, P < 0.000001). SMAD6 mutated in nsRUS was further confirmed by direct Sanger sequencing of SMAD6-coding regions on other unrelated cohorts of nsRUS cases or families. In summary, we detected 27 SMAD6 rare variants in nsRUS, most of which were LOF variants, 4 were de novo, and 3 were transmitted in families with autosomal dominant inheritance. CONCLUSION: As an intracellular bone morphogenetic protein (BMP) antagonist gene, SMAD6 is frequently mutated in nsRUS. NOG, which encodes an extracellular BMP antagonist, is rarely mutated in nsRUS. This work is the first genetic study on nsRUS.


Assuntos
Rádio (Anatomia)/anormalidades , Proteína Smad6/genética , Sinostose/genética , Ulna/anormalidades , Adolescente , Adulto , Alelos , Criança , Pré-Escolar , Família , Feminino , Frequência do Gene/genética , Humanos , Lactente , Recém-Nascido , Masculino , Mutação de Sentido Incorreto/genética , Linhagem , Penetrância , Análise de Sequência de DNA/métodos , Proteína Smad6/metabolismo , Sequenciamento Completo do Exoma/métodos
10.
Z Geburtshilfe Neonatol ; 223(4): 239-244, 2019 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-31096277

RESUMO

This is a case report of an isolated congenital radial head dislocation (CRHD) presenting after a breech delivery. The implications of this delivery mode led to the misdiagnosis of an elbow luxation. We found that elbow luxation is a common misdiagnosis of CRHD, although it has not been reported in children younger than one year. For the experienced clinician, repeated examinations and appropriate imaging usually lead to the exclusion of such misdiagnoses. CRHD itself usually remains asymptomatic until adolescence. Without pain or functional impairment of the joint, no specific therapy is needed. This case prompted us to provide an overview of elbow pathologies presenting at birth.


Assuntos
Apresentação Pélvica , Articulação do Cotovelo/diagnóstico por imagem , Cotovelo/diagnóstico por imagem , Luxações Articulares/congênito , Rádio (Anatomia)/anormalidades , Adolescente , Criança , Parto Obstétrico , Diagnóstico Diferencial , Articulação do Cotovelo/fisiopatologia , Feminino , Humanos , Recém-Nascido , Luxações Articulares/diagnóstico por imagem , Gravidez , Rádio (Anatomia)/diagnóstico por imagem
11.
J Orthop Surg Res ; 14(1): 81, 2019 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-30894220

RESUMO

BACKGROUND: The aim of this study was to assess the feasibility and efficacy of proximal radioulnar derotational osteotomy followed by internal fixation for the treatment of congenital radioulnar synostosis (CRUS). METHODS: Between May 2008 and August 2016, 31 patients (36 forearms) with CRUS who underwent derotational osteotomy at the proximal radioulnar synostosis site were evaluated. There were 20 boys and 11 girls. The mean age at the time of surgery was 4.87 ± 3.06 (range, 2 to 13) years. The forearm was derotated to the goal position (20 degrees of supination to 10 degrees of pronation) using plates for internal fixation and plaster splints for external immobilization. Pre- and postoperative positions of the forearm were recorded; forearm function was evaluated based on the classification system proposed by Failla et al. RESULTS: The mean follow-up duration was 55.19 ± 27.10 (24 to 123) months. The mean initial pronation deformity was 62.92 ± 7.11 (55 to 80) degrees. The mean correction achieved was 70.86 ± 9.58 (50 to 90) degrees, resulting in a mean final position of 7.94 ± 7.25 degrees of supination (20 degrees of supination to 10 degrees of pronation). Based on the Failla classification system, 2 forearms were rated as good, 30 were rated as fair, and 4 were rated as poor preoperatively. At the final follow-up, 34 forearms were rated as excellent and 2 were rated as good. All patients achieved bone union after 2 months. Complications occurred in three patients (two transient nerve palsies and one compartment syndrome), and the overall complication rate was 9.7%. CONCLUSIONS: Proximal radioulnar derotational osteotomy followed by plate fixation is a safe and feasible procedure with a low complication rate. The technique can effectively improve the function of the forearm. LEVEL OF EVIDENCE IV: Retrospective case series.


Assuntos
Fixadores Internos , Osteotomia/métodos , Rádio (Anatomia)/anormalidades , Sinostose/diagnóstico por imagem , Sinostose/cirurgia , Ulna/anormalidades , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Estudos de Viabilidade , Feminino , Seguimentos , Humanos , Masculino , Osteotomia/instrumentação , Rádio (Anatomia)/diagnóstico por imagem , Rádio (Anatomia)/cirurgia , Estudos Retrospectivos , Rotação , Resultado do Tratamento , Ulna/diagnóstico por imagem , Ulna/cirurgia
12.
Birth Defects Res ; 111(10): 591-597, 2019 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-30887706

RESUMO

BACKGROUND: The VATER/VACTERL association refers to the nonrandom co-occurrence of at least three of the following component features (CFs): vertebral defects (V), anorectal malformations (ARM) (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). Patients presenting with two CFs have been termed VATER/VACTERL-like phenotypes. METHODS: We surveyed the exome for recessive disease variants in three affected sib-pairs. Sib-pair 971 consisted of two brothers with ARM and additional hydronephrosis in one brother. Sib-pair 1098 consisted of two sisters with ARM. In family 1346, the daughter presented with ARM and additional hypoplasia of both small fingers and ankyloses. Her brother presented with unilateral isolated radial hypoplasia. Sib-pairs 971 and 1346 resembled a VATER/VACTERL-like phenotype. RESULTS: We detected a novel maternally inherited missense variant (c.1340G > T) and a rare paternally inherited deletion of the trans-allele in HSPA6 in both siblings of family 1346. HSPA6 belongs to the heat shock protein (HSP) 70 family. Re-sequencing of HSPA6 in 167 patients with VATER/VACTERL and VATER/VACTERL-like phenotypes did not reveal any additional bi-allelic variants. CONCLUSIONS: Until now, only TNF-receptor associated protein 1 (TRAP1) had been reported as an autosomal recessive disease-gene for the VATER/VACTERL association. TRAP1 belongs to the heat shock protein 90 family (HSP90). Both Hsp70 and Hsp90 genes have been shown to be important embryonic drivers in the formation of mouse embryonic forelimb tissue. Our results suggest HSPA6 as a new candidate gene in VATER/VACTERL-like phenotypes.


Assuntos
Canal Anal/anormalidades , Anus Imperfurado/genética , Esôfago/anormalidades , Proteínas de Choque Térmico HSP70/genética , Cardiopatias Congênitas/genética , Rim/anormalidades , Deformidades Congênitas dos Membros/genética , Rádio (Anatomia)/anormalidades , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Anormalidades Múltiplas/genética , Alelos , Malformações Anorretais/genética , Anus Imperfurado/diagnóstico , Atresia Esofágica , Exoma , Feminino , Proteínas de Choque Térmico HSP70/metabolismo , Proteínas de Choque Térmico HSP90/genética , Cardiopatias Congênitas/diagnóstico , Humanos , Deformidades Congênitas dos Membros/diagnóstico , Masculino , Mutação , Fenótipo , Irmãos , Fístula Traqueoesofágica
14.
J Shoulder Elbow Surg ; 28(3): 525-529, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30502032

RESUMO

BACKGROUND: Only few reports have described the outcome of pediatric patients following radial head resection. Therefore, the aim of the present study was to assess clinical and radiologic outcome of patients with open physes following resection of the radial head. MATERIALS AND METHODS: Skeletally immature patients treated with resection of the radial head were included. Range of motion (ROM) of the elbow joint was compared with preoperative values. Grip strength, pronation and supination strength, and carrier angle were compared with the unaffected side. Radiographs were assessed for signs of arthrosis, radial migration, and perifocal ossification. Disabilities of the Arm, Shoulder and Hand and Mayo Elbow Performance scores were obtained. RESULTS: The study included 7 patients (mean age, 11 years), 5 with post-traumatic and 2 with congenitally impaired elbow joint motion. Mean follow-up was 47 months. Pronation/supination ROM improved significantly (P = .018). Extension/flexion ROM did not improve significantly (P = .122). Although grip strength (P = .027) and pronation strength (P = .028) of the affected side were significantly lower compared with the contralateral side, supination strength did not differ significantly (P = .176). The carrying angle was increased in 3 patients. Significant radial migration occurred (mean, 3 mm; standard deviation [SD], 3 mm; P = .018). Arthrosis was found in 3 patients. The mean Disabilities of the Arm, Shoulder and Hand score was 16.1 (range 8.8-30.8; SD, 10.1) and mean Mayo Elbow Performance Score was 88 (range, 70-100; SD, 12). CONCLUSIONS: Radial head excision may be considered for selected patients with open physes in cases of severe impairment of pronation/supination. However, sequelae such as radial migration, arthrosis, and elevation of the carrying angle should be expected.


Assuntos
Articulação do Cotovelo/fisiopatologia , Articulação do Cotovelo/cirurgia , Rádio (Anatomia)/cirurgia , Amplitude de Movimento Articular , Adolescente , Criança , Articulação do Cotovelo/diagnóstico por imagem , Epífises/cirurgia , Feminino , Força da Mão , Humanos , Masculino , Período Pós-Operatório , Período Pré-Operatório , Pronação , Radiografia , Rádio (Anatomia)/anormalidades , Rádio (Anatomia)/diagnóstico por imagem , Fraturas do Rádio/cirurgia , Estudos Retrospectivos , Supinação , Resultado do Tratamento
15.
Rev Esp Cir Ortop Traumatol ; 63(3): 217-226, 2019.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30541698

RESUMO

INTRODUCTION: radial longitudinal deficiency (RLD) includes bone, musculotendinous and neurovascular abnormalities of multifactorial aetiology of the radial side of the upper extremity. Treatment includes improving the length of the limb, the appearance and functioning of the hand. The aim of this study was to present our experience in a series of patients attended over the past 15 years and to describe the clinical and radiological results. METHODOLOGY: a retrospective study of patients with RLD between 2000 and 2016. Variables were analyzed and age associations were identified at the time of surgery, sex, laterality, type of deformity according to the modified Bayne-Klug classification, surgical technique, physis damage, associated diseases, functional and radiological results. RESULTS: 47 cases of 65 met the inclusion criteria. The average age of surgery was 19 months, 61% female. According to classification 60% were type IV, type III 19%, type 0 in 17% and type I in 4%. The intervention was centralization 72.3%, radialization 8.5% and one case of lengthening. Ulna osteotomy was performed in 55.3%. There was damage to the physis in 31%. The postoperative radiological position was neutral in 48.9%. CONCLUSIONS: In patients with centralization at 1year, good clinical and radiological correction were observed, however this was lost over time. The management of soft tissues prior to centralization is believed to give better results. The use of intramedullary nail from the ulna to the carpus could be associated with damage to the distal ulna.


Assuntos
Alongamento Ósseo/métodos , Rádio (Anatomia)/anormalidades , Fatores Etários , Pinos Ortopédicos/efeitos adversos , Ossos do Carpo/anormalidades , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Osteotomia/estatística & dados numéricos , Rádio (Anatomia)/diagnóstico por imagem , Rádio (Anatomia)/cirurgia , Estudos Retrospectivos , Fatores Sexuais , Polegar/anormalidades , Resultado do Tratamento , Ulna/lesões , Ulna/cirurgia , Deformidades Congênitas das Extremidades Superiores/classificação , Deformidades Congênitas das Extremidades Superiores/diagnóstico por imagem , Deformidades Congênitas das Extremidades Superiores/cirurgia
17.
J Hand Surg Eur Vol ; 44(1): 43-50, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29587601

RESUMO

Preaxial polydactyly is a congenital hand anomaly predominantly of sporadic occurrence, which is frequently associated with abnormalities of the Sonic hedgehog signalling pathway. In experimentally induced preaxial polydactyly, radial aplasia is also frequently observed. To determine if there is a correlation between preaxial polydactyly and radial aplasia, we induced ectopic Sonic hedgehog signalling during chicken limb development with application of a smoothened-agonist (SAG) or retinoic acid. Application of SAG caused malformations in 71% limbs including preaxial polydactyly (62%) and forearm abnormalities (43%). Retinoic acid application induced malformations in 56% of limb including preaxial polydactyly (45%) and forearm abnormalities (50%). Radial dysplasia and ulnar dimelia were observed in both experimental conditions. We demonstrate that ectopic Sonic hedgehog signalling may cause both preaxial polydactyly and predictable forearm anomalies and that these conditions could potentially be classified as one embryological group. We propose a unifying model based on known models of ectopic Sonic hedgehog signalling.


Assuntos
Proteínas Hedgehog/genética , Botões de Extremidades/embriologia , Polidactilia/genética , Rádio (Anatomia)/anormalidades , Polegar/anormalidades , Asas de Animais/embriologia , Animais , Embrião de Galinha , Cicloexilaminas , Regulação da Expressão Gênica no Desenvolvimento , Humanos , Modelos Animais , Transdução de Sinais , Tiofenos , Tretinoína
18.
Taiwan J Obstet Gynecol ; 57(4): 598-600, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30122586

RESUMO

OBJECTIVE: All of the medical records of fetuses with the sonographic finding of radial ray defects (RRDs) between 2008 and 2015 were retrieved. The associated sonographic findings, cytogenetic results, and necropsy findings were correlated. CASE REPORT: There were 6 cases of RRD. Three cases were bilateral and the other 3 cases were unilateral. The gestational ages at diagnosis were between 12 and 24 weeks gestation. All women carrying fetuses with RRDs opted to terminate the pregnancy. There were 2 cases of trisomy 18, one case of thrombocytopenia-absent radius syndrome, and 2 cases of isolated RRD. Both cases of trisomy 18 had other sonographic abnormalities. CONCLUSION: RRD should be considered if a short radius and abnormal angulation of the wrist or thumb is noted. The use of 3-D ultrasound facilitates the diagnosis of RRD, even at early gestation, by providing a better surface appearance, panoramic views, and spatial orientation.


Assuntos
Rádio (Anatomia)/anormalidades , Rádio (Anatomia)/diagnóstico por imagem , Ultrassonografia Pré-Natal , Feminino , Idade Gestacional , Humanos , Imageamento Tridimensional/métodos , Gravidez , Rádio (Anatomia)/embriologia , Trombocitopenia , Síndrome da Trissomía do Cromossomo 18 , Ultrassonografia Pré-Natal/métodos
19.
J Hand Surg Eur Vol ; 43(9): 907-918, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30134749

RESUMO

Vascularized second metatarsophalangeal joint transfer offers a possibility to reconstruct the radial support which is lacking in radial dysplasia. Our experience from 1987 to 2017 with 34 congenital radial club hand reconstructions have allowed a possibility for long-term evaluation of the method. Compared with conventional methods, second metatarsophalangeal joint transfer results in better wrist mobility and does not restrict typical ulnar growth. The balance of the wrist remains good until age 11. Thereafter, the growth of the vascularized bone graft transfer matches only partially the distal ulnar growth in adolescence, resulting in mild recurrence of radial deviation. A new option to create a two-bone forearm in selected Bayne-Klug Type III radial dysplasia cases will allow a relatively good pro-supination ability. Potentially, a proximal fibular epiphyseal transfer could be a future solution. Currently, a safe harvest of the proximal fibula at childhood remains controversial.


Assuntos
Deformidades Congênitas da Mão/cirurgia , Articulações/transplante , Articulação Metatarsofalângica/irrigação sanguínea , Articulação Metatarsofalângica/cirurgia , Rádio (Anatomia)/cirurgia , Humanos , Osteogênese por Distração , Cuidados Pré-Operatórios , Rádio (Anatomia)/anormalidades , Articulação do Punho/cirurgia
20.
J Shoulder Elbow Surg ; 27(10): 1898-1906, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30139681

RESUMO

BACKGROUND: The major complication and reoperation rates after distal biceps repair are poorly defined. The purpose of this large retrospective cohort study of distal biceps repairs performed by multiple surgeons within a large orthopedic group was to more clearly define the rates and risk factors of clinically impactful major complications and reoperations. METHODS: All distal biceps tendon repairs performed from January 2005 through April 2017 with a minimum 2-month follow-up were identified using Current Procedural Terminology code 24342. We included 970 patients. The primary outcome measure was the total major complication rate. Reoperations, minor complications, and risk factors were also tracked. RESULTS: Repairs were performed via a single anterior incision in 652 cases and a 2-incision exposure in 318 cases. A 7.5% major complication rate and 4.5% reoperation rate were observed overall. Major complications occurred at the following rates: proximal radioulnar synostosis, 1.0%; heterotopic ossification or loss of range of motion with reoperation, 0.9%; tendon rerupture, 1.6%; deep infection, 0.5%; posterior interosseous nerve palsy, 1.9%; and complex regional pain syndrome, 0.6%. The 2-incision exposure was identified as a significant risk factor for the development of proximal radioulnar synostosis when compared with single-incision repair techniques (P = .0003; odds ratio, 19), occurring in 2.8% of 2-incision exposure cases. Lateral antebrachial cutaneous nerve neuritis or numbness and radial sensory nerve neuritis or numbness were documented more frequently in the postoperative period among patients treated with a single-incision exposure (P < .0001 and P = .034, respectively). CONCLUSIONS: Distal biceps repair is associated with a 7.5% major complication rate and 4.5% reoperation rate. The use of a 2-incision technique for repair increases the risk of radioulnar synostosis.


Assuntos
Neurite (Inflamação)/etiologia , Procedimentos Ortopédicos/efeitos adversos , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , Nervo Radial , Traumatismos dos Tendões/cirurgia , Adulto , Articulação do Cotovelo/fisiopatologia , Feminino , Humanos , Hipestesia/etiologia , Masculino , Pessoa de Meia-Idade , Procedimentos Ortopédicos/métodos , Ossificação Heterotópica/etiologia , Rádio (Anatomia)/anormalidades , Amplitude de Movimento Articular , Reoperação , Estudos Retrospectivos , Fatores de Risco , Ruptura/cirurgia , Sinostose/etiologia , Ulna/anormalidades
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