http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
The Genotype and Clinical Phenotype of Korean Patients with Familial Hypokalemic Periodic Paralysis
김준범,Man Ho Kim,Soon Ju Lee,김대중,Byung Churl Lee 대한의학회 2007 Journal of Korean medical science Vol.22 No.6
Familial hypokalemic periodic paralysis (HOPP) is a rare autosomal-dominant disease characterized by reversible attacks of muscle weakness occurring with episodic hypokalemia. Mutations in the skeletal muscle calcium (CACNA1S) and sodium channel (SCN4A) genes have been reported to be responsible for familial HOPP. Fifty-one HOPP patients from 20 Korean families were studied to determine the relative frequency of the known mutations and to specify the clinical features associated with the identified mutations. DNA analysis identified known mutations in 12 families: 9 (75%) were linked to the CACNA1S gene and 3 (25%) to the SCN4A gene. The Arg528His mutation in the CACNA1S gene was found to be predominant in these 12 families. Additionally, we have detected one novel silent exonic mutation (1950C>T) in the SCN4A gene. As for a SCN4A Arg669His mutation, incomplete penetrance in a woman was observed. Characteristic clinical features were observed both in patients with and without mutations. This study presents comprehensive data on the genotype and phenotype of Korean families with HOPP.
김준범,차진한,김상윤,Kim, Joon-Buhm,Cha, Jin-Han,Kim, Sang-Yoon 대한미세수술학회 1992 Archives of reconstructive microsurgery Vol.1 No.1
Benign peripheral nerve tumors, although infrequent, must be considered as a possible cause of pain and disability in the extremities. There are three varieties of these tumors that are of clinical importance: neurilemmomas, neurofibromas, and post-traumatic neuroma. Neurilemmomas are the most common primary solitary tumor of the peripheral nerve trunks, and are almost always benign, Neurofibromas may occur as a solitary nerve tumor, but can present as multiple lesions as in von Recklinghausen's disease. Clinically, this tumor may presents as a solitary mass in the subcutaneous tissue which is centrally located with the nerve fibers travelling through the tumor mass. Traumatic neuroma is the proliferation of nerve elements with connective tissue during the process of regeneration from severed nerves undergoing Wallerian degeration, and is therefore not a true neoplasm. A neuroma-in-countinuity is the result of partial severance of a nerve, or of a crushing or traction injury in which all or part of the epineurium and perineurium is intact. We experienced each of the three varieties. With magnification, the neurilemmoma was removed by meticulous dissection from the parent nerve preserving the normal fascicles to which it was attached. The neurofibroma was excised and the nerve was reconstructed with interposed vein graft and the neuroma-in-continuity was excised and reconstructed with sural nerve graft. We report histologic characteristics of each tumors and the methods to repair the nerve defects after tumor excision with brief discussion.
전족부에 발생한 색소 융모 결절성 활액막염 (1례 보고)
김준범,송인수,전재균,김태인,선동혁,이경태,Kim, Jun Beom,Song, In Soo,Chon, Je Gyun,Kim, Tae In,Sun, Dong Hyuk,Lee, Kyung Tai 대한족부족관절학회 2013 대한족부족관절학회지 Vol.17 No.1
Pigmented villonodular synovitis (PVNS) is a slowly, progressive, proliferative disorder of synovial tissue characterized by villous or nodular changes of synovial-lined joints, bursae, and tendon sheaths and most frequently affects the large joints, with the knee and hip. A few studies have been reported that occurred PVNS in small joint, but mainly in hands. It is a very rare condition that occurs in the small joints of the forefoot. We have experienced the case, which developed in small joint of the forefoot, and performed total synovectomy. After the operation, there was no recurrence. We report a case of PVNS in forefoot with a review of the literature.