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1.
J Surg Orthop Adv ; 29(3): 141-148, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33044153

RESUMO

Treatment of infantile tibia vara or Blount disease (ITV/BD) in patients < 3 years old and Langenskiold stages I-III consists of orthosis and, in relapsing cases, proximal tibial osteotomy and/or proximal tibial guided growth laterally with a tension band plate. Our aim was to evaluate the results of treatments in a consecutive group. After Institutional Review Board approval, data from 2002 to 2018 were collected. Thirty-nine knees (average age 22.4 months) with ITV/BD were treated with orthoses, and 10 knees failed. Six knees showed hyperintense T2-weighted signal in the medial proximal tibial epiphyseal cartilage on magnetic resonance imaging. Three of six knees with tibial osteotomy failed and underwent guided growth. Tibial plateau slopes were abnormal medially from the ITV/BD and laterally from the guided growth (triangular physis and depressed plateau deformities) because of factors such as orthotic treatment, tibial osteotomy, magnetic resonance imaging "physis severity score," and guided growth. (Journal of Surgical Orthopaedic Advances 29(3):141-148, 2020).


Assuntos
Doenças do Desenvolvimento Ósseo , Osteocondrose , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/cirurgia , Pré-Escolar , Humanos , Doença Iatrogênica , Lactente , Osteocondrose/congênito , Osteocondrose/diagnóstico por imagem , Osteocondrose/cirurgia , Tíbia/diagnóstico por imagem , Tíbia/cirurgia
2.
Rinsho Shinkeigaku ; 60(9): 609-613, 2020 Sep 29.
Artigo em Japonês | MEDLINE | ID: mdl-32779596

RESUMO

A 23-year-old man admitted to our hospital with headache and dysarthria. Head MRI showed multiple acute cerebral infarctions in the right posterior circulation. Atlantoaxial dislocation, atlas dysplasia and thrombotic occlusion of right vertebral artery (VA), and blood flow disruption due to cervical rotation was observed. The axial dental process bordered to the right VA, and repeated contact stimulation by cervical rotation may cause intimal damage resulting in thrombotic occlusion. In this case, various systemic malformations such as atrial septal defect, atlas posterior arch hypoplasia, bovine left common carotid bifurcation malformation, double inferior vena cava and horseshoe kidney may have been congenital syndromes. Atlantoaxial dislocation may be an important and under-recognized cause of stroke in young adults.


Assuntos
Anormalidades Múltiplas , Arteriopatias Oclusivas/etiologia , Articulação Atlantoaxial , Doenças do Desenvolvimento Ósseo/complicações , Infarto Cerebral/etiologia , Atlas Cervical , Luxações Articulares/complicações , Pescoço/fisiologia , Rotação , Trombose/etiologia , Artéria Vertebral , Adulto , Arteriopatias Oclusivas/diagnóstico por imagem , Articulação Atlantoaxial/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Infarto Cerebral/diagnóstico por imagem , Atlas Cervical/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Humanos , Imageamento Tridimensional , Luxações Articulares/diagnóstico por imagem , Masculino , Síndrome , Trombose/diagnóstico por imagem , Adulto Jovem
3.
J Am Acad Orthop Surg ; 28(16): e696-e705, 2020 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-32769718

RESUMO

Ultrasonography is a valuable tool that can be used in many capacities to evaluate and treat pediatric orthopaedic patient. It has the capability to depict bone, cartilaginous and soft-tissue structures, and provide dynamic information. This technique can be readily applied to a wide range of pediatric conditions, including developmental dysplasia of the hip, congenital limb deficiencies, fracture management, joint effusions, and many other musculoskeletal pathologies. There are many benefits of implementing ultrasonography as a regular tool. It is readily accessible at most centers, and information can be quickly obtained in a minimally invasive way, which limits the need for radiation exposure. Ultrasonography is a safe and reliable tool that pediatric orthopaedic surgeons can incorporate into the diagnosis and management of a broad spectrum of pathology.


Assuntos
Doenças Musculoesqueléticas/diagnóstico por imagem , Pediatria , Ultrassonografia/métodos , Adolescente , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Osso e Ossos/diagnóstico por imagem , Cartilagem/diagnóstico por imagem , Criança , Pré-Escolar , Tecido Conjuntivo/diagnóstico por imagem , Fraturas Ósseas/diagnóstico por imagem , Quadril/diagnóstico por imagem , Humanos , Lactente , Reprodutibilidade dos Testes , Segurança
4.
JBJS Case Connect ; 10(1): e0353, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32224672

RESUMO

CASE: Dysplasia epiphysealis hemimelica (DEH), or Trevor disease, is an abnormal nonmalignant overgrowth of the epiphysis on one side of the body, often confined to one half of a joint of a limb. There is no known etiology or treatment for it. We are reporting the case of a 4.5-year-old boy with osteochondral-like growths on one side of the knee and ankle that could not be controlled by repeated excision. He underwent epiphyseal stapling at the knee and ankle. The regrowth was halted in both locations and has lasted for over 8 years. CONCLUSION: Modulation of physeal growth by stapling can halt the uncontrollable overgrowth of lesions in DEH.


Assuntos
Doenças do Desenvolvimento Ósseo/cirurgia , Fêmur/anormalidades , Fêmur/cirurgia , Lâmina de Crescimento/cirurgia , Procedimentos Ortopédicos/métodos , Tíbia/anormalidades , Tíbia/cirurgia , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Criança , Pré-Escolar , Fêmur/diagnóstico por imagem , Lâmina de Crescimento/diagnóstico por imagem , Humanos , Masculino , Procedimentos Ortopédicos/instrumentação , Grampeamento Cirúrgico , Tíbia/diagnóstico por imagem
5.
Orthop Surg ; 12(3): 770-775, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32301285

RESUMO

OBJECTIVE: To determine the radiographic outcomes following dome or wedge-shaped proximal tibial osteotomy in the management of infantile Blount disease with a particular interest in sagittal alignment of the knee joint. METHOD: Medical records of patients with Langenskiöld stage 2 Blount disease (aged ≤5 years) who underwent surgical correction between January 2005 and November 2019 were retrospectively identified. Patients with metabolic bone disease, bone tumors, prior traumatic fractures, congenital anomalies, inadequate plain films, and incomplete medical documents were excluded. Patient characteristics (e.g. age, gender, and body mass index [BMI]) and surgical characteristics (e.g. side, type of surgery, and follow-up times) were recorded. Antero-posterior (AP) and lateral knee radiographs were analyzed. Data were categorized by surgical technique as dome-shaped proximal tibial osteotomy or wedge-shaped proximal tibial osteotomy. The femorotibial angle (FTA) was used to evaluate the correction angle in varus deformities. Sagittal alignment of the lower limbs using the posterior tibial slope (PTS) angle was measured postoperatively at 3, 6, 12, and 24 months, and at the final follow-up visit. RESULTS: The present study included 72 surgeries of 46 patients who had undergone proximal tibial osteotomy. Twenty-nine (63%) were male. The mean age of patients at the time of surgery was 34.50 months (range, 26-47). The mean weight was 23.11 ± 4.98 kg (mean ± SD); the mean height was 95.33 ± 6.36 cm, and the mean BMI was 25.32 ± 4.36 kg/m2 . The mean duration of follow up was 4.77 ± 2.78 years. Sixty-four patients (88.90%) received dome-shaped proximal osteotomy of the tibia, while 8 (11.10%) received wedge-shaped proximal osteotomy of the tibia. The average FTA of the total correction measured was 29.32° ± 7.98°. The demographic data of the two groups were not significantly different for gender, age, BMI, side follow-up times, and the total correction of varus deformities. In the dome-shaped osteotomy group, the mean correction of the FTA was 29.59° ± 7.45°. The mean degree of the PTS angle was 6.50° at 3 months, 6.38° at 6 months, 5.32° at 12 months, 5.17° at 24 months, and 5.53° at the final follow-up visit. In the wedge-shaped proximal tibial osteotomy group, the mean correction of the FTA was 27.25° ± 11.77°. The PTS was 6.00° at 3 months, 7.50° at 6 months, 7.00° at 12 months, 5.40° at 24 months, and 5.57° at the final follow-up visit. No significant difference was observed in the radiological outcome between surgical techniques. CONCLUSION: Dome and wedge-shaped proximal tibial osteotomies did not demonstrate significant differences in the PTS angle in children with Blount disease.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/cirurgia , Articulação do Joelho/diagnóstico por imagem , Osteocondrose/congênito , Osteotomia/métodos , Doenças do Desenvolvimento Ósseo/fisiopatologia , Pré-Escolar , Feminino , Humanos , Articulação do Joelho/cirurgia , Masculino , Osteocondrose/diagnóstico por imagem , Osteocondrose/fisiopatologia , Osteocondrose/cirurgia , Estudos Retrospectivos
7.
Lancet Child Adolesc Health ; 4(4): 281-289, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-32119840

RESUMO

BACKGROUND: Hutchinson-Gilford progeria syndrome (termed progeria in this Article) is a rare sporadic genetic disorder. One early clinical manifestation of progeria is abnormal skeletal growth, yet this growth has not been fully characterised. We aimed to characterise the skeletal maturation and long-bone growth patterns of patients with the clinical phenotype of progeria. METHODS: For this retrospective study, we reviewed skeletal surveys of patients (aged <20 years) with progeria obtained over a 9·5-year period. Most surveys included radiographs of the hands and long bones (humeri, radii, ulnas, tibias, and fibulas). Bone ages of these patients were estimated by the standards of Greulich and Pyle. Following the established methods for studying long-bone growth, the study cohort was separated into two overlapping age groups: longitudinal bone length measurements were made between physes for the childhood group (aged 12 years or younger) and from the upper margins of the proximal to the lower margin of the distal ossified epiphyses for the adolescent group (aged 10 years or older). Bone age estimates and bone length measurements were plotted against the chronological age of patients and compared with reference standards. Statistical analyses were based on mixed models. FINDINGS: 85 patients with progeria and 250 skeletal surveys were included in our study. For both sexes, bone age estimates showed a more advanced skeletal maturation rate throughout all chronological ages than the normal rate of 1 (p<0·0001), with the rate of maturation being 1·09 (SE 0·02) for boys and 1·14 (0·02) for girls. Longitudinal long-bone lengths began to deviate from normal standards by age 1-2 years. Growth curves for these long bones plateaued at about half the normal eventual bone length, and the half-life (the time taken to grow to half the eventual bone length) was also about half the time compared with normal standards. INTERPRETATION: Our study established growth curves that might serve as reference standards for skeletal maturation and long-bone growth of patients with the clinical phenotype of progeria. FUNDING: The Progeria Research Foundation, the US National Heart, Lung and Blood Institute, the Dana-Farber Cancer Institute Stop&Shop Pediatric Brain Tumor Program, the US National Center for Research Resources, US National Institutes of Health.


Assuntos
Determinação da Idade pelo Esqueleto/métodos , Desenvolvimento Ósseo/genética , Progéria/genética , Adolescente , Algoritmos , Desenvolvimento Ósseo/fisiologia , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/fisiopatologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Ensaios Clínicos como Assunto , Feminino , Humanos , Lactente , Masculino , Fenótipo , Progéria/diagnóstico por imagem , Progéria/epidemiologia , Progéria/patologia , Radiografia/métodos , Estudos Retrospectivos , Inquéritos e Questionários , Adulto Jovem
8.
Am J Med Genet A ; 182(5): 1249-1254, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32112622

RESUMO

Two children with achondroplasia who developed an abnormal bony outgrowth at the distal radioulnar joint (DRUJ), indistinguishable from an osteochondroma on histology, but the radiographic appearance, location, and asymmetry suggested the rare diagnosis of dysplasia epiphysealis hemimelica (DEH or "Trevor's disease"). One child experienced symptomatic relief with surgical excision and one was observed clinically due to lack of significant symptoms. These are the first presented cases of DEH in achondroplasia, both affecting the DRUJ. Due to the infrequency of DEH, more research is needed to better understand the potential connection to achondroplasia. For management, we suggest shared surgical decision making based on symptoms.


Assuntos
Acondroplasia/genética , Doenças do Desenvolvimento Ósseo/genética , Fêmur/anormalidades , Osteocondroma/genética , Tíbia/anormalidades , Acondroplasia/diagnóstico por imagem , Acondroplasia/fisiopatologia , Acondroplasia/cirurgia , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/fisiopatologia , Doenças do Desenvolvimento Ósseo/cirurgia , Criança , Epífises/diagnóstico por imagem , Epífises/fisiopatologia , Epífises/cirurgia , Feminino , Fêmur/diagnóstico por imagem , Fêmur/fisiopatologia , Fêmur/cirurgia , Humanos , Masculino , Osteocondroma/diagnóstico por imagem , Osteocondroma/fisiopatologia , Osteocondroma/cirurgia , Tíbia/diagnóstico por imagem , Tíbia/fisiopatologia , Tíbia/cirurgia , Articulação do Punho/diagnóstico por imagem , Articulação do Punho/fisiopatologia , Articulação do Punho/cirurgia
9.
BMC Musculoskelet Disord ; 21(1): 167, 2020 Mar 14.
Artigo em Inglês | MEDLINE | ID: mdl-32171273

RESUMO

BACKGROUND: Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease, is a rare skeletal developmental disorder affecting the epiphyses in pediatric patients. DEH is characterized by an asymmetric osteochondral overgrowth arising from either the medial or lateral portion of an epiphysis and usually occurs in the joints of lower limbs, most commonly in the knees and ankles. However, bilateral involvement in an adult is extremely rare, and total knee arthroplasty (TKA) for a patient with DEH has been reported only once before. CASE PRESENTATION: Here, we present a case of bilateral DEH of the knees that caused varus deformity and dysfunction of the lower limbs in a 50-year-old man. TKA was performed for treatment, and the patient had satisfactory function with no angular knee deformity and a normal range of motion after 1 year of follow-up. CONCLUSIONS: The patient in this case exhibited its specific clinical and radiological features of late-term DEH and TKA was proved to be an appropriate procedure for treating the severe deformity caused by this rare disease.


Assuntos
Artroplastia do Joelho/métodos , Doenças do Desenvolvimento Ósseo/cirurgia , Fêmur/anormalidades , Doenças Raras/cirurgia , Tíbia/anormalidades , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Epífises/cirurgia , Fêmur/diagnóstico por imagem , Fêmur/cirurgia , Seguimentos , Humanos , Articulação do Joelho/cirurgia , Masculino , Pessoa de Meia-Idade , Osteoartrite do Joelho/complicações , Radiografia , Amplitude de Movimento Articular , Doenças Raras/complicações , Doenças Raras/diagnóstico por imagem , Tíbia/diagnóstico por imagem , Tíbia/cirurgia , Resultado do Tratamento
10.
Sci Rep ; 10(1): 3187, 2020 02 21.
Artigo em Inglês | MEDLINE | ID: mdl-32081856

RESUMO

The aim of this study was to investigate the modification of gait kinematics before and after orthotic treatment in patients with ITV. Vicon instrumented gait analysis was performed on three patients with ITV, pre and post treatment. Orthoses were applied a total of eighteen participants with ITV who were 25-38 months. 34 extremities were treated and radiographic evidence evaluated before and after orthotic treatment. Treatment duration for orthotic treatment ranged between 11 and 41 (25.9 ± 10.0) months. Only three patients were evaluated in gait analysis due to application difficulties. Three patients kinematic and kinetic instrumented gait analysis were found flatfoot, varus and internal rotation of the foot, hip flexion and external rotation. Study were reported an improvement in gait kinematics after orthotic treatment, in patients with ITV.


Assuntos
Doenças do Desenvolvimento Ósseo/fisiopatologia , Doenças do Desenvolvimento Ósseo/terapia , Marcha/fisiologia , Aparelhos Ortopédicos , Osteocondrose/congênito , Adulto , Fenômenos Biomecânicos , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Criança , Pré-Escolar , Humanos , Lactente , Cinética , Osteocondrose/diagnóstico por imagem , Osteocondrose/fisiopatologia , Osteocondrose/terapia , Pelve/fisiopatologia
11.
BMC Med Genet ; 21(1): 7, 2020 01 07.
Artigo em Inglês | MEDLINE | ID: mdl-31910817

RESUMO

BACKGROUND: Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on clinical and radiological features. This study describes the first prenatal diagnosis of OCS. CASE PRESENTATION: In this case prenatal ultrasound images were suggestive of a serious but non-lethal skeletal dysplasia. Due to the uncertain prognosis the parents were offered Whole Exome Sequencing (WES), which identified a specific gene mutation in the FAMIIIa gene. This mutation had previously been detected in two cases and was lethal in both perinatally. This established the diagnosis, a clear prognosis and allowed informed parental choice regarding ongoing pregnancy management. CONCLUSIONS: This case report supports the use of targeted WES prenatally to confirm the underlying cause and prognosis of sonographically suspected abnormalities.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Citocinas/genética , Diagnóstico Pré-Natal , Sequenciamento Completo do Exoma , Adulto , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/genética , Doenças do Desenvolvimento Ósseo/patologia , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/patologia , Feminino , Humanos , Recém-Nascido , Pais , Gravidez
12.
Am J Obstet Gynecol ; 222(6): 615.e1-615.e9, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31930994

RESUMO

BACKGROUND: In 2014, the Eunice Kennedy Shriver National Institute of Child Health and Human Development Fetal Imaging Workshop consensus recommended that sonograms be offered routinely to all pregnant women. In the absence of another indication, this examination is recommended at 18-22 weeks of gestation. Studies of anomaly detection often focus on pregnancies at risk for anomalies and on the yield of detailed sonography, topics less applicable to counseling low-risk pregnancies about the benefits and limitations of standard sonography. The clinical utility of follow-up sonogram in low-risk pregnancies for the purpose of fetal anomaly detection has not been established. OBJECTIVE: The objective of the study was to evaluate the utility of follow-up standard sonography for anomaly detection among low-risk pregnancies in a nonreferred population. STUDY DESIGN: We performed a retrospective cohort study of singleton pregnancies that underwent standard sonography at 18-21 6/7 weeks of gestation from October 2011 through March 2018 with subsequent delivery of a live-born infant at our hospital. Pregnancies with indications for detailed sonography in our system were excluded to evaluate fetal anomalies first identified with standard sonography. Anomalies were categorized according to the European Registration of Congenital Anomalies and Twins (EUROCAT) system, with confirmation based on neonatal evaluation. Among those with no anomaly detected initially, we evaluated the rate of subsequent detection according to number of follow-up sonograms, gestational age at sonography, organ system(s) affected, and anomaly severity. Statistical analyses were performed using χ2 and a Mantel-Haenszel test. RESULTS: Standard sonography was performed in 40,335 pregnancies at 18-21 6/7 weeks, and 11,770 (29%) had at least 1 follow-up sonogram, with a second follow-up sonogram in 3520 (9%). Major abnormalities were confirmed in 387 infants (1%), with 248 (64%) detected initially and 28 (7%) and 5 (1%) detected on the first and second follow-up sonograms. Detection of residual anomalies on follow-up sonograms was significantly lower than detection on the initial standard examination: 64% on initial examination, 45% for first follow-up, and 45% for second follow-up (P < .01). A larger number of follow-up examinations were required per anomalous fetus detected: 163 examinations per anomalous fetus detected initially, 420 per fetus detected at the first follow-up examination, and 705 per fetus detected at the second follow-up sonogram (P < .01). The number of follow-up examinations to detect each additional anomalous fetus was not affected by gestational age (P = .7). Survival to hospital discharge was significantly lower for fetuses with anomalies detected on initial (88%) than for fetuses with anomalies undetected until delivery (90 of 91, 99%; P < .002). CONCLUSION: In a low-risk, nonreferred cohort with fetal anomaly prevalence of 1%, follow-up sonography resulted in detection of 45% of fetal anomalies that had not been identified during the initial standard sonogram. Significantly more follow-up sonograms were required to detect each additional anomalous fetus.


Assuntos
Anormalidades Congênitas/diagnóstico por imagem , Idade Gestacional , Guias de Prática Clínica como Assunto , Ultrassonografia Pré-Natal/métodos , Anormalidades Múltiplas/diagnóstico por imagem , Adulto , Doenças do Desenvolvimento Ósseo/congênito , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Estudos de Coortes , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades do Sistema Digestório/diagnóstico por imagem , Feminino , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , Recém-Nascido , Malformações do Sistema Nervoso/diagnóstico por imagem , Gravidez , Segundo Trimestre da Gravidez , Anormalidades do Sistema Respiratório/diagnóstico por imagem , Estudos Retrospectivos , Ultrassonografia Pré-Natal/normas , Anormalidades Urogenitais/diagnóstico por imagem
13.
J Pediatr Orthop ; 40(1): 17-22, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31815857

RESUMO

BACKGROUND: In juvenile and adolescent tibia vara patients with sufficient growth remaining, implant-controlled hemiepiphyseodesis, or guided growth, can be used to correct deformity. Recent reports have described hardware failure of certain hemiepiphyseodesis implants in overweight patients with tibia vara. We describe our experience using transphyseal screws to correct deformity in this patient population. METHODS: A retrospective chart and radiograph review was conducted on all juvenile and adolescent tibia vara patients who underwent lateral proximal tibial hemiepiphyseodesis using a single transphyseal screw. Charts were queried for preoperative and postoperative mechanical axis deviation, medial proximal tibial angle, lateral distal femoral angle, and postoperative complications or need for further surgery. RESULTS: In total, 14 affected limbs in 9 patients (6 males) who underwent lateral proximal tibial transphyseal screw hemiepiphyseodesis were considered. Average chronologic age at implantation was 10.4 years and average body mass index was 31.7 kg/m. At average 23-month follow-up, the average mechanical axis deviation improved from 46 to 0 mm (P<0.001), and the average medial proximal tibial angle improved from 81 to 92 degrees (P<0.001). No limbs underwent further surgery to correct residual deformity. There were no complications or instances of implant failure associated with the transphyseal screws. CONCLUSIONS: Hemiepiphyseodesis using transphyseal screws is an effective technique to correct deformity in juvenile and adolescent tibia vara patients with sufficient growth remaining. This method can be used safely with few complications and with minimal risk of mechanical failure, even in overweight patients. LEVEL OF EVIDENCE: Level IV-therapeutic.


Assuntos
Doenças do Desenvolvimento Ósseo/cirurgia , Parafusos Ósseos , Procedimentos Ortopédicos/métodos , Osteocondrose/congênito , Fenômenos Biomecânicos , Índice de Massa Corporal , Doenças do Desenvolvimento Ósseo/complicações , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Criança , Feminino , Fêmur/cirurgia , Seguimentos , Humanos , Masculino , Procedimentos Ortopédicos/instrumentação , Osteocondrose/complicações , Osteocondrose/diagnóstico por imagem , Osteocondrose/cirurgia , Obesidade Pediátrica/complicações , Complicações Pós-Operatórias/etiologia , Falha de Prótese , Radiografia , Estudos Retrospectivos , Tíbia/cirurgia
14.
BMC Musculoskelet Disord ; 20(1): 411, 2019 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-31488123

RESUMO

BACKGROUND: Developmental factors were assumed to be the key factors that influenced the morphology of femoral trochlea. This study investigated the effects of insufficient patellar stress after birth on the morphological development of the femoral trochlea. Effects of insufficient patellar stress on femoral trochlea were investigated using surgical induced patellectomy and patellar dislocation in growing rat model. METHODS: In this study, two experimental groups and one sham group (SG) were established. Thirty-six Wistar rats (female, 28 days of age) were randomly assigned to three groups. The patellectomy group (PG), rats underwent the patellectomy in this group. The dislocation group (DG), rats underwent the surgery-induced patellar dislocation. Histological staining (Safranin-O and fast green), Micro-computed tomographic (Micro-CT) analysis in two experimental endpoints (3, 12 weeks postoperatively) were selected to evaluate morphological changes of the femoral trochlea. RESULTS: Articular cartilage on the trochlear sulcus was remodeled at 3 weeks after the surgery, and degenerated at 12 weeks through the histological staining. The femoral trochlear angle (FTA) did not show a significant difference at 3 week between the experimental groups and the sham group (PG vs SG P = 0.38, DG vs SG p = 0.05), but the FTA was significantly increased in experimental groups at 12 weeks(PG vs SG P = 0.001, DG vs SG p = 0.005). The Bone volume density (BV/TV), Trabecular number (Tb.N) under the trochlea groove were significantly reduced at 3 weeks postoperatively in the experimental groups (PG vs SG p = 0.001, DG vs SG p = 0.002). No significant difference was found in BV/TV and Tb. N among the three groups at 12 weeks postoperatively. CONCLUSION: Surgical induced patellectomy and patellar dislocation leads to the dysplastic trochlear sulcus in growing rats. Besides the bone morphology of trochlear sulcus, the articular cartilage and subchondral trabecula under the trochlear sulcus were remodeled early stage after the surgery.


Assuntos
Doenças do Desenvolvimento Ósseo/etiologia , Cartilagem Articular/patologia , Fêmur/patologia , Patela/cirurgia , Luxação Patelar/complicações , Animais , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/patologia , Cartilagem Articular/diagnóstico por imagem , Modelos Animais de Doenças , Feminino , Fêmur/diagnóstico por imagem , Fêmur/crescimento & desenvolvimento , Humanos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/patologia , Procedimentos Ortopédicos/efeitos adversos , Luxação Patelar/etiologia , Ratos , Ratos Wistar , Estresse Mecânico , Microtomografia por Raio-X
15.
Int Orthop ; 43(11): 2563-2568, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31511951

RESUMO

INTRODUCTION: Osgood-Schlatter disease (OSD) is a traction apophysitis of the tibial tubercle and a common cause of anterior knee pain in growing adolescents. A variety of benign neoplasms can also cause bony prominence over the tibial tubercle in adolescents that might clinically imitate OSD. Therefore, the differential diagnosis of tumours mimicking OSD is critical and considered the primary goal of this study. METHODS: Eleven patients who were referred to our orthopaedic oncology department with clinical suspicions of OSD and obscure radiographic presentation were identified. The final diagnosis was OSD in three cases. The demographic, clinical, and radiologic characteristics of the remaining eight patients in whom a tumour mimicked OSD were evaluated. The diagnosis was confirmed by pathologic examination. RESULTS: The final diagnosis was periosteal chondroma in four cases, osteochondroma in three cases, and dysplasia epiphysealis hemimelica (DEH) in one case. The average age of the patients was 10.5 ± 3.1 years. In the majority of patients (62.5%), the lesion was painless. The mean size of the bump was 6.5 ± 1.2 cm2. In patients with a painful knee, the pain was constant and activity-independent. At history taking, the pain and bump size were progressive. CONCLUSION: Lack of pain, progressive pain and bump, activity-independent pain, a bump size larger than 5 cm2 at presentation, and age fewer than ten years could be considered in favour of tumours and against OSD.


Assuntos
Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Neoplasias Ósseas/diagnóstico por imagem , Fêmur/anormalidades , Osteocondrose/diagnóstico por imagem , Tíbia/anormalidades , Adolescente , Neoplasias Ósseas/complicações , Neoplasias Ósseas/patologia , Criança , Condroma/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Fêmur/diagnóstico por imagem , Humanos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/patologia , Masculino , Osteocondroma/diagnóstico por imagem , Osteocondrose/complicações , Dor/etiologia , Tíbia/diagnóstico por imagem , Tíbia/patologia
16.
BMC Musculoskelet Disord ; 20(1): 386, 2019 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-31455346

RESUMO

BACKGROUND: This study evaluated the technical adequacy of trans-articular sacroiliac joint (SIJ) fusion using three screws for non-traumatic SIJ pain, considering different grades of sacral dysplasia. METHODS: Cadaveric CT data of unilateral sacropelvic complexes for 72 individuals (53.4 ± 8.4 years) were selected. A 3D model was reformatted into the plain lateral radiograph to mark the articular surface of the SIJ. Subjects were classified into dysplastic (DYS) and non-dysplastic sacrum (NDS) groups. Proximal (PS), middle (MS), and distal screws (DS) with 10-mm diameter were virtually introduced to the iliac bone and the SIJ on the lateral image with a 5-mm safety margin. On a corresponding axial image, each screw was advanced vertically to the sagittal plane with the same safety margin. The entry points for each screw to the endplate of S1 (S2) and to the corresponding anterior sacral margin on the lateral image were measured, along with the maximal screw lengths on the axial image. Whether each screw passed through the SIJ was determined. Different types of sacral dysplasia and screws were compared statistically. RESULTS: Thirty-eight (26.4%) cases were DYS, and 106 (73.6%) were NDS. The entry points of all screws were significantly more distal in DYS than in NDS groups. The PS and MS screw lengths differed significantly between the 2 groups. Incidences of short sacral fixation (< 10 mm) were significantly higher for the DS in both NDS (38.7%) and DYS (39.5%) groups. Incidences of screw pass were lowest for the MS in both NDS (43.4%) and DYS (47.4%) groups. CONCLUSIONS: Sacral dysplasia locates the SIJ more distally and therefore affects the entry point locations and screw lengths for all screws in trans-articular SIJ fusion, compared with a non-dysplastic sacrum. Moreover, three-screw fixation risks the development of unstable DS fixation and a high extra-articular fixation rate in MS.


Assuntos
Artralgia/cirurgia , Artrodese/métodos , Doenças do Desenvolvimento Ósseo/complicações , Parafusos Ósseos , Sacro/patologia , Artralgia/etiologia , Artrodese/instrumentação , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/patologia , Cadáver , Feminino , Humanos , Ílio/diagnóstico por imagem , Ílio/cirurgia , Imageamento Tridimensional , Masculino , Pessoa de Meia-Idade , Radiografia , Articulação Sacroilíaca/patologia , Articulação Sacroilíaca/cirurgia , Sacro/diagnóstico por imagem , Sacro/cirurgia
17.
J Hum Genet ; 64(10): 1041-1044, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31388108

RESUMO

Mesomelic dysplasia (MD) encompasses a heterogeneous group of disorders characterized by shortening of the middle segments of the limbs. Previous studies have revealed the development of Nievergelt type-like MD accompanied by postaxial toe reduction in a patient with a ~500 kb microdeletion at 2q11.2 involving AFF3 alone, and the occurrence of Nievergelt type-like MD in mice with a ~353 kb deletion involving Aff3, together with strong expression of mouse Aff3 in the developing limbs and zeugopod. We encountered a 2 6/12-year-old Japanese girl with an unclassifiable MD associated with hypoplasia of postaxial toes, and identified a de novo likely pathogenic variant of AFF3 (NM_002285.2:c.697 G > A, p.(Ala233Thr)) by whole exome sequencing. The results provide further evidence for AFF3 being the causative gene for MD with foot malformation which may be termed "AFF3-related MD" or "Steichen-Gersdorf type MD".


Assuntos
Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/genética , Deformidades Congênitas do Pé/genética , Proteínas Nucleares/genética , Anormalidades Múltiplas/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Pré-Escolar , Feminino , Deformidades Congênitas do Pé/diagnóstico por imagem , Variação Genética , Humanos , Sequenciamento Completo do Exoma
18.
Orthop Surg ; 11(3): 474-480, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31243919

RESUMO

OBJECTIVE: This study was aimed to find the radiographic parameter predicting recurrence of stage 2 Blount's disease. METHOD: We retrospectively reviewed radiographs of 82 legs from 49 patients diagnosed with stage 2 Blount's disease by Langenskiöld classification who had failed brace treatment and underwent valgus osteotomy between 1998 to 2016. Age ranged from 26 to 47 months. The metaphyseal-diaphyseal angle was measured preoperatively. The medial metaphyseal slope of the proximal tibia and femorotibial angle were measured preoperatively and 3, 6, 12, and 24 months postoperatively in both non-recurrence (group 1) and recurrence (group 2) group. The receiver operating characteristic curve calculated using MedCalc software was used to determine the medial metaphyseal slope predicting risk for recurrence. Statistical analysis was performed using SPSS software. RESULTS: The mean follow-up time was 4.83 ± 0.38 years. The mean age was 34.57 ± 5.76 in group 1 and 33.2 ± 1.48 in group 2 (P = 0.258). The mean preoperative metaphyseal slope was 62.39° ± 9.75° in group 1 and 73.22° ± 6.59° in group 2 (P = 0.02). The mean preoperative femorotibial angle (FTA) was -14.31° ± 8.25° in group 1 and -18.89° ± 7.74° in group 2 (P = 0.1). The mean preoperative metaphyseal diaphyseal angle (MDA) was 14.75° ± 4.21° in group 1 and 20.11° ±5.16° in group 2 (P = 0.001). Demographic data including age, gender, weight, height, and body mass index showed no statistically significant difference between both groups. Out of 82 legs, 9 (10.97%) had recurrence. Preoperatively, the metaphyseal-diaphyseal angle showed statistical significance between both groups. The medial metaphyseal slope showed statistically significant difference between group 1 and group 2 at 3, 6, 12, and 24 months postoperatively. The receiver operating characteristic curve showed that a medial metaphyseal slope more than 70° at 12 months (sensitivity 88.89% and specificity 69.86%) and more than 62° at 24 months postoperatively (sensitivity 100%, specificity 52.3%) was a predictor for recurrence of stage 2 Blount's disease. CONCLUSION: Medial metaphyseal slope more than 62° over the 24-month follow-up was associated with recurrence of varus deformity.


Assuntos
Doenças do Desenvolvimento Ósseo/cirurgia , Fêmur/diagnóstico por imagem , Osteocondrose/congênito , Tíbia/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Pré-Escolar , Diáfises , Feminino , Fêmur/patologia , Seguimentos , Humanos , Masculino , Osteocondrose/diagnóstico por imagem , Osteocondrose/cirurgia , Osteotomia , Radiografia , Recidiva , Estudos Retrospectivos , Sensibilidade e Especificidade , Tíbia/patologia , Resultado do Tratamento
19.
BMC Vet Res ; 15(1): 182, 2019 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-31151444

RESUMO

BACKGROUND: A retrospective case series study was undertaken to describe the magnetic resonance imaging (MRI) findings in Pug dogs with thoracolumbar myelopathy and concurrent caudal articular process (CAP) dysplasia. Electronic clinical records were searched for Pug dogs who underwent MRI for the investigation of a T3-L3 spinal cord segment disease with subsequent confirmation of CAP dysplasia with computed tomography between January 2013 and June 2017. Clinical parameters age, gender, neuter status, body weight, urinary or faecal incontinence, severity and duration of clinical signs were recorded. MRI abnormalities were described. Univariable non-parametric tests investigated the association between the clinical parameters and evidence of extra- or intra-dural spinal cord compression on MRI. RESULTS: 18 Pug dogs were included. The median age was 106 months with median duration of clinical signs 5 months. All presented with variable severity of spastic paraparesis and ataxia; 50% suffered urinary/faecal incontinence. In all cases, MRI revealed a focal increase in T2-weighted signal intensity within the spinal cord at an intervertebral level where bilateral CAP dysplasia was present; this was bilateral aplasia in all but one case, which had one aplastic and one severely hypoplastic CAP. MRI lesions were associated with spinal cord compression in all but one case; intervertebral disc protrusion resulted in extra-dural compression in 10 (56%) cases; intra-dural compression was associated with a suspected arachnoid diverticulum in 4 (22%) cases and suspected pia-arachnoid fibrosis in 3 cases (17%). There was no association between clinical parameters and a diagnosis of intra-dural vs extra-dural compression. CAP dysplasia occurred at multiple levels in the T10-13 region with bilateral aplasia at T11-12 most often associated with corresponding spinal cord lesions on MRI. CONCLUSIONS: All Pugs dogs in this study were presented for chronic progressive ambulatory paraparesis; incontinence was commonly reported. Although intervertebral disc disease was the most common radiologic diagnosis, intra-dural compression associated with arachnoid diverticulae/fibrosis was also common. Bilateral CAP aplasia was present in all but one Pug dog at the level of MRI detectable spinal cord lesions. A causal relationship between CAP dysplasia and causes of thoracolumbar myelopathy is speculated but is not confirmed by this study.


Assuntos
Doenças do Desenvolvimento Ósseo/veterinária , Doenças do Cão/diagnóstico por imagem , Doenças da Medula Espinal/veterinária , Animais , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Cães , Feminino , Degeneração do Disco Intervertebral/diagnóstico por imagem , Degeneração do Disco Intervertebral/veterinária , Deslocamento do Disco Intervertebral/diagnóstico por imagem , Deslocamento do Disco Intervertebral/veterinária , Imagem por Ressonância Magnética/veterinária , Masculino , Paraparesia Espástica/veterinária , Estudos Retrospectivos , Compressão da Medula Espinal/diagnóstico por imagem , Compressão da Medula Espinal/veterinária , Doenças da Medula Espinal/diagnóstico por imagem , Vértebras Torácicas/diagnóstico por imagem
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