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1.
J Orthop Res ; 42(4): 843-854, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37807082

RESUMO

This study aims at assessing approaches for generating high-resolution magnetic resonance imaging- (MRI-) based synthetic computed tomography (sCT) images suitable for orthopedic care using a deep learning model trained on low-resolution computed tomography (CT) data. To that end, paired MRI and CT data of three anatomical regions were used: high-resolution knee and ankle data, and low-resolution hip data. Four experiments were conducted to investigate the impact of low-resolution training CT data on sCT generation and to find ways to train models on low-resolution data while providing high-resolution sCT images. Experiments included resampling of the training data or augmentation of the low-resolution data with high-resolution data. Training sCT generation models using low-resolution CT data resulted in blurry sCT images. By resampling the MRI/CT pairs before the training, models generated sharper images, presumably through an increase in the MRI/CT mutual information. Alternatively, augmenting the low-resolution with high-resolution data improved sCT in terms of mean absolute error proportionally to the amount of high-resolution data. Overall, the morphological accuracy was satisfactory as assessed by an average intermodal distance between joint centers ranging from 0.7 to 1.2 mm and by an average intermodal root-mean-squared distances between bone surfaces under 0.7 mm. Average dice scores ranged from 79.8% to 87.3% for bony structures. To conclude, this paper proposed approaches to generate high-resolution sCT suitable for orthopedic care using low-resolution data. This can generalize the use of sCT for imaging the musculoskeletal system, paving the way for an MR-only imaging with simplified logistics and no ionizing radiation.


Assuntos
Planejamento da Radioterapia Assistida por Computador , Tomografia Computadorizada por Raios X , Planejamento da Radioterapia Assistida por Computador/métodos , Tomografia Computadorizada por Raios X/métodos , Imageamento por Ressonância Magnética/métodos , Osso e Ossos , Extremidade Inferior , Processamento de Imagem Assistida por Computador/métodos
2.
Eur J Med Genet ; 66(11): 104851, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37758161

RESUMO

Patients with skeletal dysplasias usually experience health related problems in different parts and systems of the body. Therefore, they face challenges in multiple domains of functioning and health. To address these different domains, interdisciplinary care should be the standard for these patients. The basic algorithm of interdisciplinary care can be similar for patients with different skeletal dysplasias, as many of the problems and needs are generic within different age groups. With increased age the domains in which patients with skeletal dysplasia face challenges will change and the focus and frequency of the interdisciplinary care should change accordingly. Thorough understanding of the specific characteristics of different skeletal dysplasias is required to create an individualized efficient interdisciplinary screening and care program. This paper presents the current structure and rationale of the interdisciplinary screening and care program of the skeletal dysplasia expert center of the University Medical Center Utrecht in the Netherlands. It is presented here, tailored to osteogenesis imperfecta, but the structure of the program is generic for all skeletal dysplasias.


Assuntos
Doenças do Desenvolvimento Ósseo , Osteocondrodisplasias , Osteogênese Imperfeita , Humanos , Longevidade , Osteocondrodisplasias/genética , Osteocondrodisplasias/terapia , Osteocondrodisplasias/diagnóstico , Osteogênese Imperfeita/genética , Osteogênese Imperfeita/terapia , Osteogênese Imperfeita/diagnóstico , Países Baixos , Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/terapia , Doenças do Desenvolvimento Ósseo/diagnóstico
3.
Front Vet Sci ; 10: 1160177, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37152693

RESUMO

Hip dysplasia (HD) is a common orthopedic problem in young dogs. To decrease the laxity of the hip joint related to HD, the surgical treatments are recommended to increase femoral head coverage. ACEtabular rim eXtension (ACE-X) using a personalized 3-dimensional printed titanium shelf implant is a new surgical treatment to increase femoral head coverage and decrease laxity of the dysplastic hip joint, however, the efficacy is less know. Client-owned dogs older than 6 months with clinical signs of coxofemoral joint subluxation and radiographic evidence of HD with no or mild osteoarthritis (OA) were included. The Norberg angle (NA), linear percentage of femoral head overlap (LFO), and percentage of femoral head coverage (PC) were investigated radiographically and with computed tomography (CT) before and after surgery. OA was graded (scores 0-3) according to the maximum osteophyte size measured on CT. In addition, joint laxity (Ortolani) test results, gait analysis, and the Helsinki chronic pain index (HCPI) questionnaire were obtained at preoperative, immediately postoperative and at 1.5- and 3-month evaluations. Acetabular rim extension was performed in 61 hips of 34 dogs; NA, LFO, and PC were significantly higher immediately postoperatively and at the 1.5- and 3-month follow-up examinations compared with preoperative values (p < 0.05). Osteophyte size gradually increased over time (p < 0.05). The OA score significantly increased between preoperatively and directly postoperatively, and between preoperatively and at 3-month follow-up (p < 0.05). The laxity test normalized in 59 out of 61 hips after surgery, and the HCPI questionnaire showed that the pain score decreased significantly at 1.5 and 3 months, postoperatively. The force plate showed no significant improvement during the 3 months follow-up. Although pain reduction by the implant was unclear in short-term results, a personalized shelf implant significantly increased femoral head coverage and eliminated subluxation of the dysplastic hip joint. Further studies are required to study the long-term efficacy of gait, chronic pain, and progression of osteoarthritis.

4.
Int J Comput Assist Radiol Surg ; 18(12): 2307-2318, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37219804

RESUMO

INTRODUCTION: The use of MRI scans for pre-operative surgical planning of forearm osteotomies provides additional information of joint cartilage and soft tissue structures and reduces radiation exposure in comparison with the use of CT scans. In this study, we investigated whether using 3D information obtained from MRI with and without cartilage information leads to a different outcome of pre-operative planning. METHODS: Bilateral CT and MRI scans of the forearms of 10 adolescent and young adult patients with a unilateral bone deformation were acquired in a prospective study. The bones were segmented from CT and MRI, and cartilage only from MRI. The deformed bones were virtually reconstructed, by registering the joint ends to the healthy contralateral side. An optimal osteotomy plane was determined that minimized the distance between the resulting fragments. This process was performed in threefold: using the CT and MRI bone segmentations, and the MRI cartilage segmentations. RESULTS: Comparison of bone segmentation from MRI and CT scan resulted in a 0.95 ± 0.02 Dice Similarity Coefficient and 0.42 ± 0.07 mm Mean Absolute Surface Distance. All realignment parameters showed excellent reliability across the different segmentations. However, the mean differences in translational realignment between CT and MRI bone segmentations (4.5 ± 2.1 mm) and between MRI bone and MRI bone and cartilage segmentations (2.8 ± 2.1 mm) were shown to be clinically and statistically significant. A significant positive correlation was found between the translational realignment and the relative amount of cartilage. CONCLUSION: This study indicates that although bone realignment remained largely similar when using MRI with and without cartilage information compared to using CT, the small differences in segmentation could induce statistically and clinically significant differences in the osteotomy planning. We also showed that endochondral cartilage might be a non-negligible factor when planning osteotomies for young patients.


Assuntos
Cartilagem Articular , Antebraço , Adulto Jovem , Adolescente , Humanos , Antebraço/cirurgia , Reprodutibilidade dos Testes , Estudos Prospectivos , Tomografia Computadorizada por Raios X/métodos , Imageamento por Ressonância Magnética/métodos , Osteotomia/métodos
5.
J Bone Joint Surg Am ; 105(9): 700-712, 2023 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-36947661

RESUMO

BACKGROUND: Preoperative planning of lower-limb realignment surgical procedures necessitates the quantification of alignment parameters by using landmarks placed on medical scans. Conventionally, alignment measurements are performed on 2-dimensional (2D) standing radiographs. To enable fast and accurate 3-dimensional (3D) planning of orthopaedic surgery, automatic calculation of the lower-limb alignment from 3D bone models is required. The goal of this study was to develop, validate, and apply a method that automatically quantifies the parameters defining lower-limb alignment from computed tomographic (CT) scans. METHODS: CT scans of the lower extremities of 50 subjects were both manually and automatically segmented. Thirty-two manual landmarks were positioned twice on the bone segmentations to assess intraobserver reliability in a subset of 20 subjects. The landmarks were also positioned automatically using a shape-fitting algorithm. The landmarks were then used to calculate 25 angles describing the lower-limb alignment for all 50 subjects. RESULTS: The mean absolute difference (and standard deviation) between repeat measurements using the manual method was 2.01 ± 1.64 mm for the landmark positions and 1.05° ± 1.48° for the landmark angles, whereas the mean absolute difference between the manual and fully automatic methods was 2.17 ± 1.37 mm for the landmark positions and 1.10° ± 1.16° for the landmark angles. The manual method required approximately 60 minutes of manual interaction, compared with 12 minutes of computation time for the fully automatic method. The intraclass correlation coefficient showed good to excellent reliability between the manual and automatic assessments for 23 of 25 angles, and the same was true for the intraobserver reliability in the manual method. The mean for the 50 subjects was within the expected range for 18 of the 25 automatically calculated angles. CONCLUSIONS: We developed a method that automatically calculated a comprehensive range of 25 measurements that defined lower-limb alignment in considerably less time, and with differences relative to the manual method that were comparable to the differences between repeated manual assessments. This method could thus be used as an efficient alternative to manual assessment of alignment. LEVEL OF EVIDENCE: Diagnostic Level III . See Instructions for Authors for a complete description of levels of evidence.


Assuntos
Extremidade Inferior , Tomografia Computadorizada por Raios X , Humanos , Reprodutibilidade dos Testes , Extremidade Inferior/diagnóstico por imagem , Radiografia , Algoritmos
6.
Eur J Pediatr ; 182(2): 501-511, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36472650

RESUMO

Osteoporosis is a condition of increased bone fragility associated with fractures. Apart from primary genetic osteoporotic conditions, secondary osteoporosis in children is being increasingly recognized. As a result, there is growing interest in its prevention and treatment. Important goals of care are to prevent fractures, increase bone mass and trabecular and cortical thickness, reshape vertebral fractures, prevent (or correct) skeletal deformities, and improve mobility, independence, and quality of life. Secondary pediatric osteoporosis is often of multifactorial origin since affected children frequently have more than one acquired factor that is detrimental to bone health. Typical conditions causing osteoporosis are leukemias, progressive muscle or neurological disorders, as well as chronic inflammatory conditions and their treatment. Management of children with osteoporosis involves a multidisciplinary team involving pediatric experts from different subspecialties. With regard to prevention and early intervention, it is important to provide optimal management of any underlying systemic conditions including avoidance, or dose-reduction, of osteotoxic medications. Basic supporting life-style measures, such as appropriate nutrition, including adequate calcium intake and vitamin D, and physical activity are recommended, where possible. When pediatric treatment criteria for osteoporosis are met, antiresorptive drugs constitute the first pharmacological line treatment. CONCLUSION: This clinical review focuses on the prevention, treatment, and follow-up of children with, or at risk of developing, osteoporosis and the transition from pediatric to adult care. WHAT IS KNOWN: • Osteoporosis and associated fractures can cause significant morbidity and reduce the quality of life. • The developing skeleton has huge potential for recovery and reshaping, thus early detection of fractures, assessment of recovery potential, and treatment of children with osteoporosis can prevent future fractures, deformities, and scoliosis, improve function and mobility, and reduce pain. WHAT IS NEW: • Osteoporosis in children and adolescents requires a multidisciplinary approach with a thorough assessment of recovery potential, and indication for therapy should be personalized. • Although bisphosphonates still represent the drug most commonly used to increase bone mass, improve mobility, and reduce pain and recurrence of fractures, new agents are being developed and could be beneficial in children with specific conditions.


Assuntos
Conservadores da Densidade Óssea , Osteoporose , Transição para Assistência do Adulto , Adulto , Criança , Adolescente , Humanos , Qualidade de Vida , Osteoporose/diagnóstico , Osteoporose/etiologia , Osteoporose/terapia , Conservadores da Densidade Óssea/uso terapêutico , Vitamina D/uso terapêutico , Densidade Óssea , Difosfonatos/uso terapêutico
7.
Acta Orthop ; 93: 296-302, 2022 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-35129201

RESUMO

BACKGROUND AND PURPOSE: The Chiari osteotomy was a regular treatment for developmental hip dysplasia before it became mostly reserved as a salvage therapy. However, the long-term survival of the Chiari osteotomy has not been systematically investigated. We investigated the survival time of the Chiari osteotomy until conversion to total hip arthroplasty (THA) in patients with primary hip dysplasia, and factors which correlated with survival, complications, and the improvement measured in radiographic parameters. PATIENTS AND METHODS: Studies were included when describing patients (> 16 years) with primary hip dysplasia treated with a Chiari osteotomy procedure with 8 years' follow-up. Data on patient characteristics, indications, complications, radiographic parameters, and survival time (endpoint: conversion to THA) were extracted. RESULTS: 8 studies were included. The average postoperative center-edge angle, acetabular head index, and Sharp angle were generally restored within the target range. 3 studies reported Kaplan-Meier survival rates varying from 96% at 10 years to 72% at 20 years' follow-up. Negative survival factors were high age at intervention and pre-existing advanced preoperative osteoarthritis. Moreover, reported complications ranged between 0% and 28.3 %. INTERPRETATION: The Chiari osteotomy has high reported survival rates and is capable of restoring radiographic hip parameters to healthy values. When carefully selected by young age, and a low osteoarthritis score, patients benefit from the Chiari osteotomy with satisfactory survival rates. The position of the Chiari osteotomy in relation to the periacetabular osteotomies should be further (re-)explored.


Assuntos
Luxação Congênita de Quadril , Luxação do Quadril , Osteoartrite do Quadril , Osteoartrite , Acetábulo/cirurgia , Adolescente , Adulto , Seguimentos , Luxação do Quadril/cirurgia , Luxação Congênita de Quadril/complicações , Luxação Congênita de Quadril/cirurgia , Humanos , Osteoartrite/etiologia , Osteoartrite do Quadril/complicações , Osteotomia/métodos , Estudos Retrospectivos , Resultado do Tratamento
8.
Sci Rep ; 12(1): 3032, 2022 02 22.
Artigo em Inglês | MEDLINE | ID: mdl-35194117

RESUMO

The concept of a novel patient-specific 3D-printed shelf implant should be evaluated in a relevant large animal model with hip dysplasia. Therefore, three dogs with radiographic bilateral hip dysplasia and a positive subluxation test underwent unilateral acetabular augmentation with a 3D-printed dog-specific titanium implant. The contralateral side served as control. The implants were designed on CT-based pelvic bone segmentations and extended the dysplastic acetabular rim to increase the weight bearing surface without impairing the range of motion. Outcome was assessed by clinical observation, manual subluxation testing, radiography, CT, and gait analysis from 6 weeks preoperatively until termination at 26 weeks postoperatively. Thereafter, all hip joints underwent histopathological examination. The implantation and recovery from surgery was uneventful. Clinical subluxation tests at the intervention side became negative. Imaging showed medialization of the femoral head at the intervention side and the mean (range) CE-angle increased from 94° (84°-99°) preoperative to 119° (117°-120°) postoperative. Gait analysis parameters returned to pre-operative levels after an average follow-up of 6 weeks. Histology showed a thickened synovial capsule between the implant and the femoral head without any evidence of additional damage to the articular cartilage compared to the control side. The surgical implantation of the 3D shelf was safe and feasible. The patient-specific 3D-printed shelf implants restored the femoral head coverage and stability of dysplastic hips without complications. The presented approach holds promise to treat residual hip dysplasia justifying future veterinary clinical trials to establish clinical effectiveness in a larger cohort to prepare for translation to human clinic.


Assuntos
Luxação do Quadril/diagnóstico por imagem , Luxação do Quadril/terapia , Impressão Tridimensional , Próteses e Implantes , Desenho de Prótese/métodos , Acetábulo , Animais , Modelos Animais de Doenças , Cães , Estudos de Viabilidade , Marcha , Luxação do Quadril/fisiopatologia , Humanos , Ossos Pélvicos , Segurança , Titânio , Tomografia Computadorizada por Raios X/métodos
9.
Radiology ; 303(2): 425-432, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-35076302

RESUMO

Background The current widely applied Graf classification used on US images for developmental dysplasia of the hip in infants does not enable prediction of the development and outcome of well-centered stable dysplastic hips (Graf type II). Purpose To use statistical shape modeling on US images to identify acetabular shape characteristics of Graf type II hips, which enable prediction of the development of Graf type II hips, and to identify which hips benefit from Pavlik harness treatment. Materials and Methods In this secondary analysis of a prospective multicenter randomized trial on treatment of 104 infants aged 3-4 months with Graf type IIb or IIc hip dysplasia conducted between 2009 and 2015, a statistical shape model was developed on baseline US images. With multivariable logistic regression adjusted for infant sex and treatment (Pavlik harness treatment vs active observation), shape modes were correlated with the outcomes of persistent hip dysplasia on US images (α angle <60°) after 12-week follow-up and residual hip dysplasia on pelvic radiographs (Tönnis classification: acetabular index greater than 2 standard deviations) around 1 year of age. An interaction term (treatment with mode) was used to investigate if this result depended on treatment. Results Baseline US images were available in 97 infants (mean age, 3.37 years ± 0.43 [standard deviation]; 89 [92%] girls; 90 cases of Graf type IIb hip dysplasia; 52 cases treated with Pavlik harness). Shape modes 2 and 3 of the statistical shape modeling were associated with persistent hip dysplasia on US images (odds ratio [OR] = 0.43; P = .007 and OR = 2.39; P = .02, respectively). Mode 2 was also associated with residual hip dysplasia on pelvic radiographs (OR = 0.09; P = .002). The interaction term remained significant after multivariable analysis, indicating that Pavlik harness treatment was beneficial in patients with negative mode 2 values (OR = 12.46; P = .01). Conclusion Statistical shape modeling of US images of infants with Graf type II dysplastic hips predicted which hips developed to normal or remained dysplastic and identified hips that benefited from Pavlik harness treatment. © RSNA, 2022.


Assuntos
Luxação Congênita de Quadril , Luxação do Quadril , Pré-Escolar , Feminino , Luxação Congênita de Quadril/diagnóstico por imagem , Luxação Congênita de Quadril/terapia , Articulação do Quadril/diagnóstico por imagem , Humanos , Lactente , Masculino , Aparelhos Ortopédicos , Estudos Prospectivos , Resultado do Tratamento , Ultrassonografia
10.
Acta Orthop ; 92(5): 608-614, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34180749

RESUMO

Background and purpose - Involvement of patient organizations is steadily increasing in guidelines for treatment of various diseases and conditions for better care from the patient's viewpoint and better comparability of outcomes. For this reason, the Osteogenesis Imperfecta Federation Europe and the Care4BrittleBones Foundation convened an interdisciplinary task force of 3 members from patient organizations and 12 healthcare professionals from recognized centers for interdisciplinary care for children and adults with osteogenesis imperfecta (OI) to develop guidelines for a basic roadmap to surgery in OI.Methods - All information from 9 telephone conferences, expert consultations, and face-to-face meetings during the International Conference for Quality of Life for Osteogenesis Imperfecta 2019 was used by the task force to define themes and associated recommendations.Results - Consensus on recommendations was reached within 4 themes: the interdisciplinary approach, the surgical decision-making conversation, surgical technique guidelines for OI, and the feedback loop after surgery.Interpretation - The basic guidelines of this roadmap for the interdisciplinary approach to surgical care in children and adults with OI is expected to improve standardization of clinical practice and comparability of outcomes across treatment centers.


Assuntos
Tomada de Decisão Clínica , Osteogênese Imperfeita/cirurgia , Equipe de Assistência ao Paciente , Procedimentos de Cirurgia Plástica/métodos , Humanos , Qualidade de Vida , Inquéritos e Questionários
11.
J Bone Joint Surg Am ; 103(6): 489-496, 2021 03 17.
Artigo em Inglês | MEDLINE | ID: mdl-33443965

RESUMO

BACKGROUND: The introduction of stem cell transplantation has improved life expectancy and cognitive outcome in patients with mucopolysaccharidosis I, but this condition remains associated with substantial residual disease in several parts of the body. Many patients have hip dysplasia with progressive medial flattening of the femoral head. Quantitative evidence on the effect of surgery on remodeling to sphericity of flattened femoral heads is lacking. In the present study, we used statistical shape modeling to quantify the effect of hip surgery on the sphericity of the femoral head in patients with mucopolysaccharidosis I. METHODS: We performed a retrospective case control study involving a series of 23 patients with hip dysplasia due to mucopolysaccharidosis I. Surgery was not offered to the first 11 children (control group). Following a change in treatment protocol, the next 12 children underwent bilateral proximal femoral varus derotation osteotomy and Pemberton osteotomy for the treatment of acetabular dysplasia with progressive femoral head flattening (surgery group). The surgery and control groups were compared with a reference group of patients with normal hips. Statistical shape modeling was used to quantify the shape of the femoral head (i.e., flattening and/or roundness of the epiphysis). RESULTS: The mean age at the time of stem cell transplantation in the surgery and control groups was comparable (1.2 years). The mean age at the time of surgical intervention was 5.5 years, and mean duration of postoperative follow-up was 3.3 years. Statistical shape modeling showed variations within the total group in terms of medial indentation, width, height, and sphericity of the femoral heads. In contrast to the progressive femoral head flattening in the control group, the surgery group showed improvement of the sphericity of the femoral head after surgery. The overall shape characteristics of the femoral head in the surgery group were similar to those of the reference group of patients with normal hips. CONCLUSIONS: To our knowledge, this is the first study in patients with mucopolysaccharidosis I that has shown quantitative remodeling of the dysplastic, flattened femoral head to normal sphericity after increasing containment of the femoral head. LEVEL OF EVIDENCE: Therapeutic Level III. See Instructions for Authors for a complete description of levels of evidence.


Assuntos
Cabeça do Fêmur/cirurgia , Articulação do Quadril/cirurgia , Mucopolissacaridose I/cirurgia , Osteotomia/métodos , Adolescente , Fatores Etários , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Estudos Retrospectivos , Transplante de Células-Tronco , Resultado do Tratamento
12.
Front Vet Sci ; 8: 791434, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34977223

RESUMO

Hip dysplasia (HD) is common in both humans and dogs. This interconnection is because humans and dogs descended from a common ancestor and therefore have a similar anatomy at micro- and macroscopic levels. Furthermore, dogs are the animals of choice for testing new treatments for human hip dysplasia and orthopedic surgery in general. However, little literature exists comparing HD between the two species. Therefore, the aim of this review is to describe the anatomy, etiology, pathogenesis, diagnostics, and treatment of HD in humans and dogs. HD as an orthopedic condition has many common characteristics in terms of etiology and pathogenesis and most of the differences can be explained by the evolutionary differences between dogs and humans. Likewise, the treatment of HD shows many commonalities between humans and dogs. Conservative treatment and surgical interventions such as femoral osteotomy, pelvic osteotomy and total hip arthroplasty are very similar between humans and dogs. Therefore, future integration of knowledge and experiences for HD between dogs and humans could be beneficial for both species.

13.
Acta Orthop ; 91(4): 383-389, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32237929

RESUMO

Background and purpose - The shelf arthroplasty was the regular treatment for residual hip dysplasia before it was substituted by the peri-acetabular osteotomy. Yet, evidence regarding the survival of shelf arthroplasty surgery has never been systematically documented. Hence, we investigated the survival time of the shelf procedure until revision to THA in patients with primary hip dysplasia. Factors that influenced survival and complications were also examined, along with the accuracy of correcting radiographic parameters to characterize dysplasia.Material and methods - The inclusion criteria were studies of human adolescents and adults (> 16 years) with primary or congenital hip dysplasia who were treated with a shelf arthroplasty procedure. Data were extracted concerning patient characteristics, survival time, complications, operative techniques, and accuracy of correcting radiographic parameters.Results - Our inclusion criteria were applicable to 9 studies. The average postoperative Center-Edge Angle and Acetabular Head Index were mostly within target range, but large variations were common. Kaplan-Meier curves (endpoint: conversion to THA) varied between 37% at 20 years' follow-up and 72% at 35 years' follow-up. Clinical failures were commonly associated with pain and radiographic osteoarthritis. Only minor complications were reported with incidences between 17% and 32%.Interpretation - The shelf arthroplasty is capable of restoring normal radiographic hip parameters and is not associated with major complications. When carefully selected on minimal osteoarthritic changes, hip dysplasia patients with a closed triradiate cartilage may benefit from the shelf procedure with satisfactory survival rates. The importance of the shelf arthroplasty in relation to peri-acetabular osteotomies needs to be further (re)explored.


Assuntos
Artroplastia/métodos , Cabeça do Fêmur/cirurgia , Luxação Congênita de Quadril/cirurgia , Acetábulo/cirurgia , Adolescente , Adulto , Humanos , Resultado do Tratamento , Adulto Jovem
14.
Am J Med Genet A ; 176(1): 225-229, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29130651

RESUMO

A mutation in GDF6 was recently found to underlie a multiple synostoses syndrome. In this report, we describe the second family with GDF6-related multiple synostoses syndrome (SYNS4), caused by a novel c.1287C>A/p.Ser429Arg mutation in GDF6. In addition to synostoses of carpal and/or tarsal bones, at least 6 of 10 affected patients in this family have been diagnosed with mild to moderate hearing loss. In four of them otosclerosis was said to be present, one patient had hearing loss due to severe stapes fixation at the age of 6 years, providing evidence that hearing loss in the GDF6-related multiple synostoses syndrome can be present in childhood. Two others had surgery for stapes fixation at adult age. We hypothesize that, identical to the recently published GDF6-related multiple synostoses family, the p.Ser429Arg mutation also leads to a gain of function. The previously reported c.1330T>A/pTyr444Asn mutation was located in a predicted Noggin and receptor I interacting domain and the gain of function was partly due to resistance of the mutant GDF6 to the BMP-inhibitor Noggin. The results in our family show that mutations predicting to affect the type II receptor interface can lead to a similar phenotype and that otosclerosis presenting in childhood can be part of the GDF6-related multiple synostoses syndrome.


Assuntos
Anormalidades Múltiplas , Fator 6 de Diferenciação de Crescimento/genética , Mutação , Fenótipo , Sinostose/diagnóstico , Sinostose/genética , Idoso , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Estudos de Associação Genética , Humanos , Masculino , Linhagem , Radiografia
15.
J Bone Joint Surg Am ; 98(5): 386-95, 2016 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-26935461

RESUMO

BACKGROUND: Dysostosis multiplex contributes substantially to morbidity in patients with Hurler syndrome (mucopolysaccharidosis type I Hurler phenotype [MPS I-H]), even after successful hematopoietic stem cell transplantation (HSCT). One of the hallmarks of dysostosis multiplex in MPS I-H is hip dysplasia, which often requires surgical intervention. We sought to describe in detail the course of hip dysplasia in this group of patients, as assessed by radiographic analysis, and to identify potential outcome predictors. METHODS: Longitudinal data were obtained from digitally scored pelvic radiographs of patients with MPS I-H using OrthoGon software for parameters including, but not limited to, the acetabular index, migration percentage, Smith ratio, and neck-shaft angle. Scoring was performed independently by two blinded observers. Additional information on genotype, enzyme replacement therapy pre-HSCT, donor chimerism, and enzyme activity post-HSCT were obtained. General trends and potential correlations were calculated with mixed-model statistics. RESULTS: Fifty-two patients (192 radiographs) were included in this analysis. Intraobserver and interobserver variation analysis showed an intraclass correlation coefficient ranging from 0.78 to 1.00. Among the twenty-one patients with follow-up beyond the age of five years, the acetabular index was in the range of severe hip dysplasia in up to 86% of the patients. Severe coxa valga was seen in 91% of the patients. Lateral and superior femoral displacement were highly prevalent, with the migration percentage outside the reference range in up to 96% of the patients. Finally, anterior pelvic tilt increased with age (p = 0.001). No correlations were identified between clinical parameters and radiographic findings. CONCLUSIONS: Our study shows that progressive acetabular dysplasia as well as coxa valga and hip displacement are highly prevalent and progressive over time in patients with MPS I-H, despite successful HSCT. These data may provide essential natural history determinations for the assessment of efficacy of new therapeutic strategies aimed at improving skeletal outcomes in patients with MPS I-H.


Assuntos
Progressão da Doença , Transplante de Células-Tronco Hematopoéticas , Luxação do Quadril/fisiopatologia , Mucopolissacaridose I/terapia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Seguimentos , Luxação do Quadril/diagnóstico por imagem , Luxação do Quadril/etiologia , Humanos , Masculino , Modelos Estatísticos , Mucopolissacaridose I/complicações , Variações Dependentes do Observador , Prognóstico , Radiografia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Método Simples-Cego , Resultado do Tratamento , Adulto Jovem
16.
Fam Syst Health ; 31(2): 218-29, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23731473

RESUMO

Ultrasound screening for developmental dysplasia of the hip (DDH) is an innovation in preventive child health care in the Netherlands. Parental participation in the screening will be essential for the success of implementation of the screening. The aim of the current study was to investigate whether psychosocial factors (attitude, subjective norm, self-efficacy, perceived susceptibility, perceived severity, perceived effectiveness) predicted parental participation in the screening. A cross-sectional survey was conducted. Using a questionnaire, several background variables (organization, sociodemographic variables, and knowledge) and psychosocial variables were collected. Blockwise logistic regression was used to analyze the relations. A total of 703 questionnaires of participating parents (response 61.7%) and 393 questionnaires of nonparticipating parents were received (response 37.2%). When controlling for the background variables, attitude, subjective norm, self-efficacy, perceived susceptibility, and perceived effectiveness predicted parental participation in the screening (p < .05). Perceived severity of the dysplasia did not predict participation (p > .05). Psychosocial determinants influenced parental participation in the ultrasound screening for DDH. Emphasizing the positive aspects of the screening, highlighting the effectiveness, removing practical barriers, and being conscious of the influential role of child health care professionals on decision making are areas to focus on when organizing the ultrasound screening for DDH. Health care policy decision makers and child health care professionals should consider these determinants in order to stimulate parental participation.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Luxação Congênita de Quadril/diagnóstico por imagem , Pais/psicologia , Adulto , Comportamento Cooperativo , Estudos Transversais , Feminino , Previsões , Comportamentos Relacionados com a Saúde , Humanos , Lactente , Modelos Logísticos , Masculino , Países Baixos , Inquéritos e Questionários , Ultrassonografia
17.
J Child Health Care ; 16(2): 178-89, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22363043

RESUMO

Prior research has shown ultrasound (US) screening for developmental dysplasia of the hip (DDH) in preventive child health care to be more effective than the current screening method. In the present study, 3-month-old infants were screened for DDH with US. The objective of this study was to examine parental satisfaction with the screening and determinants that affect satisfaction. Parental satisfaction was measured using a questionnaire. Independent variables included socio-demographic determinants, structure, process and outcome-related determinants and the meeting of expectations. Satisfaction with the screening was high. Parents who perceived the screener as competent, had enough time to ask questions, perceived the proceeding as fluent, perceived a low burden on their infant and whose expectations were met, were more likely to be satisfied. Satisfaction was influenced by process-related factors and not by factors related to the structure and the outcome of the screening. Good information provision before the screening and communication during the screening are means by which parental satisfaction can be influenced positively.


Assuntos
Serviços de Saúde da Criança , Luxação Congênita de Quadril/diagnóstico por imagem , Programas de Rastreamento/métodos , Pais/psicologia , Satisfação do Paciente/estatística & dados numéricos , Adulto , Feminino , Seguimentos , Humanos , Lactente , Masculino , Inquéritos e Questionários , Ultrassonografia
18.
Health Commun ; 27(2): 186-93, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-21843090

RESUMO

The use of ultrasound (US) screening for developmental dysplasia of the hip (DDH) is an innovation in preventive child health care in the Netherlands. What is not known is whether parents will accept this screening method and will actually participate in it. It is widely known that health behaviors can be influenced by the framing of information. The objective of this study was to examine the influence of a gain- versus loss-framed brochure on parental participation in US screening for DDH. In total, 4150 parents of infants born between August 2007 and December 2008 received either a gain-framed or a loss-framed brochure. Parents could participate in the screening when their infant was 3 months old. The participation rate in the US screening was 74.3%. In contrast to the predictions of prospect theory, the results indicated that parents who had received the gain-framed message were more likely to participate in the screening compared to parents who had received the loss-framed message. This effect may be explained by the low risk perception of parents and by the possibility that the screening was perceived as a health-affirming behavior rather than an illness-detecting behavior. To increase participation rates, it is recommended that parents be informed about the positive aspects of partaking in screening for DDH.


Assuntos
Luxação Congênita de Quadril/diagnóstico por imagem , Folhetos , Pais/psicologia , Aceitação pelo Paciente de Cuidados de Saúde , Adulto , Distribuição de Qui-Quadrado , Feminino , Humanos , Lactente , Modelos Logísticos , Masculino , Países Baixos , Comunicação Persuasiva , Inquéritos e Questionários , Ultrassonografia
19.
J Inherit Metab Dis ; 34(3): 657-69, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21416194

RESUMO

OBJECTIVE: The introduction of hematopoietic stem cell transplantation (HSCT) has significantly improved the life-span of Hurler patients (mucopolysaccharidosis type I-H, MPS I-H). Yet, the musculoskeletal manifestations seem largely unresponsive to HSCT. In order to facilitate evidence based management, the aim of the current study was to give a systematic overview of the orthopaedic complications and motor functioning of Hurler's patients after HSCT. METHODS: A systematic review was conducted of the medical literature published from January 1981 to June 2010. Two reviewers independently assessed all eligible citations, as identified from the Pubmed and Embase databases. A pre-developed data extraction form was used to systematically collect information on the prevalence of radiological and clinical signs, and on the orthopaedic treatments and outcomes. RESULTS: A total of 32 studies, including 399 patient reports were identified. The most frequent musculoskeletal abnormalities were odontoid hypoplasia (72%), thoracolumbar kyphosis (81%), genu valgum (70%), hip dysplasia (90%) and carpal tunnel syndrome (63%), which were often treated surgically during the first decade of life. The overall complication rate of surgical interventions was 13.5%. Motor functioning was further hampered due to reduced joint mobility, hand dexterity, motor development and longitudinal growth. CONCLUSION: Stem cell transplantation does not halt the progression of a large range of disabling musculoskeletal abnormalities in Hurler's disease. Although prospective data on the quantification, progression and treatment of these deformities were very limited, early surgical intervention is often advocated. Prospective data collection will be mandatory to achieve better evidence on the effect of treatment strategies.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Mucopolissacaridose I/terapia , Ortopedia/métodos , Crescimento e Desenvolvimento/fisiologia , Transplante de Células-Tronco Hematopoéticas/métodos , Humanos , Atividade Motora/fisiologia , Mucopolissacaridose I/complicações , Mucopolissacaridose I/fisiopatologia , Desenvolvimento Musculoesquelético/fisiologia , Resultado do Tratamento
20.
Pediatr Radiol ; 40(11): 1794-9, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20552186

RESUMO

BACKGROUND: Transinguinal sonography can be used to demonstrate the position of the femoral head after reduction of a dislocated hip. OBJECTIVE: To determine whether transinguinal sonography can replace radiography and CT in the follow-up after reduction of a hip dislocation? MATERIALS AND METHODS: Thirty-three children with 39 dislocated hips were followed up with sonography after reduction and immobilization in a spica cast. In cases of an abnormal position a CT scan was advised. A pelvic radiograph at the end of treatment served as an indicator that no dislocations were missed during the previous sonographic examinations. RESULTS: The repositioned hips were examined on 138 occasions. Twenty-four examinations were abnormal and CT scanning was performed on 11 occasions. In four children additional CT was done because a recurrent dislocation was suspected or because sonography was difficult to perform. No dislocations were demonstrated. In five children a recurrent dislocation was suspected, on one or more occasions. In all but one child a CT scan was performed that confirmed the dislocation. CONCLUSION: Transinguinal sonography is well-suited to demonstrate a normal position of the femoral head in a spica cast. Transinguinal sonography decreases the number of radiographs and CT scans and reduces the exposure to ionizing radiation.


Assuntos
Moldes Cirúrgicos , Cabeça do Fêmur/diagnóstico por imagem , Cabeça do Fêmur/cirurgia , Luxação do Quadril/diagnóstico por imagem , Luxação do Quadril/cirurgia , Canal Inguinal/diagnóstico por imagem , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Prognóstico , Resultado do Tratamento , Ultrassonografia
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