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Ko Ara,Lee Geun Young,Kim Sujin,Lee Jaesung,Hwang Hye Won 대한영상의학회 2021 대한영상의학회지 Vol.82 No.6
Fibroma of the tendon sheath is a benign slow-growing fibrous tumor. Although rare, cases occurring in the upper extremities usually involve the fingers. It appears as a well-defined, roundor oval-shaped mass originating from the flexor tendon. Abundant fibrous stroma makes fibromas appear as a low intensity mass in all MRI sequences. Most of the fibromas manifest as painless soft tissue masses. Herein, we report a case of fibroma of the tendon sheath with an unusual clinical presentation, triggering carpal tunnel syndrome during wrist movement.
Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR
Hye won Woo,Jung Min Ko,Choong Ho Shin,Sei Won Yang 대한의학유전학회 2016 대한의학유전학회지 Vol.13 No.1
Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of 17α-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.
P148 : A clinical study of skin diseases on vulvar
( Hye Rim Ko ),( So Min Kim ),( Chae Young Won ),( Hyung Jin Hahn ),( Young Bok Lee ),( Jin Wou Kim ),( Dong Soo Yu ) 대한피부과학회 2014 대한피부과학회 학술발표대회집 Vol.66 No.2
Background: Vulvar diseases are not rare in dermatology, however the clinical investigations of the vulvar lesions are insufficient. Objectives: The purpose of this study was to investigate the epidemiological aspects of the vulvar diseases, and to highlight the clinical features of dermatoses of the vulvar with the brief review of the common vulvar diseases. Methods: The retrospective clinical study was performed by reviewing charts, pathologic slide, and clinical photographs of 37 patients who had received skin biopsy for vulvar lesions at Uijeongbu St. Mary’s Hospital between February 2009 and September 2013. Results: The mean age was 47.3 years. The most frequent vulvar diseases were epidermal cyst, lichen sclerosus, lichen simplex chronicus, herpes simplex infection and condyloma accuminatum in the decreasing order of frequency. Except for the 11 asymptomatic patients, the rest of the patients complained of various symptoms such as a pain, prickling sensation, tenderness and pruritus. Of the 37 cases, 14 had patches or plaques, 11 had papules or nodules, 6 had erosions or ulcers and 6 had vulvar mass. Conclusion: We retrospectively studied 37 cases of vulvar diseases. The results of this study are similar to previousreports on the clinical features of vulvar diseases. This study suggests that various conditions can affect the vulvar. Further investigation with a larger group of patients is necessary to better understand the epidemiology of vulvar diseases.
Ko, Jung Min,Lim, Byung Chan,Kim, Ki Joong,Hwang, Yong Seung,Ryu, Hye Won,Lee, Jung Ho,Kim, Jon Su,Chae, Jong-Hee Springer Verlag 2013 Child’s nervous system Vol.29 No.4
<P>Schinzel-Giedion syndrome (SGS) is a rare multiple congenital malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. Most individuals affected by SGS die in early childhood mainly because of progressive neurodegeneration and respiratory failure. The causative gene of SGS, SETBP1, was identified, but there are few reports of SGS with molecular confirmation worldwide.</P>