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국내 제2형 신경섬유종증 환자의 유전자 돌연변이와 임상증상 분석
강현택,이재용,이윤지,이세아,전병열,이종대 대한이비인후과학회 2021 대한이비인후과학회지 두경부외과학 Vol.64 No.10
Background and Objectives Neurofibromatosis type 2 (NF2) is a rare autosomal dominantdisorder characterized as bilateral vestibular schwannoma (VS), various brain and spinal tumors. This study is aimed to investigate the relationship between the genotypes and phenotypesof NF2 found in the Korean population. Subjects and Method We retrospectively reviewed 11 patients who were diagnosed withNF2 and observed them for more than a year. NF2 gene mutations were detected using Sangersequencing and multiplex ligation-dependent probe amplification (MLPA). The mutationswere classified into tissue mosaicism, classic, and severe genotypes according to the UK NF2genetic severity score. Tumor load was assessed by reviewing MR images and audiologicalfindings were analyzed. Results We identified 7 cases (63.6%) of mutations from 11 patients who were diagnosedwith NF2. While three patients showed classic and four showed severe genotypes, four patientswere presumed as tissue mosaicism. The patients with severe genotypes didn’t show more severeclinical manifestations in terms of tumor load and hearing. Four patients with tissue mosaicismwere detected in the older age group than those with mutation. Of the five patients whohad serviceable bilateral hearing at the initial diagnosis, all maintained their serviceable hearingduring the follow-up. Conclusion Our results, which showed that the clinical manifestations of NF2 found in theKorean population have no correlation with the genotype findings, are not in agreement withprevious studies. However, further studies with larger sample sizes are needed to give moreappropriate counsel.
강현택,이윤지,김효준,최지호 대한수면의학회 2018 수면·정신생리 Vol.25 No.2
Catathrenia가 환자에게 어떠한 신체적 문제를 유발하며 장기간 지속되는 경우에는 어떠한 합병증을 유발하는지, 자 연경과는어떻게되는지등예후관련해서도아직까지구 체적으로확인된바는없다.이와같은많은의학적궁금증 들이 해소되기 위해서는 매우 드문 질환이긴 하지만 향후 지속적인문헌수집을통한질환분석과함께전향적연구 가 필요할 것으로 사료된다. Catathrenia is a rare sleep disease characterized by monotonous groaning sounds that appear to be related with prolonged expiration, commonly experienced during rapid eye movement (REM) sleep. Catathrenia is also known as nocturnal groan- ing or sleep-related groaning and is currently categorized as a sleep-related breathing disorder. We present a rare case of a 19-year-old male with nocturnal groaning during non-REM sleep. We suggest that if catathrenia is suspected, polysomnog- raphy should be utilized to differentiate it from various sleep disorders such as snoring, central sleep apnea, sleep talking, parasomnia, and sleep-related movement disorders.
기본섬유아세포 성장인자와 콜라겐 골격으로 치료한 난치성 성대 반흔 1예
강현택,김효준,박기남,이승원 대한후두음성언어의학회 2019 대한후두음성언어의학회지 Vol.30 No.2
Vocal fold scarring is an intractable phonosurgical condition. The number of patients with vocal fold scars is increasing with the aging of society and with the increasing application of laryngeal microsurgery. Many methods are available to treat these, including voice therapy, stem cells, regenerative scaffolds, and growth factors. However, no standard treatment strategy has yet been established, and novel techniques are required. Basic fibroblast growth factor has been shown to be effective for the treatment of mild chronic vocal fold scarring. The combined use of basic fibroblast growth factor and regenerative scaffolds is currently under investigation. Here, we report a female patient in whom vocal fold scarring developed after two laryngeal microsurgeries. We performed laryngeal microsurgery to remove the scar tissue and used basic fibroblast growth factor and a collagen scaffold to promote healing. The patient’s voice quality was greatly increased, and she was content with her voice after 2 years of follow-up. This is the first report of this methodology in Korea and is presented along with a review of the literature.
PCS Channel Combiner 구현을 위한 감쇄극을 갖는 유전체 공진기 대역통과 여파기의 설계
강현택,명성호,김철수,박준석,안달,박종철,박성열,김근영,Kang, Hyun-Taek,Myung, Sung-Ho,Kim, Chul-Soo,Park, Jun-Seok,Ahn, Dal,Park, Jong-Chul,Park, Sung-Yuel,Kim, Geun-Young 대한전자공학회 2000 電子工學會論文誌-TC (Telecommunications) Vol.37 No.4
본 논문에서는 PCS 채널 combiner를 위한 새로운 구조의 유전체 공진기 대역통과 여파기를 제안하고, 이를 이용하여 2-채널 PCS 채널 combiner를 구현하였다. 제안된 감쇄극을 갖는 유전체 공진기 채널 대역 통과 여파기는 집중소자 등가회로를 이용하여 설계하였다. 본 논문에서 제안된 유전체 공진기 채널 대역통과 여파기는 저지대역내의 감쇄극을 가지므로 기존의 채널 여파기와 비교하여 적은 공진기 수를 가지고 같은 감쇄 특성을 얻을 수 있어 작은 크기와 적은 삽입손실 특성을 갖고 양호한 온도 특성의 구현이 가능한 장점 을 갖는다. In this paper, the novel dielectric resonator bandpass filter for Korea personal communication service channel combiner is proposed. The equivalent circuit of the channel bandpass filter is derived using the lumped elements. Proposed channel bandpass filter provides compact size, low insertion loss, two attenuation poles in the stop band, and excellent temperature characteristics. Two channel filters are combined with proposed dielectric resonator filter configuration to implement the 2-channel combiner. Experimental results show the validity of the proposed dielectric resonator channel bandpass filter.