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Backgrounds Exostosin-1 (EXT1) and exostosin-2 (EXT2) cause multiple osteochondromas (MO). In this study, we investigated the correlation between forearm deformity and mutant EXTs in Japanese families with MO. Methods We evaluated 112 patients in 71 families with MO. Genomic DNA was isolated from peripheral blood leucocytes. Of these, 28 patients were selected and underwent radiography for their forearms since they had gross forearm deformities. We measured the radial articular angle (RAA), ulna variance (UV), carpal slip (CS), and percentage of radial bowing (%RB) to compare between patients with mutant EXT1 or EXT2 and those with missense or other mutations using Student's t-test. Results Twenty-two (78.6%) and 6 (11.4%) out of 28 patients had mutations in EXT1 and EXT2, respectively. Nine (32.1%) and 19 (67.9%) of the 28 patients had missense and other mutations, respectively. The mean age of patients with EXT1 and EXT2 were 25.9 ± 20.3 and 33.5 ± 25.4 years, respectively and those with missense mutation and other mutations were 28.7 ± 27.0 and 24.6 ± 17.0 years, respectively. There were no significant differences in RAA, UV, and RB between patients harbouring mutant EXT1 or EXT2 (RAA, 40.1 ± 8.7 and 31.5 ± 13.9°; UV, −2.7 ± 5.7 and −3.1 ± 3.7 mm; %RB, 8.6 ± 1.5 and 8.3 ± 2.0%). CS was significantly greater in patients with mutant EXT1 than that in those with mutant EXT2 (EXT1, 44.1 ± 16.8%; EXT2, 18.6 ± 14.0%). There were no significant differences in RAA, UV, CS and %RB between patients with missense and other mutations. Conclusions Patients with mutant EXT1 displayed greater CS than patients with mutant EXT2, indicating that patients with MO harbouring EXT1 mutations sustain more severe ulnar drift deformities than those with EXT2 mutations.

In this histologically controlled in vitro study, we evaluated the validity of plain radiography for the assessment of lateral knee joint cartilage degeneration (25 specimens). We examined the correlation between histological grade and radiography findings along with patient demographics. Our study indicated that the Mankin score had a significant inverse correlation with middle joint space width (JSW ; r=-0.19,P=0.02), but not with inner and outer JSW (inner : r=-0.11,P=0.10, outer : r=-0.14,P=0.06) under a non-weight bearing condition. The Mankin score had a significant inverse correlation with middle and outer JSW (middle : r=-0.17,P=0.04, outer : r=-0.14,P=0.04), but not with inner JSW (inner : r=-0.15,P=0.06) under valgus stress. There was no significant correlation between the Mankin score and osteophyte thickness (r=0.004,P=0.76). We also examined the correlation with patient demographics. We found that only the preoperative femorotibial angle had a significant inverse correlation with the Mankin score. These results indicate that JSW, but not osteophyte thickness, is reliable for evaluating lateral femoral cartilage degeneration.

We present two cases of malignant soft tissue tumor around the elbow joint treated with en bloc resection, in which reconstruction using a frozen autograft technique in combination with a free anterolateral thigh flap offered reliable method for limb salvage and good recovery of elbow function.

Background Optimal treatments of patients aged >40 years with osteosarcoma and Ewing sarcoma and of patients with other types of bone sarcoma have not yet been established. Methods The clinical characteristics of 746 patients with primary bone sarcomas aged >40 years listed in the nationwide tumor registry (Bone and Soft Tissue Tumor Registry of Japan) were investigated. Patients with Ewing sarcoma, conventional chondrosarcoma, multiple myeloma, and malignant lymphoma were excluded. The effects of adjuvant chemotherapy were determined by comparing outcomes in patients aged 40–70 years with non-metastatic high grade bone tumors who received surgery plus chemotherapy with those who underwent surgery alone. Results Axial site tumors (38.6%) and distant metastasis at presentation (21.4%) were frequent in patients aged >40 years with primary bone sarcomas. Chemotherapy was administered to 407 (54.6%) patients. Their 5-year overall survival (OS) and progression free survival (PFS) rates were 47.6% and 39.8%, respectively. Multivariate analysis showed that distant metastases at presentation, histological high grade, and radiation therapy were significantly correlated with both OS and PFS. Age and tumor size were also significantly correlated with OS. Patients aged 40–70 years who underwent surgery plus chemotherapy and those who underwent surgery alone had 5-year OS rates of 69.3% and 63.2%, respectively (p = 0.092), and 5-year PFS rates of 55.4% and 50.7%, respectively (p = 0.63). Conclusions Bone sarcoma patients aged >40 years had distinct clinical features and a poor prognosis. Chemotherapy did not improve OS or PFS in patients aged 40–70 years.

OBJECTIVE: The purpose of this study was to elucidate the characteristics of spinal fractures during recreational snowboarding and to determine the risk factors for these fractures. DESIGN: Case series study. SETTING: The Oku-mino ski area during the 7-year period between the 2005 to 2006 and 2011 to 2012 skiing seasons. PARTICIPANTS: Eight thousand seven hundred twenty-three snowboarders with injures. INTERVENTIONS: Cases involved snowboarders with spinal fractures; controls were snowboarders without spinal fractures. MAIN OUTCOME MEASURES: The characteristics of spinal fractures were assessed using a standard form and patient records, including radiographs. Multivariate regression analysis was performed to investigate risk factors for spinal fractures, including age, type of slope, snow condition, accident cause, self-reported skill level, experience level, and the use of protective equipment. RESULTS: Of 8723 snowboarders with injuries, 431 snowboarders presented with spinal fractures (4.9%). The most common spinal fracture was isolated transverse process fracture in the lumbar spine (33.2%, n = 143), followed by compression type fracture in the lumbar spine (25.1%, n = 108). Age (20-39 years), terrain slopes (half-pipe/box/kicker/rail), and jump-landing failure were associated with a significantly high risk of spinal fracture. CONCLUSIONS: Among the recreational snowboarders, isolated transverse process fracture in the lumbar spine was the most frequent spinal fracture. Age (20-39 year old), terrain slopes, and jump-landing failure were found to be risk factors for spinal fracture. CLINICAL RELEVANCE: Identification of characteristics and risk factors for spinal fractures during snowboarding is useful information to create a preventive strategy for the fractures and make snowboarding a safer sport. Language: en

Bony mallet injury of the hallux is uncommon. In the few reports of this injury, authors have described surgical treatments such as closed reduction with percutaneous pinning and open surgical fixation with Kirschner wires or a suture anchor. However, the appropriate surgical management for this injury remains controversial. In this article, we describe a case of bony mallet injury of the hallux repaired with the modified extension block techniqueusing 3 Kirschner wires. This method is an effective and simple treatment to allow anatomic reduction of the displaced articular fracture fragment without incision, residual hardware, or the complications associated with open surgical treatment.

We describe a case of suprascapular nerve entrapment caused by protrusion of an intraosseous ganglion of the glenoid into the spinoglenoid notch. A 47-year-old man with left shoulder pain developed an intraosseous cyst in the left glenoid, which came into contact with the suprascapular nerve. The area at which the patient experienced spontaneous shoulder pain was innervated by the suprascapular nerve, and 1% xylocaine injection into the spinoglenoid notch under ultrasonographic guidance relieved the pain. Therefore, we concluded that the protrusion of an intraosseous cyst of the glenoid into the spinoglenoid notch was a cause of the pain, and performed curettage. Consequently, the shoulder pain was resolved promptly without suprascapular nerve complications, and the cyst was histologically diagnosed as an intraosseous ganglion. This case demonstrated that the intraosseous ganglion of the glenoid was a benign lesion but could be a cause of suprascapular nerve entrapment syndrome. Curettage is a useful treatment option for a ganglion inside bone and very close to the suprascapular nerve.

Mild discolouration of the articular cartilage is known to gradually occur during aging. However, pathological tissue pigmentation is occasionally induced under several specific conditions. In the present case, we performed total knee replacement in a patient with recurrent haemarthrosis. However, during the operation, we observed severe black colouration of the knee articular cartilage, due to the deposition of hemosiderin and lipofuscin. To our knowledge, this is the first report of severe cartilage pigmentation, due to hemosiderin and lipofuscin deposition in articular cartilage.

Late thoracic outlet syndrome is a rare complication of clavicle fractures and usually warrants surgical treatment though its cause of clavicle fractures are a common injury and in most cases are treated conservatively. We report a case of a clavicle fracture accompanying severe multiple trauma, which was necessarily treated conservatively because of the severe associated injuries of the patient. The patient was unable to wear a figure-of-8 bandage for the fracture because of the need for complete supine bed rest, due to his other injuries. In this common situation, the clavicle fracture shortened and eventually resulted in the late thoracic outlet syndrome. We believe the cause of this was because a figure-of-8 bandage could not be applied due to the need for complete supine bed rest, and thus was inevitable because of his general condition. This case suggests that the conservative treatment of clavicle fractures, where there is the need for complete bed rest, potentially induces late thoracic outlet syndrome, and that this is indeed a pitfall in the treatment of clavicle fractures in multiple trauma.

In snowboarding, the upper extremity is known as the most common injury site and little information is available for lower extremity injuries. Here, we aim to discuss lower extremity injuries during snowboarding.We retrospectively analyzed the epidemiologic factors, injury types, and injury mechanisms for injured snowboarders (7,793 cases) between 2004-2005 and 2008-2009 seasons; information was gathered via questionnaires. Individuals were classified into a lower extremity injury group (961 cases) and a control group with other injuries (6,832 cases).The incidence of lower extremity injuries in snowboarding was 0.16 per 1,000 participant days, accounting for 12.3% of all snowboarding injuries. The mean age of the lower extremity injury group and injured control group was 26.1 years ± 5.9 years and 25.1 years ± 5.6 years, respectively. Approximately 90% of snowboarders in both the groups were equipped with soft-shelled boots. Skilled snowboarders tended to sustain lower extremity injuries (p0.0001). In lower extremity injuries, the most common injury type was lacerations/contusions (22.4%), resulting from collision with other snow sports participants. The most common fracture site was the ankle. Overall, in lower extremity injuries, the leading side was the most commonly injured (53.8%).A typical lower extremity injury in snowboarding is lacerations/contusions caused by collision with other snow sport participants. Lower extremity injuries in snowboarding differ considerably from well-known upper extremity injuries in terms of injury types and mechanisms. The incidence of lower extremity injuries is high and deserves further attention.

To examine whether child and adult skiers have different risk factors or mechanisms of injury for tibial shaft fractures.Descriptive epidemiological study.Prospectively analyzed the epidemiologic factors, injury types, and injury mechanisms at Sumi Memorial Hospital.This study analyzed information obtained from 276 patients with tibial fractures sustained during skiing between 2004 and 2012.We focused on 174 ski-related tibial shaft fractures with respect to the following factors: age, gender, laterality of fracture, skill level, mechanism of fracture (fall vs collision), scene of injury (steepness of slope), snow condition, and weather. Fracture pattern was graded according to Arbeitsgemeinschaft für Osteosynthesefragen (AO) classification and mechanical direction [external (ER) or internal rotation (IR)].Tibial shaft fractures were the most common in both children (89.3%) and adults (47.4%). There were no significant differences in gender, side of fracture, mechanism of fracture, snow condition, or weather between children and adults. Skill levels were significantly lower in children than in adults (P0.0001). Type A fractures were more dominant in children (73 cases, 72.3%) than in adults (39 cases, 53.4%). There was significantly more ER in children than in adults (P0.0001). Among children, female patients had significantly more IR than ER; in contrast, among adults, women were injured by ER.We found significant differences in some of these parameters, suggesting that child and adult skiers have different risk factors or mechanisms of injury for tibial shaft fractures.

Objective The purpose is to determine common injuries in recreational snowboarding as targets of preventive strategy and protective gear that reduces the overall risk of these injuries. Methods The subjects comprised 5561 injured recreational snowboarders. On the basis of patients’ self-reporting form, ‘the common snowboarding injuries’ (cut-off point >2.0% in prevalence) were decided, and all injured snowboarders were categorised into two groups: common injuries and the other injuries (control). Several factors such as age, gender, self-reported skill level, experienced seasons, experienced days, previous snowboarding school attendance and the use of protective gears (helmet, elbow pads, wrist guards, backbone guard, hip pads and knee pads) were recorded. Multiple logistic regression analysis was conducted to investigate which type of protective gear reduced the overall risk of the common injuries. Results The common snowboarding injuries consisted of eight types, in which distal radial fracture was the most common (17.7%), followed by head injury (9.4%) and clavicle fracture (6.5%). In univariate regression analysis, skill level, experienced seasons, experienced days and the use of hip pads and knee pads were manifested potential risk factors on the common injuries. In subsequent multivariate regression analysis, the use of hip pads was related with a lower overall risk of these common injuries (OR, 0.84; 95% CI, 0.75 to 0.95), specifically that of distal radial fracture and glenohumeral dislocation. Conclusions The use of hip pads is recommended for snowboarders as it reduces the overall risk of common snowboarding injuries.

Proximal femoral fractures in elderly patients are a serious problem in the aging society. Recently, surgical indications have changed due to advancements in medical technology. The purpose of this study was to investigate the outcome of elderly patients with displaced proximal hip fractures according to our positive criteria for surgical treatment. Exclusion criteria included (1) terminal-stage malignancy; (2) a combination of an inability to walk, a severe mental disorder, and caregiver refusal of surgery; and (3) nonapproval of the anesthesiologist for surgery. The study group comprised 666 elderly patients. They were categorized into surgically and nonsurgically treated groups, and their treatment outcomes were retrospectively analyzed. The majority of patients were treated surgically (97.0% vs 3.0%). One-year survival rate was higher among surgically treated patients (82.2%–91.8%) than non-surgically treated patients (55%). The major cause of death in nonsurgically treated patients was deterioration of comorbidities (66.7%), whereas this was the cause of death in 18.9% of surgically treated patients. One-year survival rates were worse in both groups with a lower American Society of Anesthesiologists grade. The 1-year survival rate of our patients suggests that our surgical criteria offer a reasonable outcome in surgically and nonsurgically treated patients. American Society of Anesthesiologists grade and preexisting comorbidities were strongly correlated with patient outcome.

We herein report a rare case of an intertrochanteric fracture complicated with an ankylosed hip joint in a 76-year-old man. Generally, operative treatment is performed for elderly people with intertrochanteric fractures to prevent general complications, maintain mobility, and release pain. However, intertrochanteric fractures of ankylosed hip joints are rare, and the optimal surgery for this condition is unknown. In addition, surgical fracture repair is challenging because unusual instability of the fracture site is suspected owing to the long lever arm of the lower extremity. Nevertheless, we successfully treated this rare fracture using a gamma nail, which may be a useful implant with which to treat this type of fracture if the status of the arthrodesed hip joint allows.

Bacille Calmette-Guérin osteomyelitis in infants is a known complication of Bacille Calmette-Guérin vaccination. Treatment consists of antituberculosis chemotherapy after biopsy/curettage; however, in cases of Bacille Calmette-Guérin osteomyelitis extending to the growth plate and epiphysis, the extent and time of surgical treatment such as curettage/biopsy is unknown because of bone growth disturbances. This article presents a case of an infant with this type of Bacille Calmette-Guérin osteomyelitis at the proximal tibia. A metaanalytic review was performed for possible risk factors of its recurrence. In our patient, primary curettage of partial lesion, excluding the part extending to the growth plate and epiphysis, failed, and recurettage of the extended lesion involving the growth plate and epiphysis was required for its eradication, resulting in bone growth disturbance. In the metaanalysis, 7 literatures reporting 14 cases of Bacille Calmette-Guérin osteomyelitis extending to the growth plate and epiphysis were included. Although statistical analysis showed no significant risk factors associated with the recurrence, these cases showed high recurrence rate in approximately 55.6%, requiring reoperation. Generally, the smaller damage to the growth plate can minimize bone growth disturbance. Taken together, it is suggested that Bacille Calmette-Guérin osteomyelitis extending to the growth plate and epiphysis is associated with high recurrence rate, and early curettage of the entire lesion should be performed to eradicate it and avoid resulting complications.

Treatment with a combination of chemotherapy and radiotherapy is known to be associated with oesophageal stricture in both children and adults with malignancies. However, oesophageal stricture resulting from chemotherapy alone is a rare complication, with few reports on it. We experienced a rare paediatric case of oesophageal stricture caused by chemotherapy for osteosarcoma of the left distal femur. After completion of the chemotherapy course, the patient showed dysphagia caused by the oesophageal stricture and underwent balloon dilatation for the oesophageal stricture. After balloon dilatation, he was able to ingest solid foods, and the oesophagus was normal without any strictures at the last follow-up (20 months after ballooning). Therefore, oesophageal stricture should be considered as a complication of treatment with chemotherapy alone in children with malignancies.

Infection of a hip prosthesis is one of the most severe complications encountered in orthopedic practice. Two-stage reconstruction using an antibiotic-impregnated cement spacer has become a popular procedure for the treatment of this condition. However, there are some disadvantages with the use of antibiotic-loaded cement, including low biocompatibility, a very low release ratio, and the possibility of thermal damage to the antibiotic. We have developed an effective drug delivery system for osteomyelitis in which porous hydroxyapatite (HA) blocks are loaded with an antibiotic by the vacuum method. We report here a modification of this delivery system applied for the first stage of two-stage reconstruction surgery against infected hip prosthesis. Eight consecutive patients who developed hip prosthesis infection underwent two-stage revision total hip arthroplasty (THA) using antibiotic-loaded porous HA blocks prepared by the vacuum method. Thorough debridement and insertion of antibiotic-loaded HA blocks was performed in the first stage, followed by conversion to THA after eradication of infection in the second stage. The mean interval between the stages was 16.8 weeks. There were no complications related to the use of the antibiotic-loaded HA blocks. The patients were followed up for an average of 49 months with no evidence of recurrent infection. The mean Japanese Orthopedic Association hip score improved from 45.1 before surgery to 79.6 at the latest follow-up. This simple approach utilizing antibiotic-impregnated HA blocks prepared by the vacuum method is considered to be effective for treatment of hip prosthesis infection.

Morcellized bone grafting was performed to significant acetabular deficiency in 35 hips of 29 patients in cementless total hip arthroplasty (THA). Bridging trabeculation across the graft–host interface, remodeling of the graft, and trabecular reorientation were observed at 4 weeks, 3.7 months, and 10.7 months postoperatively, respectively. These remodeling processes were observed in all cases. Morcellized bone grafting for acetabular deficiency in cementless THA stock, which is necessary to make the cup stable, revealed encouraging early trabecular reorientation and recovery of acetabular bone even in cases in which structural bone grafting is needed.

Posterior interosseous nerve palsy (PINP) is a rare complication of rheumatoid arthritis of the elbow. A 58-year-old woman with rheumatoid arthritis, who complained of an inability to extend her left fingers, was referred to our hospital. After a series of studies, extensor tendon ruptures were excluded, and PINP was diagnosed. By means of the Henry anterolateral approach, the radial nerve was exposed, which was compressed by swollen synovial membrane at the Frohse arcade. Elbow synovectomy was performed, and the arcade was opened to release the nerve. The PINP has been recovered completely within 2 weeks after surgery. Various examinations other than magnetic resonance imaging have been reported for the adjunctive diagnosis of PINP, but MR imaging was most useful as an adjunctive examination in this case.

Background Multiple osteochondroma (MO) is an autosomal dominant skeletal disorder characterized by the formation of multiple osteochondromas, and exostosin-1 (EXT1) and exostosin-2 (EXT2) are major causative genes in MO. In this study, we evaluated the genetic backgrounds and mutational patterns in Japanese families with MO. Results We evaluated 112 patients in 71 families with MO. Genomic DNA was isolated from peripheral blood leucocytes. The exons and exon/intron junctions of EXT1 and EXT2 were directly sequenced after PCR amplification. Fifty-two mutations in 47 families with MO in either EXT1 or EXT2, and 42.3 % (22/52) of mutations were novel mutations. Twenty-nine families (40.8 %) had mutations in EXT1, and 15 families (21.1 %) had mutations in EXT2. Interestingly, three families (4.2 %) had mutations in both EXT1 and EXT2. Twenty-four families (33.8 %) did not exhibit mutations in either EXT1 or EXT2. With regard to the types of mutations identified, 59.6 % of mutations were inactivating mutations, and 38.5 % of mutations were missense mutations. Conclusions We found that the prevalence of EXT1 mutations was greater than that of EXT2 mutations in Japanese MO families. Additionally, we identified 22 novel EXT1 and EXT2 mutations in this Japanese MO cohort. This study represents the variety of genotype in MO. Electronic supplementary material The online version of this article (doi:10.1186/s12863-016-0359-4) contains supplementary material, which is available to authorized users.