• Smart Media Journal
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• v.12 no.3
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• pp.19-29
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• 2023

The eye tracking technology is widespread all around the society, and is demonstrating great performances in both preciseness and convenience. Hereby we can glimpse new possibility of an interface's conduct without screen-touching. This technology can become a new way of conversation for those including but not limited to the patients suffering from Lou Gehrig's disease, who are paralyzed each part by part of the body and finally cannot help but only moving eyes. Formerly in that case, the patients were given nothing to do but waiting for the death, even being unable to communicate with there families. A new interface that harnesses eyes as a new means of communication, although it conveys great difficulty, can be helpful for them. There surely are some eye tracking systems and equipment for their exclusive uses on the market. Notwithstanding, several obstacles including the complexity of operation and their high prices of over 12 million won($9,300) are hindering universal supply to people and coverage for the patients. Therefore, this paper suggests wearable-type eye tracking device that can support minorities and vulnerable people and be occupied inexpensively and study eye tracking method in order to maximize the possibility of future development across the world, finally proposing the way of designing and developing a brought-down costed eye tracking system based on high-efficient wearable device.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.43-49
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• 2018

Maple syrup urine disease (MSUD, OMIM#248600) is a rare and autosomal recessively-inherited metabolic disorder that is caused by mutations in the branched-chain ${\alpha}$-ketoacid dehydrogenase (BCKDH) genes. It prevents the normal breakdown of branched-chain amino acids (BCAAs), such as leucine, isoleucine, and valine, and leads to poor feeding, lethargy, abnormal movements, seizure, and death if untreated. Here, we report the case of a Korean newborn of biochemically- and genetically-confirmed MSUD manifesting lethargy and central apnea, the acute state of which was successfully treated. The molecular genetic investigation revealed two novel heterozygous mutations (p.Ala32Phefs*48 and p.Val 130Phe) in BCKDHB, and both parents were confirmed as carriers. We emphasize the importance of early diagnosis and prompt introduction of specific treatment for MSUD in life saving and prognosis.

• Investigative Magnetic Resonance Imaging
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• v.8 no.2
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• pp.79-85
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• 2004

Purpose : To evaluate the usefulness and reproducibility of $^1H$ MRS in different 1.5 T MR machines with different coils to compare the SNR, scan time and the spectral patterns in different brain regions in normal volunteers. Materials and Methods : Localized $^1H$ MR spectroscopy ($^1H$ MRS) was performed in a total of 10 normal volunteers (age; 20-45 years) with spectral parameters adjusted by the autoprescan routine (PROBE package). In all volunteers, MRS was performed in a three times using conventional MRS (Signa Horizon) with 1 channel coil and upgraded MRS (Echospeed plus with EXCITE) with both 1 channel and 8 channel coil. Using these three different machines and coils, SNRs of the spectra in both phantom and volunteers and (pre)scan time of MRS were compared. Two regions of the human brain (basal ganglia and deep white matter) were examined and relative metabolite ratios (NAA/Cr, Cho/Cr, and mI/Cr ratios) were measured in all volunteers. For all spectra, a STEAM localization sequence with three-pulse CHESS $H_2O$ suppression was used, with the following acquisition parameters: TR=3.0/2.0 sec, TE=30 msec, TM=13.7 msec, SW=2500 Hz, SI=2048 pts, AVG : 64/128, and NEX=2/8 (Signa/Echospeed). Results : The SNR was about over $30\%$ higher in Echospeed machine and time for prescan and scan was almost same in different machines and coils. Reliable spectra were obtained on both MRS systems and there were no significant differences in spectral patterns and relative metabolite ratios in two brain regions (p>0.05). Conclusion : Both conventional and new MRI systems are highly reliable and reproducible for $^1H$ MR spectroscopic examinations in human brains and there are no significant differences in applications for $^1H$ MRS between two different MRI systems.

• Journal of Genetic Medicine
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• v.5 no.1
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• pp.26-33
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• 2008

Purpose : Phenylketonuria(PKU) is an inborn error of metabolism and a genetic disorder resulting from a deficiency of phenylalanine hydroxylase(PAH) and decreased activity of tetrahydrobiopterin(BH4).In this study the correlation between the DNA mutation and clinical manifestations was investigated and PAH DNA mutations were compared bewteen Asian and Caucasian populations. Methods : DNA was isolated from peripheral leukocytes. The PAH gene was amplified by Polymerase Chain Reaction(PCR) and the sequence was analyzed with Multiplex Ligation-dependent Probe Amplification(MLPA). Results : We characterized the PAH gene of 102 independent Korean patients with PKU. PAH nucleotide sequence analysis revealed 44 different mutations, including 10 novel mutations comprising 9 missense mutations(N207D, K95del, A447P, G344D, P69S, S391I, A202T, G103S, and I306L) and 1 novel splice-site variant mutation(IVS10-3C>G). R243Q was the most prevalent mutation in this study. A259T has not previously been reported in Asian populations, but we found that this mutation had a frequency of 10.1% in our study. Furthermore, the genotypes of $BH_4$ responsive patients were analyzed and were divided into two groups: $BH_4$ medication-only group and $BH_4$ medication with diet therapy group. In the $BH_4$ medication-only group and $BH_4$ medication with diet therapy group, R241C was the most common mutation. Conclusion : Novel mutations in the PAH gene of PKU patients are still being discovered. Additional information as to the frequency of mutations in the tetrahydrobiopterine responsive gene is also accumulating. We anticipate that knowledge of these PKU gene mutations will assist the diagnosis, genetic counseling, and therapeutic treatment of PKU patients in future.

• Clinical and Experimental Pediatrics
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• v.45 no.9
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• pp.1097-1105
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• 2002

Purpose : This study was conducted to estabilish the prevalence, clinical features and relationship between ECG findings and echocardiographic findings of Wolff-Parkinsion-White(WPW) syndrome in asymptomatic preschool children. Methods : An electrocardiographic screening study was performed on 77,824 preschool children in Jeonbuk province from April, 1999 to August, 2001. Patients with WPW syndrome underwent echocardiographic study. Results : Twenty three patients with WPW syndrome were discovered by electrocardiographic screening of preschool children. The prevalence rate was 2.9 per 10,000 preschool children and there was no significant sexual difference. Two patients had a history of symptoms related to tachyarrythmia. According to the ECG classification of Rosenbaum et al., five patients were type A and 18 were type B. Utilizing the criteria of Gallagher et al, right anterior, 12 patients; right anteiror paraseptal, four patients; left anteiror, three patients. Nineteen of 23 patients underwent echocardiographic study. Four of five patients with type A WPW syndrome had abnormal early systolic anterior motion of left ventricular posterior wall. Twelve of 14 patients with type B had abnormal interventricular septal motion characterized by early sytolic posterior motion immediately after inscription of the delta wave. Conclusion : The prevalence rate of preschool children in Jeonbuk province was 2.9/10,000. By the classification according to the electrocardiographic findings, the accessory pathway location was dominant right side than left side. In the echocardiographic study, type A WPW syndrome showed abnormal left ventricular posterior wall motion and type B WPW showed abnormal interventricular septal motion.

• Pediatric Infection and Vaccine
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• v.16 no.2
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• pp.191-198
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• 2009

Purpose : Breastfeeding should be recommended for infants born to mothers with chronic hepatitis B Infection after postexposure prophylaxis. However, high proportion of these mothers are reluctant to engage in breastfeeding in Korea. This survey was taken to identify the cause of that reluctance. Method : Questionnaires were given to mothers with chronic hepatitis B infection who were registered at the 'Hepatitis B Perinatal Transmission Prevention Program' operated by Korea Center for Disease Control and Prevention. They visited a community health center for blood sample collection and signed a consent paper. The questionnaires were sent to the mothers. Result : Among 839 mailed questionnaires, 114 were returned marked 'address unknown'. The overall reply rate was 17% (n=125). Among responders, 52% (n=62) were breastfeeding and 48% (n=60) were formula-feeding. The most influential factor for breastfeeding was the mother's own decision (75%) and the obstetrician's recommendation (17%). For formulafeeding mothers, their decisions were influenced by obstetricians (57%), and by their own thinking (28%). The relationship between breastfeeding and perinatal prophylaxis failure was recognized as 45% 'related' and 50% 'not-related'. A total of 91% of breastfeeding mothers replied that they will breast-feed again. Among formula-feeding mothers, 78% answered that they will breast-feed if they were known that 'there is no direct relationship between breastfeeding and perinatal prophylaxis failure'. Conclusion : Despite the fact that there is no direct relationship between breastfeeding and perinatal prophylaxis failure, many were reluctant to breast-feed. Healthcare professionals have influence over the mothers for decision making. It will be necessary to educate healthcare personnel so that they can make a conceptual change as well as to promote the fact to the general public.

• Sleep Medicine and Psychophysiology
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• v.26 no.1
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• pp.23-32
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• 2019

Objectives: Insomnia is not only the most common sleep-related disorder, but also is one of the most important. Knowledge of the comorbidities of insomnia is essential for proper treatment including pharmacological and non-pharmacological methods to prevent disease chronification. This study aimed to determine sleep clinic patients' knowledge of insomnia. Methods: This study recruited 44 patients (24 males and 20 females; mean age $54.11{\pm}16.30years$) from the sleep clinic at National Center for Mental Health. All subjects were asked to complete a self-report questionnaire about their reasons for visiting a sleep clinic and about their knowledge of treatment and comorbidities of insomnia. Results: The reasons for visiting the sleep clinic were insomnia symptoms of daytime sleepiness, irregular sleeping time, nightmares, snoring, and sleep apnea, in that order. Of the responders, 72.7% had a comorbidity of insomnia, and 22.7% showed high-risk alcohol use. In addition, 70.5% of responders chose pharmacological treatment of insomnia as the first option and reported collection of information about treatment of insomnia mainly from the internet and medical staff. More than half (52.3%) of the respondents reported that they had never heard about non-pharmacological treatments of insomnia such as cognitive behavioral treatment (CBT-I) or light therapy. The response rate about comorbidities of varied, with 75% of responders reporting knowledge of the relation between insomnia and depression, but only 38.6% stating awareness of the relation between insomnia and alcohol use disorder. Of the total responders, 68.2% were worried about hypnotics for insomnia treatment, and 70% were concerned about drug dependence. Conclusion: This study showed that patients at a sleep clinic had limited knowledge about insomnia. It is necessary to develop standardized insomnia treatment guidelines and educational handbooks for those suffering from insomnia. In addition, evaluation of alcohol use disorders is essential in the initial assessment of sleep disorders.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.8 no.1
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• pp.92-100
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• 1997

Objective：The objective of this study is to examine the clinical characteristics and behavioral comorbidity of patients with Tourette’s disorder. Method：Subjects consisted of 157 patients with Tourette’ disorder diagnosed by DSM-IIIR, who were examined and diagnosed from Jan. 1988 to May 1994 at the Tourette’s Clinic of Yonsei University Medical Center. Characteristics and behavioral comorbidity of Patients were assessed by a semi-structured interview schedule. Behavioral problems like hyperactivity, obsession-compulsion, self destructiveness, enuresis, sleep problem were assessed by global clinical impression. Results：The mean age of patients was 14.49(${\pm}7.99$) years. Patients consisted of 138 males (87.9%) and 19 females(12.1%). The sex ratio was 7：1, showing a male preponderance. The number of right-handers was 133(84.7%), and the number of non-right handers was 24(15.3%). Mean age of onset was 8.85(${\pm}4.56$) years, ranging from 2-to-16 years. More than half of the patients had their age of onset at 6-10 years. Bimodal peak in age of onset was observed；the first peak was around 6 and the second peak was around 10 years. There was no sex difference in bimodal age of onset. The most common initial symptom was eye blinking. More than 55% of patients reported eye blinking as their first symptom. The second common initial symptom was head turning and the third was vocal tic. The most common symptoms that patients reported on their first visit since onset were eye blinking(82.2%), head turning or nodding(57.9%), shoulder shrugging(52.7%) and forearm movement(32.6%). Of 157 cases, 101(64.3%) patients showed downward progression of symptoms, and 25(15.9%) showed upward progression of symptoms. Nineteen fathers(12%) of patients had a past history of obsessive-compulsive disorder(OCD). Seventeen fathers(10.6%) had a history of tic disorder. SSevenmothers(4.5%) had OCD, 4 mothers (2.5%) had tic disorder. One hundred and eighteen patients(75.1%) had comorbid hyperactivity, 95 patients(60.5%) had obsession, 55 patiens(35.0%) had self destructiveness, 46 patients(29.3%) had impulsivity, and 35 patients(22.3%) had enuresis. Age of onset had a significant positive correlation with age, duration, and the global severity of obsession；and a negative correlation with the severity of hyperactivity. Hyperactivity had a significant positive correlation with impulsivity, obsession-compulsion, enuresis, and self destructiveness. Obsession-compulsion had a significant positive correlation with hyperactivity, sleep problems, and self destructiveness. Conclusion：These data suggest that clinical characteristcs and behavioral comorbidity of patients with Tourette’ disorder in this study are similar to previous research findings in Korea and other contries. The younger the age of onset was, the more severe hyperactivity was, and the less severe obsession-compulsion was. And severity of hyperactivity had a positive correlation with the severity of obsession-compulsion, impulsivity, enuresis, and self destructiveness.