• Investigative Magnetic Resonance Imaging
• /
• 제21권4호
• /
• pp.273-275
• /
• 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.

• Journal of Genetic Medicine
• /
• 제15권2호
• /
• pp.97-101
• /
• 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.

• Preventive Nutrition and Food Science
• /
• 제16권2호
• /
• pp.110-116
• /
• 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).

• Archives of Reconstructive Microsurgery
• /
• 제4권1호
• /
• pp.16-22
• /
• 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.

• 대한치과교정학회지
• /
• 제15권2호
• /
• pp.197-209
• /
• 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'.

• 생명과학회지
• /
• 제17권10호
• /
• pp.1315-1320
• /
• 2007

미니돼지의 긴 뼈의 뼈끝(epiphysis) 성장에 대한 연구를 위해 상완골, 요골, 척골, 대퇴골, 경골의 근위 및 원위 뼈끝 부위를 중심으로 방사선 촬영을 실시하였다. 실험에 이용된 미니돼지의 연령대는 4주, 8주, 12주, 20주, 40주, 48주, 96주, 144주령으로 총 58마리였다. 뼈 성장과정에 대한 평가는 Owada & Sutow가 제안한 11가지 기준을 토대로 하였다. 긴 뼈에서 이차뼈발생중심은 4주령에서 40주령까지 빠른 성장을 보였고, 그 이후 96주령까지는 초기보다 느린 성장을 보였다. 가장 빠른 뼈끝 유합시기는 96주령으로 근위 요골, 근위 및 원위 대퇴골에서 관찰되었다. 미니돼지의 일반적인 긴 뼈의 완전한 뼈끝 유합은 144주령에 나타났으며 근위 상완골, 근위 및 원위 척골, 원위 요골, 그리고 근위 경골에서 관찰되었다.

• The Korean Journal of Pain
• /
• 제31권4호
• /
• pp.289-295
• /
• 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.

• 대한유전성대사질환학회지
• /
• 제15권1호
• /
• pp.49-54
• /
• 2015

다발성 골단이형성증은 비교적 흔한 골이형성증으로 소아기에 관절통과 관절 강직, 뒤뚱거리면 걸어가는 보행 및 일부에서 경한 저신장을 특징으로 하며 영상의학적 검사에서는 여러 관절에서 골단의 불규칙한 소견과 골화 지연을 보인다. 본 증례 환자는 임상적, 영상의학적으로 다발성 골단이형성증을 진단 할 수 있었으며 환자의 넓적다리 관절 영상 검사는 MATN3 유전자 변이를, 무릎 관절 영상 검사는 COMP 유전자 변이를 시사하였기에 MATN3과 COMP 유전자 변이에 대해 시퀀싱(sequencing)을 하였으나, 변이는 발견되지 않았다. 이후 엑솜시퀀싱(exomesequencing)을 시행하였으나, 기존에 다발성 골단이형성증과 관련이 있는 것으로 알려진 유전자에 대한 변이가 발견되지 않았다. 본 증례와 같이 임상적, 영상의학적으로 다발성 골단이형성증으로 진단가능 하였으나 분자유전학적으로 기존에 알려진 변이 유전자가 발견되지 않은 환자들을 위해 추가적인 연구가 필요할 것으로 보인다.

• Journal of Genetic Medicine
• /
• 제7권2호
• /
• pp.145-150
• /
• 2010

선단이골증(acrodysostosis)은 매우 드문 골격계 이형성 질환의 하나로, 말단골 이형성을 보이는 짧은 손가락과 발가락, 코뼈의 저형성 및 정신지체를 그 특징으로 한다. 본 증례에서 저자들은 전형적인 임상 양상을 보이면서 신경 증상 및 징후와 경추관 협착을 동반한 선단이골증 16세 남아를 경험하여 보고 하고자 한다. 환아는 양쪽 상지의 간헐적인 통증과 위약감을 호소하였으며 양팔을 높이 들어올리는 것이 불가능함을 주소로 내원하였다. 신체 검진상 저신장을 보였으며 넓으면서도 낮은 콧등, 작고 위로 들려 올라간 코끝, 양쪽 눈의 안쪽 눈구석 주름 및 경한 양안격리증 등 특징적 안면 소견을 보였다. 신경심리검사상 중등도의 정신지체가 확인되었으며 청력검사상 양측의 신경성 난청 소견이 동반되어 있었다. 방사선학적 검사에서는, 원뿔 모양의 골단을 보이는 넓으면서도 짧은 중수골 및 지골, 양측 전와부의 마델룽 변형(Madelung deformity), 과형성된 첫 번째 중족골과 두꺼워진 두개골이 확인되었다. 뇌 및 척추 자기공명영상검사에서는 경추관 협착, 경추-연수 접합부의 압박을 동반한 편평두개저 및 소뇌 편도의 하방 이동 소견을 보였다. 선단이골증에서 동반되는 경추관 협착증은 시간이 지남에 따라 진행하는 경향을 보이므로, 6개월 후 추적 영상검사에서 진행되는 소견을 보이거나 증상이나 징후가 악화될 경우에는 수술적 갑압술을 실시할 계획이다. 본 증례는 선단이골증의 국내 보고로는 두 번째이나, 경추관 협착증의 증상 및 징후를 동반한 선단이골증의 첫 번째 보고이다. 선단이골증에서의 척추관 협착증은 시간이 지남에 따라 진행하는 증상이며 심각한 합병증이 초래될 수 있기 때문에, 특징적 임상 양상을 보이는 환자를 조기에 진단할 수 있다면 이러한 합병증에 대한 적절한 치료로서 치명적인 신경학적 후유증의 발생을 피할 수 있다. 따라서, 말단골의 이형성을 보이는 환자의 중요한 감별 질환 중 하나로 선단이골증은 반드시 고려되어야 할 것이다.