Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.

Cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome (MIM 600373) was first described and named by Shehib et al, in 1991 in a single patient. The anomalies referred to in the acronym are as follows: cerebral-developmental delay, ocular-cataracts, dental-aberrant cusp morphology and delayed eruption, auricular-malformations of the external ear, and skeletal-spondyloepiphyseal dysplasia. This distinctive constellation of anatomical findings should allow easy recognition but despite this only four apparently sporadic patients have been reported in the last 20 years indicating that the full phenotype is indeed very rare with perhaps milder or a typical presentations that are allelic but without sufficient phenotypic resemblance to permit clinical diagnosis. We performed exome sequencing in three patients (an isolated case and a brother and sister sib pair) with classical features of CODAS. Sanger sequencing was used to confirm results as well as for mutation discovery in a further four unrelated patients ascertained via their skeletal features. Compound heterozygous or homozygous mutations in LONP1 were found in all (8 separate mutations; 6 missense, 1 nonsense, 1 small in-frame deletion) thus establishing the genetic basis of CODAS and the pattern of inheritance (autosomal recessive). LONP1 encodes an enzyme of bacterial ancestry that participates in protein turnover within the mitochondrial matrix. The mutations cluster at the ATP-binding and proteolytic domains of the enzyme. Biallelic inheritance and clustering of mutations confirm dysfunction of LONP1 activity as the molecular basis of CODAS but the pathogenesis remains to be explored.

Resultados en reducción abierta de cadera por via interna: necrosis avascular y concordancia interobservador

Introducción: la luxación típica de la cadera es una patología con alta incidencia, de ahí la necesidad de métodos efectivos para lograr una reducción de esta. Han surgido varios métodos de reducción, uno de estos métodos es la reducción abierta por vía interna. Metodología Estudió descriptivo retrospectivo, incluyo los casos operados de reducción abierta por vía interna en el Instituto de Ortopedia Infantil Roosevelt y Clínica Jorge Piñeros Corpas por uno de los tutores, desde enero de 2006 hasta junio de 2011, valorando estas caderas según los criterios de Salter de necrosis avascular (NAV), con un seguimiento mínimo de 18 meses. Se evaluó la concordancia interobservador para la clasificación de Salter en tres ortopedistas infantiles. Resultados Se evaluaron 20 caderas en 16 pacientes a los que se realizo reducción abierta de luxación típica de cadera por vía interna. El 40 % de las caderas presentaron NAV, el 75% de estas caderas presentan NAV tipo I según la clasificación de Kalamchi. El índice Kappa para la clasificación de Salter en tres ortopedistas infantiles fue 0.6. Discusión El abordaje por vía interna para la reducción de luxación de cadera típica en niños menores de 18 meses es una alternativa más para el manejo de estos pacientes, que puede producir NAV en la cadera, pero esta NAV es tipo I de Kalamchi en la mayoría de casos. La reproducibilidad de la radiografía para la evaluación de NAV, realizada por personas expertas es buena, medida con índice kappa de 0.6.

Tratamiento del deslizamiento epifisiario capital femoral con fijación in situ versus luxación quirúrgica

Introducción: El Deslizamiento Epifisiario Capital Femoral es la enfermedad de la cadera más común en adolescentes entre los 9 y 16 años. Es de causa idiopática, más frecuente en hombres, se clasifica en 4 estadios según criterios clínicos y radiológicos. Se buscó evaluar la evolución de los deslizamientos moderados y severos tratados con una de las dos técnicas propuestas. Metodología Se realizó un estudio descriptivo con pacientes que fueron llevados a fijación in situ o luxación controlada entre 2008 y 2011. Resultados: Se incluyeron 26 pacientes, los cuales el 65.4% se les realizó luxación quirúrgica controlada y el 34.6% fijación in situ. El 70,6% de pacientes tenían DECF inestable y 70,5% tenían desplazamiento severo. La evaluación de la escala WOMAC para dolor, rigidez y capacidad funcional encontró mejores beneficios para el grupo de fijación in situ, estadísticamente significativos (p<0,05), no solo en términos de dolor, rigidez y capacidad funcional sino menor frecuencia de complicaciones. Las complicaciones más frecuentes en el grupo de luxación quirúrgica controlada fueron un caso de infección, 7 casos (41,2%) de necrosis avascular de cabeza femoral, 5 casos (29,4%) de condrolisis y 2 casos (11,8%) de pseudoartrosis; En el grupo de fijación in situ, solo 1 (11,1%) presentó Infección del Sitio Operatorio y 1 (11,1%) Condrolisis. Resultados significativos solo para necrosis avascular. Discusión: Los pacientes con deslizamientos moderados y severos manejados con fijación in situ tuvieron una mejor resultado con menor proporción de complicaciones.

Caracterización radiológica de pacientes con osteotomía pélvica tipo Ganz

Se realizó un estudio descriptivo observacional para describir los hallazgos radiológicos pre y postoperatorios de pacientes llevados a osteotomía periacetabular tipo Ganz, según las medidas radiológicas del mismo autor, en el Instituto de Ortopedia infantil Roosevelt entre los años 2008 y 2012.

Performance indicators for the physical therapy program’s field academic programs at the Universidad del Rosario for 2004-2007.

Introducción: El programa de Fisioterapia de la Universidad del Rosario, en su responsabilidad social de generar un impacto positivo en la comunidad y en su propósito de formar profesionales, cuenta con los Programas Académicos de Campo (PAC) que se consideran una fuerte estrategia de extensión de la Universidad. Los PAC contribuyen a la adquisición de competencias para el desarrollo de procesos de acción-actuación-creación en los estudiantes para que resuelvan problemas en un espacio real de ejercicio profesional. Bajo esta perspectiva los PAC del programa de Fisioterapia muestran su comportamiento a través de la medición de indicadores de proceso y resultados propuestos desde el Programa con el fin de proveer información útil para la reorientación y permanente actualización de los contenidos programáticos en las asignaturas y en los mismos PAC. Materiales y métodos: En el siguiente artículo se presenta un análisis de los indicadores de demanda por género, régimen de Seguridad Social en Salud, procedimiento y morbilidad de los Programas Académicos de Campo Integral Pediátrico, Integral de Adultos y Rehabilitación cardíaca y/o pulmonar, con el fin de establecer las características de la población objeto de la prestación de los servicios y procurar información verificable que dé soporte para la construcción de procesos de cambio dentro de la dinámica de mejoramiento continuo que debe tener cualquier institución. Este seguimiento es útil para la toma de decisiones de planeación académica que contribuye a mejorar los procesos de planeación y a facilitar el cumplimiento de los propósitos de formación para cada práctica, y de esta manera ayuda a ser elemento de análisis para directivas, instructores y estudiantes en la orientación del proceso de gestión académico-administrativo, y a retroalimentar los procesos de planeación y programación académica. Resultados: Los resultados arrojados en el análisis de los datos de la morbilidad en los programas académicos de campo muestran el siguiente comportamiento durante los años 2004, 2005, 2006 y 2007. Conclusiones: En el PAC pediátrico la mayor incidencia es de asma con un 37,2% y la más baja incidencia es para luxación congénita de cadera y enfermedad mental de origen central con un 0,1%. El 58% de los usuarios es de género masculino, y el 81% del total pertenece al régimen contributivo. En la morbilidad del PAC de adultos la mayor incidencia es de EPOC, con un 23,2%, y la menor incidencia es de lumbalgia, con un 2,4%. La mayoría de usuarios atendidos (58%) son hombres, y el 58% de los usuarios pertenece al régimen contributivo. En el PAC de rehabilitación cardíaca y/o pulmonar la mayor incidencia fue de EPOC, con un 40%; seguido de neumonía, con 17%; y con una menor incidencia para asma, con un 2%. El 54% de los usuarios son hombres y el 91% del total pertenece al régimen subsidiado.

Afecções ortopédicas dos membros pélvicos em cães: estudo retrospectivo

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Rationales for the Bernese approaches in acetabular surgery

PURPOSE: To present two new approaches to acetabular surgery that were established in Berne, and which aim at enhanced visualization and anatomical reconstruction of acetabular fractures. METHOD: The trochanteric flip osteotomy allows for surgical hip dislocation, and was introduced as a posterior approach for acetabular fracture management involving the posterior column and wall. For acetabular fractures predominantly involving the anterior column and the quadrilateral plate, the Pararectus approach is described. RESULTS: Full exposure of the hip joint, as provided by the trochanteric flip osteotomy, facilitates anatomical reduction of acetabular or femoral head fractures and safe positioning of the anterior column screw in transverse or T-shaped fractures. Additionally, the approach enables osteochondral transplantation as a salvage procedure for severe chondral femoral head damage and osteoplasty of an associated inadequate offset at the femoral head-neck junction. The Pararectus approach allows anatomical restoration with minimal access morbidity, and combines advantages of the ilioinguinal and modified Stoppa approaches. CONCLUSIONS: Utilization of the trochanteric flip osteotomy eases visualization of the superior aspect of the acetabulum, and enables the evaluation and treatment of chondral lesions of the femoral head or acetabulum and labral tears. Displaced fractures of the anterior column with a medialized quadrilateral plate can be addressed successfully through the Pararectus approach, in which surgical access is associated with minimal morbidity. However, long-term results following the two presented Bernese approaches are needed to confirm that in the treatment of complex acetabular fractures the rate of poor results in almost one-third of all cases (as currently yielded using traditional approaches) might be reduced by the utilization of the presented novel approaches.

Joint-preserving surgery improves pain, range of motion, and abductor strength after Legg-Calvé-Perthes disease

Patients after Legg-Calvé-Perthes disease (LCPD) often develop pain, impaired ROM, abductor weakness, and progression of osteoarthritis (OA) in early adulthood. Based on intraoperative observations during surgical hip dislocation, we established an algorithm for more detailed characterization of the underlying pathomorphologies with a proposed joint-preserving surgical treatment.

Femoral head injuries: Which treatment strategy can be recommended?

Despite different operative and non-operative treatment regimens, the outcome after femoral head fractures has changed little over the past decades. The initial trauma itself as well as secondary changes such as posttraumatic osteoarthritis, avascular necrosis or heterotopic ossification is often responsible for severe loss of function of the afflicted hip joint. Anatomic reduction of all fracture fragments seems to be a major influencing factor in determining the outcome quality. Eight years ago we inaugurated a new surgical approach for better access and visualisation for the treatment of femoral head fractures, using the "trochanteric flip" (digastric) osteotomy. Thus inspection of the entire hip joint and accurate fragment reduction under direct visual control are possible. After good initial experiences with this operative procedure we changed our standard treatment regimen to this approach in an attempt to achieve the most accurate anatomic reduction of the femoral head in every affected patient. Between 1998 and 2006 we operated on 12 patients with femoral head fractures associated with posterior hip dislocation, using the new surgical approach. Patients were followed for 2-96 months and outcome was documented with the Merle d'Aubigne and Postel score as well as the Thompson and Epstein score. The posttraumatic formation of heterotopic bone was documented with the Brooker score. Retrospective analysis of these 12 patients showed good or excellent results in 10 patients (83.3%). The two patients with poor outcome developed an avascular necrosis of the femoral head and underwent total hip arthroplasty. Periarticular heterotopic ossification was seen in five patients. In four patients this caused a significantly reduced range of motion and was therefore considered as a posttraumatic complication. The two patients with the most severe heterotopic bone formation (Brooker III and IV) had initially sustained multiple injuries including brain injury. Comparing our results with earlier published series including our own before changing the treatment protocol, the data suggest a favorable outcome in patients with trochanteric flip (digastric) osteotomy for the treatment of femoral head fractures.

Groin pain after open FAI surgery: the role of intraarticular adhesions

Femoroacetabular impingement (FAI) is an established cause of osteoarthrosis of the hip. Surgery is intended to remove the cause of impingement with hip dislocation and resection of osseous prominences of the acetabular rim and of the femoral head-neck junction. Using the Merle d'Aubigné score and qualitative categories, recent studies suggest good to excellent outcomes in 75% to 80% of patients after open surgery with dislocation of the femoral head. Unsatisfactory outcome is mainly related to pain, located either in the area of the greater trochanter or in the groin. There are several reasons for persisting groin pain. Joint degeneration with joint space narrowing and/or osteophyte formation, insufficient correction of the acetabula, and femoral pathology are known factors for unsatisfactory outcome. Recently, intraarticular adhesions between the femoral neck and joint capsule have been identified as an additional cause of postoperative groin pain. The adhesions form between the joint capsule and the resected area on the femoral neck and may lead to soft tissue impingement. MR-arthrography is used for diagnosis and the adhesions can be treated successfully by arthroscopy. While arthroscopic resection improves outcome it is technically demanding. Avoiding the formation of adhesions is important and is perhaps best accomplished by passive motion exercises after the initial surgery.

Slipped capital femoral epiphysis: relevant pathophysiological findings with open surgery

BACKGROUND Traditionally arthrotomy has rarely been performed during surgery for slipped capital femoral epiphysis (SCFE). As a result, most pathophysiological information about the articular surfaces was derived clinically and radiographically. Novel insights regarding deformity-induced damage and epiphyseal perfusion became available with surgical hip dislocation. QUESTIONS/PURPOSES We (1) determined the influence of chronicity of prodromal symptoms and severity of SCFE deformity on severity of cartilage damage. (2) In surgically confirmed disconnected epiphyses, we determined the influence of injury and time to surgery on epiphyseal perfusion; and (3) the frequency of new bone at the posterior neck potentially reducing perfusion during epimetaphyseal reduction. METHODS We reviewed 116 patients with 119 SCFE and available records treated between 1996 and 2011. Acetabular cartilage damage was graded as +/++/+++ in 109 of the 119 hips. Epiphyseal perfusion was determined with laser-Doppler flowmetry at capsulotomy and after reduction. Information about bone at the posterior neck was retrieved from operative reports. RESULTS Ninety-seven of 109 hips (89%) had documented cartilage damage; severity was not associated with higher slip angle or chronicity; disconnected epiphyses had less damage. Temporary or definitive cessation of perfusion in disconnected epiphyses increased with time to surgery; posterior bone resection improved the perfusion. In one necrosis, the retinaculum was ruptured; two were in the group with the longest time interval. Posterior bone formation is frequent in disconnected epiphyses, even without prodromal periods. CONCLUSIONS Addressing the cause of cartilage damage (cam impingement) should become an integral part of SCFE surgery. Early surgery for disconnected epiphyses appears to reduce the risk of necrosis. Slip reduction without resection of posterior bone apposition may jeopardize epiphyseal perfusion. LEVEL OF EVIDENCE Level IV, retrospective case series. See Guidelines for Authors for a complete description of levels of evidence.

Arthroscopic versus open cam resection in the treatment of femoroacetabular impingement

PURPOSE The purpose of this study was to evaluate if osseous correction of the femoral neck achieved arthroscopically is comparable to that achieved by surgical dislocation. METHODS We retrospectively analyzed all patients who were treated with hip arthroscopy or surgical dislocation for cam or mixed type femoroacetabular impingement (FAI) in our institution between 2006 and 2009. Inclusion criteria were complete clinical and radiologic documentation with standardized radiographs. Group 1 consisted of 66 patients (49 female patients, mean age 33.8 years) treated with hip arthroscopy. Group 2 consisted of 135 patients (91 male patients, mean age 31.2 years) treated with surgical hip dislocation. We compared the preoperative and postoperative alpha and gamma angles, as well as the triangular index. Mean follow-up was 16.7 months (range, 2 to 79 months). RESULTS In group 1, the mean alpha angle improved from 60.7° preoperatively to 47.8° postoperatively (P < .001) and the mean gamma angle improved from 47.3° to 44.5° (P < .001). Over time, the preoperative mean alpha angle increased from 56.3° in 2006 to 67.5° in 2009, whereas the postoperative mean alpha angle decreased from 51.2° in 2006 to 47.5° in 2009. In group 2, the mean alpha angle improved from 75.3° preoperatively to 44.8° postoperatively (P < .001), and the mean gamma angle improved from 65.1° to 52.2° (P < .001). Arthroscopic revision of intra-articular adhesions was performed in 4 patients (6.1%) in group 1 and 16 patients (12%) in group 2. Three patients (2.2%) in group 2 underwent revision for nonunion of the greater trochanter. CONCLUSIONS Osseous correction of cam-type FAI with hip arthroscopy is comparable to the correction achieved by surgical hip dislocation. There is a significant learning curve for hip arthroscopy, with postoperative osseous correction showing improved results with increasing surgical experience. LEVEL OF EVIDENCE Level III, retrospective comparative study.

Posterior approaches to the acetabulum

Posterior approaches to the hip joint were developed by Langenbeck and Kocher in the nineteenth century. Letournel created the term Kocher-Langenbeck approach which became one of the most important approaches to the hip joint. The further extension of this approach by digastric trochanteric osteotomy and subsequently by surgical hip dislocation enables visualization of the entire hip joint which allows complete evaluation of articular joint damage, quality of reduction and confirmation of extra-articular hardware. With the increasing incidence of acetabular fractures in the elderly there is a concomitant increase of complicating factors, such as multifragmentary posterior wall fractures, dome impaction, marginal impaction and femoral head damage. These factors are negative predictors and compromise a favorable outcome after acetabular surgery. With direct joint visualization these factors can be reliably recognized and corrected as adequately as possible. Surgical hip dislocation thus offers advantages in complex posterior wall, transverse and T-shaped fractures with or without posterior wall involvement. For these fracture types surgical hip dislocation represents a standard approach in our hands.

Overview of Treatment Options, Clinical Results, and Controversies in the Management of Femoroacetabular Impingement

The surgical management of symptomatic femoroacetabular impingement (FAI) generally is indicated after the failure of a trial of nonsurgical treatment. Surgical planning includes an assessment of the labrochondral pathology as well as of the acetabular and proximal femoral bony deformity. Advanced articular cartilage disease generally is associated with poorer outcomes. Surgical hip dislocation and hip arthroscopy have been used, with favorable early outcomes and low complication rates. Careful patient selection is important in predicting the success of the surgical management of symptomatic FAI. A trial of nonsurgical management generally is recommended, but limited information exists regarding its success. The early outcomes of both open and arthroscopic surgical techniques demonstrate significant improvement in most patients, with relatively low rates of complications. Because poorer clinical outcomes are associated with more advanced articular cartilage degeneration, improved strategies for the earlier identification and disease staging of symptomatic patients may enhance the long-term outcomes of both nonsurgical and surgical management.

What Are the Radiographic Reference Values for Acetabular Under- and Overcoverage?

Background Both acetabular undercoverage (hip dysplasia) and overcoverage (pincer-type femoroacetabular impingement) can result in hip osteoarthritis. In contrast to undercoverage, there is a lack of information on radiographic reference values for excessive acetabular coverage. Questions/purposes (1) How do common radiographic hip parameters differ in hips with a deficient or an excessive acetabulum in relation to a control group; and (2) what are the reference values determined from these data for acetabular under- and overcoverage? Methods We retrospectively compared 11 radiographic parameters describing the radiographic acetabular anatomy among hip dysplasia (26 hips undergoing periacetabular osteotomy), control hips (21 hips, requiring no rim trimming during surgical hip dislocation), hips with overcoverage (14 hips, requiring rim trimming during surgical hip dislocation), and hips with severe overcoverage (25 hips, defined as having acetabular protrusio). The hips were selected from a patient cohort of a total of 593 hips. Radiographic parameters were assessed with computerized methods on anteroposterior pelvic radiographs and corrected for neutral pelvic orientation with the help of a true lateral radiograph. Results All parameters except the crossover sign differed among the four study groups. From dysplasia through control and overcoverage, the lateral center-edge angle, acetabular arc, and anteroposterior/craniocaudal coverage increased. In contrast, the medial center-edge angle, extrusion/acetabular index, Sharp angle, and prevalence of the posterior wall sign decreased. The following reference values were found: lateral center-edge angle 23° to 33°, medial center-edge angle 35° to 44°, acetabular arc 61° to 65°, extrusion index 17% to 27%, acetabular index 3° to 13°, Sharp angle 38° to 42°, negative crossover sign, positive posterior wall sign, anterior femoral head coverage 15% to 26%, posterior femoral head coverage 36% to 47%, and craniocaudal coverage 70% to 83%. Conclusions These acetabular reference values define excessive and deficient coverage. They may be used for radiographic evaluation of symptomatic hips, may offer possible predictors for surgical outcomes, and serve to guide clinical decision-making.