The frequency of Fabry disease with the E66Q variant in the α-galactosidase A gene in Japanese dialysis patients: a case report and a literature review.

Fabry disease (FD) is an Xlinked disorder resulting in a deficiency in α-galactosidase A (α-Gal) activity. FD is one of the causes of progressive renal dysfunction, but its diagnosis is often delayed or missed completely. We herein report the case of a 70-year-old male who had been receiving hemodialysis (HD) for 23 y who was diagnosed with FD after his participation in a screening program for plasma α-Gal activity for 892 HD patients. He had a low plasma α-Gal activity level and was demonstrated to have an E66Q mutation in exon 2 of the α-Gal gene. One of his daughters had the same mutation. The proband died due to aspiration pneumonia before receiving enzyme replacement therapy. We reviewed previous studies and found E66Q mutation in 36% of Japanese FD patients on HD including the present case. The clinical characteristics of E66Q variant are also discussed.

Surface grafting of biocompatible phospholipid polymer MPC provides wear resistance of tibial polyethylene insert in artificial knee joints.

OBJECTIVE: Aseptic loosening of artificial knee joints induced by wear particles from a tibial polyethylene (PE) insert is a serious problem limiting their longevity. This study investigated the effects of grafting with our original biocompatible phospholipid polymer 2-methacryloyloxyethyl phosphorylcholine (MPC) on the insert surface. METHODS: The hydrophilicity of the PE surface was determined by the contact angle of a water droplet, and the friction torque was measured against a cobalt-chromium alloy component. The wear amount was compared among PE inserts with or without cross-linking and MPC grafting during 5x10(6) cycles of loading in a knee joint simulator. The surfaces of the insert and the wear particles in the lubricant were subjected to electron and laser microscopic analyses. The mechanical properties of the inserts were evaluated by the small punch test. RESULTS: The MPC grafting increased hydrophilicity and decreased friction torque. In the simulator experiment, the wear of the tibial insert was significantly suppressed in the cross-linked PE (CLPE) insert, and even more dramatically decreased in the MPC-grafted CLPE insert, as compared to that in the non-cross-linked PE insert. Surface analyses confirmed the wear resistance by the cross-linking, and further by the MPC grafting. The particle size distribution was not affected by cross-linking or MPC grafting. The mechanical properties of the insert material remained unchanged during the loading regardless of the cross-linking or grafting. CONCLUSION: Surface grafting with MPC polymer furnished the PE insert with wear resistance in an artificial knee joint through increased hydrophilicity and decreased friction torque.

Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.

Pseudoachondroplasia (PSACH) is a common skeletal dysplasia characterized by disproportionate short stature, early-onset osteoarthrosis, and dysplasia of the spine, epiphysis, and metaphysis. Multiple epiphyseal dysplasia (MED) is a similar but less severe disorder characterized by dysplasia of the epiphysis. Both disorders are caused by mutations in the cartilage oligomeric matrix protein (COMP) gene. COMP mutations cluster in a region of the gene that encodes calmodulin-like repeats (CLRs) and correlate closely with disease severity. Typically, mutations in exon 13 that composes the seventh CLR produce severe PSACH phenotypes, whereas mutations found elsewhere in the gene produce mild PSACH or MED phenotypes. We have identified a PSACH patient carrying a novel mutation in exon 18 of COMP that composes the C-terminal globular domain. This mutation produced a severe PSACH phenotype with marked short stature and deformities of the spine and extremities. Our results extend the range of disease-causing mutations within the COMP gene and demonstrate the importance of the additional domain of COMP protein in its in vivo function.

Retinal vasculitis in a mother and her son with human T-lymphotropic virus type 1 associated myelopathy.

A 53-year-old woman had difficulty in walking, raised titres to human T-lymphotropic virus type 1 (HTLV-1) in serum and cerebrospinal fluid, and yellowish white retinal lesions and vasculitis in the right eye. Her 20-year-old son also had difficulty in walking, raised titres to HTLV-1 in serum and cerebrospinal fluid, and retinal vasculitis and multiple whitish vitreoretinal spots in both eyes.

Avascular necrosis of the femoral head. Natural history and magnetic resonance imaging.

We studied the prognostic value of MRI in 32 radiographically normal, asymptomatic hips in 25 patients at risk of osteonecrosis from glucocorticoids or alcoholism. The early findings were band-like hypointense zones on spin-echo images. No operations were performed. Life-table survival curves showed that femoral heads in which the hypointense zone traversed the middle portion of the head were most at risk of subsequent segmental collapse.

Complete endoscopic carpal tunnel release in long-term haemodialysis patients.

The roof of the carpal tunnel (or canal) consists of the distal portion of the flexor retinaculum, the flexor retinaculum (or the transverse carpal ligament) and the proximal portion of the flexor retinaculum. We tried to determine which anatomical structures were relevant to complete endoscopic carpal tunnel decompression in long-term haemodialysis patients with carpal tunnel syndrome. Carpal tunnel pressure was measured using the continuous infusion technique before and after endoscopic release of the flexor retinaculum, distal portion of the flexor retinaculum and the proximal portion of the flexor retinaculum respectively in 257 hands. We concluded that release of the distal portion of the flexor retinaculum, in addition to the flexor retinaculum, is essential for complete carpal tunnel decompression in long-term haemodialysis patients.

Long-term follow-up results of rotational acetabular osteotomy in painful dysplastic hips: efficacy in delaying the onset of osteoarthritis.

We evaluated the results of rotational acetabular osteotomies in 13 severely dysplastic hips (11 patients) with subluxation. All of the patients were women, aged 20 to 35 years at the time of surgery, and 40 years or more at the time of follow-up. At a minimum follow-up period of 10 years, the patients had minimal or no pain. Of the 13 hips, 12 showed no significant findings of osteoarthritis. Comparing the outcome of these patients with the natural evolution of severely dysplastic hips, we concluded that rotational acetabular osteotomy may prevent the onset of osteoarthritis.

Complete endoscopic carpal canal decompression.

We made a model of the endoscopic decompression of the carpal canal in clinical cases. The model entailed the release of the transverse carpal ligament, ie, the flexor retinaculum, first; then the transverse fibers: deep layer of the midpalmar fascia or distal portion of the flexor retinaculum; and, finally, release of the forearm fascia. Carpal canal pressure was measured using the continuous infusion technique, and the carpal canal was observed endoscopically at each step. Carpal canal pressure data were analyzed by using the Wilcoxon matched pairs signed-rank test. When the transverse carpal ligament and the transverse fibers were divided, carpal canal pressure was significantly statistically lower than that with release of the transverse carpal ligament alone. We conclude that release of both the transverse carpal ligament and the transverse fibers are essential for complete decompression of the carpal canal in endoscopic surgery.

[Difference between T1 and T2 weighted MR images in avascular necrosis of the femoral head].

T1 and T2 weighted MR images were compared in 32 hips with avascular necrosis, and the difference between them was discussed. In 27 of 32 hips, abnormal low intensity area in the affected femoral head is smaller in T2 weighted images than in T1 weighted images. The area of low intensity on T1 weighted image and high on T2 weighted image might be granuloma in reactive tissue and surrounding hyperemia. The difference between T1 and T2 weighted images must be taken into consideration especially in determination of the border of affected bone.

[MR imaging of idiopathic transient osteoporosis of the hip].

Four patients with idiopathic transient osteoporosis of the hip were examined by magnetic resonance imaging (MRI). MRI clearly showed low signal intensity in the affected femoral head on T1-weighted images and high signal intensity on T2-weighted images. After regression of hip pain, MR images became normal. MRI was a useful method for diagnosis and follow-up study of idiopathic transient osteoporosis of the hip.

Selection of highly osteogenic and chondrogenic cells from bone marrow stromal cells in biocompatible polymer-coated plates.

To enrich the subpopulation that preserves self-renewal and multipotentiality from conventionally prepared bone marrow stromal cells (MSCs), we attempted to use 2-methacryloyloxyethyl phosphorylcholine (MPC) polymer-coated plates that selected the MSCs with strong adhesion ability and evaluated the proliferation ability or osteogenic/chondrogenic potential of the MPC polymer-selected MSCs. The number of MSCs that were attached to the MPC polymer-coated plates decreased with an increase in the density of MPC unit (0-10%), whereas no significant difference in the proliferation ability was seen among these cells. The surface epitopes of CD29, CD44, CD105, and CD166, and not CD34 or CD45, were detectable in the cells of all MPC polymer-coated plates, implying that they belong to the MSC category. In the osteogenic and chondrogenic induction, the MSCs selected by the 2-5% MPC unit composition showed higher expression levels of osteoblastic and chondrocytic markers (COL1A1/ALP, or COL2A1/COL10A1/Sox9) at passage 2, compared with those of 0-1% or even 10% MPC unit composition, while the enhanced effects continued by passage 5. The selection based on the adequate cell adhesiveness by the MPC polymer-coated plates could improve the osteogenic and chondrogenic potential of MSCs, which would provide cell sources that can be used to treat the more severe and various bone/cartilage diseases.

Orthotic management of severe genu varum and tibia vara.

In two cases of severe genu varum and one case of infantile tibia vara, we employed double-upright knee-ankle-foot orthoses with free knee and ankle joints. The patients tolerated these orthoses well and were able to walk. The results were satisfactory.

Lateral longitudinal stress fracture of the patella: report of three cases.

Stress fracture of the patella is a rare occurrence. Two types, longitudinal and transverse, are known. We report three lateral longitudinal fractures of the patella caused by running, Japanese fencing, and long distance walking. Patients returned to physical activities after 2-3 months of conservative treatment.

[Avascular necrosis of the femoral head: staging by MR imaging].

Magnetic resonance (MR) images and conventional radiographs were compared in 142 hips with avascular necrosis, and a staging system for the disease based on MR imaging was developed. MR images were classified into three patterns: class I: a band of low signal intensity, class II: an area of low signal intensity with internal spot (s) of high signal, and class III: an area of low signal intensity without internal spots of high signal. Most MR class I lesions were in radiographic stage I (normal) or II (sclerotic or cystic changes without collapse). Most MR class II lesions were in radiographic stage III (segmental collapse), and most MR class III lesions were in stage III or IV (secondary degenerative changes). The MR image classification was closely correlated with radiographic staging (p < 0.01, using chi square test). We considered that this classification closely reflected the different stages of the disease according to the histopathology of the bone marrow.

Colonna capsular arthroplasty: a 33-year follow-up of four patients.

We evaluated the results of Colonna capsular arthroplasty in 4 patients with unilateral congenital dislocation of the hip. All of these patients were female, aged 10-14 years at the time of surgery, and 42-50 years at the time of follow-up. The most striking finding in this study was the good ability to walk. Although radiographs showed considerable joint degeneration, all of these patients had only mild to moderate pain in the hip.

Endoscopic management of carpal tunnel syndrome.

This article describes a subcutaneous endoscopic operative procedure for carpal tunnel syndrome and analyzes its effectiveness using electrophysiological data. Subcutaneous transverse carpal ligament release under universal subcutaneous endoscope (USE) was performed using local anesthesia without pneumotourniquet in 54 hands of 45 patients since June 1986. The mean follow-up period was 13.8 months. Sensory disturbances began to subside immediately after the operation and disappeared within 2 months in all cases. After the disappearance of sensory disturbances, we performed postoperative electrophysiological studies in 27 patients (33 hands). Postoperative electrophysiological data were significantly improved in all cases. Patients did not suffer from any serious complications such as motor branch injuries of the median nerve, hypesthesia of the palm, or injuries of the superficial palmar arch. From these results, we conclude that the transverse carpal ligament can be safely incised by this procedure.

Long-term results of rotational acetabular osteotomy in young patients with advanced osteoarthrosis of the hip.

Between 1974 and 1987, we performed 38 rotational acetabular osteotomies to treat advanced coxarthrosis caused by acetabular dysplasia in 38 patients who were aged 40 years old or less at the time of surgery. Of these patients, 28 were followed-up for more than 10 years after surgery. The preoperative severity of coxarthrosis was graded as stage III in 21 hips and as stage IV in 7 hips, according to our modification of the classification of coxarthrosis advocated by the Japanese Orthopaedic Association. At the time of follow-up, 27 patients retained their own hip joints on the operated side 10 to 18 years (average, 13 years) after surgery, and the remaining patient had had a secondary total hip replacement 7 years after the surgery. Of the 27 patients who retained their own hip joints on the operated side, 20 had little or no pain and none suffered from severe pain in the operated hip; the severity of coxarthrosis was graded as stage II in 4 hips, as stage III in 9 hips, and as stage IV in 14 hips. We conclude that rotational acetabular osteotomy can be a useful procedure in young patients who have advanced coxarthrosis secondary to acetabular dysplasia.

Evaluation of carpal canal pressure in carpal tunnel syndrome.

Preoperative electrophysiologic testing and intraoperative carpal canal pressure measurements were performed on 957 hands in 647 patients with clinical signs of carpal tunnel syndrome. Fifty-five symptomatic hands in 48 patients were normal in both distal sensory latency and distal motor latency preoperatively. Carpal canal pressure was, however, significantly elevated compared to control data in all 55 hands. After complete subcutaneous release of the carpal canal using the Universal Subcutaneous Endoscope system, carpal canal pressure was reduced to within the normal control range. Clinical symptoms of carpal tunnel syndrome improved in all 55 hands. Postoperative electrophysiologic data remained within normal range in patients who agreed to receive electrophysiologic examinations.