Minimally invasive surgical technique for unstable supracondylar humerus fractures in children (Gartland type III or IV).

Background: Achieving and maintaining anatomical reduction during the treatment of pediatric humerus fractures, classified as Gartland type III or IV, presents a clinical challenge. Herein, we present a minimally invasive surgical approach using a novel and simple K-wire push technique that aids in achieving and maintaining anatomical reduction. Methods: We reviewed data of children receiving treatment for supracondylar fractures of the humerus at our hospital between January 2016 and December 2020. Patients were divided into two groups based on the method of treatment: Group 1 was treated with the K-wire push technique, and Group 2 was treated with the standard technique as described by Rockwood and Wilkins. The medical records and radiographic images were reviewed. In total, 91 patients with Gartland types III and IV fractures were included, with 37 and 54 patients in Groups 1 and 2, respectively. Results: The postoperative reduction radiographic parameters and Flynn scores at final follow-up were not significantly different between the two groups. Conclusion: The minimally invasive K-wire push technique for unstable supracondylar fractures in children is a safe and effective alternative for improving reduction. Using this technique, complications can be minimized, and the requirement for open reduction can be reduced.

Outcome Prediction Model Following Proximal Femoral Osteotomy in Legg-Calvé-Perthes Disease Using Machine Learning Algorithms.

BACKGROUND: The purpose of the current study was (1) to analyze various factors that may be associated with the outcomes of Legg-Calvé-Perthes disease (LCPD), and (2) to develop and internally validate machine learning algorithms capable of providing patient-specific predictions of which patients with LCPD will achieve relevant improvement in radiologic outcomes after proximal femoral varus osteotomy (PFVO). We examined several variables, previously identified as factors, that may influence the outcome of LCPD and developed a machine learning algorithm based on them. METHODS: In this retrospective study, we analyzed patients aged older than  6 years at the time of LCPD diagnosis who underwent PFVO at our institution between 1979 and 2015. Univariate and multivariate logistic regression analyses were used to examine the effects of variables on the sphericity of the femoral head at skeletal maturity, including age at onset, sex, stage at operation, extent of epiphyseal involvement and collapse, presence of specific epiphyseal, metaphyseal, and acetabular changes, and postoperative neck shaft angle (NSA). Recursive feature selection was used to identify the combination of variables from an initial pool of 13 features that optimized the model performance. Five machine learning algorithms [extreme gradient boosting (XGBoost), multilayer perception, support vector machine, elastic-net penalized logistic regression, and random forest) were trained using 5-fold cross-validation 3 times and applied to an independent testing set of patients. RESULTS: Ninety patients with LCPD who underwent PFVO were included in this study. The mean age at diagnosis was 7.93 (range, 6.0 to 12.33) years. The average follow-up period was 10.11 (range, 5.25 to 22.92) years. A combination of 8 variables, optimized algorithm performance, and specific cutoffs were found to decrease the likelihood of achieving the 1 or 2 Stulberg classification: age at onset ≤ 8.06, lateral classification ≤ B, 12.40 < preoperative migration percentage (MP) ≤ 22.85, Catterall classification ≤ 2, 117.4 < postoperative NSA ≤ 122.90, -10.8 < postoperative MP ≤ 6.5, 139.65 < preoperative NSA ≤ 144.67, and operation at stage 1. The XGBoost model demonstrated the best performance (F1 score: 0.78; area under the curve: 0.84). CONCLUSIONS: The XGBoost machine learning algorithm achieved the best performance in predicting the postoperative radiologic outcomes in patients with LCPD who underwent PFVO. In our population, age at onset ≤ 8.06, lateral classification ≤ B, 12.40 < preoperative MP ≤ 22.85, Catterall classification ≤ 2, 117.4 < postoperative NSA ≤ 122.90, -10.8 < postoperative MP ≤ 6.5, 139.65 < preoperative NSA ≤ 144.67, and operation at an early stage had the likelihood of achieving the spherical femoral head for the patients with LCPD that underwent PFVO. After external validation, the online application of this model may enhance shared decision-making. LEVEL OF EVIDENCE: Level III-retrospective cohort study.

Treatment of bilateral congenital extensor tendon dislocation on multiple digits with only one sagittal band reconstruction: a case report.

Bilateral congenital dislocation of the extensor tendon in the metacarpophalangeal joint is an exceedingly rare disease and often involves multiple fingers. Surgical treatment of multiple congenital extensor tendon dislocations in both hands has been reported; however, no report has clearly stated whether all fingers should be surgically treated in patients with multiple finger involvement. We report a case in which we successfully treated bilateral congenital extensor tendon dislocation on multiple digits with only one single-loop reconstruction of the sagittal band instead of operating on all involved fingers.

Relationship between Slip Severity and BMI in Patients with Slipped Capital Femoral Epiphysis Treated with In Situ Screw Fixation.

Background: Slipped capital femoral epiphysis (SCFE) is a hip disorder that occurs in adolescence before epiphyseal plate closure, causing anatomical changes in the femoral head. Obesity is known to be the single most important risk factor for idiopathic slipped capital femoral epiphysis (SCFE), which is highly related to mechanical factors. Meanwhile, as increased slip angle increases major complications in patients with SCFE, slip severity is an important factor to evaluate prognosis. In obese patients with SCFE, higher shear stress is loaded on the joint, which increases the likelihood of slip. The study aim was to assess the patients with SCFE treated with in situ screw fixation according to the degree of the obesity and to find any factors affecting the severity of slip. Methods: Overall, 68 patients (74 hips) with SCFE who were treated with in situ fixation screw fixation were included (mean age 11.38, range: 6-16) years. There were 53 males (77.9%) and 15 females (22.1%). Patients were categorized underweight, normal weight, overweight, and obese depending on BMI percentile for age. We determined slip severity of patients using the Southwick angle. The slip severity was defined as mild if the angle difference was less than 30 degrees, moderate if the angle difference was between 30 and 50 degrees, and severe if the angle difference was greater than 50 degrees. To examine the effects of several variables on slip severity, we used a univariable and multivariate regression analysis. The following data were analyzed: age at surgery, sex, BMI, symptom duration before diagnosis (acute, chronic, and acute on chronic), stability, and ability to ambulate at the time of the hospital visit. Results: The mean BMI was 25.18 (range: 14.7-33.4) kg/m2. There were more patients with overweight and obese than those with normal weight in SCFE (81.1% vs. 18.9%). We did not find significant differences between overall slip severity and degree of obesity or in any subgroup analysis. Conclusions: We did not find a relationship between slip severity and degree of obesity. A prospective study related to the mechanical factors affecting the slip severity according to the degree of obesity is needed.

A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients.

Multiple hereditary exostoses (MHE) is a rare autosomal dominant skeletal disorder with a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of MHE using our own scoring system and analyzed the risk factors associated with severe clinical phenotypes. In this study, 43 patients from 30 families were analyzed. The mutations were identified by direct sequencing of polymerase chain reaction-amplified genomic DNA or by multiplex ligation-dependent probe amplification. According to a new scoring system devised by the authors, the severity of the phenotype was assessed as mild, moderate, or severe based on the deformity of each segment, number of exostoses, leg length discrepancy, and functional limitations. Of 43 patients from 30 families, 39 patients (90.7%) and 24 families (80%) presented with EXT1 or EXT2 mutations. Patients with EXT1 mutations had a significantly worse phenotype than that of patients with EXT2 mutations or without any detectable mutation. The mean clinical score of patients with an EXT1 mutation (5.76; range, 2.0-8.0; SD = 1.60) was higher than that of patients with an EXT2 mutation (4.06; range, 2.0-7.0; SD = 1.47) or of those without any detectable mutation (4.63; range, 3.0-6.0; SD = 1.44; p = 0.005). According to our classification system, more patients with EXT1 mutations had 'severe disease' than those with EXT2 mutations. Deformity scores were also higher in patients with EXT1 mutations (p = 0.018). In the multivariate analysis, the deformity score was found to be associated with the 'severe' class (p = 0.031). In conclusion, 90.7% of patients with MHE showed EXT mutations. Our scoring system showed reliable results. We suggest that the extent of deformity is an important factor in determining the phenotype of MHE and close monitoring for the development of severe disease is recommended in patients with high deformity scores.

Effect of Postoperative Femoral Neck Shaft Angle on Femoral Head Sphericity Following Proximal Femoral Osteotomy in Legg-Calve-Perthes Disease.

BACKGROUND: Herein, we aimed to examine the relationship between the postoperative neck shaft angle (NSA) and the Stulberg outcome at skeletal maturity in patients with Legg-Calvé-Perthes disease (LCPD) who underwent proximal femoral varus osteotomy (PFVO) and to determine the optimal angle of varization. METHODS: In this retrospective study, we analyzed the data of 90 patients aged older than 6 years at the time of diagnosis with LCPD who underwent PFVO at our institution between 1979 and 2014. Univariate and multivariate logistic regression analyses were used to examine the effects of variables on the sphericity of the femoral head at skeletal maturity, including the age at onset, sex, stage at operation, extent of epiphyseal involvement and epiphyseal collapse, presence of specific epiphyseal, metaphyseal, and acetabular changes, and postoperative NSA. The sphericity of the femoral head on the final plain follow-up radiographs of the hip joint at skeletal maturity was assessed using the Stulberg classification. Cases of spherical femoral head (Stulberg I or II) were rated as good, whereas those of ovoid or flat femoral head (Stulberg III, IV, or V) were rated as bad. RESULTS: The mean age at diagnosis was 7.93 (range, 6.0-12.33) years. The average follow-up period was 10.11 (range, 5.25-22.92) years. The pre and postoperative mean NSAs were 137.31±6.86 degrees (range, 115.7-158 degrees) and 115.7±9.83 degrees (range, 88.6-137.6 degrees), respectively. The age at diagnosis, lateral pillar classification, and postoperative NSA were found to be closely related to the sphericity of the femoral head at skeletal maturity. Patients with a postoperative NSA of <105 degree or more than 125 degree were less likely to have a spherical femoral head. CONCLUSIONS: Our study showed that patients with a postoperative NSA between 105 and 125 degrees were more likely to have a spherical femoral head. When performing PFVO in patients with LCPD, reasonable varus angulation of PFVO should be taken into consideration for the success of the operation. LEVEL OF EVIDENCE: Level III retrospective cohort study.

Characteristics of Giant Cell Tumor of the Bone in Pediatric Patients: Our 18-Year, Single-Center Experience.

A giant cell tumor (GCT) of the bone is characteristically found in skeletally mature patients. The tumor is rare in pediatric patients, and incidence reported in literature varies from 1.8% to 10.6%. We performed a retrospective study addressing symptoms, treatment, and outcome in pediatric patients who were diagnosed with GCT between March 1997 and January 2015 at our hospital. Fourteen (11.1%) of 126 surgically treated patients with histologically proven GCT were <19 years of age. We confirmed skeletal maturity using magnetic resonance imaging (MRI). Fourteen patients from 8 to 19 years old were identified. Sixteen lesions (76.2%) were found in long bones and 5 lesions (23.8%) in short bones. The most common site was around the knee in 8 patients (38%). GCTs mostly occur at the epi-metaphysis in 11 patients (52.3%). Regardless of the openness of epiphyseal plate, we observed GCT of bone in the epiphysis. Further study will be needed to prove the association between the presence of epiphyseal plate and location of tumor. Three patients (21.4%) had multicentric lesions, and four patients (28.5%) had local recurrence. Multicentric giant cell tumor and local recurrence occur more often in pediatric patients. The characteristics of GCT in pediatric patients do not differ from what is reported for GCT in adults.

Differences in Kinematic and Kinetic Patterns According to the Bone Tumor Location after Endoprosthetic Knee Replacement Following Bone Tumor Resection: A Comparative Gait Analysis between Distal Femur and Proximal Tibia.

Modular endoprostheses are frequently used to reconstruct skeletal and knee defects from bone tumor resection and preserve joint function in patients with bone tumors around the knee. Depending on the tumor location, the muscles and extent of the tumor can vary, which can affect gait function. This study aimed to analyze kinetic and kinematic characteristics according to tumor location in patients with endoprosthetic knee replacements after bone tumor resection. Gait analyses were performed in 16 patients who underwent knee endoprosthesis due to tumors around the knee. We divided the patients into distal femur (n = 7) and proximal tibia (n = 9) groups and conducted between-group comparisons and comparisons with healthy participants. Compared with the control group, the distal femur group showed a tendency for knee extension, and the proximal tibia group showed increased maximal dorsiflexion during stance. The proximal tibia group maintained a flexed hip during the entire gait cycle, compared with the distal femur group. In summary, our results suggest a difference in gait between the distal femur and proximal tibia groups. Patients who have undergone knee prosthesis after knee tumor resection may require different rehabilitation strategies according to the tumor location.

Characteristics of Congenital Clasped Thumb: A Case Report and Literature Review.

Congenital clasped thumb is a progressive flexion and adduction deformity presenting with heterogeneous congenital abnormalities and syndromes. This deformity is usually accompanied by first web space narrowing and metacarpophalangeal joint (MPJ) laxity. Understanding the various features of the clasped thumb and making an accurate diagnosis is essential for treatment. Depending on the classification, treatment can vary from conservative to surgical. We describe the case of a bilateral clasped thumb with various characteristics, which were treated differently according to the disease type. The deformity of the clasped thumb was bilateral, and the patient had MPJ flexion deformity, flexor pollicis longus shortening, first web space narrowing, and MPJ instability, which were confirmed through a stress test. The left thumb was a complex type and was surgically treated, whereas, the right thumb was a flexible type, which was treated with splinting; the treatment showed promising results at 2 years post surgery. Diagnosis of the clasped thumb through thorough history taking, physical examination and considering its characteristics, and appropriate classification of the disease is essential for treatment. Furthermore, a stress test can identify MPJ instability in the congenital clasped thumb.

Results of Early Proximal Femoral Osteotomy at Skeletal Maturity in Legg-Calvé-Perthes Disease: Implication for the Bypass of Fragmentation Stage.

BACKGROUND: The aim was to assess the long-term radiographic outcomes of patients with Legg-Calvé-Perthes disease following an early proximal femoral osteotomy (PFO) performed in avascular necrosis stage or early fragmentation stage. METHODS: In this retrospective study, we analyzed data of 65 patients aged above 6 years at the time of diagnosis with unilateral Legg-Calvé-Perthes disease, following early PFO performed at our institution between 1979 and 2013. We observed the presence of bypassing fragmentation stage, which was classified into complete and incomplete. We compared radiographic outcomes between patients with bypass of fragmentation stage (26 hips) and those without (31 hips). Regarding skeletal maturity, the hips were graded according to the femoral head shapes: spherical, ovoid, or flat. RESULTS: The mean age at diagnosis was 7.9 years (range: 6.0 to 11.9 y). The average follow-up period was 11.8 years (range: 5.9 to 22.9 y). Fragmentation bypass occurred in 40.5% (26/65) of patients, with 8 (12.3%) "undetermined" cases. Patients who completely or partially bypassed fragmentation experienced significantly less severe lateral pillar collapse (P=0.016). The femoral head was also significantly more spherical in patients with bypass (P=0.024). CONCLUSIONS: Our results show that 40.5% of patients who underwent early PFO bypassed the fragmentation stage. The degree of lateral pillar collapse was lower in patients with bypass. In addition, there were significantly more patients with more spherical femoral head in the bypass group. LEVEL OF EVIDENCE: Level IV-case series.

Multi-Level Seg-Unet Model with Global and Patch-Based X-ray Images for Knee Bone Tumor Detection.

Tumor classification and segmentation problems have attracted interest in recent years. In contrast to the abundance of studies examining brain, lung, and liver cancers, there has been a lack of studies using deep learning to classify and segment knee bone tumors. In this study, our objective is to assist physicians in radiographic interpretation to detect and classify knee bone regions in terms of whether they are normal, begin-tumor, or malignant-tumor regions. We proposed the Seg-Unet model with global and patched-based approaches to deal with challenges involving the small size, appearance variety, and uncommon nature of bone lesions. Our model contains classification, tumor segmentation, and high-risk region segmentation branches to learn mutual benefits among the global context on the whole image and the local texture at every pixel. The patch-based model improves our performance in malignant-tumor detection. We built the knee bone tumor dataset supported by the physicians of Chonnam National University Hospital (CNUH). Experiments on the dataset demonstrate that our method achieves better performance than other methods with an accuracy of 99.05% for the classification and an average Mean IoU of 84.84% for segmentation. Our results showed a significant contribution to help the physicians in knee bone tumor detection.

A Study on Focused Ion Beam (FIB) Milling Machining and Fabrication Technology of Nano-Scale Diamond Tool for Machining Fine-Patterns in a Free-Form Surfaces.

Recently, the technology of the industry has been increasing for diffractive optical elements, holograms, optical components, and next-generation display components. The advanced high value-added industry is designing fine patterns on ultra-precision optical components and applying them to various industries. In the case of the ultra-fine pattern, a contact-type machining technique is required because it requires a precise pattern in nano-scale units. In this paper, the fabrication technology of ultra-precision diamond which is essential in the ultra-precision processing technology was suggested. The material used in the experiment was a single-crystal diamond tool (SCD), and the equipment for machining the SCD used a focused ion beam (FEI COMPANY, system Nova 600) equipment. The back fire method was applied without metal coating in order to carry out the process study and the focused beam of 30 keV Ga+ ions were carried out processing for various fabrication of diamond cutting tools. As a result of applying the backfire method through the process experiment, the cutting edge width of the ultra-precision diamond tool was verified 275 nm.

Does the Duration of Each Waldenström Stage Affect the Final Outcome of Legg-Calvé-Perthes Disease Onset before 6 Years of Age?

The purpose of this study was to evaluate the outcomes of patients with Legg-Calvé-Perthes disease (LCPD) with disease onset before 6 years of age who were treated with conservative methods and to identify prognostic factors. Moreover, we evaluated the duration of the Waldenström stage and its correlation with the disease outcome. Disease severity was assessed using the lateral pillar classification, and the final outcome was evaluated using the Stulberg classification. We divided patients with LCPD into two groups according to the age at onset: group 1 (<4 years) and group 2 (4-6 years). The final outcomes of the two groups were compared. We also assessed the duration of each Waldenström stage. LCPD was noted in 49 hips of 49 patients. The lateral pillar class was A in one patient, B in 29 patients, and B/C or C in 19 patients. The Stulberg class was I or II (good) in 30 patients, III (fair) in 13 patients, and IV or V (poor) in six patients. The lateral pillar class significantly correlated with the final outcome. Groups 1 and 2 comprised 25 and 24 patients, respectively. The prevalence of good outcomes did not significantly differ between the groups (p = 0.162). The duration of the initial stage was 4.1 months in the good outcome group and 6.2 months in the fair or poor outcome group. The duration of the fragmentation stage of the femoral head was 5.9 months in the good outcome group and 11.9 months in the fair or poor outcome group. The durations of initial and fragmentation stages significantly differed between good outcome group and fair or poor outcome group (p = 0.009 and p < 0.001, respectively). The prognosis of patients with disease onset before the age of 6 years was favorable. The disease severity and duration of each Waldenström stage can be predictors of the outcome. Patients with prolonged initial and fragmentation stages showed worse outcomes and often required more active treatment to shorten the durations of the initial and fragmentation stages.

Characteristics of hip impingement syndrome in patients with multiple hereditary exostoses.

BACKGROUNDS: This study aimed to investigate the characteristic deformities of the hip in multiple hereditary exostoses patients (MHE) and its association with the hip impingement syndrome. MATERIALS AND METHODS: Between 2001 and 2019, total 51 patients (102 hips) were evaluated in this study. Patients with MHE were classified to femoro-acetabular impingement (FAI) symptom group, ischio-femoral impingement (IFI) symptom group and non-impingement symptom group by comparing the symptoms, clinical signs and imaging studies. To assess the morphometry of the hip in patients with MHE, the femoral neck-shaft angle, Sharp's acetabular angle and center-edge (CE) angle were evaluated. Alpha angle was further evaluated to investigate the FAI using radiographs, and the minimum ischio-femoral distance was further measured to investigate the IFI using computed-tomographic (CT) study. RESULTS: On hip impingement symptom analysis, FAI symptom and IFI symptom were confirmed in 14 hip joints and 18 hip joints, respectively. Unlike general population, the number of the hip with IFI-symptom was higher than those with FAI symptom in this study. In morphometric evaluation of MHE hips, coxa valga was most prominent deformity with occasional tendency of mild acetabular dysplasia. In a comparison of morphometric study between the impingement symptom group and non-symptom group, the FAI symptom showed significant differences of morphometric measure values than those of the non-symptom group (FAI symptom group vs. Non-FAI symptom group; Femoral neck-shaft angle (153.9 vs 142.6), Sharp's angle (45.0 vs 41.5), CE angle (21.1 vs 28.8) and alpha angle (76.7 vs 57.9)). Similarly, the IFI symptom group also showed significant differences of morphometric measure values than those of the non-symptom group (IFI-symptom vs. Non-IFI symptom; Femoral neck-shaft angle (150.9 vs 142.7), Sharp's angle (44.7 vs 41.4), CE angle (21.1 vs 29.3) and alpha angle (73.3 vs 56.8)). In addition, the minimum ischio-femoral distance measured using CT was significantly decreased in the IFI symptom group (IFI symptom group: 6.6, Non-IFI symptom group: 16.4). CONCLUSION: The results suggest that the characteristic deformities represented by coxa valga in the MHE hip act as an offset for FAI symptoms, on the contrary, act as a trigger for IFI symptoms. LEVEL OF EVIDENCE: Level III.

Brachymetacarpia and Brachymetatarsia in Patients with Multiple Hereditary Exostosis.

BACKGROUND: Multiple hereditary exostosis is a common autosomal dominant inherited musculoskeletal disorder that manifests with multiple osteochondromas. The clinical manifestations and pathological characteristics of osteochondromas found in the long bone and genetic alterations related to multiple hereditary exostosis have been widely reported. In this study, we investigated the characteristics of brachymetacarpia and brachymetatarsia associated with multiple hereditary exostosis. METHODS: Of the 133 patients with a diagnosis of multiple hereditary exostosis who were recruited from 2005 to 2018, 101 patients who underwent plain radiography after 10 years of age were included. There were 55 male (54.5%) and 46 female (45.5%) patients. Brachymetacarpia or brachymetatarsia was diagnosed when disruption of the Lièvre parabola connecting the metacarpal or metatarsal heads was observed on plain radiographs. Three orthopedic surgeons individually reviewed hand and foot plain radiographs. RESULTS: Of the 101 patients, 41 patients (40.6%) had more than 1 brachymetacarpia (88 cases) or brachymetatarsia (81 cases). Among 41 cases, 22 (53.7%) were male and 19 (46.3%) were female. The mean age at the time of radiographic evaluation of the hands and feet was 14.6 years (range, 10-63 years). Shortening was most commonly found in the 3rd and 4th metacarpal or metatarsal bones. CONCLUSIONS: We found a relatively high incidence of brachymetacarpia and brachymetatarsia in our patients. Physicians should suspect the presence of brachymetacarpia and brachymetatarsia when treating patients with multiple hereditary exostosis.

A Study on Proposal of E-Beam Drilling Machining Criterion by Using on Vaporized Amplification Sheets in a High-Power Density Electron Beam.

As the consumer market in the mold, automation and aerospace industries grows, the demand for laser machining using on electron beam drilling. To enhance the machinability and productivity of the e-beam (electron beam), we want to develop a vaporized amplification sheet. The e-beam was used to mainly utilize for polishing, finishing, welding, a lithography process etc. However, the electron beam drilling machine does not develop in the country because it is difficult to make high power density and vaporized amplification sheets. The vaporized amplification sheets with fine particles are one of the essential factors and decided the quality of machined micro holes according to the macromolecule. So, this paper considers the preparation process of vaporized amplification sheets and the analysis of macromolecule for improving the electron beam processability and machinability efficiency. Also, we analyzed process conditions for the optimization of the electron beam machining process.

Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome.

BACKGROUND: Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, growth deficiency, intellectual disabilities, unusual dermatoglyphic patterns, and skeletal abnormalities. The incidence of hip dislocation in Kabuki syndrome ranges from 18% to 62%. We reviewed the outcomes of management of hip dislocations in patients with Kabuki syndrome with special attention to the diagnostic processes for hip dislocation and Kabuki syndrome. METHODS: Among 30 patients with mutation-confirmed Kabuki syndrome, we selected six patients who had hip dislocations and reviewed their medical records and plain radiographs. The modes of presentation and diagnostic processes for both hip dislocations and Kabuki syndrome were investigated. The management and treatment outcomes of hip dislocations in patients with Kabuki syndrome were evaluated. RESULTS: The average age of patients at the time of diagnosis of hip dislocation was 7.7 months (range, 1 week to 22 months). None of the patients were diagnosed as having Kabuki syndrome at that time. Two patients were treated with a Pavlik harness; one, with closed reduction; two, with open reduction and later pelvic and/or femoral osteotomies; and one, with open reduction combined with pelvic osteotomy. The patients were followed up for 5.8 years on average (range, 2.0 to 10.5 years). The radiologic outcome was graded as Severin IA or IB for three patients who were older than 6 years at the latest follow-up (mean age, 9.9 years; range, 7.8 to 12.4 years). In the remaining three patients younger than 6 years (mean age, 3.8 years; range, 2.7 to 5.3 years), the lateral center edge angle was more than 15°. The clinical diagnosis of Kabuki syndrome was made during follow-up after hip dislocation treatment and confirmed by mutational analysis at a mean age of 4.7 years. The mean interval between the diagnosis of hip dislocation and Kabuki syndrome was 4.0 years. CONCLUSIONS: The management of hip dislocation by conservative or surgical method showed successful results. Awareness of Kabuki syndrome could lead to an early diagnosis of this rare disease in patients with hip dislocation and allow for early detection of other underlying conditions and multidisciplinary management.

Coronal malalignment of lower legs depending on the locations of the exostoses in patients with multiple hereditary exostoses.

BACKGROUNDS: Though malalignment of lower legs is a common pathologic phenomenon in multiple hereditary exostoses (MHE), relationship between locations of exostoses and malalignment of lower legs remains unclear. This study examined radiographs of MHE patients in an attempt to evaluate the tendency of coronal malalignment of lower legs with different location of exostoses on lower legs consisting of two parallel long bones. METHODS: Between 2000 and 2017, we retrospectively reviewed the anteroposterior films of the teleo-roentgenographics of 63 patients with MHE. The patients were classified into four different groups depending on the locations of the exostosis, which occurred on both proximal and distal tibiofibular joints (A), proximal tibiofibular joint (B), distal tibiofibular joint (C), and not for the tibiofibular joint area (D). To evaluate the influence of the location of exostoses on coronal malalignment of lower legs, medial proximal tibia angle (MPTA), lateral distal tibia angle (LDTA), and fibular shortening were analyzed for each group. RESULTS: Significant difference was observed in multiple comparative analyses for each of the four groups. On MPTA radiologic analysis, group A showed greatest value with significant difference compared with groups C and D (vs. (B): p = 0.215; vs. distal joints (C): p = 0.004; vs. (D): p = 0.001). Group B showed significant difference only with group D (vs. distal joints (C): p = 0.388; vs. (D): p = 0.002), but for group C and D showed no significant difference. For LDTA, only group A showed significant difference compared to other groups (p < 0.001). With regard to tibiofibular ratio for evaluation of fibular shortening, group A showed the lowest ratio (vs. (B): p = 0.004; vs. (C): p = 0.655; vs. (D): p < 0.001). Group C also presented the significant lower ratio than group D (p = 0.002). CONCLUSIONS: For evaluation of the coronal malalignment of lower legs in MHE patients, not only ankle around the distal tibiofibular joint but also proximal tibiofibular joint should be examined, in that, lower limb deformity occurred by two parallel long bone which has self-contained joint. LEVEL OF EVIDENCE: Level III, retrospective comparative study.

Clinical analysis of patients with skeletal metastasis of lung cancer.

BACKGROUND: Many factors influence bone metastases of lung cancer, and several studies report about survival of skeletal metastasis. However, few studies have focused on identifying the prognostic factors for skeletal metastasis of lung cancer, especially following orthopedic surgery. We conducted a retrospective analysis of the clinical characteristics of skeletal metastasis from lung cancer and discuss the prognostic factors. METHODS: We performed a medical record review of 202 patients who were diagnosed with skeletal metastasis from lung cancer. Adenocarcinoma was found in 116 patients (57.4%), squamous cell carcinoma in 29 (14.4%), small-cell lung cancer (SCLC) in 37 (18.7%), and large-cell carcinoma and other types of cancer in 20 patients (9.9%). Orthopedic surgery for skeletal metastasis was performed in 41 patients (20.3%). RESULTS: Lung cancer survival was 12.1 months. After diagnosis of lung cancer, skeletal metastasis was found at a mean of 2.5 months, and skeletal metastasis survival was 9.8 months. Lung cancer survival in patients younger than 60 years was 13.8 months, and lung cancer survival in patients 60 years or older was 10.8 months (p = 0.009). Skeletal metastasis survival in patients younger than 60 years was 11.0 months, and skeletal metastasis survival in patients 60 years or older was 8.8 months (p = 0.002). Mean skeletal metastasis survival with surgery was 12.6 months and without surgery was 9.1 months (p < 0.000). In the multivariate analysis of lung cancer survival, age under 60 years [HR (95% CI) 1.549 (1.122-2.139), p = 0.008], non-small cell lung cancer pathology type [HR (95% CI) 1.711 (1.157-2.532), p = 0.008], chemotherapy for skeletal metastasis [HR (95% CI) 8.064 (3.981-16.332), p < 0.000], and radiation therapy for skeletal metastasis [HR (95% CI) 1.791 (1.170-2.742), p = 0.007] were significant, independent, good prognostic factors. In the multivariate analysis of skeletal metastasis survival, age under 60 years [HR (95% CI) 1.549 (1.124-2.134), p = 0.007], non-small cell lung cancer pathology type [HR (95% CI) 2.045 (1.373-3.047), p < 0.000], chemotherapy for skeletal metastasis [HR (95% CI) 7.121 (3.542-14.317), p < 0.000], and orthopedic surgical treatment for skeletal metastasis [HR (95% CI) 1.710 (1.148-2.547), p = 0.008] were significant, independent, good prognostic factors. CONCLUSIONS: Patients who survived longer were less than 60 years old, received chemotherapy as treatment for skeletal metastasis, had NSCLC rather than SCLC, and underwent orthopedic surgery for skeletal metastasis.

A cellular blue nevus with pigmented epithelioid melanocytoma-like pattern on the ipsilateral upper arm associated with a congenital plaque-type blue nevus on the hand.

A 36-year-old man presented with a subcutaneous nodule on the right upper arm. A small nodule had developed 8 years earlier, and grew in size, accompanied by a tingling sensation and numbness. In addition, he had a bluish irregular patch on the right hand since birth, which crossed from the palm to the dorsal hand. Skin biopsies from the hand showed a heavily pigmented melanocyte proliferation in the dermis with perieccrine, perivascular, and perineural involvement, and a diagnosis of congenital plaque-type blue nevus was made. The tumor on the arm was located closely along the median nerve, and was observed as a large black pedunculated round tumor. Histopathologically, the tumor on the arm consisted of densely packed tissue with nevoid cells without atypia in the larger nodular part, and heavily pigmented spindle and epithelioid melanocytes in the slender stalk area, which was diagnosed as cellular blue nevus with pigmented epithelioid melanocytoma-like pattern. Next-generation sequencing revealed GNAQ mutations in the hand lesion, and in the lesions on the arm. This case suggests that the areas of skin following the same neural distribution of a congenital plaque-type blue nevus on the extremities should be followed up for secondary changes.