Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea

BACKGROUND/AIMS: Fabry disease is an X-linked recessive and progressive disease caused by alpha-galactosidase A (alpha-GaL A) deficiency. We sought to assess the prevalence of unrecognized Fabry disease in dialysis-dependent patients and the efficacy of serum globotriaosylceramide (GL3) screening. METHODS: A total of 480 patients of 1,230 patients among 17 clinics were enrolled. Serum GL3 levels were measured by tandem mass spectrometry. Additionally, we studied the association between increased GL3 levels and cardiovascular disease, cerebrovascular disease, or left ventricular hypertrophy. RESULTS: Twenty-nine patients had elevated serum GL3 levels. The alpha-GaL A activity was determined for the 26 patients with high GL3 levels. The mean alpha-GaL A activity was 64.6 nmol/hr/mg (reference range, 45 to 85), and no patient was identified with decreased alpha-GaL A activity. Among the group with high GL3 levels, 15 women had a alpha-GaL A genetics analysis. No point mutations were discovered among the women with high GL3 levels. No correlation was observed between serum GL3 levels and alpha-GaL A activity; the Pearson correlation coefficient was 0.01352 (p = 0.9478). No significant correlation was observed between increased GL3 levels and the frequency of cardiovascular disease or cerebrovascular disease. CONCLUSIONS: Fabry disease is very rare disease in patients with end-stage renal disease. Serum GL3 measurements as a screening method for Fabry disease showed a high false-positive rate. Thus, serum GL3 levels determined by tandem mass spectrometry may not be useful as a screening method for Fabry disease in patients with end stage renal disease.

Clinical Efficiency after Fixation with Cable in Patellar Fracture

PURPOSE: To evaluate the clinical results of cable fixation in patellar fractures followed by early ROM exercise and early weight bearing. MATERIALS AND METHODS: We analyzed 46 patients who had operation for transverse or comminuted patellar fractures with cable fixation from April 1995 to January 2003. Mean term of follow up was 15 months (range, 15~24 months). We reviewed the clinical and radiologic bony unions, ROM, time of weight bearings retrospectively. All cases were fixed with Dall-Miles' cable, and additional fixation was done with K-wires in 25 cases and with screws in 11 cases. At next day after surgery, all patients started CPM, except 3 cases who had severly comminuted fractures. Full weight bearing was started 2-3 days after surgery with LMB in full extended state. RESULTS: We gained bony union in all cases, Average ROM was 115 degree(80-130 degree) at postoperative 2nd week, all patients showed more than 130 degree at 8th week and final results showed normal ROM compared with opposite knee. During follow up, K-wires were migrated in 2 cases, but there was no difference in ROM or bony union compared with other patients. CONCLUSION: Fixations using Dall-Miles' cable for transverse or comminuted patellar fractures are considered to be enough stable for early ROM exercise and early weight bearing without major complications.

Intrauterine Device Migrating into the Bladder / 대한비뇨기과학회지

Migration of an intrauterine contraceptive device (IUD) into the urinary bladder is very rare. We experienced a case of a foreign-body migrating into the bladder of a 35-year-old women who has been suffering from frequency and dysuria for the recent 5 months. The IUD had originally been inserted 10 years ago. Removal of the IUD had been performed for achieving pregnancy, but the IUD was not detected at the correct site 7 years ago. One year later, the patient had given birth without complication. It is thought that it took less than 6 years for the IUD to invade the bladder wall.

Role of Matrix Metalloproteinase-3 in Degenerative Lumbar Scoliosis / 대한척추외과학회지

PURPOSE: This study was performed to investigate the differences in the expression of matrix metalloproteinase-3 in degenerative scoliosis compared with other degenerative disc disease of the spine. MATERIALS AND METHODS: The intervertebral disc materials were obtained during discectomies. Six, 13 and 12 cases of herniated nucleus pulposus, spinal stenosis and degenerative lumbar scoliosis, respectively, were included in the experimental group. The expression of MMP-3 was evaluated three times that of the means, in the immunohistochemical staining, western blotting using anti human MMP-3 antibody and RT-PCR with MMP-3 primer, respectively. RESULTS: On the immunohistochemical stains, extensive and strong staining was noted in the discs of degenerative lumbar scoliosis compared to those with spinal stenosis and HNP. In the western blotting, greater expression of MMP-3 was noted in the discs of degenerative lumbar scoliosis (mean optical density: 20.68) than in other degenerative disc diseases (SS: 6.24, HNP: 2.0). In the RT-PCR, a similar result was shown (DLS: 62.1, SS: 27.4 and HNP: 10.4). There were statistically significant differences between degenerative lumbar scoliosis and degenerative disc disease (p<0.05). CONCLUSION: Rapid degeneration of the intervertebral disc might be an important factor in the pathogenesis of degenerative lumbar scoliosis. MMP-3 could be a key enzyme for the rapid degeneration of the intervertebral discs, especially in degenerative lumbar scoliosis.

Osteochondroma of the 5th and 6th Cervical Vertebral Body: One Case Report / 대한척추외과학회지

Here, the case of an osteochondroma, which developed on the cervical spine of an 18-year old boy, is presented. Generally, an osteochondroma is very difficult to diagnose, due to their rarity and non-specific or lack of symptoms, and because they show radiolucency on plain X-ray. Due to the neurological symptoms of this patient, including radiating pain and a palpable protruding hard mass, the CT and MRI images were checked for a more accurate radiological evaluation. These images showed evidence of spinal cord compression or obliteration of the neural foramen. An en bloc excisional biopsy of the bony mass and cartilage cap, and a decompressive laminectomy were performed.

Posterior Vertebral Column Resection for Severe Spinal Deformities / 대한정형외과학회잡지

PURPOSE: To report a technique of vertebral column resection using a single posterior approach and its results in the treatment of severe spinal deformities. MATERIALS AND METHODS: Seventy spinal deformity patients treated by posterior vertebral column resection (PVCR) were retrospectively reviewed with minimum follow up of 2 years (2-3.3 years). There were 34 males and 36 females with a mean age of 27.4 years. Etiologic diagnoses were; adult scoliosis in 7, congenital kyphoscoliosis in 38, and post-infectious kyphosis in 25. The surgery consisted of temporary stabilization of the vertebral column with segmental pedicle screw fixation, resection of the vertebral column at the apex of the deformity via the posterior route followed by gradual deformity correction and fusion. Radiological and clinical data were reviewed for deformity correction and clinical results. RESULTS: The total number of resected vertebrae were 143: 76 thoracic and 67 lumbar. Mean operation time was 4 hours 31 minutes with an average blood loss of 2, 333 mL. The deformity correction was 62.9% in the coronal plane and 45.2 degrees in the sagittal plane. Complications were encountered in 24 patients: 2 complete cord injuries in severe adult scoliosis and a single thoracic kyphosis patient who had significant preoperative cord compromise, 6 hematomas, 4 root injuries (all incomplete), 5 fixation failures, 2 infections and 5 hemopneumothoraxes. CONCLUSION: PVCR is an effective alternative for severe fixed spinal deformities. However, extreme caution must be taken in patients with preoperative cord compromise who have a high risk of neurological complications.

Relationship between meniscal injury & articular cartilage defect in arthroscopy

PURPOSE: We studied to know the relationship between meniscal injury & defect of articular cartilage and its clinical importance. MATERIALS AND METHODS: 252 patients were selected, who undergone arthroscopic surgery for meniscal injury from May 1997 to December 2001. We excluded patients with severely progressed osteoarthritis or degenerative changes in simple X-ray. Physical examinations, simple X-rays, MRI & arthroscopic photographs were taken for all patients. And the results were analyzed according to age, duration from accident to operation and type of meniscal injury RESULTS: 40 cases (15.9%) showed defects of articular cartilage with meniscal injury. Among them, 18 cases (45%) in femur, 10 cases (25%) in tibia, and 12 cases (30%) in both. Incidence of articular cartilage defect was significantly higher in patients over the age of forty (p<0.01) and in those with a history longer than six months (p<0.05). Posterior horn tears were associated with the highest incidence of articular cartilage defect, but were also associated with a longer history and with older patients. CONCLUSION: In patients with meniscal injury, older age, long duration of symptom and tear at posterior horn have higher incidence of articular cartilage defect, especially femoral condyle. The reason for this is not entirely clear but these patients need close attention and early treatment.

Vertebral Column Resection through Posterior Approach in Rigid Adult Scoliosis / 대한척추외과학회지

OBJECTIVES: To report the surgical technique and effectiveness in treating rigid adult scoliosis with one stage vertebral column resection and pedicle screw fixation through a single posterior approach(PVCR). MATERIALS AND METHODS: Twenty-one patients with low flexibility(less than 20~30%) subjected to PVCR were evaluated after a mean follow-up of 18.5 months(12~29 months). There were 10 males and 11 females. The mean age at the time of the operation was 32.1 years(19~61 years). Etiological diagnoses were idiopathic in 7, congenital in 12, neuromuscular in 2. Preoperatively, all the patients showed moderate to severe derangement of pulmonary function with reduced vital capacity(30%~57%). RESULTS: An average of 1.3 vertebrae(1~3 vertebrae) were removed. The resection of body was in thoracic in 12 and lumbar in 15. Posterior fusion was carried out in 6.8(3~12) levels. Following the surgery, preoperative thoracic scoliosis of 86degree(55~130degree) and lumbar scoliosis of 64degree( 35~110degree) were corrected to 38degree(15~65degree) and 25degree(14~61degree), showing a correction of 56.2%(39~78%) and 61.1% (44~82%) respectively. Preoperative kyphosis of 59degree(16~104degree) was corrected to 24degree(2~58degree), showing a correction of 60.2%(41~74%). Preoperative coronal imbalance and shoulder height difference was corrected to 0.6 cm and 1.0 cm respectively. The average operation time and transfusion were 253 minutes and 2835 ml. The complications comprised two transient neurological deficits, one aggravated neurological deficits, one monoparesis, one infection, and one pneumothorax. CONCLUSIONS: One stage posterior vertebral column resection is a promising new technique for rigid scoliosis, significantly reducing the operative time and morbidity of combined anterior-posterior resection.

The Results of Five Years Follow-Up of Cemented Total Knee Arthroplasty

PUEPOSE: To analysis the clinical and radiographic results of patients who could be followed more than five years in the cemented total knee arthroplasty. MATERIALS AND METHODS: Twenty-two cases(30 patients) were analysed clinically and radiographically, which underwent cemented total knee arthroplasties between March 1991 and December 1994, and were followed up at least more than 5 years. Several factors such as pain at walking, range of motion(ROM), knee rating score of the Hospital for Special Surgery(HSS), flexion contracture for clinical evaluation were evaluated and femorotibial angle, radiologic component position, radiolucent zone according to the roentgenographic evaluation of american knee society for the radiologic evaluation were analysed. RESULTS: Twenty-nine cases(90.7%) were rated as good or excellent, HSS scores were improved from preoperatively 51.5 points to postoperatively 85.5 points, Flexion contracture was relieved from 11degrees pre-operatively to 1degree postoperatively and ROM of knee joint were increased from 118degrees to 120.2 degrees . There were 4 complications; patellar subluxation in three cases, aseptic loosening in one case. The survival rate was 96.9% at six years and seven months. CONCLUSION: According to the clinical and radiologic assessments, cemented total knee arthraplasty seemed to be one of the best methods to fix the prostheses of total knee arthroplasty, which gave good or excellent clinical results at more than five years follow up.

Ambulatory Care of the Osteoarthritis

No abstract available.

Effects of cilostazol treatment on angiographic restenosis after coronary stent placement

BACKGROUND AND OBJECTIVES: Cilostazol is a potent antiplatelet agent with antiproliferative properties. Few data are available about the effect of cilostazol on post-stenting restenosis. The aim of this study was to evaluate the impact of cilostazol on post-stenting restenosis. MATERIALS AND METHOD: Four hundred and nine patients (494 lesions) scheduled for elective stenting were randomized to receive aspirin plus ticlopidine (group A, n=01, 240 lesions) or aspirin plus cilostazol (group B, n=08, 254 lesions), starting 2 days before stenting. Ticlopidine was given for 1 month and cilostazol for 6 months. Follow-up angiography was performed at 6 months, and clinical evaluation at regular intervals. RESULTS: Baseline characteristics were similar between the two groups. Procedural success rate was 99.6% in group A and 100% in group B. There were no cases of stent thrombosis after stenting. Angiographic follow-up was performed in 380 of the 494 eligible lesions and angiographic restenosis rate was 27% in group A, and 22.9% in group B (p=S). However, diffuse type in-stent restenosis was more common in group A than in group B (54.2% vs 26.8%, respectively, p<0.05). In diabetic patients, angiographic restenosis rate was 50% in group A and 21.7% in group B (p<0.05). Clinical events during the follow-up did not differ between the two groups. CONCLUSION: The combination therapy with aspirin plus cilostazol seems to be an effective antithrombotic regimen with comparable results to aspirin plus ticlopidine, but it does not reduce the overall angiographic restenosis rate after elective coronary stenting.

A Case of Eosinophilic Gastritis Mimicking Gastric Submucosal Tumor / 대한소화기내시경학회지

Eosinophilic gastroenteritis is an uncommon disorder characterized by eosinophilic infiltration of the bowel wall, usually associated with peripheral blood eosionphilia. It usually involves the stomach and small intestine simultaneously. If the stomach alone is involved, the lesion can sornetimes be misdiagnosed as a primary gastric neoplasm. We experienced a case of eosionphilic gastritis mistaken for gastric submucosal tumor. A 37-year-old man presented to our hospital with acute epigastric pain. Endoscopy showed gastric submucosal tumor in the antrum of the stomach. Endoscopic ultrasonography(EUS) revealed diffuse thickening of the 3rd and 4th layer of the stomach. The patient underwent gastric surgery under the impression that he had a gastic neoplasm.