Reversible reddish skin color change in a patient with compressive radial neuropathy

Background The motor and sensory symptoms caused by compressive radial neuropathy are well-known, but the involvement of the autonomic nervous system or the dermatologic symptoms are less well known. We report an unusual case of compressive radial neuropathy with reversible reddish skin color change. Case presentation A 42-year-old man was referred for left wrist drop, finger drop and a tingling sensation over the lateral dorsum of the left hand. Based on clinical information, neurologic examinations and electrophysiologic studies, he was diagnosed with compressive radial neuropathy. In addition, a reddish skin color change was observed at the area of radial sensory distribution. After two weeks of observation without specific treatment, the skin color had recovered along with a marked improvement in weakness and aberrant sensation. Conclusions Compressive radial neuropathy with a reversible reddish skin color change is unusual and is considered to be due to vasomotor dysfunction of the radial autonomic nerve. Compressive radial neuropathy is presented with not only motor and sensory symptoms but also autonomic symptoms; therefore, careful examination and inspection are needed at diagnosis

운동신경세포에서 돌연변이 CuZn superoxide dismutase 유전자 발현에 의한 세포 골격 단백질의 변화

Thesis(doctoral)--서울대학교 대학원 :의학과 뇌신경과학전공,2006.Docto

염색체 17p11.2 유전자 결손을 동반한 유전성 압박마비 편향 신경병증의 임상적,전기생리학적 특성

학위논문(석사)--서울대학교 대학원 :의학과 신경과학전공,2003.Maste

경사증착을 이용한 박막 태양전지의 자기정렬 집적화 기술개발

학위논문(박사) - 한국과학기술원 : 전기및전자공학과, 2014.2, [ vii, 87 p. ]Every solar module consists of individual solar cells electrically connected in series to obtain proper power. Fortunately, thin film solar module is easy to fabricate a large size and a simple process to divide a large area format thin film solar cell into oblong strip-type small area solar cells. Laser scribing has received a great deal of attention because it provides non-contact, precision, and narrower cutting than mechanical scribing to reduce the dead zone. However, it has been hard to apply for various thin film solar cells which uses flexible substrates or substrate-type solar cells. The purpose of this work is to develop self-aligned series connection (SASC) for thin film solar cells using oblique deposition without conventional laser scribing process. Oblique deposition can enable a film deposition and isolation at the same time due to a ballistic shadowing in a high vacuum state. In order to achieve this object, oblique deposition apparatus was invented. It showed steady and reproducible deposition results as the oblique angle changes. Using this apparatus, a new integration method was fabricated. The series connection using oblique deposition has some advantages compared to conventional laser scribing process Firstly, the dead zone area which does not contribute to electricity generation can be significantly decreased from 300한국과학기술원 : 전기및전자공학과

Development of thin film solar cell integration technology

학위논문(석사) - 한국과학기술원 : 전기및전자공학전공, 2008.2, [ iii, 49 p. ]박막 태양전지 집적 기술은 낮은 효율을 극복하기 위한 박막 태양전지 모듈산업에 있어서 특히 중요하다. 대부분의 박막 태양 전지 모듈의 집적화는 세 번의 레이저 스크라이빙 공정 방법을 사용한다. 이 공정은 간단하지만 큰 무효면적을 야기시킨다. 무효면적이 커질수록 모듈에서 손실되는 에너지는 커진다. 우리는 박막 태양전지의 새로운 집적화 기술을 제안하고 실험적으로 증명하였다. 비정질 실리콘 박막 태양전지를 PECVD를 사용하여 전면 전극부터 이면전극까지 완전히 만든 후에 새로 디자인한 레이저 스크라이빙 방법으로 패터닝 한다. 다음에 높은 경사를 갖는 두 개의 SU-8 둑을 만들고 두 번의 경사증착을 수행한다. 이러한 박막 태양전지 집적화 기술을 사용하여 우리는 세 개의 단위 셀을 직렬 연결한 모듈을 만들었다. 모듈 크기는 $1.35 cm^2$, 개방전압과 단락 전류는 각각 2.51V, 18.8mA, 최대 파워는 8.95mW 이다. 무효면적의 크기는 1/5 로 줄였고 단위 셀 효율의 변화는 거의 없었다. 본 집적화 기술은 박막 태양전지를 포함한 적층형 박막 태양전지에도 적용 가능한 기술로 향후 박막 태양전지 모듈 산업에 필요한 고효율 태양전지 모듈을 만들 수 있는 독자적 기술로써의 가능성을 확인하였다.한국과학기술원 : 전기및전자공학전공

A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A

Mutations in mitofusin-2 (MFN2) are the most common cause of axonal Charcot-Marie-Tooth (CMT) neuropathy. Herein, we report a novel double mutation in cis (c.[474+4A > G; 668T > A]) in a Korean family with late-onset autosomal dominant mild axonal CMT. Transcriptional analysis demonstrated aberrant splicing with exon 5 skipping and premature termination of translation before the missense mutation in exon 7. Interestingly, the aberrant splicing was incomplete, with some of the primary transcripts being spliced correctly and expressing the downstream missense mutation. The pathogenic relevance of the missense mutation would not be appreciated without the leaky aberrant splicing and the insensitivity of MFN2 to haploinsufficiency.OAIID:oai:osos.snu.ac.kr:snu2012-01/102/2008000967/1SEQ:1PERF_CD:SNU2012-01EVAL_ITEM_CD:102USER_ID:2008000967ADJUST_YN:YEMP_ID:A077101DEPT_CD:801CITE_RATE:3.354FILENAME:MFN2_neurogenetics.pdfDEPT_NM:의학과EMAIL:[email protected]_YN:YCONFIRM:

Repeated low-dose rituximab treatment based on the assessment of circulating B cells in patients with refractory myasthenia gravis

Background: The objective of this study was to evaluate the efficacy and safety of repeated low-dose rituximab treatment guided by monitoring circulating CD19+ B cells in patients with refractory myasthenia gravis (MG). Methods: Patients with refractory MG who had received rituximab treatment at two teaching hospitals between September 2013 and January 2017 were reviewed retrospectively. The treatment protocol consisted of an induction treatment with low-dose rituximab (375 mg/m(2) twice with a 2-week interval), followed by retreatment (375 mg/m(2) once). Retreatment was based on either circulating CD19+ B-cell repopulation or clinical relapse. Outcome measures included the MG Foundation of America (MGFA) clinical classification and postintervention status, prednisolone dose, CD19+ B-cell counts, clinical relapse, and adverse effects. Results: Of 17 patients, 11 (65%) achieved the primary endpoint, defined as the minimal manifestation or better status with prednisolone <= 5 mg/day, after median 7.6 months (range, 2-17 months) following rituximab treatment. Over a median follow up of 24 months (range, 7-49 months), a total of 30 retreatments were undertaken due to clinical relapse without B-cell repopulation (n = 6), on the basis of B-cell repopulation alone (n = 16) and both (n = 8). B-cell recovery appeared to be in parallel with clinical relapse on the group level, although the individual-level association appeared to be modest, with B-cell repopulation observed only at 57% (8/14) of clinical relapses. Conclusions: The repeated low-dose rituximab treatment based on the assessment of circulating B-cell depletion could be a cost-effective therapeutic option for refractory MG. Further studies are needed to verify the potentially better cost-effectiveness of low-dose rituximab, and to identify biomarkers that help optimize treatment in MG patients.OAIID:RECH_ACHV_DSTSH_NO:T201915973RECH_ACHV_FG:RR00200001ADJUST_YN:EMP_ID:A079500CITE_RATE:3.58DEPT_NM:의학과EMAIL:[email protected]_YN:YY

Electrodiagnostic data-driven clustering identifies a prognostically different subgroup of patients with chronic inflammatory demyelinating polyneuropathy

Objective This study aimed to explore the correlations between electrodiagnostic (EDX) features in patients with chronic inflammatory demyelinating polyneuropathy (CIDP) and to investigate whether EDX data-driven clustering can identify a distinct subgroup regarding clinical phenotype and treatment response. Methods We reviewed clinical and EDX data of 56 patients with definite CIDP fulfilling the 2010 European Federation of Neurological Societies and Peripheral Nerve Society criteria at two teaching hospitals. A hierarchical agglomerative clustering algorithm with complete linkage was used to partition the patients into subgroups with similar EDX features. A stepwise logistic regression analysis was performed to evaluate predictors of the long-term outcome. Results EDX data-driven clustering partitioned the patients into two clusters, identifying a distinct subgroup characterised by coexistence of prominent conduction slowing and markedly reduced distally evoked compound muscle action potential (CMAP) amplitudes. This cluster of patients was significantly over-represented by an atypical subtype (distal acquired demyelinating symmetric polyneuropathy) compared with the other cluster (70% vs 26.1%, p=0.042). Furthermore, patients in this cluster invariably showed favourable long-term treatment outcome (100% vs 63%, p=0.023). In logistic regression analyses, the initial disability (OR 6.1, 95% CI 2.4 to 25.4), F-wave latency (OR 0.93, 95% CI 0.86 to 0.98) and distal CMAP duration (OR 0.96, 95% CI 0.91 to 0.99) were significant predictors of the poor long-term outcome. Conclusion Our results show that EDX data-driven clustering could differentiate a pattern of EDX features with prognostic implication in patients with CIDP. Reduced distally evoked CMAPs may not necessarily predict poor responses to treatment, and active treatment is warranted when prominent slowing of conduction is accompanied in the distal segments.OAIID:RECH_ACHV_DSTSH_NO:T201905480RECH_ACHV_FG:RR00200001ADJUST_YN:EMP_ID:A079500CITE_RATE:7.144DEPT_NM:의학과EMAIL:[email protected]_YN:YN

Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy

Spinobulbar muscular atrophy (SBMA) is an X-linked recessive disease, presenting motor weakness and wasting of facial, bulbar and limb muscles. Hereditary neuropathy with liability to pressure palsy (HNPP) is autosomal dominant disorder characterized by recurrent neuropathies at common entrapment sites. We xeport a case of co-existence of SBMA and atypical HNPP with genetic confirmation of CAG expansion in the androgen receptor (AR) gene and deletion of the peripheral myelin protein 22 (PMP22) gene. A 62 year-old man presented with progressive muscle weakness, fasciculations in upper and lower limbs and dysesthesia predominantly in the distal regions. No family members, including his children, experienced similar symptoms. The electrodiagnostic examination was compatible with demyelinating sensorimotor polyneuropathy. Simultaneous hereditary polyneuropathy and motor neuron disease were suspected and relevant genetic testing was confirmed HNPP and SBMA. This case presented with 2 rare genetic neuromuscular disorders and the atypical HNPP phenotype. This case highlight the importance of detailed patient histories, as well as neurological and electrophysiological examinations for diagnosis of atypical and combination of rare genetic disorders. (C) 2017 Elsevier Ltd. All rights reserved.OAIID:RECH_ACHV_DSTSH_NO:T201800934RECH_ACHV_FG:RR00200001ADJUST_YN:EMP_ID:A079500CITE_RATE:1.64DEPT_NM:의학과EMAIL:[email protected]_YN:YN

Comparison of MOG and AQP4 antibody seroprevalence in Korean adults with inflammatory demyelinating CNS diseases

We aimed to compare seroprevalence of anti-myelin oligodendrocyte glycoprotein (MOG) and anti-aquaporin-4 (AQP4) antibodies in Korean adults with inflammatory demyelinating diseases (IDDs) of the central nervous system (CNS), based on a multicenter nationwide database. Sera were analyzed using a live cell-based assay for MOG and AQP4 antibodies. Of 586 Korean adults with IDDs of the CNS, 36 (6.1%) and 185 (31.6%) tested positive for MOG and AQP4 antibodies, respectively. No participant showed double positivity. Seroprevalence of MOG antibodies was about five times lower than that of AQP4 antibodies in a large cohort of Korean adults with IDDs of the CNS