Palliative arthroscopic debridement with continuous irrigation for infected total knee arthroplasty in high mortality risk patients.

PURPOSE: This study aimed to evaluate the infection control rate of palliative arthroscopic debridement, antibiotics, and implant retention (DAIR) for the high mortality risk or terminal cancer stage patients. METHODS: From March 2018 to August 2021, 21 patients met the following inclusion criteria: old age of more than 80, diagnosed as a terminal stage of cancer, high risk of mortality and morbidity representing as Charlson comorbidity index (CCI) ≥ 5, low daily activity with disabled extremity, and re-infection after two-stage revision. Each patient underwent arthroscopic DAIR and additional continuous irrigation for 48 hours. The need for subsequent re-arthroscopic DAIR or two-stage revision was determined by the post-operative trends of C-reactive protein (CRP) levels. Infection control was defined as continuing controlled status of infection based on clinical and laboratory results by one or two times of arthroscopic DAIR within initial two months. Treatment failure was defined as more than three times arthroscopic debridement, two-stage revision surgery, or expired due to uncontrolled infection. RESULTS: Arthroscopic DAIR controlled the infection in 19 (90.5%) of the 21 cases. The other knee underwent a total of three times of re-arthroscopic DAIR and the other one underwent two-stage revision. Although five patients expired during the follow-up period due to worsening medical problems or terminal cancer, there were no deaths from uncontrolled infection, sepsis, or surgery-related complications. CONCLUSIONS: Arthroscopic debridement with continuous irrigation for the infection TKA with high mortality risk or terminal cancer patients showed a 90.5% infection control rate. For high-risk patients, arthroscopic debridement with continuous irrigation can be an alternative treatment to improve the quality of life during survival.

State of the Art: The Immunomodulatory Role of MSCs for Osteoarthritis.

Osteoarthritis (OA) has generally been introduced as a degenerative disease; however, it has recently been understood as a low-grade chronic inflammatory process that could promote symptoms and accelerate the progression of OA. Current treatment strategies, including corticosteroid injections, have no impact on the OA disease progression. Mesenchymal stem cells (MSCs) based therapy seem to be in the spotlight as a disease-modifying treatment because this strategy provides enlarged anti-inflammatory and chondroprotective effects. Currently, bone marrow, adipose derived, synovium-derived, and Wharton's jelly-derived MSCs are the most widely used types of MSCs in the cartilage engineering. MSCs exert immunomodulatory, immunosuppressive, antiapoptotic, and chondrogenic effects mainly by paracrine effect. Because MSCs disappear from the tissue quickly after administration, recently, MSCs-derived exosomes received the focus for the next-generation treatment strategy for OA. MSCs-derived exosomes contain a variety of miRNAs. Exosomal miRNAs have a critical role in cartilage regeneration by immunomodulatory function such as promoting chondrocyte proliferation, matrix secretion, and subsiding inflammation. In the future, a personalized exosome can be packaged with ideal miRNA and proteins for chondrogenesis by enriching techniques. In addition, the target specific exosomes could be a gamechanger for OA. However, we should consider the off-target side effects due to multiple gene targets of miRNA.

Metallosis after using distal fibular locking plate for lateral malleolar fractures: a retrospective study.

INTRODUCTION: Studies regarding the development of metallosis following open reduction and internal fixation (ORIF) of fractures are rarely found in orthopedic literature. The aim of the current study was to assess metallosis following ORIF using distal fibular locking plates to treat distal fibular fractures. MATERIALS AND METHODS: 69 patients who underwent surgery using locking compression plates to treat lateral malleolar fractures, with a minimum 1-year follow-up period and subsequent hardware removal were enrolled in our study. We divided the patients into 2 groups, to compare the complications and demographics: 38 patients, treated with ZPLP plate; 31 patients, treated with other plates. RESULTS: During 1 year of postoperative follow-up, 20 complications developed: 6 superficial infections at the operative site, 1 case of nonunion, 3 cases of osteitis, 4 cases of hypaesthesia, 2 cases of peripheral neuropathy, and 4 cases of metallosis. No statistical difference was found in the rate of complications when comparing the treatment groups (Mann-Whitney U test, p < .05) except for metallosis. All 4 patients who developed metallosis were treated using a ZPLP plate, and metallosis did not develop at all in patients who underwent surgery using other plates. CONCLUSION: In our study, metallosis developed more than was previously known, particularly after using LCPs to treat lateral malleolar fractures. Our findings and those in recent publications support the possibility that metallosis can occur not only in patients with arthroplasties, but also in patients with open reduction and internal fixation with LCPs. Surgeons should be aware of such risk of metallosis and be careful to select proper plates for internal fixation.

Optimal Release Timing of Drain Clamping to Reduce Postoperative Bleeding after Total Knee Arthroplasty with Intraarticular Injection of Tranexamic Acid.

Background and Objectives: Intraarticular injection of tranexamic acid (IA-TXA) plus drain-clamping is a preferred method of reducing bleeding after total knee arthroplasty (TKA). However, no consensus has been reached regarding the timing of the clamping. The purpose of this study was to determine the optimum duration of drain-clamping after TKA with IA-TXA. Materials and Methods: We retrospectively reviewed 151 patients that underwent unilateral TKA with IA-TXA plus drain-clamping for 30 min, 2 h, or 3 h. The total drained volume was reviewed as the primary outcome, and hematocrit (Hct) reductions, estimated blood loss (EBL), transfusion rates, and wound complications were reviewed as secondary outcomes. Results: The mean total drained volume, Hct reduction, and EBL were significantly less in the 3 h group than in the 30 min group. Between the 2 h and 3 h groups, there was no statistical difference in the mean total drained volume, Hct reduction, or EBL. The proportion of patients who drained lesser than 300 mL was high in the 3 h group. No significant intergroup difference was observed for transfusion volume, transfusion rate, and wound related complications. Conclusions: In comparison of the IA-TXA plus drain-clamping after TKA, there was no difference in EBL between the 2 h group and the 3 h group, but the amount of drainage volume was small in the 3 h group.

Associations between MRI findings and symptoms in patients with chronic ankle sprain.

Magnetic resonance imaging (MRI) provides an accurate method of observing and diagnosing injuries of the ligament complex of the ankle. However, the association between ankle symptoms and MRI findings has been unclear. The purpose of the present study was to evaluate the relationship between ankle pain and MRI findings. This prospective study included 40 patients with ankle pain after inversion injury and 10 healthy volunteers. Correlations among the ankle symptoms (tenderness on the anterior talofibular ligament, pain during varus stress in a neutral and plantarflexed ankle), and MRI findings were analyzed. A complete tear of the anterior talofibular ligament correlated with ankle pain during varus stress in the neutral position (r = 0.365, p = .031) and tenderness at the anterior talofibular ligament (r = 0.362, p = .032). The results of our study suggest that a complete tear of the anterior talofibular ligament will correlate with lateral ankle pain.

Preliminary findings of morphometric analysis of ankle joint in Korean population.

The clinical success of ankle joint arthroplasty depends on the availability of information on the morphology of the relevant bones. Thus, the implant design and surgical technique should be adjusted to the ankle morphology. However, few reports have described the characteristics of ankle morphometry in Korean populations. The present study evaluated the characteristics of ankle morphometry in a Korean population sample. Weightbearing ankle radiographs of 100 Korean patients were retrieved, and 13 representative indexes were measured after establishing the reliability of the measurements. Ankle morphometry was analyzed in terms of (1) size diversity, (2) aspect (anteroposterior/mediolateral) ratio, (3) distal anteroposterior inclination angle, and (4) complication-related anatomy. The measurements were compared with those of previous studies of white populations. In terms of size diversity, the ankle morphometry in Koreans was smaller in all parameters, except for the talar width. Koreans had a different aspect ratio than whites. The increase in the distal anteroposterior inclination angle was statistically significant (p < .001), and complication-related indexes were also significantly increased. In addition to the smaller dimensions in Korean populations, surgeons should be aware of the characteristics of Korean patients, such as the steep slope and vulnerability to iatrogenic malleolar fractures.

Correlation between stress shielding and clinical outcomes after total hip arthroplasty with extensively porous coated stems.

Relations between stress shielding and the clinical outcomes of total hip arthroplasty(THA) remain topics of debate. This study was performed on 51 patients that underwent unilateral primary THA with an extensively porous coated stem. Contralateral normal femurs were used as controls. Dual energy x-ray absorptiometry data was used to quantify bone mineral density(BMD) on proximal femurs. Clinical outcomes were estimated by using Harris hip scores (HHSs). BMD in operated sides were lower than in control sides. HHS and pain scores were not related to BMD changes. An extensively porous coated stem can be used for THA and that concerns regarding the effects of stress shielding of the proximal femur are unwarranted.

The natural history of asymptomatic osteonecrosis of the femoral head.

PURPOSE: To observe the natural history of asymptomatic osteonecrosis of the femoral head, and to analyse the associations between the subsequent development of symptoms, epidemiological risk factors and the character of the lesions. METHODS: Sixty-eight patients were diagnosed with asymptomatic osteonecrosis of the femoral head. The patients were classified based on the development of symptoms. Relations were sought between symptom development and epidemiological risk factors, and the size and location of the necrotic lesions. RESULTS: Thirty-eight patients developed symptoms (55.9%) at a mean 2.27 years after diagnosis. Symptoms developed in 18 of 28 patients with alcohol-related necrosis (64.3%), in eight of 14 patients with steroid-related necrosis (57.1%), and in 12 of 26 patients with idiopathic necrosis (46.2%). None of the following: gender, age, body mass index (BMI), smoking status, or cholesterol level, was found to be significantly associated with the development of symtoms in asymptomatic osteonecrosis of femoral head (ONFH). Duration and amount of exposure to steroid were not significantly associated with symptom development. In the groups of heavy alcohol drinkers, large necrotic lesions and laterally located lesions showed a higher prevalence of symptom development. CONCLUSION: Symptoms developed in 55.9% of asymptomatic osteonecrosis of the femoral head. Prevalence of symptom development was significantly higher in heavy alcohol drinkers and large-sized lateral lesions.

Prophylactic femoral varization osteotomy for contralateral stable hips in non-ambulant individuals with cerebral palsy undergoing hip surgery: decision analysis.

AIM: This study was undertaken to determine the need for concurrent prophylactic femoral varization osteotomy (FVO) of contralateral stable hips at the time of hip reconstructive surgery on unstable hips in non-ambulant individuals with cerebral palsy (Gross Motor Function Classification System levels IV and V). METHOD: A decision analysis model was constructed that included (1) the probability of unstable hips during observation of the contralateral stable hips, (2) unstable hip rate (subluxation or dislocation rate) after prophylactic FVO or after delayed reconstructive surgery (including FVO) for unstable hips, and (3) complication rates after concurrent prophylactic FVO or after hip reconstructive surgery. The final outcome score was based on pain utility measures. The probabilities of all cases and the utility score were obtained by literature review. RESULTS: The decision model favoured concurrent prophylactic FVO for the contralateral stable hips over observation (pain utility measure scores 0.814 vs 0.781). In a one-way sensitivity analysis, the decision model favoured concurrent prophylactic FVO when the unstable hip rate of contralateral stable hips during observation was 27% or over. Concurrent prophylactic surgery also demonstrated higher utility scores than observation when the unstable hip rate after FVO was between 0% and 29%. INTERPRETATION: The decision analysis model demonstrated that concurrent prophylactic FVO for a contralateral stable hip in individuals with cerebral palsy undergoing hip reconstructive surgery was beneficial from a medical perspective, which was based on current evidence.

Rasch analysis of the pediatric outcomes data collection instrument in 720 patients with cerebral palsy.

BACKGROUND: The pediatric outcomes data collection instrument (PODCI) was originally developed to carry out a functional assessment of children and adolescents (including patients with cerebral palsy), focusing on musculoskeletal health. Validated questionnaires are important for assessing the functional outcome of cerebral palsy, and are meant to have unidimensionality, proper item gap, no ceiling and floor effects, and no item redundancy. The advances in health measurements have led to the application of Rasch analysis to assess questionnaires. This study evaluated PODCI in patients with cerebral palsy using Rasch analyses. METHODS: The study included a total of 720 patients with gross motor function classification system level I to III, 192 with unilateral involvement and 528 with bilateral involvement. Rasch analysis was performed to obtain information on (1) the information weight fit statistic to assess the unidimensionality and redundancy of the items in each domain; (2) average item calibration to detect the item separation; and (3) item map to evaluate the ceiling and floor effects. RESULTS: The PODCI worked best in the sports/physical function domain. In information weight fit statistics, there were 4 items violating unidimensionality, which included "putting on his/her coat" in transfer/basic mobility and "getting together and do things with friends" in sports/physical function. There were 4 items with item redundancy. Inadequate item separation was observed in the transfer/basic mobility domain. A ceiling effect was found in all domains, except for the sports/physical function. CONCLUSIONS: The sports/physical function domain in PODCI generally satisfies the requirements of Rasch item response theory and is an appropriate measure of the function in cerebral palsy. Although some individual items do not fit well, the PODCI can be improved by eliminating the redundant items and by adding more difficult tasks to fill in the gaps. LEVEL OF EVIDENCE: Level II.

Treatment of Vancouver Type B Periprosthetic Femoral Fractures Using Cortical Strut Allografts.

Introduction: The optimal surgical treatment for Vancouver B2 and B3 fractures has not been determined, and bone defects and delays in fracture healing significantly affect treatment outcomes. Some authors have argued that when a serious bone defect is present, the use of cortical strut allografts for the treatment of type B2 and B3 periprosthetic femoral fractures (PFFs) after hip joint replacement may be beneficial. This study aimed to determine the usefulness of cortical strut allografts based on mid-to long-term clinical radiologic results after surgical treatment of Vancouver B-type PFFs. Methods: We retrospectively reviewed the outcomes of 48 patients with postoperative PFFs. The mean duration of follow-up was 6.7 years. The 22 patients were treated with cortical strut allograft. Each case was characterized and described in detail, including the length of allograft and the union period, and possible correlations between allograft length and strut-to-host bone union were analyzed. Clinical evaluations included Parker mobility and Harris hip scores. At the final follow-up, we assessed the radiological results using the Beals and Tower's criteria, stem subsidence, and fracture union time. Results: All 48 fractures united at an average of 21.5 weeks, and strut-to-host bone union was typically observed within 32 months. No positive correlation was identified between the allograft length and incorporation period. There was one deep infection and four cases of dislocation, but there was no fracture or malunion of the cortical strut allografts. No evidence of femoral loosening was observed in any of the patients. Conclusion: Cortical strut allografts used to treat type B PFFs showed high rates of bone union and survival. In mid-to long-term follow-up, the cortical strut allograft length did not affect to incorporation time. The author concluded that cortical strut allografts are useful treatment for PFFs regardless subtype classification of the Vancouver type B.

Results of Hip Arthroplasty Using a COREN Stem at a Minimum of Ten Years.

Purpose: We report on the 10-year clinical hip function and radiologic outcomes of patients who underwent hip arthroplasty using a COREN stem. Materials and Methods: A consecutive series of 224 primary cementless hip arthroplasty implantations were performed using a COREN stem between 2009 and 2011; among these, evaluation of 128 hips was performed during a minimum follow-up period of 10 years. The mean age of patients was 65.4 years (range, 40-82 years) and the mean duration of follow-up was 10.8 years (range, 10-12 years). Evaluation of clinical hip function and radiologic implant outcomes was performed according to clinical score, thigh pain, and radiologic analysis. Results: Dramatic improvement of the mean Harris hip score (HHS) from 59.4 preoperatively to 93.5 was observed at the final follow-up (P≤0.01). Stable fixation was demonstrated for all implants with no change in position except for one case of Vancouver type B2 periprosthetic femur fracture. A radiolucent line (RLL) was observed in 16 hips (12.5%). Thigh pain was observed in only two hips (1.6%) at the final follow-up. There were no cases of osteolysis around the stem. The survival rate for the COREN stem was 97.7%. Conclusion: Good long-term survival with excellent clinical and radiological outcomes can be achieved using the COREN femoral stem regardless of Dorr type.

Effectiveness of continuous femoral nerve block for pain relief after total knee arthroplasty: comparison with epidural patient-controlled analgesia and periarticular injection.

OBJECTIVE: To compare the clinical outcomes among three analgesic techniques, continuous femoral nerve block (CFNB), epidural patient-controlled analgesia (EPCA) and periarticular injection (PAI), in patients undergoing total knee arthroplasty (TKA). METHODS: This retrospective case-control study enrolled patients that underwent TKA. Visual analogue scale (VAS) pain scores, sleep disturbance, additional opioid consumption and incidence of opioid-related side-effects were assessed. RESULTS: A total of 120 patients were categorized into three groups: EPCA (group A, n = 40), PAI (group B, n = 40) and CFNB (group C, n = 40). Group C had significantly lower VAS pain scores than groups A and B at 8, 12 and 24 h after TKA. There were no significant differences in VAS pain scores among the three groups from 48 h after TKA. Sleep quality on the first day after surgery was significantly better in group C than in groups A and B. Additional opioid consumption was significantly lower in the group C than in the groups A and B. Group C showed a lower rate of opioid-related side-effects than groups A and B. CONCLUSION: CFNB was a more effective additional analgesic technique than EPCA or PAI for acute postoperative pain control within 24 h of TKA.

Validity of gait parameters for hip flexor contracture in patients with cerebral palsy.

BACKGROUND: Psoas contracture is known to cause abnormal hip motion in patients with cerebral palsy. The authors investigated the clinical relevance of hip kinematic and kinetic parameters, and 3D modeled psoas length in terms of discriminant validity, convergent validity, and responsiveness. METHODS: Twenty-four patients with cerebral palsy (mean age 6.9 years) and 28 normal children (mean age 7.6 years) were included. Kinematic and kinetic data were obtained by three dimensional gait analysis, and psoas lengths were determined using a musculoskeletal modeling technique. Validity of the hip parameters were evaluated. RESULTS: In discriminant validity, maximum psoas length (effect size r = 0.740), maximum pelvic tilt (0.710), maximum hip flexion in late swing (0.728), maximum hip extension in stance (0.743), and hip flexor index (0.792) showed favorable discriminant ability between the normal controls and the patients. In convergent validity, maximum psoas length was not significantly correlated with maximum hip extension in stance in control group whereas it was correlated with maximum hip extension in stance (r = -0.933, p < 0.001) in the patients group. In responsiveness, maximum pelvic tilt (p = 0.008), maximum hip extension in stance (p = 0.001), maximum psoas length (p < 0.001), and hip flexor index (p < 0.001) showed significant improvement post-operatively. CONCLUSIONS: Maximum pelvic tilt, maximum psoas length, hip flexor index, and maximum hip extension in stance were found to be clinically relevant parameters in evaluating hip flexor contracture.

Transcultural adaptation and validation of the Korean version of the Pediatric Outcomes Data Collection Instrument (PODCI) in children and adolescents.

BACKGROUND: Translation and transcultural adaptation of the Pediatric Outcomes Data Collection Instrument (PODCI) into Korean language was performed, and the validity was tested. METHODS: Korean version of PODCI was produced according to internationally accepted guideline, which included preparation, forward translation, reconciliation, back translation, review of back translation and harmonization, cognitive debriefing and review, and proof reading process. Eighty-two child controls (aged 5 to 10 y), 92 adolescent controls (aged 10 to 18 y), and 30 children with cerebral palsy (aged 5 to 10 y) undergoing single event multilevel surgery were included, and their parents also participated. Each subscale of Korean PODCI was tested in terms of internal consistency (Cronbach α), discriminant validity (difference of parental responses between child control and children with cerebral palsy), convergent validity (correlation between self-response and parental response in adolescent control), and responsiveness (postoperative changes of parental responses in children with cerebral palsy). RESULTS: All subscales except pain/comfort showed sufficient internal consistencies (Cronbach α > 0.7). Upper extremity/physical function, transfer/basic mobility, sports/physical functioning, and global functioning subscales showed significant discriminant validity (P < 0.001, P < 0.001, P < 0.001, and P < 0.001, respectively). Correlation between self-response and parental response in adolescent controls were significant in all subscales, being highest in transfer/basic mobility subscale (r = 0.952, P < 0.001) and lowest in happiness subscale (r = 0.548, P < 0.001). Responsiveness was significant in transfer/basic mobility (P < 0.001), sports/physical functioning (P=0.001), and global functioning (P = 0.006) subscales after single event multilevel surgery. CONCLUSIONS: Korean version of PODCI showed relevant internal consistency, discriminant validity, convergent validity, and responsiveness except for pain/comfort and happiness subscales. Care need to be taken when evaluating subjective measures, such as pain/comfort and happiness subscales. LEVEL OF EVIDENCE: Diagnostic level I.

Arthroplasty versus arthrodesis for end-stage ankle arthritis: decision analysis using Markov model.

BACKGROUND: Total ankle arthroplasty and arthrodesis are the two mainstreams of treatment for end-stage ankle arthritis. This study was performed to determine which is a better choice for ankle arthritis, using a decision analysis and Markov model to reflect the repetitive nature of revision arthroplasty. METHODS: Based on current published evidence, a decision tree was constructed to compare the clinical outcomes of total ankle arthroplasty and arthrodesis, which contained the possible clinical events and the probabilities. Total ankle arthroplasty was subject to revision arthroplasty, and a Markov model was adopted for this branch to reflect this repetitive trait of the procedure. Arthrodesis could cause adjacent arthritis, and a conventional decision analysis model was adopted for this branch. Quality well-being index score was used for clinical outcome assessment, which was the utility in the decision tree. Sensitivity analysis was performed to test the stability of the decision tree and the threshold values. RESULTS: The model favoured total ankle arthroplasty over arthrodesis in terms of quality well-being index score. Sensitivity analysis showed that the model was considerably stable, unaffected by the changes in probabilities of failure after total ankle arthroplasty and adjacent arthritis after arthrodesis. CONCLUSIONS: Based on current evidence, total ankle arthroplasty was found to be a better treatment than arthrodesis for ankle arthritis. Future development in the implant materials, improved understanding of ankle biomechanics, and surgical techniques will further enhance the clinical outcome of total ankle arthroplasty.

Measuring acetabular dysplasia in plain radiographs.

BACKGROUND: Several radiologic parameters have been used to qualify an acetabular coverage in studies determining whether an association exists between acetabular dysplasia and osteoarthritis of hip. However, it is not known which parameter is optimum for these epidemiologic studies. We evaluate the reliability, validity, and robustness of the radiologic parameters of acetabular coverage used in these studies. METHODS: Center-edge angle (CEA), acetabular depth (AD), acetabular angle (AA), acetabular roof obliquity (ARO), and roof angle (RA) were evaluated. The components of intra- and interobserver reliability were tested. The correlations between each parameter were used to depict convergent validity. The robustness of the parameters to different projection (urogram), different definitions of the lateral acetabular margin, and a differing pelvic tilt were evaluated. RESULTS: The intra- and interobserver reliabilities of CEA, AD and AA ranged from 0.777 to 0.925. The CEA, AD and AA showed acceptable validity in the correlation. The AD on the urograms was 22.0% higher than those on the standing hip radiographs (P < 0.001). When the osteophyte was included in the definition of lateral acetabular margin, the CEA and AD increased significantly (P < 0.001). In simulating pelvic tilting, the AD increased significantly with the anterior pelvic tilt (P < 0.001). The ARO and RA showed poor clinical relevance. CONCLUSION: When measuring acetabular dysplasia, the AD is unsuitable for use, because it is not robust to different projection of beam and different pelvic tilts. Furthermore, one should consider that the CEA and AA are significantly influenced by different definitions of lateral acetabular margin.

The perspectives of users and developers in designing and developing O-arm imaging system.

A questionnaire survey was performed to investigate the different knowledge of radiation exposure, awareness and expectation for O-arm imaging system between the users (orthopaedic surgeons) and the developers (engineers). A total of 93 orthopaedic surgeons and 19 engineers participated and answered the questionnaire consisting of 18 items designed for this study. The items were focused on knowlege, awareness, and expectation. Orthopaedic surgeons had higher scores for items of knowledge domains regarding radiation exposure than the engineers while the engineers were more sensitive to radiation hazards and adopted higher levels of radiation protection than orthopaedic surgeons in the awareness domain. Most engineers and orthopaedic surgeons answered that the requirements of diagnostic and intraoperative imaging systems differ. Image resolution, a low radiation exposure, and the time required for image acquisition was the top three requirements of O-arm selected by engineers. On the other hand, the top three requirements according to orthopaedic surgeons were; image resolution, expediency, and spatial occupancy. User requirements need to be reflected in developing O-arm along with basic requirements such as image resolution and low radiation exposure.

Clinical relevance of valgus deformity of proximal femur in cerebral palsy.

BACKGROUND: Proximal femoral deformity related to physis has not been studied in patients with cerebral palsy (CP). This study was performed to investigate the clinical relevance of neck shaft angle (NSA), head shaft angle (HSA), and proximal femoral epiphyseal shape in patients with CP, which represent the deformities of metaphysis, physis, and epiphysis, respectively. METHODS: Three hundred eighty-four patients with CP (mean age 9.1 y, 249 males and 135 females) were included. Extent of involvement and functional states [Gross Motor Function Classification System (GMFCS) level] were obtained. Radiographic measurements including NSA, HSA, and qualitative shape of the proximal femoral epiphysis were evaluated and analyzed according to extent of involvement and GMFCS level. Reliability and correlation with each measurement were assessed. Multiple regression test was performed to examine the significant contributing factors to migration percentage (MP) that represents hip instability. RESULTS: NSA showed excellent interobserver reliability with intraclass correlation coefficients of 0.976. Correlation with the MP was higher in the NSA (r=0.419, P<0.001) than in the HSA (r=0.256, P<0.001). NSA, HSA, and MP tended to increase with increasing GMFCS level, and proportion of valgus deformed proximal femoral epiphysis also increased with increasing GMFCS level, which means valgus deformity and unstable hips in the less favorable functional states. Multiple regression analysis revealed NSA, GMFCS level, and shape of the proximal femoral epiphysis to be significant factors affecting MP. CONCLUSIONS: NSA appeared to be more clinically relevant than HSA in evaluating proximal femoral deformity in patients with CP. Shape of proximal femoral epiphysis is believed to have clinical implications in terms of hip instability. LEVEL OF EVIDENCE: Diagnostic level II.

Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review.

BACKGROUND: KBG syndrome (OMIM #148050) is a rare, autosomal dominant inherited genetic disorder caused by heterozygous mutations in the ankyrin repeat domain-containing protein 11 (ANKRD11) gene or by microdeletion of chromosome 16q24.3. It is characterized by macrodontia of the upper central incisors, distinctive facial dysmorphism, short stature, vertebral abnormalities, hand anomaly including clinodactyly, and various degrees of developmental delay. KBG syndrome presents with variable clinical feature and severity among individuals. Here, we report two KBG patients who have different novel heterozygous mutations of ANKRD11 gene with wide range of clinical manifestations. CASE PRESENTATION: Two novel heterozygous mutations of ANKRD11 gene were identified in two unrelated Korean patients with variable clinical presentations. The first patient presented with short stature and early puberty and was treated with growth hormone and gonadotropin-releasing hormone agonist without adverse effects. He had mild intellectual disability. In targeted exome sequencing, a novel de novo frameshift variant was identified in ANKRD11, c.5889del, and p. (Ile1963MetfsX9). The second patient had severe intellectual disability with epilepsy. He had normal height and prepubertal stage at the age of 11 years. He had behavioral problems such as autism-like features, anxiety, and stereotypical movements. Whole exome sequencing (WES) was performed, and the novel heterozygous mutation, c3310dup, p. (Glu110GlyfsTer5) in ANKRD11 was identified. CONCLUSION: KBG syndrome is often underdiagnosed because of its non-specific features and phenotypic variability. Performing a next-generation sequencing panel, including the ANKRD11 gene for cases of developmental delay with/without short stature may be helpful to identify hitherto undiagnosed KBG syndrome patients.