• 한국산학기술학회논문지
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• 제11권9호
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• pp.3390-3397
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• 2010

본 연구의 목적은 지역사회 아동을 대상으로 발달지연 선별검사 중 부모-보고형 검사인 Korean-Ages and Stages Questionnaires(K-ASQ)의 타당도와 효용성을 알아보고자 하였다. 연구방법에서 연구대상은 선별검사에 동의한 229명 아동의 부모들과 유전적 질환 혹은 선천적 발달 지연이 보고되지 않은 3~5세 아동들이었다. 연구결과 K-ASQ는 민감도 0.41%, 특이도 0.76%, 과다의뢰율 0.14%, 과소의뢰율 0.21%이였으며, 지연발달과 정상발달 예측율은 지연 발달에서는 K-ASQ 0.70%, 정상발달 예측율은 K-ASQ 0.77%로 나타났다. K-ASQ의 타당도는 정상아동을 정상으로 선별하는 특이도가 민감도보다 높았으며, 지연발달과 정상발달 예측율에서도 K-ASQ는 70% 이상으로 임상에서 아동발달 선별에 유용하게 사용될 수 있을 것이다.

• Clinical and Experimental Pediatrics
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• 제55권12호
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• pp.487-490
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• 2012

We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.

• Journal of Genetic Medicine
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• 제18권2호
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• pp.127-131
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• 2021

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is caused by loss-of-function mutations in SNX14. To date, all cases with homozygous pathogenic variants have been identified in consanguineous families. This report describes the first Korean cases of SCAR20 family caused by homozygous variants in SNX14. Two siblings were referred to our clinic because of severe global developmental delay. They presented similar facial features, including a high forehead, long philtrum, thick lips, telecanthus, depressed nasal bridge, and broad base of the nose. Because the older sibling was unable to walk and newly developed ataxia, repeated brain magnetic resonance imaging (MRI) was performed at the age of 4 years, revealing progressive cerebellar atrophy compared with MRI performed at the age of 2 years. The younger sibling's MRI revealed a normal cerebellum at the age of 2 years. Whole-exome sequencing was performed, and homozygous variants, such as c.2746-2A>G, were identified in SNX14 from the older sibling. Sanger sequencing confirmed homozygous SNX14 variants in the two siblings as well as a heterozygous variant in both parents. This report extends our knowledge of the phenotypic and mutational spectrum of SCAR20. We also highlight the importance of deep phenotyping for the diagnosis of SCAR20 in individuals with developmental delay, ataxia, cerebellar atrophy, and distinct facial features.

• Anatomy and Cell Biology
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• 제57권2호
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• pp.288-293
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• 2024

The temporal fascia is a double lamina sandwiching a thick fat layer above the zygomatic bony arch. To characterize each lamina, their developmental processes were examined in fetuses. We observed histological sections from 22 half-heads of 10 mid-term fetuses at 14-18 weeks (crown-rump length, 95-150 mm) and 12 near-term fetuses at 26-40 weeks (crown-rump length, 215-334 mm). The superficial lamina of the temporal fascia was not evident at mid-term. Instead, a loose subcutaneous tissue was attached to the thin, deep lamina of the temporal fascia covering the temporalis muscle. At near-term, the deep lamina became thick, while the superficial lamina appeared and exhibited several variations: i) a mono-layered thick membrane (5 specimens); ii) a multi-layered membranous structure (6) and; iii) a cluster of independent thick fasciae each of which were separated by fatty tissues (1). In the second and third patterns, fatty tissue between the two laminae was likely to contain longitudinal fibrous bands in parallel with the deep lamina. Varying proportions of the multi-layered superficial lamina were not attached to the zygomatic arch, but extended below the bony arch. Whether or not lobulation or septation of fatty tissues was evident was not dependent on age. The deep lamina seemed to develop from the temporalis muscle depending on the muscle contraction. In contrast, the superficial lamina developed from subcutaneous collagenous bundles continuous to the cheek. Therein, a difference in development was clearly seen between two categories of the fasciae.

• 대한장애인치과학회지
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• 제5권2호
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• pp.87-91
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• 2009

The purpose of this study were to investigate the chief complain and dental treatment needs in handicapped patient. This study examines treatment records of 1025 patients in free dental clinic for handicapped patients during 10 years from 1999 to 2008. The results were as follows : 5.8 average visit per patient; mean patient age was 25; 544 patients was younger than 20. Handicapped patients classified according to types of disability. Crippled disorder were 19.1%, brain disorder were 4.5%, visual disorder were 3.1%, auditory disorder were 4.1%, speech disorder were 0.9%, mental retardation were 67.1%, and developmental disorder were 25.1%. Performed treatments were 322 scaling, 13 fluoride varnish, 727 preventive resin restoration, 1296 resin restoration, 600 amalgam restoration, 46 GI restoration, 612 extraction, 289 pulp treatment of primary teeth, 75 pulp treatment of permanent teeth and 138 stainless steel crown restoration. Many handicapped patients have some difficulty to dental treatment. They have limited access to dental care, which is compounded by a shortage of skilled dental professionals who are willing to treat these population and financial problems.

• Clinical and Experimental Reproductive Medicine
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• 제16권1호
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• pp.9-14
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• 1989

For the cryopreservation of human embryos this study was accomplished as a preliminary experiment. The purpose of this study is to obtain optimal cryoprotectant, addition and dilution method of cryoprotectant and cooling rate for raising survival of frozon and thawed 2-cell mouse embryos. Seeding was done at $-7^{\circ}C$ and the straw contained embryos was plunged at $-30^{\circ}C$ when the slow cooling was ended. Embryos those developed normally to blastocyst after in vitro culture for over 96 hours were regarded as survival ones. The survival was the rate of number of survival embryos against the recovered embryos. The results are followed : 1. The survivals were 6.3, 71.2 and 67.4% respectively, when Glycerol, DMSO and 1,2-Propanediol were used as cryoprotectant. 2. When sucrose was added in freezing solution, the survival was 69.0%. That was higher than the survival of embryos frozen without sucrose in freezing solution. The difference was not significant. 3. Addition and dilution of cryoprotectant by 4 stepwise raised the survival than by direct, but that was not significant. 4. When embryos were frozen by -0.3, -0.5 and $-1^{\circ}C/min$ before plunged into $LN_2$, the survivals were 67.9, 78.0 and 37.0% respectively. The differnce was significant.

• 동의생리병리학회지
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• 제26권5호
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• pp.753-759
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• 2012

The purpose of this study was to examine Enneagram personality types and job satisfaction of Korean medicine clinic staff, thereby providing basic materials for job training programs and human resource management programs for Korean medicine clinic staff with a lot of face-to-face relationship. The researcher visited 50 Korean medicine clinics randomly selected from 255 clinics in Changwon and explained the purpose of this study and the content of questionnaire. Questionnaires on Enneagram personality types and job satisfaction were distributed to and collected from those who consented to participate. Data analysis was done using SPSS WIN IBM 20.0 program. The results are as follows. General characteristics of the subjects were as follows. Female respondents comprised 97.6% of the total. The rate of those whose age was between 20 and 25, between 26 and 30, between 31 and 35, between 36 and 40, between 41 and 45, and 46 years old or older was 22.6%, 21.4%, 13.1%, 21.4%, 17.9%, and 3.6%, respectively. The rate of those who were unmarried was 46.4%. As for educational levels, those who graduated from high school or received lower level education, those who graduated from two-year college, and those who graduated from university accounted for 46.4%, 39.3%, and 14.3%, respectively. Regarding the distribution of the center of energy, 64.3% was in the instinctive center, 20.3% in the thinking center, and 15.5% in the emotional center. As for the personality type of Enneagram, 25.0% belonged to type 8, 22.6% to type 9, 15.5% to type 1, 9.5% to type 5, 8.3% to types 4 and 6, 6% to type 2, and 2.4% to types 3 and 7. Job satisfaction according to the center of energy and personality types was not statistically significantly different. Interpersonal relationship, autonomy, and overall job satisfaction according to the developmental stage of Enneagram were significantly different.

• Clinical and Experimental Reproductive Medicine
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• 제37권1호
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• pp.57-64
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• 2010

목 적: 배양 환경과 동결 기술이 발달함에 따라 동결 포배의 해동-이식의 빈도가 증가하고 있으며, 신선 주기와 마찬가지로 해동-이식 주기에서도 질 좋은 배아를 선별하는 것은 임신 성공 여부를 결정하는 아주 중요한 과제이다. 본 연구는 동결 당시 포배로의 발달 속도가 임신 결과에 미치는 영향을 알아보기 위하여, 수정 후 5일 및 6일째 동결한 포배의 해동-이식 후 임신율을 비교 분석하였다. 연구방법: 2006년 1월부터 12월까지 5일째 또는 6일째 동결한 포배를 해동하여 2007년 6월까지 융해 이식한 87명, 93주기를 대상으로 하였다. 동결법은 ethylene glycol과 DMSO를 이용한 유리화 동결법을 이용하였으며, 팽창 포배는 인위적인 수축을 시행 후 동결하였다. 해동 과정은 이식 전날 시행하여 15~18시간 배양액에서 배양 후 재팽창 여부를 확인하였다. 결 과: 5일째 동결한 포배를 해동-이식한 52주기와 6일째 동결한 포배를 해동-이식한 41주기에서 환자의 나이, 이식한 배아의 수, 해동 배아의 생존율 등 임신 결과에 영향을 미칠만한 요인들의 차이는 없었다. 그러나 생화학적 임신율, 임상적 임신율, 진행 임신율, 착상율 등은 5일째 동결한 포배를 해동-이식한 주기에서 높게 나타났다. 결 론: 5일째 동결한 포배를 해동-이식했을 때의 임신율은 6일째 동결한 포배를 해동-이식했을 때의 임신율보다 2배 이상 높았으며, 이는 신선 주기와 마찬가지로 해동-이식 주기에서도 동결 전 배아의 발달 속도의 차이를 임신 성공 예측의 중요한 지표로 사용할 수 있음을 시사한다.

• 수면정신생리
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• 제2권2호
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• pp.115-128
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• 1995

Present study reviewed various standardized neuropsychological assessment methods for children that are widely used in Korean child-psychiatric clinic settings to evaluate neurological problems, especially soft neurological signs that could not be identified by neurological techniques like CT, MRI. The characteristics of those neuropsychological test responses in children with psychiatric disorders that neurological factors are thought to play more important role than psychological factors in their etiology were examined. It is more important and required to establish the developmental norms for interpreting the results of neuropsychological tests and for identifying the signs of brain damage in case of children than adults. There are many difficulties in diagnosing brain dysfunction and conducting research for neurological problems in psychiatric disordered children due to lack of the standardized Korean version of neuropsyhological test for children, Therefore, several issues on developing the Korean version of neuropsyhological tests for children were discussed.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.97-101
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• 2020

The combination of central nervous system abnormalities and renal impairment is a notable characteristic of Galloway-Mowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. Many subtypes exist having various phenotypes and genotypes, and many genetic causes are still being identified. An 18-month-old boy first visited our clinic for seizure, delayed development, and microcephaly. During follow-up visits he developed proteinuria and nephrotic syndrome at the age of 6. Nephrotic syndrome became refractory to treatment. These phenotypes were suggestive of GAMOS. Next generation sequencing was performed for genetic analysis and revealed novel compound heterozygous variants in the WDR4 gene: c.494G>A (p.Arg165Gln) and c.540C>G (p.Ile180Met). This is the first case in Korea of GAMOS involving the WDR4 gene.