• Title/Summary/Keyword: Epiphyses

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Thiemann's Disease: a Case Report

  • Kim, Yoon Ha;Lee, Jee Young
    • Investigative Magnetic Resonance Imaging
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    • v.21 no.4
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    • pp.273-275
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    • 2017
  • Thiemann's disease is a form of idiopathic avascular necrosis of the immature epiphyses of the phalanges of the fingers and toes. Few cases of Thiemann's disease have been reported because the disease is rare and difficult to diagnose. To the best of our knowledge, magnetic resonance imaging (MRI) findings of Thiemann's disease have not been reported. Here, we report a case of Thiemann's disease diagnosed by typical clinical symptoms and characteristic MRI findings before radiologic bony abnormalities were apparent.

A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1

  • Park, Jin-Mo;Lee, Yun Jeong;Park, Jin-Sung
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.97-101
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    • 2018
  • Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.

Promotion Effects of Yeast Hydrolysates and a Mixture of Safflower Seed and Gasiogapi Extract on Longitudinal Bone, Proximal Epiphysis, and Growth Hormone in Rats

  • Lee, Hyun-Sun;Noh, Dong-Ouk;Suh, Hyung-Joo
    • Preventive Nutrition and Food Science
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    • v.16 no.2
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    • pp.110-116
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    • 2011
  • This study examined the growth effects of yeast hydrolysate (YH) and a traditional Korean herbal mixture (HM, a mixture of safflower seed and gasiogapi extract). Three-week old male SD rats were divided into the following five groups: negative control (saline), positive control (foremilk 0.5 g/kg/day), YH (YH 0.5 g/kg/day), HM (HM 0.2 g/kg/day), and YH+HM (YH 0.5 g/kg/day and HM 0.2 g/kg/day). Tibia bone length was 9.22 mm in the normal control rats, while both the YH and YH+HM groups had significantly longer tibia bones than the control rats (9.75 mm and 10.46 mm, respectively). The proximal epiphyses of YH, HM, and YH+HM measured 0.75, 0.70, and 0.75 mm, respectively, while the length in the control group was 0.50 mm. Plasma insulin growth factor-1 (IGF-1) level was slightly higher in the YH group (1.36 mg/mL) than in the control rats (1.29 mg/mL), but the difference was not significant. Plasma IGF-1 level was significantly increased in the HM (1.49 mg/mL) and YH+HM (1.53 mg/mL) groups compared to the control group (1.29 mg/mL). Growth hormone (GH) levels in YH (17.45 ng/mL), HM (15.49 ng/mL), and YH+HM (16.07 ng/mL) were significantly different compared to the control group (3.63 ng/mL).

Long-Term Result of the Epiphyseal Transplantation in Distal Forearm (전완원위부 변형에 대한 혈관부착 성장판 이식술)

  • Chung, Duke-Whan;Han, Chung-Soo;Yoo, Myung-Chul;Han, Soo-Hong
    • Archives of Reconstructive Microsurgery
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    • v.4 no.1
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    • pp.16-22
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    • 1995
  • We analyzed 11 children who underwent epiphyseal transplantation to the forearm for manage growing deformity ranged from 2 years 6 months to years(average 5 years 10 months) follow-up period. Etiologies of the functional impairment of the eleven were five traumatic, three congenital and three tumorous conditions. Lesions of epiphysis were distal radius in eight patients and distal ulna in three patients. Operation was performed with removal of non-functioning or deformed epiphysis followed by transplantation of free vascularized proximal fibular epiphysis with microvascular anastomesis. Evaluation was performed radiologically and functionally. The 9(81.8%) patients showed growth of transplanted epiphysis by radiological examination during follow up. At the last follow up, average growth rate was 0.86cm per year excepts 2 cases of no growth. Active wrist motion near normal to contralateral joint was achieved in 7 patients. In other 2 patients, active joint motion was improved but weaker than contralateral joint. Complications on donor site were two transient peroneal nerve palsy which have been resolved after 2 and 5 months post operation and one valgus ankle deformity. The ankle deformity was corrected with $Langenski\"{o}ld$ operation of the dital tibiofibular fusion. At recipient site, there was one superficial infection and it was easily controlled by systemic antibiotics. Many subsequent reports have described successful nonvascularized epiphyseal transplante, but overall results have been inconsistent and unsatisfactory. Other experimental and clinical studies in the transfer of vascularized epiphyses has encourage its clinical application. We also could gel successful growth in several cases with free vascularized epiphyseal transplantation.

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THE PUBERTAL GROWTH SPURT AND SKELETAL MATURITY STAGES OF THE HAND-AND-WRIST IN NORMAL OCCLUSION (정상교합자의 사춘기성장과 수완부골 성숙단계에 관한 연구)

  • Park, Jin-Sung;Suhr, Cheong Hoon
    • The korean journal of orthodontics
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    • v.15 no.2
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    • pp.197-209
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    • 1985
  • To investigate the relationship between the pubertal spurt in body height and bone maturity of the hand-and-wrist in normal occlusion, the author X-rayed the hand-and-wrists of 1,141 students (male 614, female 527) and assessed their bone maturity. In this study, eleven skeletal stages were selected. The bones used to determine skeletal maturity were the ulnar sesamoid of the metacarpophalangeal joint of the first finger, the epiphyses of the proximal, middle, distal phalanges of the third finger, and middle phalanx of the fifth finger, and distal epiphysis of the radius. From the longitudinal data for height, an assessment was made of the change in growth velocity. The pubertal growth stage was divided into onset and peak height velocity phases. The results were as follows; 1. The onset of the pubertal growth was between the $PP_3=\;and\;MP_3=$ stage for boys, and between the $MP_3=\;and\;MP_5=$ stage for girls; the mean age of onset was 10.6 years for boys and 9.0 years for girls. 2. The peak height velocity was between the S and $MP_{3_{cap}}$ stage for boys, and between the $MP_{3_{cap}}$ and $MP_{5_{cap}}$ stage for girls; the mom age of peak height velocity was 12.5 years for boys and 10.9 years for girls. 3. As the stages of bone maturity progressed from $DP_{3u},\;to\;PP_{3u},\;MP_{3u}$, Ru, the peak height velocity had been reached, and the growth rate retarded, therefore the approach to full physical maturity was attained. 4. The evidence for the period of onset, peak height velocity and bone maturation suggested that girls were in advance of boys. During the latter part of pubertal growth, the rate of boys' bone maturation was faster than that of girls'.

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Radiographic Evaluation of Limb Bone Development in Miniature Porcine (미니돼지의 팔다리 뼈 성장에 대한 방사선학적 평가)

  • Chang, Jin-Hwa;Jung, Joo-Hyun;Choi, Min-Cheol
    • Journal of Life Science
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    • v.17 no.10
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    • pp.1315-1320
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    • 2007
  • Epiphyseal development in the long bones was studied radiographically in minipigs. Radiographs of the proximal and distal epiphyses of humerus, radius, ulna, femur and tibia were obtained at 4, 8, 12, 20, 40, 48, 96 and 144 weeks of age in total 58 minipigs. The assessment of maturity process was made in accordance with the criteria proposed by Owada and Sutow. The secondary ossification centers developed rapidly from 4 weeks of age to 40 weeks of age, and gradually thereafter until 96 weeks of age. The earliest epiphyseal fusion was apparent in the proximal radius, proximal and distal femur at 96 weeks of age. The complete fusion of the epiphyseal line in the long bones was evident on 144 weeks of age and was observed in most long bones such as the proximal humerus, the proximal and distal ulna and the distal radius, and the proximal tibia in minipigs.

The comparison of two different intraarticular injections using a sonographic anterolateral approach in patients with osteoarthritic knee

  • Choi, Jin Wook;Lee, Jun Ho;Ki, Minjong;Kim, Myung Jong;Kang, Sehrin;Lee, Juhyung;Lee, Jun-Rae;Han, Young-Jin;Son, Ji-Seon
    • The Korean Journal of Pain
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    • v.31 no.4
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    • pp.289-295
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    • 2018
  • Background: The intraarticular (IA) injection has become popular for the management of the osteoarthritic knee without an effusion. The success rate of IA injection would be better if it was able to be visually confirmed. We hypothesized that an anterolateral approach, which targets the synovial membrane of the lateral condyle using ultrasound, would provide an equivalent alternative to the anterolateral approach, targeting the synovial membrane of the medial condyle for IA injection of the knee. Methods: A total of 96 knees with osteoarthritis were randomized placed into the two groups, which were group I (anterolateral approach to the medial condyle) and group II (anterolateral approach to the lateral condyle). The primary outcome was to compare the success rate of the two methods of IA injection. The required length of the needle for injection was also measured and compared. Pain intensity was assessed using the Numeric Rating Scale in order to evaluate the success of injection. Results: There were no significant differences in the success rate between both groups. The success rate of group I and group II were 87.8% (95%, CI 78.7-97.0) and 91.5% (95%, CI 83.6-99.5), respectively (P = 0.549). The needle depth was $5.0{\pm}0.8$ (3.0 to 6.1 cm) in group I, and $3.0{\pm}0.8$ (1.5 to 5 cm) in group II (P < 0.001). Conclusions: The anterolateral approach to the lateral femoral condyle, using ultrasound, is an alternative method to the approach targeting the medial femoral condyle, using shorter needle.

A Clinically Diagnosed Case of Multiple Epiphyseal Dysplasia (임상적으로 진단된 다발성 골단이형성증 1례)

  • Kim, Sun-Ja;Cho, Sung Yoon;Kim, Jinsup;Huh, Rimm;Kwun, Younghee;Lee, Jieun;Shim, Jongsup;Kim, Ok-Hwa;Jin, Dong-Kyu
    • 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.

Acrodysostosis Associated with Symptomatic Cervical Spine Stenosis

  • Ko, Jung-Min;Kwack, Kyu-Sung;Kim, Sang-Hyun;Kim, Hyon-Ju
    • Journal of Genetic Medicine
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    • v.7 no.2
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    • pp.145-150
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    • 2010
  • Acrodysostosis is an extremely rare disorder characterized by short fingers and toes with peripheral dysostosis, nasal hypoplasia, and mental retardation. We report a 16-year-old Korean boy with acrodysostosis who had characteristic clinical features and cervical spine stenosis manifested by neurologic symptoms. On presentation, he complained of difficulty in raising his arms, and suffered from intermittent pain and weakness in both upper extremities. He had short stature and dysmorphic facial features, including a broad, depressed nasal bridge, small, upturned nose, bilateral epicanthal folds, and mild hypertelorism. Moderate mental retardation and sensorineural hearing loss in both ears were also present. Radiological findings included broad, short metacarpals and phalanges with cone-shaped epiphyses, bilateral Madelung deformities, hypertrophied first metatarsals, and thickening of the calvarium. Magnetic resonance imaging findings included stenosis of the cervical spine, platybasia with compression into the cervicomedullary junction, and downward displacement of the cerebellar tonsils. Here, we report a case of acrodysostosis with symptoms and signs of cervical spinal stenosis first in Korea. If it is diagnosed in the early stages, possible life-threatening complications, including spinal canal stenosis, can be managed properly and permanent neurologic sequelae might be avoided. Therefore, it is important to consider acrodysostosis in the differential diagnosis of peripheral dysostosis.