Early radiographic characteristics of the lateral talocalcaneal angle and its predictive significance for relapse in patients with idiopathic clubfoot treated with the Ponseti method.

In order to evaluate the early radiographic characteristics of the lateral talocalcaneal (L-TC) angle in patients with idiopathic clubfoot (ICF) and to investigate its prognostic significance for relapse after initial treatment with the Ponseti method. We retrospectively included 151 patients (96 males and 55 females; 227 feet) with ICF treated at our Institution between January 2005 and December 2014. The age at initial treatment was less than 6 months, and radiographs were obtained within 3 months of the Achilles tenotomy (mean age: 2.3 months; range: 0.77-6.8). All patients were followed up for at least 7 years (range, 7-18). The participants' feet were classified into three groups: relapsed (Group A), not relapsed (Group B), and normal foot groups which consisted of healthy feet in patients with unilateral ICF (Group C). All angle measurements were expressed in degrees. Forty-seven ICF feet in 33 patients relapsed, while 180 feet in 118 patients did not, and the age at relapse was 5.92±1.91 years. Seventy-five normal feet were included in Group C. The average L-TC angle in Group A and B patients was 33.57°±12.05° and 39.37°±12.55°, respectively, while Group C was 49.61°±9.11°. A significant difference was found among the three groups of patients (F=31.48, P<0.001). The L-TC angle cut-off value below which a recurrence could be predicted was 36.1° (sensitivity, 74.47%). The L-TC angle of ICF patients treated using the Ponseti method were reduced compared to normal feet. An L-TC angle of <36.1° has relative value in predicting ICF relapse. LEVEL OF EVIDENCE: III.

Preliminary evaluation of sagittal and transverse plane cross-sectional variations of the trunk during quiet and deep breathing by optical reflective motion analysis in patients with scoliosis.

Trunk movements during quiet and deep breathing in untreated and in operated patients with scoliosis are not well defined. To evaluate sagittal and transverse plane cross-sectional variations of the trunk during quiet and deep breathing by optical reflective motion analysis (ORMA) in children with scoliosis. Twenty-one patients were divided into three groups: normal subjects (A; n = 6), subjects with untreated scoliosis >50° (B; n = 7) and operated patients (C; n = 8). Standing and sitting height, T1-T12 and L1-L5 length, arm span, chest perimeter, weight and BMI were recorded. Trunk movements of all patients, during quiet and deep breathing, were measured with a 10-camera 3D ORMA system (82 markers) with the subjects in a standard standing position. Groups were comparable with respect to age, sex, height, arm span and weight (P > 0.05). Significant differences were found in Cobb angle, chest perimeter and BMI (P < 0.05). Trunk sagittal and transverse plane movements during quiet and deep breathing decreased significantly in group B and group C when compared to group A (P < 0.05). Surgery does not completely eliminate sagittal and transverse plane kinematics, although the spine is rendered more rigid. This preliminary study involving a relatively limited number of patients outlines ORMA is a useful tool for analyzing sagittal and transverse plane motion abnormalities of the trunk. Trunk kinematics was altered during breathing in unoperated patients with scoliosis >50°. Operated subjects had sagittal plane trunk kinematics closer to normal subjects, although changes were less pronounced at the level of the convex side.

Effects of posterior hemivertebra resection and short segment fusion on the evolution of sagittal balance in children with congenital scoliosis.

There is a paucity of data describing sagittal alignment changes in children with congenital scoliosis (CS) treated by hemivertebra (HV) resection. This study aimed to evaluate the effects of posterior HV resection on spine sagittal alignment in children with CS. This is a retrospective analysis of 31 children with CS (mean age at surgery: 49.61 ± 10.21 months; range, 39-72; mean follow-up time: 5.16 ± 1.21 years; range: 3-7) treated at our Institution. Only patients with single thoracic or single lumbar, fully segmented HV managed by posterior HV resection and two segments fusion with four screws and two robs were included. According to the anatomical location of the HV, patients were divided into two groups: thoracic (group A) and lumbar (group B). Thoracic kyphosis (T1-T12; TK) and lumbar lordosis (L1-S1; LL) were measured pre- and postoperatively at 6 months interval. Postoperative TK and LL were 30.3 ± 11.47 and 28.8 ± 9.47, and were 31.98 ± 9.66 and 46.7 ± 11.37 at the last follow-up visit, respectively. The incidence of thoracic hypokyphosis in group B was 53.3%, and it was significantly higher compared to group A (12.5%, P = 0.04). During follow-up, TK changes were comparable between the two groups of patients while LL improved in all patients 6 months after surgery, and continued to improve thereafter. Posterior HV resection and short segment fusion have limited impact on the evolution of TK; in particular, children with lumbar HV were more likely to be hypokyphotic preoperatively, but less likely postoperatively with an increase in LL and a stabilization of TK.

Three-dimensional gait analysis in children with recurrent idiopathic clubfoot undergoing complete tibialis anterior tendon transfer.

This study was aimed to evaluate the kinetics and kinematics of the foot and ankle using three-dimensional gait analysis in children with recurrent clubfoot treated with tibialis anterior tendon transfer (TATT). Three-dimensional gait analysis of 17 children with dynamic supination (24 feet; 12 males; mean age: 6.34 years) was performed pre- and post-TATT. Spatial, temporal and kinematic parameters, as well as the gait deviation index (GDI), were recorded for all patients. Moreover, to evaluate the severity of dynamic supination during walking, we also measured the angle between the plane of the foot and the X-axis during the swing phase (V-angle-S). The postoperative step length (38.95 ± 8.36 cm) and stride length (76.73 ± 15.92 cm) were significantly smaller than their preoperative values (40.68 ± 9.35 cm and 80.57 ± 17.51 cm; P = 0.0316 and P = 0.0028, respectively). The postoperative peak internal ankle rotation angle in the frontal plane (20.45° ± 14.44) was significantly lower than the preoperative value (25.93° ± 9.84; P = 0.029). The postoperative peak internal foot progression angle in the transverse plane (0.96° ± 5.83) was significantly lower than the preoperative value (4.34° ± 8.88; P = 0.026). However, both the peak ankle varus moment and GDI were not significantly different between the pre- and postoperative data. Postoperative V-angle-S values (28.55° ± 7.56) were reduced compared to their preoperative values (32.52° ± 6.53; P = 0.0094). TATT to the lateral cuneiform can correct dynamic supination in patients with a recurrent clubfoot; however, it has limited or no effects on hindfoot varus deformity. Level of evidence: Level III.

A mutation in SLC20A2 (c.C1849T) promotes proliferation while inhibiting hypertrophic differentiation in ATDC5 chondrocytes.

AIMS: This study aimed to investigate the effect of solute carrier family 20 member 2 (SLC20A2) gene mutation (identified from a hereditary multiple exostoses family) on chondrocyte proliferation and differentiation. METHODS: ATDC5 chondrocytes were cultured in insulin-transferrin-selenium medium to induce differentiation. Cells were transfected with pcDNA3.0 plasmids with either a wild-type (WT) or mutated (MUT) SLC20A2 gene. The inorganic phosphate (Pi) concentration in the medium of cells was determined. The expression of markers of chondrocyte proliferation and differentiation, the Indian hedgehog (Ihh), and parathyroid hormone-related protein (PTHrP) pathway were evaluated by quantitative real-time polymerase chain reaction (qRT-PCR) and western blotting. RESULTS: The expression of SLC20A2 in MUT group was similar to WT group. The Pi concentration in the medium of cells in MUT group was significantly higher than WT group, which meant the SLC20A2 mutation inhibited Pi uptake in ATDC5 chondrocytes. The proliferation rate of ATDC5 chondrocytes in MUT group was greater than WT group. The expression of aggrecan (Acan), α-1 chain of type II collagen (COL2A1), and SRY-box transcription factor 9 (SOX9) were higher in MUT group than WT group. However, the expression of Runt-related transcription factor 2 (Runx2), α-1 chain of type X collagen (COL10A1), and matrix metallopeptidase 13 (MMP13) was significantly decreased in the MUT group. Similar results were obtained by Alcian blue and Alizarin red staining. The expression of Ihh and PTHrP in MUT group was higher than WT group. An inhibitor (cyclopamine) of Ihh/PTHrP signalling pathway inhibited the proliferation and restored the differentiation of chondrocytes in MUT group. CONCLUSION: A mutation in SLC20A2 (c.C1948T) decreases Pi uptake in ATDC5 chondrocytes. SLC20A2 mutation promotes chondrocyte proliferation while inhibiting chondrocyte differentiation. The Ihh/PTHrP signalling pathway may play an important role in this process. Cite this article: Bone Joint Res 2020;9(11):751-760.

Risk factors associated with unsatisfactory hip function in children with late-diagnosed developmental dislocation of the hip treated by open reduction.

BACKGROUND: Open reduction with or without pelvic and femoral osteotomy is the accepted treatment option for children older than 18 months with developmental dislocation of the hip (DDH). However, few studies have investigated hip function in children with late DDH treated by open reduction. Therefore, we performed a retrospective study investigating the risk factors potentially associated with unsatisfactory hip function. HYPOTHESIS: We hypothesized that some risk factors can be associated with unsatisfactory hip function in patients with late DDH treated by open reduction. PATIENTS AND METHODS: We retrospectively reviewed the clinical and radiographic data of 79 children (98 hips, mean age 39.7±18.6 months; range, 19-95.3) with late-detected DDH treated by open reduction. Acetabular index (AI), Tönnis grade, Center Edge Angle (CEA), avascular necrosis of the femoral epiphysis (AVN), and Severin radiographic grade were evaluated on radiographs. Hip function was rated according to modified Outcome Evaluation Standard for Congenital Dislocation of the Hip with a maximum score of 15. According to type of surgery, patients were divided into four groups: open reduction alone (Group A), open reduction in conjunction with pelvic osteotomy (Group B), and open reduction in conjunction with femoral osteotomy and Pemberton/Salter (Group C) or Bernese-type triple pelvic osteotomy (Group D). Analysis of variance (ANOVA), t-test, chi-square test, and multivariate regression analysis were used to evaluate the independent risk factors of unsatisfactory hip function. RESULTS: The mean hip function score was 10.8±2.8 (4.5-15); 61 hips (62.2%) had satisfactory function (23 [23.5%] excellent and 38 [38.8%] good), while 37 hips (37.8%) had unsatisfactory function (16 [16.3%] fair and 21 [21.4%] poor). Spearman correlation analysis indicated that age at surgery was negatively correlated with function score (r=-0.326, p=0.001). The age of patients with satisfactory hip function (34.5±14.2 months; range, 19.4-74.8) was significantly lower than those with unsatisfactory function (43.7±21 months; range, 20.6-95.3) (p=0.011). The hip function score in Group A (14.2±0.8; range, 12.8-15) was significantly higher than in the other three groups (p<0.001). Hip function score in patients with type III or IV AVN was significantly lower than those without AVN, or with type II AVN (p=0.001). Multivariate regression analysis confirmed age at surgery, type of surgery and AVN were negatively correlated with hip function score. Logistic regression analysis and chi-square test confirmed age and type of surgery, and AVN were independent risk factors of unsatisfactory hip function. Multivariate regression analysis found ability to squat and amount of hip flexion and abduction, significantly decreased with age at surgery; while presence of limping, amount of hip flexion, abduction, adduction and external rotation significantly decreased with type of surgery. DISCUSSION: Age at surgery, type of surgery and severe AVN are independent risk factors for unsatisfactory hip function in patients with late-detected DDH treated by open reduction. The ability to squat, the amount of hip flexion and abduction are the main functional parameters affected by age and surgery. LEVEL OF EVIDENCE: IV, case series.

Does the size of the femoral head correlate with the incidence of avascular necrosis of the proximal femoral epiphysis in children with developmental dysplasia of the hip treated by closed reduction?

PURPOSE: The purpose of this study was to identify if any correlation between size of the proximal femoral epiphysis and avascular necrosis (AVN) exists. METHODS: We retrospectively reviewed 111 patients with developmental dysplasia of the hip treated by closed reduction (124 hips). The diameter and height of both femoral head and ossific nucleus were assessed on preoperative MRI. RESULTS: The diameter and the height of the femoral head as well as of the ossific nucleus of the contralateral side were significantly greater than the dislocated side. AVN occurred in 21 (16.9%) out of 124 hips. The rate of AVN gradually decreased with age: 30.0% at six to 12 months, 18.2% at 12 to 18 months and 3.7% at 18 to 24 months. Spearman correlation analysis showed that age is negatively correlated with the incidence of AVN (r = -0.274; p = 0.002) and the diameter of the femoral head has a significantly negative association with the incidence of AVN (r = -0.287; p = 0.001). No significant association was observed between the incidence of AVN and height of the femoral head or size of the ossific nucleus. Hips with AVN were significantly smaller than hips without AVN. CONCLUSIONS: The size of both the femoral head and the ossific nucleus increase with age although the dislocated femoral head is smaller compared with the contralateral side. The diameter of the femoral head and not the size of the ossific nucleus negatively correlate with the risk of AVN, with a bigger femoral head showing lower risk of AVN. LEVEL OF EVIDENCE: III.

Variables influencing the pelvic radiological evaluation in children with developmental dysplasia of the hip managed by closed reduction: a multicentre investigation.

PURPOSE: This study aims to evaluate (1) the probability to achieve normal pelvic radiographs in children with developmental dysplasia of the hip (DDH) treated by closed reduction and (2) the amount of time needed to achieve normal pelvic radiographs and to assess what factors influence both probability and time to achieve normal radiographic parameters following CR and spica cast immobilization for DDH. METHODS: We retrospectively reviewed 436 patients (393 girls, 43 boys; 507 hips) with DDH treated by closed reduction (CR). Tönnis grade, AVN, acetabular index (AI), centre-edge angle (CEA), and Severin radiographic grade were evaluated on plain radiographs. Criteria to rate pelvis radiographs as normal were established. Cox regression was used to evaluate the factors influencing the probability and the time to achieve normal radiographs. RESULTS: According to our criteria, 167 hips (32.9%) achieved normal radiographic parameters during follow-up. The overall amount of time to achieve normal pelvis radiographs was 36.1 ± 15.5 months. Patients older than 24 months of age at the time of CR needed longer time to achieve normal radiographic parameters (55.2 ± 28 months) compared with other age groups. Cox regression analysis suggested the overall cumulative probability of recovery increased by 46% at five years following CR, then it tended to plateau with an annual increase less than 5%. Age older than 24 months, bilateral dislocation, pre-operative AI greater than 40°, and AVN were risk factors for reduced probability of achieving normal radiographic parameters. CONCLUSIONS: The cumulative probability of achieving normal pelvis radiographs increases linearly during the first five years following CR, then it tends to plateau. Age older than 24 months and Tönnis grade III and IV are associated with longer time to achieve normal radiographic parameters. Age older than 24 months, bilateral dislocation, pre-operative AI greater than 40°, and AVN are risk factors for reduced probability of achieving normal radiographic parameters in children with DDH treated by closed means.

Dynamic 3D Reconstruction of Thoracic Cage and Abdomen in Children and Adolescents With Scoliosis: Preliminary Results of Optical Reflective Motion Analysis Assessment.

BACKGROUND: In patients with untreated scoliosis or in those with posterior spinal instrumented fusion (PSF), the movements of neither the thoracic cage (ThC) nor the abdomen (ABD) during quiet and deep breathing have been well defined in the literature. The purpose of this study was to evaluate kinematic variations in the ThC and ABD during quiet and deep breathing by optical reflective motion analysis (ORMA) in children with scoliosis. METHODS: The study included 6 healthy children (group A), 7 subjects with untreated scoliosis over 50 degrees (group B), and 8 patients with scoliosis treated by PSF (group C). After anthropometric measurements (standing height, sitting height, arm span, chest perimeter, body weight, body mass index, T1-T12, and L1-L5 length) were obtained, the movements of subjects during quiet and deep breathing were measured with a 10-camera 3-dimensional ORMA system (82 markers) with the subjects in a standard standing position. RESULTS: No significant differences were observed in sex, age, weight, height, or arm span (P>0.05). Significant differences were observed in the chest perimeter, Cobb angle, and body mass index (P<0.05). ThC and ABD movements during quiet and deep breathing decreased significantly in group B and C when compared with group A (P<0.05). Group B showed decreased expansion of the ThC (-52.4% to -58.3%) and relatively increased motion of the ABD compared with groups A and C (P<0.001). However, ABD expansion remained lower in group B than in groups A and C (-32.8% and -5.7%). PSF does not completely eliminate transverse plane kinematics, although a greater reduction was observed at instrumented than noninstrumented levels (-60.8% vs. -35.1%; P<0.05). CONCLUSIONS: ORMA is a useful tool for assessing alterations in the kinematics of the ThC and ABD caused by severe scoliosis and/or PSF. Compared with normal subjects, patients with severe scoliosis had poorer and less effective kinematics of the ThC and ABD. In contrast, operated subjects had better and more effective kinematics of the ThC and ABD, breathing curves, thoracic expansion, and abdominal movements closer to normal compared with patients with severe, untreated deformity. LEVEL OF EVIDENCE: Level III.

Eosinophilic Granuloma of the Thumb Presenting in a 4-Month-Old Child: Case Report and Review of the Literature.

Eosinophilic granuloma (EG) is a benign bone tumor of unknown origin usually seen in children. It is typically found in flat and long bones of the skull and of the appendicular skeleton, respectively. Small bones are rarely affected. The diagnosis and treatment of EG can be challenging as differential diagnosis includes several disorders that can cause osteolytic lesions. Moreover, surgical treatment can be difficult due to the small size of the bone and surrounding structures. Here we describe a case of EG of the proximal phalanx of the thumb (P1 D1) presenting in a 4-month-old boy with persistent swelling and limited range-of-motion of the interphalangeal joint in the left thumb. Over a 6-year follow-up, no sign of relapse was observed. Moreover, the curetted bone did regenerate, and it appeared homogenously dense as normal trabecular bone on the last plain radiographs; the patient was symptom-free at the last follow-up visit. Clinical presentation, treatment, pathoanatomy, localization, and complication of this form of tumor are discussed, and all previously reported cases are reviewed to give a more comprehensive picture of EG of the hand and fingers.

A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30 years.

The genetic cause of idiopathic congenital talipes equinovarus (ICTEV) is largely unknown. We performed a systematic review to describe the findings from 21 studies that have examined the genetic variants related to ICTEV, and to evaluate the quality of reporting. We found that ICTEV was positively associated with Hox family genes, collagen family genes, GLI3, N-acetylation genes, T-box family genes, apoptotic pathway genes, and muscle contractile family genes. Negative and controversial results were also discussed, and several genes associated with ICTEV were identified. Due to the limitation of the included studies, rare coding variants should be further investigated, sample size should be enlarged, and candidate genes should be replicated in larger ICTEV populations. Epigenetic study, pathways, chromosome capture, and detailed gene-environment interaction will also allow further elucidation of factors involved in ICTEV pathogenesis and may shed light on diagnosis and timely and accurate interventions.