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1.
J Pediatr Orthop ; 43(6): e465-e470, 2023 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-37026790

RESUMEN

BACKGROUND: Osteogenesis imperfecta (OI) is a genetic disorder characterized by brittle bones and long bone deformity. Realignment and intramedullary rodding with telescopic rods are indicated for progressive deformity and can help prevent fractures. Rod bending is a reported complication of telescopic rods and a common indication for revision; however, the fate of bent lower extremity telescopic rods in the setting of OI has not been reported. METHODS: Patients with OI at a single institution who underwent lower extremity telescopic rod placement with at least 1-year follow-up were identified. Bent rods were identified, and for these bone segments, we collected the location and angle of bend, subsequent telescoping, refracture, increasing angulation of bend, and date of revision. RESULTS: One hundred sixty-eight telescopic rods in 43 patients were identified. Forty-six rods (27.4%) bent during follow-up, with an average angulation of 7.3 (range: 1 to 24) degrees. In patients with severe OI, 15.7% of rods bent compared with 35.7% in nonsevere OI ( P =0.003). The proportion of bent rods was different between independent and nonindependent ambulators (34.1% and 20.5%; P =0.035). Twenty-seven bent rods (58.7%) were revised, with 12 rods (26.0%) revised early (within 90 d). The angulation of rods that were revised early was significantly higher than rods not (14.6 and 4.3 degrees, P <0.001). Of the 34 bent rods not revised early, the average time to revision or final follow-up was 29.1 months. Twenty-five rods (73.5%) continued to telescope, 14 (41.2%) increased in angulation (average 3.2 degrees), and 10 bones (29.4%) refractured. None of the refractures required immediate rod revision. Two bones had multiple refractures. CONCLUSIONS: Bending is a common complication of telescopic rods in the lower extremities of patients with OI. It is more common in independent ambulators and patients with nonsevere OI, possibly because of the increased demand placed on the rods. Rods with a small bend and maintained fixation can telescope and need not be an indication for immediate revision. LEVEL OF EVIDENCE: Level III-Retrospective review.


Asunto(s)
Fracturas Óseas , Osteogénesis Imperfecta , Niño , Humanos , Osteogénesis Imperfecta/cirugía , Osteogénesis Imperfecta/complicaciones , Fijadores Internos , Fracturas Óseas/cirugía , Estudios Retrospectivos
2.
J Pediatr Orthop ; 43(1): 1-6, 2023 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-36044377

RESUMEN

BACKGROUND: Minimally displaced fractures of the lateral humeral condyle (LHC) may be treated nonoperatively in a long arm cast, but there is not a standardized evidence-based protocol. The aim of this study was to evaluate our nonoperatively treated LHC fractures, determine the risk of subsequent displacement, analyze our practice variability, and develop an evidence-based protocol to safely manage children with LHC fractures and to evaluate potential savings related to this analysis. METHODS: We retrospectively reviewed clinical and radiographic parameters of all patients with LHC fractures at our institution from 2009 to 2015. All patients treated nonoperatively initially were included. We recorded demographic data and calculated the number of visits, casts applied, and radiographs within the first 4 weeks. We also analyzed practice variation among 27 treating providers. The number of children with subsequent displacement needing operative fixation was determined. We also looked at the average duration for each follow-up visit and the charges/costs associated with casting and radiographs. RESULTS: There were 271 children with LHC fractures treated nonoperatively. Twenty-one were excluded because of the lack of adequate radiographs. There were 157 boys and 93 girls (average age 6.7 y). According to the Jakob classification, fracture types were as follows: 1 (230), 2 (20), and 3 (0). Within the first 4 weeks, the average number of visits was 2.6 (range: 1 to 5), average number of casts was 2.4 (range: 1 to 4), and the average number of radiographs was 9.4 (range: 2 to 31). Only 3 patients with LHC fracture type Jakob 1 were taken to the operating room post injury (9, 12, and 15 d, respectively) for subsequent displacement. CONCLUSION: Displacement in appropriately selected LHC fractures treated nonoperatively was rare (3/250, 1.2%) in this cohort, and the data question the need for multiple visits and radiographs in the first 4 weeks. Optimal follow-up (proposed follow-up at 10 to 15 d after injury and then 4 to 6 wk with radiographs, including an internal oblique view) would be safe, minimize waste, and result in better value-based care. LEVEL OF EVIDENCE: Level IV.


Asunto(s)
Articulación del Codo , Fracturas Humerales Distales , Fracturas del Húmero , Artropatías , Niño , Masculino , Femenino , Humanos , Estudios Retrospectivos , Fracturas del Húmero/diagnóstico por imagen , Fracturas del Húmero/terapia , Fracturas del Húmero/complicaciones , Articulación del Codo/cirugía , Húmero , Fijación Interna de Fracturas/métodos
3.
J Pediatr Orthop ; 42(6): e667-e673, 2022 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-35348549

RESUMEN

BACKGROUND: The peroneal nerve is at risk when excising tumors in the proximal fibula. The rate of nerve injuries during proximal fibular tumor resection varies from 3% to 20%. Our goal was to report our experience with resection of osteochondromas in the proximal fibula and describe the technique and utility of neuromonitoring during excision of proximal fibular osteochondromas (PFO). METHODS: Patients with a diagnosis of symptomatic PFO who had undergone excision at one institution from 1994 to 2018 were included. An institutional review board-approved retrospective review was performed. Intraoperative neuromonitoring was provided from 2006 on by a single group utilizing a multimodality protocol. RESULTS: This study contains 29 patients who had excision of osteochondromas in the proximal fibula. Of these 29 consecutively monitored patients, there were 34 involved extremities. Intraoperative neuromonitoring alerts occurred in 10/29 (34.5%) procedures, which included 3 electromyography (EMG) (30%), 2 motor-evoked potential (20%), 1 somatosensory-evoked potential (10%), and 4 alerts with a combination of EMG/motor-evoked potential/somatosensory-evoked potential changes (40%). The interventions that were taken resulted in resolution of the neuromonitoring changes in all procedures. Postoperatively, we noted 2 (6.9%) new mild sensory deficits, which resolved during follow up. There were 3 patients in whom pre-existing sensory-motor deficits improved but not completely after surgery, 1 motor weakness, and 2 with residual paresthesia. In those initially presenting with paresis, there was improvement in 8 of the 8 extremities by the last follow-up visit. Pain as a symptom was resolved in all cases. There were no iatrogenic foot drop injuries. The average follow up was 32.2 months. CONCLUSIONS: Neuromonitoring during PFO excision demonstrated a high number of alerts, all of which resolved following timely corrective action. The use of neuromonitoring may help decrease the risk of iatrogenic postoperative neurological deficits following fibular osteochondroma surgery. LEVEL OF EVIDENCE: Level IV.


Asunto(s)
Neoplasias Óseas , Osteocondroma , Neoplasias Óseas/cirugía , Potenciales Evocados Motores/fisiología , Potenciales Evocados Somatosensoriales/fisiología , Peroné , Humanos , Osteocondroma/cirugía , Estudios Retrospectivos
4.
J Clin Orthop Trauma ; 25: 101770, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-35127438

RESUMEN

BACKGROUND: Treatment of congenital and habitual dislocation of the patella in syndromic adolescents can be difficult due to accompanying soft-tissue and/or osseous abnormalities often present in the knee. The aim of this study was to report the results of surgical treatment of congenital and habitual patellar dislocation with medial patellofemoral ligament (MPFL) reconstruction and tibial tubercle osteotomy (TTO) in adolescents with an underlying syndrome. METHODS: Syndromic adolescent patients with congenital or habitual patellar dislocation treated with MPFL reconstruction and TTO between 2005 and 2019 with a minimum of one year of follow-up were identified. Demographic, clinical, radiographic, and surgical data were recorded, and any complications were noted. Kujala and Lysholm scores were used to quantitate knee function. RESULTS: Seventeen knees in 11 patients met the criteria for inclusion. The mean age at operation was 14.8 years (range, 13.3-18.3 years). Patients were identified as having Ehlers-Danlos (four), Down (two), trichorhinophalangeal (one), McCune-Albright (one), Klippel-Feil (one), and generalized joint hypermobility (two) syndromes. The mean follow-up was 2.2 years for each individual knee (range, 1-5.9 years). The mean Kujala score increased from 56 ± 10 preoperatively to 86 ± 6 at the most recent postoperative visit (p < 0.001). The mean Lysholm score increased from 53 ± 10 preoperatively to 85 ± 7 at the most recent postoperative visit (p < 0.001). Knee flexion increased significantly from 117° ± 15° preoperatively to 154° ± 13° postoperatively (p < 0.001). However, knee extension was no different pre- and postoperatively (4° ± 8° vs. 1° ± 4°, respectively, p = 0.2). CONCLUSIONS: Congenital and habitual patellar dislocation in adolescent-aged patients with an underlying syndromic diagnosis can be successfully treated with MPFL reconstruction combined with TTO.

5.
J Pediatr Orthop ; 42(4): 190-194, 2022 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-35051956

RESUMEN

BACKGROUND: Growth modulation using tension band plates (TBPs) is increasingly important for lower limb deformity correction in patients with skeletal dysplasia (SKD). Development of rebound deformity is a concern after TBP removal. Data regarding this complication are rare; therefore, we evaluated the prevalence and risk factors for rebound deformity in children with SKD undergoing correction of genu valgum using TBP. METHODS: All patients with SKD with genu valgum treated by TBP at the distal femur or/and proximal tibia at a single center were reviewed. Inclusion criteria were: (1) minimum 2-year follow-up after TBP removal or having revision surgery for rebound deformity and (2) implant removal age for girls 14 years and below and boys 16 years and below. Exclusion criteria were any femoral/tibial osteotomies during TBP treatment or follow-up. A change of ≥3 degrees of mechanical lateral distal femoral and/or medial proximal tibial angle was accepted as rebound deformity and analyzed statistically. RESULTS: Thirty-three patients (59 limbs; 52 femur and 29 tibia physes) met our criteria. Mean follow-up after implant removal was 43.7 months. Rebound deformities were seen in 43 limbs (39 femurs and 13 tibias). Boys had more rebound than girls; however, this was not influenced by body mass index. Femurs had more rebound than tibias. Patients in the rebound group were younger than the nonrebound group. Time from application to removal of TBP was shorter in the rebound versus nonrebound group. Overcorrected limbs had more rebound deformity than not overcorrected. The difference in growth velocity of lower limbs in the rebound versus nonrebound group was statistically significant. Patients with epiphyseal dysplasia had more rebound than metaphyseal dysplasia, but this was not statistically significant. CONCLUSION: Risk factors for developing a rebound deformity after correction of genu valgum using TBP in SKD included male sex, TBP surgery at a young age, short duration of TBP implantation, overcorrected extremity (mechanical axis deviation ≤1), and high percent growth velocity after TBP removal. LEVEL OF EVIDENCE: Level IV-retrospective study.


Asunto(s)
Genu Valgum , Adolescente , Placas Óseas , Niño , Femenino , Fémur/cirugía , Genu Valgum/etiología , Genu Valgum/cirugía , Humanos , Masculino , Estudios Retrospectivos , Factores de Riesgo , Tibia/cirugía
6.
J Pediatr Orthop ; 41(6): e386-e391, 2021 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-34096546

RESUMEN

BACKGROUND: Frankly dislocated hips occur in ∼1% to 3% of infants with developmental dysplasia of the hip and are often difficult to treat. In the most severely dislocated hips, the femoral head is positioned outside the posterior/lateral rim of the acetabulum and is irreducible, that is, the femoral head will not reduce by positioning the leg. The purpose of this study was to determine risk factors, using univariate and multivariate analyses, for Pavlik harness failure in infants who initially presented with irreducible/dislocated hips (confirmed by dynamic sonography). METHODS: Following institutional review board approval, 124 infants (170 hips) with frankly dislocated hips treated using a Pavlik harness between 2000 and 2018 were evaluated. Patients' demographic characteristics, clinical findings, dynamic sonographic findings (dislocated-fixed vs. dislocated-mobile), age at onset of Pavlik harness treatment, duration of harness usage, and follow-up treatments were recorded. Univariate analyses were used to determine risk factors for treatment failure. RESULTS: In frankly dislocated hips (confirmed by dynamic sonography to be positioned outside the posterior/lateral rim of the acetabulum), Pavlik harness treatment was successful in 104 of 170 hips (61%) while it failed in 66 hips. Mean follow-up was 4.86±4.20 years. Univariate analysis determined the risk factors to be onset of treatment after the seventh week of age (P=0.049) and initial mobility (dislocated-fixed group) (P<0.001) by dynamic sonography. In addition, multivariate analysis (P=0.007) showed infants of multigravida mothers (non-firstborn) to be another risk factor for failure. Six percent of hips with no risk factors failed Pavlik harness treatment, those with 1 risk factor had 42% failure, 2 risk factors had 69% failure, and all 3 risk factors had 100% failure. CONCLUSIONS: In our patients with frankly dislocated irreducible hips, 39% of hip failed Pavlik harness treatment. Independent multivariate, logistic regression analysis, and multivariate analysis determining the risk factors for failure of Pavlik harness treatment were onset of treatment after the seventh week of age, infants of multigravida mothers, and initial hip mobility (fixed-dislocated hips) by dynamic sonography. LEVEL OF EVIDENCE: Level III.


Asunto(s)
Luxación Congénita de la Cadera/terapia , Aparatos Ortopédicos/estadística & datos numéricos , Acetábulo/diagnóstico por imagen , Tirantes , Femenino , Cabeza Femoral/diagnóstico por imagen , Luxación de la Cadera , Luxación Congénita de la Cadera/diagnóstico por imagen , Humanos , Lactante , Recién Nacido , Luxaciones Articulares , Masculino , Equipo Ortopédico , Estudios Retrospectivos , Factores de Riesgo , Insuficiencia del Tratamiento , Ultrasonografía
7.
Instr Course Lect ; 70: 453-464, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33438927

RESUMEN

Bone and soft-tissue tumors are common in the pediatric population. It is important to be familiar with the appropriate workup, principles of biopsy, differences between unicameral and aneurysmal bone cysts, and principles of managing pathologic fractures in children. The management approach to pediatric soft-tissue masses and some of the recent advances in the field warrant discussion.


Asunto(s)
Quistes Óseos Aneurismáticos , Quistes Óseos , Fracturas Espontáneas , Huesos , Niño , Fracturas Espontáneas/etiología , Humanos
8.
J Surg Orthop Adv ; 29(3): 141-148, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33044153

RESUMEN

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).


Asunto(s)
Enfermedades del Desarrollo Óseo , Osteocondrosis , Enfermedades del Desarrollo Óseo/diagnóstico por imagen , Enfermedades del Desarrollo Óseo/cirugía , Preescolar , Humanos , Enfermedad Iatrogénica , Lactante , Osteocondrosis/congénito , Osteocondrosis/diagnóstico por imagen , Osteocondrosis/cirugía , Tibia/diagnóstico por imagen , Tibia/cirugía
9.
J Pediatr Orthop ; 40(9): e894-e897, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32658156

RESUMEN

PURPOSE: Chondroblastoma is a benign, but potentially locally aggressive, bone tumor with predilection for the epiphysis of long bones in growing children. Historically, there is a reported 2% risk of lung metastasis, however these cases are mostly in the form of isolated single reports and the vast majority in adults. The purpose of this study was to identify the "true" risk of lung metastases at presentation in skeletally immature patients with a benign chondroblastoma, and therefore revisit the need for routine chest staging. METHODS: This was a multi-institution, international retrospective study of children and adolescents diagnosed and treated for a benign chondroblastoma. We focused on the screening and diagnosis of lung metastasis, type of staging utilized and the incidence of local recurrence. Detailed review of the available literature was also performed for comparison. RESULTS: The final studied cohort included 130 children with an average age of 14.5 years (range: 6 to 18 y). There were 94 boys and 36 girls. Lesions more often involved the proximal humerus (32/130), proximal tibia (30/130), and proximal femur (28/130). At an average follow-up of 50 months, there were 15 local recurrences (11% rate) and no cases of lung metastasis. All patients underwent chest imaging at presentation. The overall reported lung metastases rate in the pulled literature review (larger series only) was 0.4% (7/1625), all patients were skeletally mature. CONCLUSIONS: This is the largest cohort of pediatric-exclusive chondroblastoma in the literature. Despite minor differences in management between the centers included, the recurrence rate was similar and there was no evidence of lung metastasis (0 in 130). The incidence of distant involvement in a true benign chondroblastoma in children is much lower than the 2% previously reported in the literature, and the need for routine chest staging should be revisited. LEVEL OF EVIDENCE: Level III.


Asunto(s)
Neoplasias Óseas , Condroblastoma , Neoplasias Pulmonares , Recurrencia Local de Neoplasia , Neoplasias , Adolescente , Neoplasias Óseas/patología , Neoplasias Óseas/cirugía , Condroblastoma/patología , Condroblastoma/cirugía , Estudios de Cohortes , Legrado/métodos , Femenino , Humanos , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Pulmonares/secundario , Masculino , Uso Excesivo de los Servicios de Salud/prevención & control , Recurrencia Local de Neoplasia/diagnóstico , Recurrencia Local de Neoplasia/epidemiología , Estadificación de Neoplasias/métodos , Neoplasias/diagnóstico , Neoplasias/epidemiología , Estudios Retrospectivos
10.
J Pediatr Orthop ; 40(5): 235-240, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31318732

RESUMEN

OBJECTIVES: Patient-reported outcomes (PRO) assessing health-related quality of life (HRQoL) are important outcome measures, especially in Legg-Calvé-Perthes disease (LCPD) where symptoms (pain and limping), activity restrictions, and treatments vary depending on the stage of the disease. The purpose of this study was to investigate the validity of the Patient-reported Outcomes Measurement Information System (PROMIS) for measuring HRQoL of patients with LCPD in various stages of the disease. METHODS: This is a multicenter validity study. Patients with LCPD between 4 and 18 years old were included and classified into modified Waldenström stages of disease: Early (1 or 2A), Late (2B or 3), or Healed (4). Seven PROMIS domains were collected, including Pain Interference, Fatigue, Mobility, Depression, Anger, Anxiety, and Peer Relationships. Convergent, discriminant, and known group validity was determined. RESULTS: A total of 190 patients were included (mean age: 10.4±3.1 y). All 7 domains showed the worst scores in patients in the Early stage (known group validity). Within each domain, all domains positively correlated to each other (convergent validity). Patients who reported more anxiety, depression, and anger were associated with decreased mobility and increased fatigue and pain. Peer relationships had no to weak associations with other domains (discriminant validity). CONCLUSIONS: PROMIS has construct validity in measuring the HRQoL of patients in different stages of LCPD, suggesting that PROMIS has potential to serve as a patient-reported outcome tool for this population. LEVEL OF EVIDENCE: Diagnostic level III study.


Asunto(s)
Enfermedad de Legg-Calve-Perthes/complicaciones , Enfermedad de Legg-Calve-Perthes/psicología , Medición de Resultados Informados por el Paciente , Calidad de Vida , Adolescente , Ira , Ansiedad/etiología , Niño , Preescolar , Depresión/etiología , Fatiga/etiología , Femenino , Humanos , Masculino , Limitación de la Movilidad , Dolor/etiología , Autoinforme
11.
Am J Med Genet A ; 179(9): 1725-1744, 2019 09.
Artículo en Inglés | MEDLINE | ID: mdl-31222966

RESUMEN

Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence-based guidelines due to the lack of data for this rare condition.


Asunto(s)
Anomalías Múltiples/genética , Síndrome de Costello/genética , Corazón/fisiopatología , Proteínas Proto-Oncogénicas p21(ras)/genética , Anomalías Múltiples/fisiopatología , Síndrome de Costello/fisiopatología , Síndrome de Costello/terapia , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/fisiopatología , Manejo de la Enfermedad , Cara/anomalías , Regulación de la Expresión Génica/genética , Genotipo , Mutación de Línea Germinal/genética , Guías como Asunto , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/fisiopatología , Humanos , Fenotipo
12.
J Pediatr Orthop ; 38(2): 116-121, 2018 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27137903

RESUMEN

BACKGROUND: Magnetic resonance imaging (MRI) is useful in evaluating nontraumatic hip pain. It provides information about associated injuries like labral/chondral tears or ischiofemoral impingement (IFI). However, in hereditary multiple exostoses (HME) there has been no report about MRI findings in symptomatic children with hip involvement. METHODS: Records of children with HME and hip osteochondromas, who had hip MRI/magnetic resonance arthrography, were reviewed. The presence of chondral lesions and labral tears, as well the presence of IFI, was recorded. IFI was defined as edema or fatty replacement/atrophy in the quadratus femoris muscle or decrease of the space for this muscle between the ischium and the proximal femur. The measurements used to determine the space included the ischiofemoral space, the quadratus femoris space, and the minimum ischiofemoral space (MIFS). All measurements were performed on axial T1-weighted images. RESULTS: Ten children were included (4 males, 6 females). In 2 patients, MRI was unilateral, therefore a total of 18 hips were analyzed. The indication for MRI was hip pain. Mean age, when MRI was performed, was 11.7 years. Labral tears were found in 44% (8/18) and chondral lesions in 33% (6/18) of the hips. The mean ischiofemoral space was 17.2 mm (SD, 7.3), the mean quadratus femoris space was 14.9 mm (SD, 5.3), and the mean MIFS was of 12.8 mm (SD, 5.9). IFI was seen in 44% (8/18) of hips. Two patients had bilateral IFI. MIFS was <10 mm in all hips with IFI (8/8). Of these hips, 88% (7/8) had edema of the quadratus femoris muscle and 38% (3/8) had fatty replacement/atrophy in the muscle. Osteochondromas were seen in the lesser trochanter in all hips with IFI (8/8) and in the ischium in 50% of them (4/8). CONCLUSIONS: In symptomatic children with HME of the hip, MRI is helpful in detecting the source of pain. A high percentage of these children have IFI and intra-articular lesions. These findings can play an important role in the indication and planning of the surgical approach. LEVEL OF EVIDENCE: Level IV-diagnostic study.


Asunto(s)
Artralgia/diagnóstico , Exostosis Múltiple Hereditaria/diagnóstico por imagen , Articulación de la Cadera/patología , Músculo Esquelético/diagnóstico por imagen , Adolescente , Artralgia/etiología , Neoplasias Óseas/diagnóstico por imagen , Neoplasias Óseas/patología , Niño , Exostosis Múltiple Hereditaria/patología , Femenino , Fémur/diagnóstico por imagen , Fémur/patología , Articulación de la Cadera/diagnóstico por imagen , Humanos , Isquion , Imagen por Resonancia Magnética , Masculino , Músculo Esquelético/patología , Osteocondroma/diagnóstico por imagen , Osteocondroma/patología , Estudios Retrospectivos
13.
J Pediatr Orthop ; 38(6): 305-311, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-27328120

RESUMEN

BACKGROUND: This study aimed to report the radiographic presentation of involved hips in children with hereditary multiple exostoses (HME). This included radiographic hip measurements, osteochondromas location, and relationship with hip subluxation. METHODS: Anteroposterior pelvis radiographs of children with HME, seen between 2003 and 2014, were retrospectively reviewed. Only patients who were skeletally immature at the first visit were included. One radiograph per patient per year was reviewed. Radiographs were examined for the presence of osteochondromas and their locations. Different parameters were evaluated: femoral neck-shaft angle, Reimer migration percentage (MP), Sharp acetabular angle, Wiberg angle, femoral head-neck ratio (coronal plane), and Shenton line. All measured radiographs were divided into 3 age groups:≤8,>8 and <13, and ≥13 years. Differences of the measured parameters with age were evaluated. Children with hip subluxation were identified and any relationship with osteochondromas locations, as well as MP changes over time, was recorded. Radiographs of children with a minimum 2-year follow-up were identified and changes of their hip measurements and osteochondromas' presence over time were recorded. RESULTS: A total of 51 children (102 hips) with HME were identified. In most locations, there was an overall increase of the occurrence of osteochondromas in the older age groups. However, in the medial femoral neck, a significantly less numbers of osteochondromas were found after 13 years of age (P=0.018). There was a decrease in MP with age (P<0.05). There was also an increase in Sharp and Wiberg angles in the older patients (P<0.05). Hips with broken Shenton line decreased in number with age (P 0.028). Hip subluxation was encountered in 23 hips. No specific location of osteochondromas was found to have a relationship with subluxation. Thirty-six children had a minimum follow-up of 2 years (mean age at first visit 8.5 y and at last visit 13.1 y). In these children, an increased occurrence of lesions was found in medial femoral neck and ischium (P<0.05) between the first and the last visit. CONCLUSIONS: In children with HME, radiographic evaluation of the hip is necessary based on the high percentage of hip involvement. When hip osteochondromas are found, radiographic surveillance is recommended to detect hip subluxation. Surgery may certainly be necessary for symptomatic osteochondromas. However, given the possibility of improvement in hip parameters with age, early surgical treatment to improve hip longevity does not seem to be warranted. LEVEL OF EVIDENCE: Level IV-prognostic study.


Asunto(s)
Exostosis Múltiple Hereditaria/diagnóstico por imagen , Luxación de la Cadera/diagnóstico por imagen , Articulación de la Cadera/diagnóstico por imagen , Acetábulo , Adolescente , Niño , Preescolar , Exostosis Múltiple Hereditaria/epidemiología , Femenino , Fémur , Cabeza Femoral , Cuello Femoral , Luxación de la Cadera/epidemiología , Humanos , Masculino , Osteocondroma , Radiografía , Estudios Retrospectivos
14.
Am J Med Genet A ; 173(12): 3205-3210, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-29080333

RESUMEN

Small supernumerary ring chromosome 6 (sSRC[6]) is a rare chromosomal abnormality characterized by a broad clinical phenotype. The spectrum of this disorder can range from phenotypically normal to severe developmental delay and congenital anomalies. We describe two unrelated patients with small SRCs derived from chromosome 6 with a novel bone phenotype. Both patients presented with a complex bone disorder characterized by severe osteopenia, pathologic fractures, and cyst-like lesions within the bone. Imaging revealed decreased bone mineral density, mutiple multiloculated cysts and cortical thinning. Lesion pathology in both patients demonstrated a bland cyst wall with woven dysplastic appearing bone entrapped within it. In patient 1, array comparative genomic hybridization (CGH) detected a tandem duplication of region 6p12.3 to 6q12 per marker chromosome. Cytogenetic analysis further revealed a complex patient of mosaicism with some cell lines displaying either one or two copies of the marker indicative of both tetrasomy and hexasomy of this region. Patient 2 was mosaic for a sSRC that encompassed a 26.8 Mb gain from 6p21.2 to 6q12. We performed an in-depth clinical analysis of a phenotype not previously observed in sSRC(6) patients and discuss the potential influence of genes located within this region on the skeletal presentation observed.


Asunto(s)
Quistes Óseos Aneurismáticos/genética , Trastornos de los Cromosomas/genética , Fracturas Espontáneas/genética , Osteocondrodisplasias/genética , Adolescente , Quistes Óseos Aneurismáticos/diagnóstico por imagen , Bandeo Cromosómico , Trastornos de los Cromosomas/diagnóstico , Cromosomas Humanos Par 6/genética , Hibridación Genómica Comparativa , Análisis Citogenético , Fracturas Espontáneas/diagnóstico por imagen , Marcadores Genéticos/genética , Humanos , Cariotipificación , Masculino , Mosaicismo , Osteocondrodisplasias/diagnóstico por imagen , Fenotipo , Cromosomas en Anillo
15.
BMJ Open ; 7(7): e016788, 2017 Jul 21.
Artículo en Inglés | MEDLINE | ID: mdl-28733303

RESUMEN

OBJECTIVES: We studied oral glucocorticoids and osteonecrosis, a rare but serious bone disease, in individuals with various chronic inflammatory diseases. We hypothesised that we would find stronger associations in adults versus children and in people with autoimmune diseases. DESIGN: Retrospective cohort study. SETTING: Population-representative data (1994-2013) from general practices in the UK. PARTICIPANTS: Children and adults diagnosed with asthma; inflammatory bowel disease; juvenile, psoriatic or rheumatoid arthritis; psoriasis; or systemic lupus. EXPOSURES: Oral glucocorticoid patterns. PRIMARY AND SECONDARY OUTCOME MEASURES: Diagnosed osteonecrosis (primary) and osteonecrosis plus clinical features (eg, symptoms, pain medication, surgical repair) (secondary). Discrete time failure models estimated the adjusted hazard ratio (aHR) of incident osteonecrosis following oral glucocorticoid exposure. Hypothesis testing was one sided (with corresponding 90% CI) since glucocorticoids were unlikely protective. RESULTS: After adjusting for demographic, disease-related and health utilisation factors, glucocorticoid exposure was associated with osteonecrosis in adults (ages 18-49, aHR 2.1 (90% CI 1.5 to 2.9); ages ≥50, aHR 1.3 (90% CI 1.01 to 1.7)). However, low-dose glucocorticoids, corresponding to average doses <7.5 mg prednisolone daily and maximum doses <30 mg daily, were not associated with osteonecrosis in adults. Furthermore, even at high glucocorticoid doses, there was no evidence of increased osteonecrosis among glucocorticoid-exposed children (p=0.04 for interaction by age) (any glucocorticoid exposure, ages 2-9: aHR 1.1 (90% CI 0.7 to 1.7); ages 10-17: aHR 0.6 (90% CI 0.3 to 1.6)). Arthritis, inflammatory bowel disease and lupus were independently associated with osteonecrosis, but there was a similar dose relationship between glucocorticoids and osteonecrosis among adults with low-risk and high-risk diseases. CONCLUSIONS: Glucocorticoid use was clearly associated with osteonecrosis in a dose-related fashion in adults, especially young adults, but this risk was not detectable in children. The absolute risk of glucocorticoid-associated osteonecrosis in the general paediatric population and in adults taking low glucocorticoid doses is at most extremely small.


Asunto(s)
Enfermedad Crónica/tratamiento farmacológico , Glucocorticoides/efectos adversos , Inflamación/tratamiento farmacológico , Osteonecrosis/inducido químicamente , Administración Oral , Adolescente , Adulto , Artritis Reumatoide/tratamiento farmacológico , Asma/tratamiento farmacológico , Niño , Preescolar , Relación Dosis-Respuesta a Droga , Femenino , Glucocorticoides/uso terapéutico , Humanos , Enfermedades Inflamatorias del Intestino/tratamiento farmacológico , Lupus Eritematoso Sistémico/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Modelos de Riesgos Proporcionales , Psoriasis/tratamiento farmacológico , Estudios Retrospectivos , Adulto Joven
16.
J Pediatr Orthop ; 37(5): 323-327, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-26368859

RESUMEN

BACKGROUND: Either percutaneous or eight-plate epiphysiodesis have been shown to be effective growth modulation techniques for the treatment of limb length discrepancies (LLD). However, few studies compared the outcomes of both techniques with some confounding results. The aim of this study was to evaluate the outcomes of the both techniques in the treatment of the LLD. METHODS: Between 2004 and 2012, medical records of all cases that underwent either eight-plate or percutaneous epiphysiodesis (PE) were reviewed. Age at surgery, sex, diagnosis, surgical site (proximal tibia/distal femur), time of follow-up, complications, and additional procedures were noted. Correction of the LLD was evaluated to calculate the rate of correction and the percentage of improvement from the long-leg standing x-rays or scanograms, collected at each visit. RESULTS: There were 24 patients in the eight-plate (10 girls and 14 boys) and 48 patients in the PE group (28 girls and 20 boys). No statistically significant difference was found in the age, sex, preoperative LLD, or follow-up between groups. Both groups reached to an average LLD below 2 cm. The percentage of improvement was significantly higher in the PE group (P=0.031). The rate of individual femoral and tibial correction did not differ between the groups. CONCLUSIONS: Both methods are shown to be effective for LLD correction. However, PE led to greater improvement during the same follow-up time with fewer complications and less need for additional surgical procedures.


Asunto(s)
Artrodesis/métodos , Alargamiento Óseo/métodos , Placa de Crecimiento/cirugía , Diferencia de Longitud de las Piernas/cirugía , Adolescente , Placas Óseas , Niño , Femenino , Fémur/cirugía , Humanos , Diferencia de Longitud de las Piernas/diagnóstico por imagen , Masculino , Radiografía , Tibia/cirugía
18.
J Pediatr Orthop B ; 25(6): 539-42, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26808591

RESUMEN

This retrospective review of 46 popliteal cysts seen in 44 patients at a pediatric orthopedic referral center clarifies the presenting symptomatology, associated conditions, and likely duration of a popliteal cyst, and the need for intervention. The patients were followed up for more than 1 year. Thirty-six of the 46 cysts with duration data showed no resolution of the popliteal cyst during the period of observation (average, 32.1 months). The 10 cysts that showed clinical resolution were present for an average of 16.9 months. The benign course of action for virtually all patients obviated the need for intervention and supports the adequacy of only clinical examination, with no need for recurrent sonography.


Asunto(s)
Quiste Poplíteo/diagnóstico , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Masculino , Ortopedia , Quiste Poplíteo/cirugía , Recurrencia , Estudios Retrospectivos , Ultrasonografía
19.
J Pediatr Orthop ; 36(4): 392-9, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25985373

RESUMEN

BACKGROUND: Several treatment modalities have been described for the treatment of unicameral bone cysts (UBC). The aim of this study was to examine the outcome of various treatment modalities of UBC in a specific anatomic location, the humerus. METHODS: This study is a retrospective case-only study of patients with humeral UBC with minimum follow-up of 1 year. Medical records and radiographs were assessed and UBC healing status was determined based on most recent follow-up radiographs and divided into 3 groups (healed, partially healed, and not healed). Descriptive statistics were utilized to summarize study outcome. RESULTS: Sixty-eight patients (54 boys and 14 girls) with humeral UBC comprised the study population. Sixty-four cases (94.1%) presented with a pathologic fracture. Fifty-one cases were in the proximal metaphysis and 17 were in the diaphysis. Mean age at diagnosis was 9.2±3.7 years, and mean follow-up was 4.0±2.6 years. Twenty-five patients were treated with observation, 38 by injection (27 with steroids and 11 with bone marrow), and 5 by open surgery. Patients who underwent open surgery had relatively larger cyst length, width, and cyst index, and all healed or partially healed at last follow-up. UBC persistence was observed in 29% of diaphyseal and 27.5% of metaphyseal cysts. Of the 19 patients with persistence, 8 were treated with observation, 9 with steroid injection, and 2 with bone marrow injection. Inner wall disruption before injection was performed in 17 patients (24% did not heal), whereas 21 patients did not have inner wall disruption (33% did not heal). Twenty patients received >1 injection. Eleven patients complained of pain at the last visit (8 had a persistent cyst, 2 were partially healed, and 1 had a healed UBC). CONCLUSIONS: Complete healing of humeral UBC is challenging to achieve irrespective of treatment modality. UBCs treated with open surgery tended to heal better. Unhealed cysts were more likely to be associated with pain. LEVEL OF EVIDENCE: Level III-a retrospective comparative study.


Asunto(s)
Quistes Óseos/terapia , Trasplante de Médula Ósea/métodos , Fracturas Espontáneas/terapia , Glucocorticoides/uso terapéutico , Húmero/cirugía , Metilprednisolona/uso terapéutico , Espera Vigilante , Quistes Óseos/complicaciones , Quistes Óseos/diagnóstico por imagen , Niño , Preescolar , Tratamiento Conservador , Femenino , Fracturas Espontáneas/diagnóstico por imagen , Fracturas Espontáneas/etiología , Humanos , Húmero/diagnóstico por imagen , Inyecciones , Masculino , Radiografía , Estudios Retrospectivos , Resultado del Tratamiento
20.
Del Med J ; 87(3): 77-80, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25985540

RESUMEN

OBJECTIVE: The aim of our study was to determine the inter-observer reliability of the ankle-brachial index (ABI) in the pediatric population. This was done to determine if this simple diagnostic test could be utilized in lieu of CT angiograms to reduce radiation exposure to children sustaining trauma, particularly physeal fractures about the knee. DESIGN: Diagnostic study of consecutive patients with no applied "gold-standard" test. SETTING: Level I pediatric hospital. PATIENTS/PARTICIPANTS: Thirty consecutive patients from a busy fracture clinic were recruited. Patients ranged in age from 7-17 years. INTERVENTION: Manual systolic blood pressure measurements from uninjured limbs were taken by two independent attending orthopaedic surgeons from the ipsilateral brachial, dorsalis pedis, and posterior tibial arteries of each patient. MAIN OUTCOME MEASUREMENTS: The intraclass correlation coefficients from each anatomic area were calculated. RESULTS: Intraclass correlation of measurements from all three anatomic locations showed good inter-observer reliability. The intraclass correlation coefficients from the brachial, dorsalis pedis, and posterior tibial arteries were 0.699, 0.815, and 0.740, respectively. Therefore, the calculation of the ABI was consistent between the two observers despite any variability in individual pressure measurements. CONCLUSIONS: The ABI is a fast, non-invasive test that can be applied to the pediatric population in the evaluation of lower extremity arterial injury associated with orthopaedic trauma. It can obviate the need for tests such as CT angiograms that have inherent risks, particularly those associated with radiation exposure that are of concern in a young child.


Asunto(s)
Índice Tobillo Braquial , Adolescente , Angiografía , Niño , Femenino , Hospitales Pediátricos , Humanos , Masculino , Reproducibilidad de los Resultados , Tomografía Computarizada por Rayos X
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