• Title/Summary/Keyword: Intractable

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Brain somatic mutations in MTOR leading to focal cortical dysplasia

  • Lim, Jae Seok;Lee, Jeong Ho
    • BMB Reports
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    • v.49 no.2
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    • pp.71-72
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    • 2016
  • Focal cortical dysplasia type II (FCDII) is a focal malformation of the developing cerebral cortex and the major cause of intractable epilepsy. However, since the molecular genetic etiology of FCD has remained enigmatic, the effective therapeutic target for this condition has remained poorly understood. Our recent study on FCD utilizing various deep sequencing platforms identified somatic mutations in MTOR (existing as low as 1% allelic frequency) only in the affected brain tissues. We observed that these mutations induced hyperactivation of the mTOR kinase. In addition, focal cortical expression of mutant MTOR using in utero electroporation in mice, recapitulated the neuropathological features of FCDII, such as migration defect, cytomegalic neuron and spontaneous seizures. Furthermore, seizures and dysmorphic neurons were rescued by the administration of mTOR inhibitor, rapamycin. This study provides the first evidence that brain somatic activating mutations in MTOR cause FCD, and suggests the potential drug target for intractable epilepsy in FCD patients.

Report on the Clinical Treatment of Psoriasis Patients (건선(乾癬)환자의 임상(臨床) 치험례(治驗例) 보고)

  • Weon, Young-Ho;Jang, Yan-Su;Hong, You-Han
    • The Journal of Korean Medicine Ophthalmology and Otolaryngology and Dermatology
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    • v.21 no.2
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    • pp.165-175
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    • 2008
  • Psoriasis, which is characterized by the covering of silver-white scaliness and various Sizes of redness with clear boundary, is an intractable skin disease that repeats aggravation and remission. The objective of the present clinical report is to demonstrate that oriental medical treatment after differentiation of syndromes is effective in treating psoriasis, an intractable skin disease. For this purpose, we identified the pattern of three psoriasis patients based on blood heat and viscous blood, and applied acupuncture and herbal medicine to them. The effect of treatment was evaluated using PASI (psoriasis area and severity index). In all of the three cases, the results of treatment were satisfactory. Thus, oriental medical treatment after differentiation of syndromes, which is highly effective without side effect, is considered to make a great contribution to the treatment of psoriasis in the future.

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Intractable Plantar Keratoses due to Interphalangeal Sesamoid Bone of the Hallux (A Case Report) (족무지 지관절 종자골에 의한 난치성 족저 각화증 (증례보고))

  • Chae, Soo Uk;Kim, Gang Deuk;Kim, Jong Yun;Cha, Myoung Soo
    • Journal of Korean Foot and Ankle Society
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    • v.17 no.3
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    • pp.239-242
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    • 2013
  • A sesamoid bone can occasionally be found under the interphalangeal joint of the hallux. These had anatomical variants and usually remain asymptomatic, it is uncommon for symptomatic cases of painful plantar keratoses or irreducible dislocation of interphalangeal joint of the hallux with incarcerated sesamoid. While the latter has a few cases, the former has not reported in Korea. We experienced a rare case of intractable plantar keratoses due to interphalangeal sesamoid bone of the hallux which may reqire excision.

Effect of Water Extracts from Thesium chinense Tunczaninov and Prunella vulgaris L. on Aromatase and Cyclooxygenase Activities (하고초 열수추출물이 Aromatase와 Cyclooxygenase 활성에 미치는 영향)

  • Nam, Kyung-Soo;Shon, Yun-Hee
    • Korean Journal of Pharmacognosy
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    • v.35 no.2 s.137
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    • pp.147-151
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    • 2004
  • Water extracts from Thesium chinense Tunczaninov (TCTW) and Prunella vulgaris L. (PVW) were tested for aromatase and cyclooxygenase activities. TCTW and PVW were capable of suppressing aromatase in a human placenta microsomal assay. PVW was shown to be more effective than TCTW in the suppression of aromatase activity. TCTW significantly inhibited cyclooxygenase-2 (COX-2) activity at the concentration of 0.25 (p<0.05), 0.5 (p<0.01) and 2.5 mg/ml (p<0.005). PVW also inhibited COX-2 activity in a dose-dependent manner in a concentration range of $0.05{\sim}2.5\;mg/ml$. The expression of COX-2 was inhibitied by TCTW and PVW in western blot analysis. These results suggest that TCTW and PVW may have breast cancer chemopreventive potentials by inhibiting aromatase and cyclooxygenase activities.