Yumiko Kanauchi

Ultrasonographic assessment of the ulnar collateral ligament and medial elbow laxity in college baseball players.

Background: The prevalence of medial elbow instability is high in athletes who throw, such as baseball players. The aim of this study was to assess the medial aspect of the elbow with ultrasonography to detect changes in baseball players. Methods: Ultrasonography of the medial aspect of the elbow was performed, while gravity stress was applied with the elbow in 90° of flexion, on thirty college baseball players (twelve pitchers and eighteen fielders) to assess medial joint laxity and deformity of the ulnar collateral ligament. The dominant (throwing) extremity was compared with the contralateral extremity. Clinical data were correlated with ultrasonographic findings. Results: The medial joint space was significantly wider on the throwing side than it was on the contralateral side (2.7 mm and 1.6 mm, respectively; p < 0.01), and the proximal part of the ulna was shifted significantly laterally on the throwing side (p < 0.01). Angular deformity of the ulnar collateral ligament was found in five subjects, and it was significantly associated with lateral shift of the proximal part of the ulna (p < 0.01). Medial elbow pain was associated with widening of the medial joint space (p < 0.05) and with the presence of angulation of the ulnar collateral ligament (p < 0.01). Conclusions: Medial elbow laxity and elbow valgus on the throwing side of baseball players were increased compared with those in nonplayers. Angular deformity of the ulnar collateral ligament suggests that the ligament bends over the distal-medial edge of the trochlea. Ultrasonography can provide useful information about the condition of the ulnar collateral ligament and about medial elbow laxity in athletes who throw.

A nonsense mutation in TRPS1 in a Japanese family with tricho‐rhino‐phalangeal syndrome type I

To the Editor: Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM190350) is an autosomal dominant skeletal disorder characterized by cone-shaped epiphyses, hip malformation, short stature, sparse scalp hair, bulbous tip of the nose and other craniofacial abnormalities (1). In a recent paper, it has been reported that the causative gene of TRPS I, encoding a novel transcription factor, has been positionally cloned, and mutations in the gene have been identified in six families with the disorder (2). We report here on a nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I. A 40-year-old mother and all three of her children, an 11-year-old female, a 10-yearold female, and a 7-year-old male, had thin sparse hair with recessed fronto-temporo-occipital hairlines. Short stature, short arm span, facial deformity with bulbous nose and flat broad philtrum, and clinobrachydactylia of the fingers and toes were noted in all cases, although all the symptoms were not so prominent. Radiographs of the children showed brachymesophalangy associated with coneshaped epiphyses in bilateral hands and feet. The mother’s hands also had brachymesophalangy that seemed to be caused by cone-shaped epiphyses. The father did not have the above-mentioned abnormalities. We performed mutation screening using a singlestrand conformation polymorphism analysis and direct DNA sequencing. As a result, we have identified a heterozygous C to G transversion at position 3276 that converts a TAC to a TAG (Fig. 1), resulting in truncation of the TRPS1 protein at amino acid position 1092 (Y1092X). All mutations reported in a previous paper (2) give rise to a premature termination codon at different sites. These mutations presumably result in shortened protein products of different sizes, although it has not been experimentally proven. The longest truncated protein products lack only the small carboxyl-terminal domain that contains the IKAROS type zinc-finger motif. It is therefore possible that the IKAROS type zinc-finger domain of the TRPS1 protein plays a key role in the representation of phenotypes in TRPS I. The TRPS I patients in the Japanese family we describe here have a typical cone-like epiphyses in the first, second, and fifth digits, but craniofacial anomalies such as sparse hair, bulbous tip of the nose, and flat broad philtrum are not so prominent. Thus, the degree of phenotypic severity might be increased depending on the length of the truncated region.

Complications of Distal Radius Fractures Treated by Volar Locking Plate Fixation

The current study investigated the incidence of complications after surgery for distal radial fractures. This multicenter retrospective study was conducted at 11 institutions. A total of 824 patients who had distal radius fractures that were treated surgically between January 2010 and August 2012 were identified. The study patients were older than 18 years and were observed for at least 12 weeks after surgery for distal radius fractures with a volar locking plate. Sex, age, fracture type according to AO classification, implants, wrist range of motion, grip strength, fracture consolidation rate, and complications were studied. Analysis included 694 patients, including 529 women and 165 men, with a mean age of 64 years. The mean follow-up period was 27 weeks. The fracture consolidation rate was 100%. There were 52 complications (7.5%), including 18 cases of carpal tunnel syndrome, 12 cases of peripheral nerve palsy, 8 cases of trigger digit, 4 cases of tendon rupture (none of the flexor pollicis longus), and 10 others. There was no rupture of the flexor pollicis longus tendon because careful attention was paid to the relationship between the implant and the tendon. Peripheral nerve palsy may have been caused by intraoperative traction in 7 cases, temporary fixation by percutaneous Kirschner wires in 3 cases, and axillary nerve block in 1 case; 1 case appeared to be idiopathic. Tendon ruptures were mainly caused by mechanical stress. [Orthopedics.2016; 39(5):e893-e896.].

Intercalary non-vascularised toe phalanx transplantation for short finger-type symbrachydactyly.

A two-year-old boy with short finger-type symbrachydactyly involving the index, middle, and ring fingers was treated with intercalary nonvascularised toe phalanx transplantation into the middle finger to obtain stability of the middle finger before syndactyly release. He underwent syndactyly release one year after the transplantation. Two years after the transplantation, the clinical result was satisfactory, although X-ray showed fibrous union between the transplanted phalanx and the host phalanx. Intercalary nonvascularised toe phalanx transplantation is one of the way of stabilising a finger after syndactyly release.

The Incidence of Atypical Femoral Fractures in Patients with Rheumatic Disease: Yamagata Prefectural Committee of Atypical Femoral Fractures (YamaCAFe) Study

Atypical femoral fractures (AFFs) have been reported to occur with minimal or spontaneous subtrochanteric and femoral shaft fractures with a characteristic transverse pattern, compared with typical femoral fractures in young patients with high-energy trauma. AFFs are related to long-term use of bisphosphonates (BPs), glucocorticoids and rheumatic diseases. We have estimated a blind analysis of AFFs in rheumatic patients receiving BPs and glucocorticoids ordinary over a long time in all Yamagata prefectural area through radiographic examination. The 123 AFFs including suspected cases over six years were collected and reviewed by two independent orthopedic surgeons. We found 86 patients with a total of 99 AFFs between 2009 and 2014 (1.43 cases/100,000 person/year). Of these 99 AFFs, 11 were in 8 rheumatic patients including three patients with bilateral AFFs. The incidence of AFFs in rheumatic patients had trend to increase from 2012. The mean age of all 8 patients was 54.9 years. All 8 patients received BPs and 7/8 received prednisolone (PSL). The mean dose of PSL was 14 mg/day. Compared to patients with unilateral AFFs, those with bilateral AFFs in rheumatic patients were on a higher dose of PSL (20 mg/day vs. 7 mg/day) and had less femoral neck-shaft angle (129° vs. 136°, p < 0.05). In conclusion, the incidence of AFFs in rheumatic patients showed a trend to increase from 2012 to 2014 in Yamagata prefecture. Careful management of AFFs is of particular importance in rheumatic patients who have taken high doses of PSL and have small femoral neck-shaft angle.

FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis

ABSTRACT Most cases of Apert syndrome are due to S252W or P253R mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Differences in the effects of S252W and P253R mutations on the clinical features of Apert syndrome have been studied, but little is known about the type of FGFR2 mutation in Apert syndrome with humeroradial synostosis. To study a correlation between the FGFR2 mutations and the clinical complications, we examined the FGFR2 gene in a patient with Apert syndrome associated with humeroradial synostosis, and found that the mutation was S252W. This report suggested that S252W mutation in FGFR2 may cause humeroradial synostosis in Apert syndrome.

Long-term results after simple rotational osteotomy of the radius shaft for congenital radioulnar synostosis

BACKGROUND The present study was conducted to clarify the long-term (≥10 years) results of simple rotational osteotomy for congenital radioulnar synostosis (CRUS). METHODS Twelve forearms in 9 Asian patients with CRUS who underwent simple rotational osteotomy of the radius shaft were monitored for an average of 13.6 years (range, 10-19 years) postoperatively. Before surgery, the forearm fixation averaged 51.3° of pronation (range, 30°-90°). The true position of the forearm in ankylosis was measured by a line through the styloid processes of the radius and the ulna. Palm pronation and supination angles were also measured. The osteotomy was performed at the insertion of the pronator teres to the shaft of the radius. The pronation position was then corrected manually to allow 90° of palm supination with compensatory rotation around the wrist, and a cast was applied. We evaluated activities of daily living items at a mean of 5.2 years after surgery. At the final follow-up, the 11-item version of the Disability of the Arm, Shoulder and Hand score was recorded. RESULTS After surgery, the forearm was fixed at an average of 4.2° of supination. At the final follow-up, the palm was able to achieve an average motion arc ranging from 26° of pronation to 62° of supination. There were no neurologic or circulatory complications after surgery. Ability to perform daily activities was markedly improved, and all patients were satisfied with the results of surgery. The average score on the 11-item version of the Disability of the Arm, Shoulder, and Hand was 3.79 points at the final follow-up. CONCLUSION Our procedure for forearm rotation in patients with CRUS is simple, reliable, satisfactory, and safe.

Growth of Severely Hypoplastic Phalanges and Metacarpals in Symbrachydactyly: An Experimental Study in Mice

PURPOSE Severely hypoplastic phalanges and metacarpals in symbrachydactyly are often associated with a delay or failure of primary ossification evident by radiography at birth. However, little is known about the ossification pattern and further growth of severely hypoplastic bones in symbrachydactyly. To clarify this mechanism, we observed development during ossification of the hypoplastic phalanges in brachypodism mice (which carry functional null mutations of growth differentiation factor 5 and exhibit hypoplastic phalanges) as a model of the bone hypoplasia in symbrachydactyly. METHODS Forelimbs of wild-type and brachypodism mice from embryonic day 16.5 to 21 days after birth were sectioned. We used radiography to examine the progression of ossification; safranin O fast green-iron hematoxylin staining and in situ hybridization for type II collagen to demonstrate cartilage; the transferase-mediated nick end-labeling assay to identify apoptosis; and tartrate-resistant acid phosphatase staining to demonstrate osteoclastic activity. RESULTS In brachypodism mice, radiography showed markedly delayed ossification of the proximal phalanges in comparison with wild-type mice. Safranin O staining and type II collagen in situ hybridization showed that the cartilage anlagen of the proximal phalanges were extremely small, with diffuse endochondral ossification throughout, resulting in lack of growth plate and chondroepiphysis formation. Apoptotic cells were present under the perichondrium on the plantar side of the proximal phalanges from day 7 after birth and had spread randomly by day 14. Diffuse osteoclastic activity was evident throughout the proximal phalanges from days 7 to 14 after birth. CONCLUSIONS These results indicate that severely hypoplastic proximal phalanges in brachypodism mice, although showing an endochondral ossification pattern, lack a growth plate and have no potential for secondary growth. These findings may be relevant to the treatment of symbrachydactyly with severely hypoplastic bones, which are not evident radiographically at birth.