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.

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.

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.

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.

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.

The role of fractures on pathologic bone in healing of proximal humerus unicameral bone cysts.

PURPOSE: To evaluate the role of fractures on pathologic bone in healing of proximal humerus unicameral bone cysts (UBCs) and investigate the clinical factors that affect healing of UBCs after fractures on pathologic bone. METHODS: This prospective study was carried out between 2002 and 2014. We evaluated 56 patients with a UBC accompanying fractures on pathologic bone in the proximal humerus. Clinical data were collected from the patients' medical records. Age, gender, degree of fracture displacement, location of cyst, and cyst size were investigated, and we assessed how these factors affected cyst healing. RESULTS: The overall healing rate of UBCs 1 year after fracture was 66% (37 of 56 cases). The healing rate was significantly lower in pubescent patients (10-14 years old; 45%) than in those who were 9 years old (76%) or 15 years old (80%). The rate of healing of fractures in the metaphysis (53%) was lower than that of breaks in the diaphysis (85%). The mean cyst ratio was 1.31 in the 37 patients who experienced cyst healing within 1 year and 1.79 in the 19 patients who needed surgical treatment within 1 year. CONCLUSION: In latent lesions and in patients who are older (after puberty), UBCs of the humerus after fracture have better clinical results than do active lesions and those in younger patients (before puberty). Fractures on pathologic bone in proximal humerus UBCs often dramatically decrease cyst size, and patients with such fractures have excellent clinical results in terms of healing rate.

Prognostic implications of polycomb proteins ezh2, suz12, and eed1 and histone modification by H3K27me3 in sarcoma.

BACKGROUND: Polycomb repressive complex 2 (PRC2; formed by EZH2, SUZ12, and EED protein subunits) and PRC1 (BMI1 protein) induce gene silencing through histone modification by H3K27me3. In the present study, we characterized the PRC expression pattern and its clinical implication in sarcoma. METHODS: Using immunohistochemistry, we analyzed PRC expression in 105 sarcoma patients with 5 subtypes: synovial sarcoma (n = 18), rhabdomyosarcoma (n = 28), Ewing sarcoma (n = 15), osteosarcoma (n = 30), and others (n = 14). RESULTS: The median age at diagnosis in the patient cohort was 26.8 years (range: 1-78 years) and the male-to-female ratio was 1:4. Initial disease presentation was locoregional disease in 83% of patients and initial metastatic disease in the remaining 17%. PRC expression was not significantly different according to histologic subtype (P = 0.400). Overall survival (OS) was significantly poor for SUZ12 high (P = 0.001), EED1 high (P = 0.279), and H3K27me3 high (P = 0.009). Ultimately, patients with PRC2high had significantly inferior OS than the no expression group (P = 0.009). In the Cox proportional hazard model adjusted for stage, histologic grade, surgery, margin and initial metastasis, SUZ12 expression (P = 0.020, HR 29.069, 95% CI 1.690-500.007), H3K27me3 (P = 0.010, HR 3.743, 95% CI 1.370-10.228) expression was significantly associated with shorter OS. CONCLUSION: We detected PRC expression in various sarcomas and demonstrated its independent negative prognostic role, suggesting the PRC axis as promising therapeutic target for treating sarcoma.

Diaphyseal Nonunion in Children.

OBJECTIVES: To delineate the contributing factors of diaphyseal fracture nonunion in children and to determine suggested treatment based on the cohort examined. DESIGN: Retrospective review. PATIENTS: 16 children who underwent operative treatment for diaphyseal nonunion from January 1995 to December 2009. INTERVENTION: Stabilization by internal or external fixators with or without bone grafting. MAIN OUTCOME MEASURE: Clinical reviews were evaluated by the side of the injury, mechanism of injury, time interval between injury and surgery, operation time, initial treatment type, and nonunion treatment type, and demographic date including age, sex, the presence or absence of pediatric diabetes, and follow-up duration. Radiographic evaluations were obtained to confirm the fracture site and the classification of the fracture pattern preoperatively, and they were used to postoperatively detect the type of nonunion, the time interval between the treatment of nonunion to bony union, and the residual deformity. RESULTS: The youngest patient was 6 years with the average age being 11.1 years. Only one of the patients was younger than 8 years, so the distribution was a closed interval beginning at this age. Regardless of age, 16 of the patients were likely to experience nonunion if high-energy traumas and iatrogenic soft tissue injuries caused by the open-reduction procedure were abundant at the time of the fractures. CONCLUSIONS: The frequency of occurrence was affected by the age of the patient, and it increased when there was extensive iatrogenic soft tissue or insufficient fixation at the time of fracture. Close attention should be paid when dealing with nonunion so that iatrogenic damage is not caused, and sufficient fixation should be performed with adequate tools. Also, it should be noted that it is not unusual for deformities to occur and correction for such deformities should also be considered at the time of surgery. LEVEL OF EVIDENCE: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.

An Evaluation of Forearm Deformities in Hereditary Multiple Exostoses: Factors Associated With Radial Head Dislocation and Comprehensive Classification.

PURPOSE: This study attempted to evaluate a series of patients with hereditary multiple exostoses (HME) who could not be categorized according to the widely accepted Masada classification and to identify radiographic variables such as radial bowing, ulnar shortening, ulnar variance, radial articular angle, and carpal slip predictive of deformity. METHODS: We retrospectively reviewed data on 102 upper limbs of 53 pediatric patients with HME. Demographics, site of forearm involvement, and radiographic parameters were documented. Patients with exostoses of the forearms were categorized into 6 groups based on location of the exostoses and presence or absence of a dislocated radial head. Proportional ulnar shortening was calculated as the ratio of ulnar length to radial length. RESULTS: According to the Masada classification, 4 limbs were normal, 10 were type I, 2 were type II, and 24 were type III. Sixty-six limbs were unclassifiable. We classified those 66 limbs using a modification of the Masada classification. Of the 106 limbs, 11 (10.3%) had a dislocated radial head. Based on the radiographic analysis, patients with proportional ulnar shortening of less than 0.9 had a higher risk of radial head dislocation than did those with proportional ulnar shortening of 0.9 or greater. Patients with radial bowing greater than 8.1% showed a higher frequency of radial head dislocation than did those with radial bowing of 8.1% or less. Exostoses of both the distal radius and ulna tended to increase the rate of radial head dislocation. A greater amount of negative ulnar variance caused more radial bowing and a greater radioarticular angle. CONCLUSIONS: We propose a new comprehensive forearm classification for patients with HME. Proportional ulnar shortening less than 0.9 and radial bowing 8.1% or greater can be used to predict the risk of radial head dislocation. TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.

Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV, features loss of pain sensation, decreased or absent sweating (anhidrosis), recurrent episodes of unexplained fever, self-mutilating behavior, and variable mental retardation. Mutations in neurotrophic receptor tyrosine kinase 1 (NTRK1) have been reported to be associated with CIPA. We identified four novel NTRK1 mutations in six Korean patients from four unrelated families. Of the four mutations, we demonstrated using a splicing assay that IVS14+3A>T causes aberrant splicing of NTRK1 mRNA, leading to introduction of a premature termination codon. An NTRK1 autophosphorylation assay showed that c.1786G>A (p.Asp596Asn) abolished autophosphorylation of NTRK1. In addition, Western blotting showed that c.704C>G (p.Ser235*) and c.2350_2363del (p.Leu784Serfs*79) blunted NTRK1 expression to undetectable levels. The four novel NTRK1 mutations we report here will expand the repertoire of NTRK1 mutations in CIPA patients, and further our understanding of CIPA pathogenesis.

Persistent Bleeding Following a Stapled Hemorrhoidopexy.

A stapled hemorrhoidopexy (SH) is widely used for treatment of patients with grades III and IV hemorrhoids. The SH is easy to perform, is associated with less pain and allows early return to normal activities. However, complications, whether severe or not, have been reported. Here, we present the case of a female patient with persistent bleeding after a SH. The bleeding was caused by the formation of granulation tissue at the stapler line, diagnosed with sigmoidoscopy, and successfully treated via transanal excision (TAE) under spinal anesthesia. The biopsy showed inflammatory granulation tissue. After the TAE, her symptom was completely gone.

Bone Transport for Reconstruction in Benign Bone Tumors.

BACKGROUND: The aim of this study was to assess the results of using the Ilizarov apparatus to transport bones in the treatment of benign bone tumors. METHODS: Seven patients (six males and one female) with benign bone tumors were treated by bone transport with an Ilizarov apparatus at our institution. Their mean age at surgery was 14.4 years (range, 4.8 to 36.9 years). The histological diagnoses were osteofibrous dysplasia (4), giant-cell tumor (1), intraosseous cavernous hemangioma (1), and aneurysmal bone cyst (1). Three radiological indices were used for evaluating the results: an external fixation index, a distraction index, and a maturation index. The bone and functional results were evaluated according to the Association for the Study and Application of the Method of Ilizarov classification. RESULTS: Five patients had bone union at the reconstructed site, one patient had a local recurrence, and the other had a nonunion at the docking site. The mean length of distraction was 7.3 cm (range, 5.1 to 12.1 cm). The mean external fixation index was 26.0 day/cm (range, 19.8 to 32.5 day/cm), the distraction index was 9.6 day/cm (range, 6.8 to 12.0 day/cm), and the maturation index was 14.9 day/cm (range, 8.0 to 22.5 day/cm). Ultimately, the bone and the functional results were rated excellent in six cases and good in one case. CONCLUSIONS: Bone transport using the Ilizarov apparatus is a good treatment option in patients with bone defects after the resection of an active or aggressive benign bone tumor.

Developmental pattern of the hip in patients with hereditary multiple exostoses.

BACKGROUND: Coxa valga is a common clinical feature of hereditary multiple exostoses (HME). The current study aimed to determine the unique developmental pattern of the hip in patients with HME and evaluate the factors that influence its progression. METHODS: Thirty patients (57 hips) with HME were divided into two groups according to the Hilgenreiner epiphyseal angle (HEA). Twenty-two patients (44 hips) including 13 men and 9 women were assigned to group 1 (HEA <25°), and 8 patients (13 hips) including 3 men and 5 women were assigned to group 2 (HEA ≥25°). The mean age at the initial presentation was 6.0 (4-12) years with 6.8 (4-11) years of follow-up in group 1, and 10.4 (8-13) years with 5.4 (2-9) years of follow-up in group 2. We measured the HEA, neck-shaft angle (NSA), acetabular index (AI), center-edge angle (CEA), and migration percentage (MP) for radiographic evaluation. RESULTS: Among the hips, 50 (87.7%) hips had coxa valga and 27 (47.4%) hips had abnormal MP (42.1% were borderline and 5.3% were subluxated). There was a significant difference in the HEA and NSA between the groups (p < 0.001 and p < 0.05, respectively). The HEA significantly correlated with the development of the NSA and no correlation was found between the HEA and AI, CEA, and MP. CONCLUSIONS: There was a significant relationship between the HEA at the initial presentation and the NSA at skeletal maturity. We should consider guided growth for patients with lower HEA to prevent significant coxa valga deformity with close follow-up.