• Journal of The Korean Society of Inherited Metabolic disease
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• v.15 no.1
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• pp.49-54
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• 2015

Multiple epiphyseal dysplasia (MED) is one of the more common skeletal dysplasias. MED is characterized by joint pain and stiffness, a waddling gait, and/or mild short stature in childhood. Radiographic findings include delayed and irregular ossification of the epiphyses in multiple joints. Mutations in at least six different genes (COMP, MATN3, COL9A1, COL9A2, COL9A3, and DTDST) can cause MED, and it can be either dominant or recessive inheritance. Molecular diagnosis is important for accurate prognosis and genetic counselling. COMP mutation is the most common form of MED in Western. But, MATN3 mutation was reported as the most common type of MED in Korea. Here, we describe a boy who was diagnosed as MED by clinical and radiological features. Hip radiograph of the patient was suggested MATN3 mutation. But knee radiograph was suggested COMP mutation. MATN3 and COMP mutations direct sequencing, but were no mutation. So we tested whole exome sequencing, but significant variant was not detected as known MED six genes mutations. The patient was diagnosed as having MED clinically and radiologically. Further study to identify the other responsible genes for MED is needed.

• Journal of Veterinary Clinics
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• v.18 no.3
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• pp.243-248
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• 2001

Radiographic findings of degenerative joint disease (DJD) in the coxofemoral joints were studied in 108 dogs referred to Veterinary Medical Teaching Hospital, College of Veterinary Medicine, Seoul National University. Radiographic findings were identified with a extended ventrodorsal projection. Clinical signs such as pain in the affected joint, exercise intolerance, lameness, crepitation on flexion and extension of the joint and decreased range of motion, were shown in 40% and radiographic changes of bilateral coxofemoral joints were identified in 69% of a group of dogs. There are no sex predilections. Thirty-seven dogs were diagnosed as canine hip dysplasia (CHD; 10 cases), avascular necrosis of the femoral head (Legg-Calves-Perthes disease [LCPD]; 12 cases), fracture of the acetabulum (1 case), luxation(10 cases) and subluxation (15 cases), however, luxation and subluxation were identified in 11 dogs affected with CHD and LCPD. Causes of DJD in others (71case) were not identified. Radio-graphic findings identified included osteophyte formation at the attachment of the joint capsule (70%), sclerosis of the subchondral bone of the cranial acetabular edge (47%), remodeling of the femoral head (34%), thickening of the femoral neck(31%), perichondral osteophyte formation (31%), joint laxity (30%) and so on. All of the dogs diagnosed as CHD were large breed such as Retriever, Germain Shepherd, and Weimaraner and their age was under 1 year. This condition occurred bilaterally in 70% of affected animals. Dogs diagnosed as LCPD were young (under 1 year), small breed dogs. The incidence of LCPD is greater in Yorkshire Terrier, Miniature Pinscher and Poodle. This condition occurred unilaterally in 67% of affected animals. Clinical signs of dogs with unknown cause were shown in 15% and this condition occurred bilaterally in 75% of affected animals. Radiographic findings varied with patient's age and breed, however, the most common finding was osteophyte formation at the attachment of the joint capsule.

• Journal of mucopolysaccharidosis and rare diseases
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• v.2 no.1
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• pp.5-7
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• 2016

Mucolipidoses II and III alpha/beta (ML II and ML III) are lysosomal disorders in which the essential mannose-6-phosphate recognition marker is not synthesized onto lysosomal hydrolases and other glycoproteins. The disorders are caused by mutations in GNPTAB, which encodes two of three subunits of the heterohexameric enzyme, N-acetylglucosamine-1-phosphotransferase ML II, recognizable at birth, often causes intrauterine growth impairment and sometimes the prenatal "Pacman" dysplasia. The main postnatal manifestations of ML II include gradual coarsening of neonatally evident craniofacial features, early cessation of statural growth and neuromotor development, dysostosis multiplex and major morbidity by hardening of soft connective tissue about the joints and in the cardiac valves. Fatal outcome occurs often before or in early childhood. ML III with clinical onset rarely detectable before three years of age, progresses slowly with gradual coarsening of the facial features, growth deficiency, dysostosis multiplex, restriction of movement in all joints before or from adolescence, painful gait impairment by prominent hip disease. Cognitive handicap remains minor or absent even in the adult, often wheelchair-bound patient with variable though significantly reduced life expectancy. As yet, there is no cure for individuals affected by these diseases. So, clinical manifestations and conservative treatment is important. This review aimed to highlight the extra-skeletal clinical problems in ML II and III.

• Journal of Veterinary Clinics
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• v.27 no.6
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• pp.679-685
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• 2010

Many animal models of osteoarthritis (OA) have been developed, aimed at understanding the long-term progression of OA and difficulty of identifying patients in the initial stage of the disease. In canines, coxofemoral luxation and hip dysplasia are common orthopedic ailments related to OA in the hip joint. Transecting the ligament of the head of the femur (LHF) aids in diagnosis of coxofemoral joint OA. Presently, mobility of this joint was increased by transected LHF in 10 mature, 2-3-year-old (average $2.57{\pm}0.20$ years), healthy male beagles. The animals were normally gaited 1-week post-operatively. During the experimental period, examinations including X-ray, complete blood count and serum chemistry were unremarkable. Proteomic examination revealed protein alterations in synovial fluid, with significant increases in Vitamin D-binding protein precursor (ANOVA, p < 0.004) and Kinogen-1 (ANOVA, p < 0.039). Both proteins correlated with arthritis.

• The Journal of the Korean bone and joint tumor society
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• v.14 no.1
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• pp.25-32
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• 2008

Purpose: This study was performed to evaluate the efficiency of Hydroxyapatite ($Bongros^{(R)}$-HA) what use for bone defect after operative treatment of benign bone tumor. Materials and Methods: Hydroxyapatite, was used to treat bone defect after operative treatment of benign bone tumor from September, 2006 to December, 2007. A total of 17 benign bone tumor cases (10 males and 7 females) with mean age of 28.5 was observed studied. The diagnoses were fibrous dysplasia in 8 cases, solitary bone cyst in 5 cases, and giant cell tumor in 4 cases. In categorization by location of tumor, there were 6 cases of proximal femur, 3 cases of proximal femur, 3 cases of proximal tibia, 4 cases of proximal humerus, and 1 case of hip bone. Autogenous bone was used with Hydroxyapatite in 4 cases, and only Hydroxyapatite used in 13 cases. Periods of Follow-up were from 3 months to 15 months, and mean period were 7.5 months. Amount of graft resorption and bone formation was observed with compare of post operation radiograph and the difference was shown by percentage. Results: More than 98% bone uptake was observed after mean 4.5 months, and more than 98% bone formation was observed after mean 6.2 months. Lesser bone defect size showed faster bone formation and it was statistically significant result (P=0.012). But other comparative studies on other factors such as sex, age of patients and combination of autogenous bone were no statistically significant differences in graft resorption and bone formation. And there was no significant complications in periods of follow-up. Conclusion: Hydroxyapatite is considered as one of useful method of bone defect after operative treatment of benign bone tumor.

• The Journal of the Korean bone and joint tumor society
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• v.19 no.2
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• pp.56-63
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• 2013

Purpose: This study was performed to evaluate the efficiency of demineralized bone matrix (DBM, Genesis$^{(R)}$) used for bone defect after operative traetment of benign bone tumors by clinical and radiological methods. Materials and Methods: DBM was used to treat bone defect after operative treatment of benign tumor from February 2012 to May 2013. Total 25 benign bone tumor cases (15 males, and 10 females) with mean age of 30.3 were studied. The diagnoses were solitary bone cyst in 9 cases, non ossifying fibroma in 5, fibrous dysplasia in 5, aneurysmal bone cyst in 3 and enchondroma in 3. In categorization by location of tumor, there were 5 cases of distal femur, 4 of proximal tibia, 3 of proximal femur, 3 of proximal humerus, 3 of phalanx, 2 of distal radius, 2 of hip bone, 2 of calcaneus, and 1 of scapula. Autogenous bone was used with DBM in 6 cases, and only DBM used in 19 cases. Mean periods of follow up were 8.7 months (range: 6 to 14 months). Amount of graft resorption and bone formation was observed with compare of post operation radiograph and the difference was shown by percentage. Resorption level was measured by DBM level which could be observed from simple x-ray, and bone formation level by bone trabecular formation level at impaired site. Results: Twenty three cases of total 25 cases showed bone union. In the 23 cases, more than 98% DBM resorption was observed after mean 4.3 months, and more than 98% bone formation was observed after mean 6.9 months. Lesser bone defect sizes showed faster bone formation and it was statistically significant (p=0.036). But other comparative studies on other factors such as, sex, age of patients and combination of autogenous bone were no statistically significant differences in graft resorption and bone formation. And there was no significant complication in periods of follow-up. Conclusion: Demineralized Bone Matrix (Genesis$^{(R)}$) is thought to be useful treatment for bone defect after operative treatment of benign bone tumor, however longer follow-up periods appears to be needed.