• Investigative Magnetic Resonance Imaging
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• 제17권4호
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• pp.294-307
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• 2013

Purpose : To investigate the correlations between Seoul Neuropsychological Screening Battery (SNSB) scores and the gray matter volumes (GMV) in patients with Alzheimer's disease (AD) and mild cognitive impairment (MCI) and cognitively normal (CN) elderly subjects with correcting the genotypes. Materials and Methods: Total 75 subjects were enrolled with 25 subjects for each group. The apolipoprotein E (APOE) epsilon genotypes, SNSB scores, and the 3D T1-weighted images were obtained from all subjects. Correlations between SNSB scores and GMV were investigated with the multiple regression method for each subject group using both voxel-based and region-of-interest-based analyses with covariates of age, gender, and the genotype. Results: In the AD group, Rey Complex Figure Test (RCFT) delayed recall scores were positively correlated with GMV. In the MCI group, Seoul Verbal Learning Test (SVLT) scores were positively correlated with GMV. In the CN group, GMV negatively correlated with Boston Naming Test (K-BNT) scores and Mini-Mental State Examimation (K-MMSE) scores, but positively correlated with RCFT scores. Conclusion: When we used covariates of age, gender, and the genotype, we found statistically significant correlations between some SNSB scores and GMV at some brain regions. It may be necessary to further investigate a longitudinal study to understand the correlation.

• Journal of The Korean Society of Inherited Metabolic disease
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• 제18권2호
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• pp.62-67
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• 2018

Hunter syndrome, also known as mucopolysaccharidosis Type II (MPS II), is one of the lysosomal storage diseases caused by a lack of the enzyme iduronate 2-sulfatase (I2S). Lack of the I2S enzyme activity leads to accumulation of the glycosaminoglycans (GAG), causing dysfunction of multiple organs and systems. MPS II is an X-linked recessive disease due to mutation of IDS gene located on long arm of the X chromosome (Xq28). To date, more than 350 mutations of IDS gene have been identified in Hunter syndrome. Phenotypes of MPS II are classified as either severe or attenuated depending on the degree of cognitive impairment. Because the phenotype of MPS II is related to the type of mutation, identifying mutations is useful in predicting prognosis. We recently had a case of MPS II diagnosed by exome sequencing in a 7 month old boy with infantile spasm uncontrolled by AED. He was diagnosed with hearing loss at 2 months of age, and he took vigabatrin and prednisolone to control infantile spasms diagnosed at 3 months of age. At 6 months of age, whole exome sequencing was performed to evaluate the infantile spasm and hearing loss in this patient, and the mutation c.851C>T (p.Pro284Leu) inherited from hemizygous mother was revealed. The results of urine Cetylpyridinium Chloride (CPC) precipitation test, which were negative until 8 months of age, were positive from 9 months of age. We report a case of MPS II diagnosed by exome sequencing and treated through enzyme replacement therapy from 9 months after birth.

• Therapeutic Science for Rehabilitation
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• 제10권2호
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• pp.109-128
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• 2021

Objective : The purpose of this study was to develop a Korean version of the Activities of Daily Living (ADL)-focused Occupation-Based Neurobehavioral Evaluation (A-ONE) through cross-cultural adaptation and examine its validity and reliability. Methods : This study translated the A-ONE into Korean and performed cross-cultural adaptation for the Korean population. After the development of the Korean version of the A-ONE, cross-cultural and concurrent validities were analyzed. Internal consistency, test-retest reliability, and inter-rater reliability were also evaluated. Results : We adapted three items to the Korean culture. The Korean version of the A-ONE showed high cross-cultural validity with a content validity index (I-CVI) >0.9. It correlated with the Functional Independence Measure (FIM) (r=0.52-0.77, p<0.001), except for communication. Cronbach's α was 0.58-0.93 for the functional independence scale (FI) and 0.42-0.93 for the neurobehavioral specific impairment subscale (NBSIS). Intraclass correlation coefficients (ICCs) indicated high test-retest and inter-rater reliability for FI (ICC=0.79-1.00 and 0.75-1.00, respectively) and NBSIS (ICC=0.74-1.00 and 0.72-1.00, respectively). Conclusion : The Korean version of the A-ONE is well adapted to the Korean culture and has good validity and reliability. It is recommended to evaluate ADL performance skills and neurobehavioral impairments simultaneously in Korea.

• KIPS Transactions on Computer and Communication Systems
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• 제12권5호
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• pp.171-180
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• 2023

The three major sleep disorders in Korea are snoring, sleep apnea, and insomnia. Lack of sleep is the root of all diseases. Some of the most serious potential problems associated with sleep deprivation are cardiovascular problems, cognitive impairment, obesity, diabetes, colitis, prostate cancer, etc. To solve these problems, the Korean government provided low-cost national health insurance benefits for polysomnography tests in July 2018. However, insomnia patients still have problems getting treated in terms of time, space, and economic perspectives. Therefore, it would be better for insomnia patients to be allowed to test at home. The measuring device can measure six biosignals (eye movement, tossing and turning, body temperature, oxygen saturation, heart rate, and audio). A gyroscope sensor (MPU9250, InvenSense, USA) was used for eye movement, tossing, and turning. The input range of the sensor was in 258°/sec to 460°/sec, and the data range was in the input range. Body temperature, oxygen saturation range, and heart rate were measured by a sensor (MAX30102, Analog Devices, USA). The body temperature was measured in 30 ℃ to 45 ℃, and the oxygen saturation range was 0% for the unused state and 20 % to 90 % for the used state. The heart rate measurement range was in 40 bpm to 180 bpm. The measurement of audio signal was performed by an audio sensor (AMM2742-T-R, PUIaudio, USA). The was -42 dB ±1 dB frequency range was 20 Hz to 20 kHz. The measured data was successfully received in wireless network conditions. The system configuration was consisted of a PC and a mobile app for bio-signal measurement and data collection. The measured data was collected by mobile phones and desktops. The data collected can be used as preliminary data to determine the stage of sleep and perform the screening function for sleep induction and sleep disturbances. In the future, this convenient sleep measurement device could be beneficial for treating insomnia.