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채종희,Chae, Jong Hee 대한소아청소년과학회 2008 Clinical and Experimental Pediatrics (CEP) Vol.51 No.12
Inherited muscle diseases are heterogeneous with varying genetic etiologies and present with common symptoms and signs, including weakness, motor developmental delay, and hypotonia. To diagnose these various diseases, a meticulous family and clinical history, physical and neurological examinations, laboratory findings with electromyography, muscle biopsy, and genetic testing are needed. Here, I review several inherited muscle diseases, with a focus on muscular dystrophy in children and its genetics and general management.
채종희(Jong Hee Chae) 대한소아신경학회 2008 대한소아신경학회지 Vol.16 No.1
Floppy infant syndrome is a disease in which infants present with generalized hypotonia at birth or early infancy. There are many possible etiologies, which make a specific diagnosis difficult. The expanding knowledge of genetic disorders has made noninvasive genetic testing available for specific diagnoses. Therefore, it is very important for clinicians to use a systematic approach for the investigation of such children. In this chapter, I review the many possible etiologies of the floppy infant syndrome, and a systematic approach for the evaluation of this disorder will be proposed.
이승준,채종희,이정애,조성임,서수현,박현웅,성문우,박성섭 대한진단검사의학회 2015 Annals of Laboratory Medicine Vol.35 No.1
CHARGE syndrome MIM #214800 is an autosomal dominant syndrome involving multiple congenital malformations. Clinical symptoms include coloboma, heart defects, choanal atresia, retardation of growth or development, genital hypoplasia, and ear anomalies or deafness. Mutations in the chromodomain helicase DNA binding protein 7 (CHD7) gene have been found in 65-70% of CHARGE syndrome patients. Here, we describe a 16-month-old boy with typical CHARGE syndrome, who was referred for CHD7 gene analysis. Sequence analysis and multiplex ligation-dependent probe amplification were performed. A heterozygous 38,304-bp deletion encompassing exon 3 with a 4-bp insertion was identified. There were no Alu sequences adjacent to the breakpoints, and no sequence microhomology was observed at the junction. Therefore, this large deletion may have been mediated by non-homologous end joining. The mechanism of the deletion in the current case differs from the previously suggested mechanisms underlying large deletions or complex genomic rearrangements in the CHD7 gene, and this is the first report of CHD7 deletion by this mechanism worldwide.
송민정,채종희,박은애,기창석 대한의학회 2010 Journal of Korean medical science Vol.25 No.10
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder characterized by highly variable abnormalities of the skin, eyes and central nervous system. A mutation of the nuclear factor-κB essential modulator (NEMO) located at Xq28 is believed to play a role in pathogenesis and the mutation occurs mostly in female patients due to fatal consequence of the mutation in males in utero. This study was designed to identify the common NEMO rearrangement in four Korean patients with IP. Deletion of exons 4 to 10 in the NEMO, the most common mutation in IP patients, was detected in all of the patients by the use of long-range PCR analysis. This method enabled us to discriminate between NEMO and pseudogene rearrangements. Furthermore, all of the patients showed skewed XCI patterns,indicating pathogenicity of IP was due to cells carrying the mutant X chromosome. This is the first report of genetically confirmed cases of IP in Korea.
The Correlation Analysis of Functional Factors and Age with Duchenne Muscular Dystrophy
정일영,방문석,채종희,Sue Kyung Park,Je Ho Kim,김정윤,Sang Joon Kim 대한재활의학회 2012 Annals of Rehabilitation Medicine Vol.36 No.1
Objective To correlate existing evaluation tools with clinical information on Duchenne muscular dystrophy (DMD)patients following age and to investigate genetic mutation and its relationship with clinical function. Method Th e medical records of 121 children with DMD who had visited the pediatric rehabilitation clinic from 2006 to 2009 were reviewed. Th e mean patient age was 9.9±3.4 years and all subjects were male. Collected data included Brooke scale, Vignos scale, bilateral shoulder abductor and knee extensor muscles power, passive range of motion (PROM) of ankle dorsi-flexion, angle of scoliosis, peak cough flow (PCF), fractional shortening (FS),genetic abnormalities, and use of steroid. Results The Brooke and Vignos scales were linearly increased with age (Brooke (y1), Vignos (y2), age (x),y1=0.345x-1.221, RBrooke 2=0.435, y2=0.813x-3.079, RVignos 2=0.558, p<0.001). In relation to the PROM of ankle dorsifl exion, there was a linear decrease in both ankles (right and left R2=0.364, 0.372, p<0.001). Muscle power, Cobb angle, PCF, and FS showed diversity in their degrees, irrespective of age. Th e genetic test for dystrophin identifi ed exon deletions in 58.0% (69/119), duplications in 9.2% (11/119), and no deletions or duplications in 32.8% (39/119). Statistically, the genetic abnormalities and use of steroid were not defi nitely associated with functional scale. Conclusion The Brooke scale, Vignos scale and PROM of ankle dorsi-flexion were partially available to assess DMD patients. However, this study demonstrates the limitations of preexisting scales and clinical parameters incomprehensively refl ecting functional changes of DMD patients.