• Clinical and Experimental Pediatrics
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• v.61 no.12
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• pp.403-406
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• 2018

Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.

• KIPS Transactions on Software and Data Engineering
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• v.12 no.8
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• pp.371-380
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• 2023

Relation extraction is to extract relationships between named entities from text. Traditionally, relation extraction methods only extract relations between predetermined subject and object entities. However, in end-to-end relation extraction, all possible relations must be extracted by considering the positions of the subject and object for each pair of entities, and so this method uses time and resources inefficiently. To alleviate this problem, this paper proposes a method that sets directions based on the positions of the subject and object, and extracts relations according to the directions. The proposed method utilizes existing relation extraction data to generate direction labels indicating the direction in which the subject points to the object in the sentence, adds entity position tokens and entity type to sentences to predict the directions using a pre-trained language model (KLUE-RoBERTa-base, RoBERTa-base), and generates representations of subject and object entities through probabilistic crossover operation. Then, we make use of these representations to extract relations. Experimental results show that the proposed model performs about 3 ~ 4%p better than a method for predicting integrated labels. In addition, when learning Korean and English data using the proposed model, the performance was 1.7%p higher in English than in Korean due to the number of data and language disorder and the values of the parameters that produce the best performance were different. By excluding the number of directional cases, the proposed model can reduce the waste of resources in end-to-end relation extraction.

• Phonetics and Speech Sciences
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• v.16 no.3
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• pp.59-69
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• 2024

Among the subgroups of speech sound disorder (SSD), the motor speech disorder (MSD) group is characterized by weak articulatory force. This study quantitatively measured and compared articulatory muscle strength between SSD and typically developing (TD) children. The Iowa Oral Performance Instrument (IOPI) was used to measure lip and tongue strength in 15 children with SSD and 15 TD children. We additionally measured peak lip and tongue pressure and endurance, and analyzed the correlation between each strength measure and the percentage of consonants correct (PCC). The findings were as follows: First, lip strength for the bilabial sounds did not differ between the two groups in the initial position but was significantly weaker in the SSD group in the final position. Tongue strength for alveolar sounds was weaker in the SSD group than in the TD group for the initial and final positions. Second, for lip and tongue strength, the difference in voicing features was significant in the TD group but not in the SSD group. Third, the peak pressure and endurance of the lips and tongue were significantly lower in the SSD group than in the TD group. Fourth, significantly higher static correlations were observed between most strength measures and the PCC. These findings suggest that weakness in articulatory motor execution may be an unrecognized underlying problem of SSD with unknown origin.

• Journal of the korean academy of Pediatric Dentistry
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• v.25 no.4
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• pp.837-842
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• 1998

Rett syndrome is a progressive neurological disorder that occurs exclusively in females. The syndrome is characterized by regression of language, motor development, and stereotypic hand movement. Autistic behavior, breathing irregularities, gait dyspraxia, scoliosis, and seizure are also accompanied. The cause of Rett syndrome is unknown, however, it is believed that the X-chromosome might playa significant role in the development of the syndrome. Patients with this syndrome have unusual oral and/or digital habits such as abnormal chewing pattern, bruxism, hypersalivation, micrognathia, high vaulted palate, tongue protrusion with lower posture of tongue, hand biting, digit-hand sucking. Dentists who are aware of distinct manifestations of Rett syndrome will be able to aid in early diagnosis and treatment of the syndrome. Prior to dental treatment for a patient with the Rett syndrome under sedation or general anesthesia, one should assess the degree of hypersalivation, apnea, severity of autism, expected life span. Early recognition of the syndrome and also dental treatment with established strict preventive guidelines for patients with the Rett syndrome may obviate the necessity of sedation or general anesthesia. Two cases with the Rett syndome were reported. Both patients had most of the above mentioned typical manifestations of the syndrome. Dental treatment for the case 1(8-year-old) including caries control, stainless steel crown, sealant application was performed under general anesthesia. The case 2 could not be undergone the dental treatment due to poor general conditions.

• The Journal of the Korea Contents Association
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• v.11 no.9
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• pp.407-413
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• 2011

Distinguishing aphasia in stroke patients and observing the subtle linguistic characteristics associated with it primarily requires the use of instruments that provide reliable assessment results. Additionally, examiners should be fully aware of how to use those instruments. This study examined 46 stroke patients for aphasia and assessed the reliability of their diagnoses according to examiners whose medical fields were different from each other. Furthermore, a comparison was made between the reliability before training and that after training. To this end, 46 stroke patients were tested for aphasia and in terms of their speech disorder degree by 3 groups, each of which consisted of 12 professionals (3 SLP, 3 neurologist, and 3 nurse). In the result, a rating of 'acceptable' was given for speech intelligibility tasks and the voice quality of /ah-/ prolongation, and other sub-tests were marked as 'good-excellent' by the experts with different areas of medical expertise. For the tasks marked as 'acceptable', the subjects were video-trained for 3 weeks and the differences were compared before and after their training. Consequently, the differences in the examiners' ratings in the speech intelligibility tasks showed a significant decrease and the accuracy of their voice quality ratings showed a significant increase. In the result of research on the correlation between the accuracy of the sub-test ratings and the amount of clinic experience, speech therapists developed more accuracy in rating a picture description task and a speech intelligibility task as their experience accumulated. Meanwhile, doctors and nurses showed more accurate ratings in picture description tasks with greater clinical experience. The results of this study suggest that assessing the neurologic-communicative disorders of stroke patients requires ongoing training and experience, especially for speech disorders. It was also found that the rating reliability in this case could be improved by training.

• The Journal of the Convergence on Culture Technology
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• v.6 no.2
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• pp.561-566
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• 2020

We propose to design and to implement a recreational and end - of - play robot for symptom relief in patients with depression. The main symptom of depression is the loss of interest and interest in life. The depression diagnosis patient confirms the emotional analysis revealed by his / her robot through the robot, and performs the greeting or ending play. After analyzing the emotions in the expressions after the play, the function of the embodying robot is confirmed by receiving the report. A simple play can not completely cure a patient with a diagnosis of depression, but it can contribute to symptom relief through gradual use. The design of the play-by-play robot is using Q.bo One, an open-source robot that can interact with Thecorpora. Q.bo One's system captures a user's face, takes a picture, passes the value to the Azure server, and checks the emotional analysis before and after the play with the accumulated data.Play is implemented in Rasubian, the OS of Q.bo One, using the programming language Python and interacting with external sensors. The purpose of this paper is to help the symptom relief of depressive patients in a relatively short time with a play robot.

• 재활복지
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• v.22 no.4
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• pp.43-58
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• 2018

Swallowing disorders that can affect nutrient intakes and quality of life are commonly shown among the elderly as well as patients with neurogenic disorder. This study verifies the reliability and validity of the Swallowing Disturbance Questionnaire (SDQ), a subjective swallowing disability assessment tool, modified for Koreans' eating habit and cultural sentiment, against 105 stroke patients, in order to help identify early swallowing problems of the elderly. Reliability of internal consistency in the Korean version of SDQ is .601, test-retest reliability is .97, and concurrent validity is .956. Based on 8 points of cut-off score, 46.8% of sensitivity and 81.6% of specificity. Comparing the results of video fluoroscopic study (VFSS), an objective swallowing disorder test with those of Korean version of SDQ, negative predictive value (NPV) and positive predictive value (PPV) was shown as 81% and 53%. The Korean version of SDQ is expected to be a useful testing tool to discriminate swallowing disorders in stroke patients. It has great clinical significance in that swallowing difficulties shown by subjects can be sorted out to request a diagnostic assessment before clinical evaluation by a rehabilitation therapist or ruling out unnecessary exposure to additional tests by accurately identifying stroke patients without swallowing problems.

• The Journal of Internal Korean Medicine
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• v.40 no.5
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• pp.990-998
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• 2019

Introduction: Stroke refers to a sudden brain disease that results in disorders in the anatomy of the brain. The cause is a sudden circulatory disorder of the cerebrovascular system that creates a consciousness disorder and hemiplegia. Despite aggressive treatment after the onset, stroke is a social problem because the patient has difficulty in recovering from sequelae that can include limb movement disorders, language disorders, and emotional disorders. In this study, we describe the effect of traditional Korean medicine treatment on the sequelae in a subacute cerebral infarction patient admitted to a Korean medical hospital. Case presentation: A 67-year-old male patient was diagnosed with cerebral infarction circa 2005, and his condition had not improved. Around March 15, 2018, he experienced the sudden onset of a cerebral infarction in his daily life. This was confirmed by a brain MRI, and he was hospitalized at other hospitals, but he showed no improvement. We conducted a manual muscle test (MMT) to evaluate the patient's exercise and strength. His gait level was measured to evaluate his degree of walking. He was treated with Bojungikgi-tang and acupuncture twice a day. After 34 days of inpatient treatment, the patient's exercise strength improved from Grade 2+~Grade 3 to Grade 3+ determined by the MMT, and his walking ability improved from Gait Level 3 to Gait Level 4. Conclusion: The findings of this study indicate that acupuncture and herbal medicine treatment can help treat patients with hemiplegia due to cerebral infarction.

• Journal of Oriental Neuropsychiatry
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• v.30 no.1
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• pp.1-11
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• 2019

Objectives: Attention-Deficit/Hyperactivity Disorder (ADHD) is characterized by a persistent pattern of inattention and/or hyperactivity impulsivity that interferes with function or development in children. In traditional Korean medicine (TKM) and traditional Chinese medicine (TCM), ADHD is classified by several patterns based on symptoms and signs. However, currently, there is no objective diagnostic tool for ADHD in traditional medicine. The objective of this study was to develop the Pattern Identification Questionnaire for ADHD (parents-survey style) to be used in Korean medicine, through a literature review and consultation with groups of experts. Methods: The types of pattern identifications of ADHD mentioned in 13 pieces of Korean and Chinese literatures and their symptoms and signs were analyzed. The advisory committee (15 Neuropsychiatrist and 11 Pediatrist in Korean Medicine) assessed the appropriateness of the literature selection and the types of pattern identification selection and their symptoms and signs, and weighed the significance of the symptoms and signs. The Pattern Identification Questionnaire for ADHD was developed using the calculated weights by evaluated significance. The translation of symptoms and signs to the Korean language was achieved through consultation with expert translators. Results: 1. Four pattern identification types and their symptoms and signs were selected according to frequency of appearance in the Korean and Chinese literatures, and were reviewed by the advisory committee: Kidney yin deficiency and liver yang ascendant hyperactivity (腎虛肝亢), Dual deficiencies in the heart and spleen (心脾兩虛), Phlegm-fire harassing the heart (痰火擾心), and Spleen weakness and liver energy preponderance (脾虛肝旺). 2. The weights of all the symptoms and signs in the four patterns were calculated using the means and standard deviations of the symptoms and signs' importance that were obtained from specialists' significance weighting. 3. The Pattern Identification Questionnaire for ADHD (parents-survey style) in Korean medicine composed of 38 questions was suggested. Conclusions: Using a review of the literature and expert advice, Pattern Identification Questionnaire for ADHD (parents-survey style) in Korean medicine was developed. Further clinical study is required to develop a final version of the questionnaire through the evaluation of reliability and validity.

• Therapeutic Science for Rehabilitation
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• v.8 no.2
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• pp.67-78
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• 2019

Objective : The purpose of this study was to investigate the effect of hand tapping on the accuracy and the fluency of speech production in children with speech sound disorder(SSD) and their typically developing peers(TD). Methods : The study subjects were 15 SSD children and 15 TD children aged 4, 5, and 6 years of age. Subjects were asked to give a picture name without hand tapping in the first experimental condition, and with hand tapping in the second experiment condition. Results : The results showed that hand tapping significantly increased disfluency in TD, whereas in SSD. it did not affect the accuracy or fluency of speech production. In addition, TD demonstrated a significant positive correlation with the changes of accuracy and disfluency due to hand tapping, whereas SSD had no correlation. Conclusion : We discussed the possibility that hand tapping could serve as an obstacle distracting attention from SSD and TD, acting as a motor gesture to facilitate phonological processing when facing the difficulty in lexical retrieval for SSD.