• Title/Summary/Keyword: CMT1A

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Wide phenotypic variations in Charcot-Marie-Tooth 1A neuropathy with rare copy number variations on 17p12

  • Kanwal, Sumaira;Choi, Byung-Ok;Kim, Sang-Beom;Koo, Hea-Soo;Kim, Jee-Young;Hyun, Young-Se;Lee, Hye-Jin;Chung, Ki-Wha
    • Animal cells and systems
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    • v.15 no.4
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    • pp.301-309
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    • 2011
  • Charcot-Marie-Tooth disease (CMT) is clinically heterogeneous hereditary motor and sensory neuropathies with genetic heterogeneity, age-dependent penetrance, and variable expressivity. Rare copy number variations by nonrecurrent rearrangements have recently been suggested to be associated with Charcot-Marie-Tooth 1A (CMT1A) neuropathy. In our previous study, we found three Korean CMT1A families with rare copy number variations (CNVs) on 17p12 by nonrecurrent rearrangement. Careful clinical examinations were performed in all the affected individuals with rare CNVs (n=19), which may be the first full study of a subject from a large CMT1A family with nonrecurrent rearrangement. The clinical phenotype showed no significant difference compared with common CMT1A patients, but with variable phenotypes. In particular, a broad intrafamilial phenotypic spectrum was observed within the same family, which may suggest the existence of a genetic modifier. This study may broaden the understanding of the role of CNVs in the pathogenesis of CMT.

Effects of Chuna Manual Therapy(CMT) on Rotator Cuff Disorder: A Systematic Review (회전근개 질환에 대한 추나 치료의 효과: 체계적 문헌 고찰)

  • Hong, Su-Min;Do, Ki-Won;Yoon, Kwang-Sik
    • The Journal of Churna Manual Medicine for Spine and Nerves
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    • v.16 no.1
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    • pp.1-11
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    • 2021
  • Objectives This study aimed to evaluate the efficacy of Chuna manual therapy(CMT) in the treatment of rotator cuff disorder. Methods We searched th following nine online databases without language restriction (MEDLINE/PubMed, Cochrane library, Ebscohost, CNKI, RISS, NDSL, KMBASE, and KISS) to identify randomized controlled trials (RCTs) that used CMT in the treatment of rotator cuff disorder. The methodological quality of each RCT was assessed using the Cochrane risk-of-bias tool. Results Four RCTs were included. in the meta-analysis. CMT resulted in a significant reduction in symptoms in these trials. However, there was a high risk of bias in the RCTs. Conclusions We reviewed RCTs that studied the effects of CMT for rotator cuff disorder. While the studies indicate that CMT has favorable effects on rotator cuff disorder. But the risk of bias for most of the studies was high. Therefore, high-quality studies are required to make further conclusions.

Chuna Manual Therapy for Spinal Scoliosis : A Review of Clinical Study (척추측만증의 추나치료에 대한 문헌 고찰 연구 보고)

  • Heo, In
    • The Journal of Churna Manual Medicine for Spine and Nerves
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    • v.14 no.1
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    • pp.39-47
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    • 2019
  • Objectives : The purpose of this study was to evaluate the scientific literature demonstrating the effectiveness of Chuna manual therapy (CMT) in the treatment of spinal scoliosis. Methods : A literature search was conducted using eight electronic databases to identify all randomized controlled clinical trials (RCTs) that investigated CMT as a treatment for spinal scoliosis. The Cochrane risk of bias tool was used to assess the methodological quality of each RCT. Results : Five RCTs met our inclusion criteria and were included in the analysis. These studies demonstrated positive results of CMT with respect to the reduction of Cobb's angle, vertebral rotation angle score, bending test score, and efficacy rate compared with brace treatment. Positive results were also assured, in terms of the reduction of Cobb's angle, pulmonary function, and efficacy rate when comparing CMT combined with other therapy with brace treatment, gymnastic training, or traction therapy. Conclusions : This review has identified encouraging and limited evidence of CMT for the treatment of spinal scoliosis. However, to obtain stronger evidence, without the disadvantages of study design and quality, we recommend that treatment effectiveness of CMT for spinal scoliosis is investigated further using a well-designed RCT.

A Study of ChongMyungTang(CMT) and HyangbujaChongMyungTang(HCMT) on Dementia - Extract & Nano Powder Drug types (총명탕(聰明湯)과 향부자총명탕(香附子聰明湯)의 추출물, 나노분말 제형을 이용한 치매에 관한 연구)

  • Oh, Young-Jin;Kim, Bo-Kyung
    • Journal of Oriental Neuropsychiatry
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    • v.17 no.1
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    • pp.79-105
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    • 2006
  • Objective : This research aims to investigates the effects of CMT and HCMT on Dementia. and we also want to know the different effect of CMT, HCMT by drug types. Methods : The research is progressed by two types of experiment. one experiment is BV2 microglial cell line treated by LPS in vitro and another experiment is memory deficit mice induced by scopolamine in vivo. Results : The CMT and HCMT is effective in BV2 microglial cell line treated by LPS in vitro and in the serum of the memory deficit mice induced by scopolamine in vivo. But, there is no significant difference between CMT and HCMT extract&nano powder in experimental conclusion. Conclusions : These results suggest that the two drug types of CMT and HCMT may be effective for the prevention and treatment of Dementia. Investigation into the further study two drug types of the CMT and HCMT for Dementia is suggested for future research.

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Patterns on the Outbreaks of Bovine Mastitis and Susceptibility to Antimicrobias of Isolated Causative Agents in a Municipal Area

  • Jung, Hee-Kon
    • Journal of Environmental Health Sciences
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    • v.21 no.2
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    • pp.42-53
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    • 1995
  • 광주시 지역에서 사육하고 있는 젖소 1,614두중 유방염으로 의심되는 730분방 중에서 170분방을 검사분석하여 유방률, 균의 분리와 간이검사법과의 관계, 계절별 분리균의 분포, 항균 요법제에 대한 감수성 등을 검사하였다. 본 원인균은 730분방 중 134분방(18.4%)에서 분리되었으며 체세포 숫자는 평균 $1.620 imes 10^6pm 1.167 imes 10^6/ml$(C.V. 72.0%)이었다. CMT 반응치는 평균 $2.9pm 1.2$(C.V. 41.4%)이었으며 WT 반응치는 평균 $2.8pm 1.2$(C.V. 42.9%)이었다. RBVT와 CMT의 상관계수는 0.82(P<0.001)이었고 RBVT와 WT의 상관계수는 0.75 (P<0.001)이었으며 CMT와 WT의 상관계수는 0.93 (P<0.001)이었다. 체세포 숫자를 기준으로 하여 CMT 및 WT의 양성율을 비교하여 보면 원인균이 분리된 경우에는 체세포 숫자가 $0.49 imes 10^6$ 이하/ml의 경우에 반응치가 1+일때의 CMT는 72.4%, WT는 42.1%이었고 체세포 숫자가 $0.50 imes 10^6~1.00 imes 10^6/ml$의 경우에 반응치가 2+일 대의 CMT는 45.5%, WT는 48.8%이었으며, 체세포 숫자가 $3.01 imes 10^6$ 이상/ml의 경우에 반응치가 3+일 때의 CMT는 73.7%, WT는 92.3%이었다. 원인균의 월별 분리 빈도를 보면 8월 (17.9%)이 가장 높았고 다음은 9월(16.4%), 7월 (12.7%), 6월 (11.2%), 1월 (9.0%)의 순이었다. 원인균의 분리 빈도를 보면 Staphylococcus sp. (51.4%)가 가장 높았고 다음은 Escherichia coli(23.9%), Pseudomonas sp. (11.2%). Streptococcus sp. (6.7%)의 순이었다. 항균 요법제에 대한 감수성은 trimethoprim/sulfamethoxazole은 Streptococcus sp., Staphylococcus epidermidis, Proteus sp., Salmonella sp. 등에 높았고 gentamycin은 Streptococcus sp., Staphylococcus aureus, Enterobacteriaceae, Klebsiella sp., Proteus sp., Salmonella sp. 등에 높았으며 enrofloxacin은 일반적으로 거의 모든 균에서 감수성이 높았다.

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Diagnosis of Bovine Subclinical Mastitis by the Measurement of the N-acetyl-$\beta$-D-glucosaminidase Activity and Effect of Levamisole Treatment (N-acetyl-$\beta$-D-glucosaminidase 활성치에 의한 젖소의 준임상형유방염의 진단과 염산 Levamisole의 치료시험)

  • Kang Byong-Kyu;Yang Gun-Muug
    • Journal of Veterinary Clinics
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    • v.5 no.1
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    • pp.23-30
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    • 1988
  • A total of 127 foremilk samples from dairy farms in Chonnam district was examined for the subclinical mastitis eve. six months, using a method of the N-acetyl-${\beta}$ -D-glucosaminidase (NAGase) test in relation to the California mastitis test(CMT) and the somatic tell count(SCC) and the compatibility and efficiency rating between the NAGase test and the other screening test were conducted. Fifteen subclinically mastitic cows were treated with a single oral dose of 7.5mg/kg of levamisole hydrochloride. The results are summarized as follows. 1. A linear relationship was found among the NAGase level, the CMT score and the SCC level, and it was found that NAGase activity measurements were comparable with other screening tests for diagnosing cows with mastitis. 2. Compatibilites between the NAGase and the CMT were 96.1%, and that of the NAGase and SCC were 93.7%. On the other hand, relative efficiency ratings of Postle's equation between the NAGase and CMT were 89.4%, and that of the NAGase and SCC were 84.1%. 3. Considering the result of CMT, SCC and NAGase level after treatment with levamisole hydrochloride it seemed to be of special value in the treatment of bovine subclinical mastitis.

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Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel Sequencing

  • Nam, Soo Hyun;Hong, Young Bin;Hyun, Young Se;Nam, Da Eun;Kwak, Geon;Hwang, Sun Hee;Choi, Byung-Ok;Chung, Ki Wha
    • Molecules and Cells
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    • v.39 no.5
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    • pp.382-388
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    • 2016
  • Inherited peripheral neuropathies (IPN), which are a group of clinically and genetically heterogeneous peripheral nerve disorders including Charcot-Marie-Tooth disease (CMT), exhibit progressive degeneration of muscles in the extremities and loss of sensory function. Over 70 genes have been reported as genetic causatives and the number is still growing. We prepared a targeted gene panel for IPN diagnosis based on next generation sequencing (NGS). The gene panel was designed to detect mutations in 73 genes reported to be genetic causes of IPN or related peripheral neuropathies, and to detect duplication of the chromosome 17p12 region, the major genetic cause of CMT1A. We applied the gene panel to 115 samples from 63 non-CMT1A families, and isolated 15 pathogenic or likelypathogenic mutations in eight genes from 25 patients (17 families). Of them, eight mutations were unreported variants. Of particular interest, this study revealed several very rare mutations in the SPTLC2, DCTN1, and MARS genes. In addition, the effectiveness of the detection of CMT1A was confirmed by comparing five 17p12-nonduplicated controls and 15 CMT1A cases. In conclusion, we developed a gene panel for one step genetic diagnosis of IPN. It seems that its time- and cost-effectiveness are superior to previous tiered-genetic diagnosis algorithms, and it could be applied as a genetic diagnostic system for inherited peripheral neuropathies.

Effect of Chuna Manual Therapy for Peripheral Facial Paralysis in Children : A Systematic Review (소아 말초성 안면마비에 대한 추나요법의 효과 : 체계적 문헌고찰)

  • Kim, Eui-Byeol;Kang, Ki-Wan;Kim, Min-Woo;Ko, Youn-Seok
    • The Journal of Churna Manual Medicine for Spine and Nerves
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    • v.14 no.1
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    • pp.1-11
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    • 2019
  • Objectives : The purpose of this study is to review clinical studies about the effect of chuna manual therapy (CMT) for peripheral facial paralysis in children. Methods : In this review, we searched 11 electronic databases (Pubmed, Cochrane Library, EMBASE, CINAHL, CAJ, Oasis, NDSL, KISS, RISS, KISTI, Dbpia); We concluded our literature search in April 23, 2019. We included only randomized controlled trials (RCTs) of testing CMT for peripheral facial paralysis in children. The methodological quality of each RCT was assessed using the Cochrane risk of bias tool. The meta-analysis was performed by synthesizing outcome data of total efficacy rate (TER). Results : After screening papers, a total of 6 RCTs were selected and analyzed. In the 6 RCTs, patients(n=15-60 per study) were randomized into groups for treatment and control. Specifically, the treatment group received CMT, while the control group was concurrently given usual care, such as acupuncture and medicine. The meta-analysis showed that the treatment group receiving CMT alone showed significant improvement in TER, compared to the control group receiving acupuncture therapy alone(P<0.05). And the treatment group receiving CMT combined with usual care showed positive results, in terms of TER, compared to the control group receiving usual care, but was not statistically significant(P>0.05). Conclusions : Our analysis suggests that CMT has therapeutic effects for peripheral facial paralysis in children. However, to confirm this result, further investigation accompanied by high quality studies is required.

A Study on the Effects of Bovine Mastitis Control Using SCC, CMT and Pathogens (SCC, CMT와 세균검사에 의한 유방염의 지도효과 연구)

  • 최진영;황현순;손봉환;김순재
    • Korean Journal of Veterinary Service
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    • v.15 no.2
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    • pp.150-165
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    • 1992
  • The study for a effect of monitoring on bovine mastitis was conduced for a year from Dec, 1989 to Nov, 1990, Sampling the bulk milk of 350 herds in Inchon city and out of 10 herds among them were carried out herds guidance, CMT, SCC, isolation of pathogens and antibiotic sensitivity tests. The results obtained were summarized as follows 1. Annual mean SCC of 1213 herds was 558, 000 cell /ml 2. The number of SCC below 500, 000 cell /ml to quarters for herds guidance was at 1st 77. 0%, End 84.8% and 3rd 80.4%. The is shown that milk quality was steadly improved. 3. The most number of isolated pathogens of bovine mastitis was Staphylococcus SPP - 402(47.2%) Streptococcus SPP - 80(18.7% ) 4. The highest rate of antibiotic sensitivity test was Stapylococcus SPP - cephalothin(76.7%) Streptococcus SPP - ampicillin(77.5%) Gram negative bacilli - tetracyclin(76.0%) 5. The effect of monitoring on bovine mastitis was improved showing that at 1st 49.0% to 3rd 72.0%

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Development of cell models for high-throughput screening system of Charcot-Marie-Tooth disease type 1

  • Choi, Yu-Ri;Jung, Sung-Chul;Shin, Jinhee;Yoo, So Young;Lee, Ji-Su;Joo, Jaesoon;Lee, Jinho;Hong, Young Bin;Choi, Byung-Ok
    • Journal of Genetic Medicine
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    • v.12 no.1
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    • pp.25-30
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    • 2015
  • Purpose: Charcot-Marie-Tooth disease (CMT) is a peripheral neuropathy mainly divided into CMT type 1 (CMT1) and CMT2 according to the phenotype and genotype. Although molecular pathologies for each genetic causative have not been revealed in CMT2, the correlation between cell death and accumulation of misfolded proteins in the endoplasmic reticulum (ER) of Schwann cells is well documented in CMT1. Establishment of in vitro models of ER stress-mediated Schwann cell death might be useful in developing drug-screening systems for the treatment of CMT1. Materials and Methods: To develop high-throughput screening (HTS) systems for CMT1, we generated cell models using transient expression of mutant proteins and chemical induction. Results: Overexpression of wild type and mutant peripheral myelin protein 22 (PMP22) induced ER stress. Similar results were obtained from mutant myelin protein zero (MPZ) proteins. Protein localization revealed that expressed mutant PMP22 and MPZ proteins accumulated in the ER of Schwann cells. Overexpression of wild type and L16P mutant PMP22 also reduced cell viability, implying protein accumulation-mediated ER stress causes cell death. To develop more stable screening systems, we mimicked the ER stress-mediated cell death in Schwann cells using ER stress inducing chemicals. Thapsigargin treatment caused cell death via ER stress in a dose dependent manner, which was measured by expression of ER stress markers. Conclusion: We have developed genetically and chemically induced ER stress models using Schwann cells. Application of these models to HTS systems might facilitate the elucidation of molecular pathology and development of therapeutic options for CMT1.