• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.37-40
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• 2016

Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-N-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented behavioral changes, sleep disturbance, and progressive motor dysfunction. He had been hospitalized owing to recurrent pneumonia and epilepsy with severe cognitive dysfunction. The patient had compound heterozygous c.1444C>T (p.R482W) and c.1675G>T (p.D559Y) variants of NAGLU. Considering that individuals with MPS IIIB have less prominent facial features and skeletal changes, evaluation of long-term clinical course is important for diagnosis. Although no effective therapies for MPS IIIB have been developed yet, early and accurate diagnosis can provide important information for family planning in families at risk of the disorder.

• Journal of muscle and joint health
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• v.21 no.1
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• pp.75-84
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• 2014

Purpose: The purpose of this study was to test the validity and reliability of the Korean version of the Geriatric Anxiety Inventory (K-GAI). Methods: Two hundreds and thirty six elderly were participated to test K-GAI. Goldberg's short screening scale for anxiety was tested for criterion validity. Receiver operating characteristics (ROC) analysis was used for measuring sensitivity and specificity. Results: The obtained internal consistency was 0.88. There were significant associations between test and retest results. K-GAI scores was significantly associated with Goldberg's short screening scale for anxiety (r=.694, p<.001). We found that a score of seven and greater was optimal for a criterion of anxiety among elderly Koreans. At this cut point, sensitivity was 78.9% and specificity was 73.1%. Conclusion: The K-GAI displayed good psychometric properties. This tool would be useful for early detection of anxiety among elderly Koreans with various situations including cognitive disorder, low education, or physical disability.

• The Korean Journal of Physiology and Pharmacology
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• v.22 no.3
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• pp.343-348
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• 2018

Recent human genetic studies have shown that $G{\beta}5$ is related to various clinical symptoms, such as sinus bradycardia, cognitive disability, and attention deficit hyperactivity disorder. Although the calcium signaling cascade is closely associated with a heterotrimeric G-protein, the function of $G{\beta}5$ in calcium signaling and its relevance to clinical symptoms remain unknown. In this study, we investigated the in vitro changes of store-operated calcium entry (SOCE) with exogenous expression of $G{\beta}5$. The cells expressing $G{\beta}5$ had enhanced SOCE after depletion of calcium ion inside the endoplasmic reticulum. $G{\beta}5$ also augmented Stim1- and Orai1-dependent SOCE. An ORAI1 loss-of-function mutant did not show inhibition of $G{\beta}5$-induced SOCE, and a STIM1-ERM truncation mutant showed no enhancement of SOCE. These results suggested a novel role of GNB5 and Stim1, and provided insight into the regulatory mechanism of SOCE.

• Research in Community and Public Health Nursing
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• v.29 no.4
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• pp.429-439
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• 2018

Purpose: The aim of this study is to identify core keyword of frailty research in the past 35 years to understand the structure of knowledge of frailty. Methods: 10,367 frailty articles published between 1981 and April 2016 were retrieved from Web of Science. Keywords from these articles were extracted using Bibexcel and social network analysis was conducted with the occurrence network using NetMiner program. Results: The top five keywords with a high frequency of occurrence include 'disability', 'nursing home', 'sarcopenia', 'exercise', and 'dementia'. Keywords were classified by subheadings of MeSH and the majority of them were included under the healthcare and physical dimensions. The degree centralities of the keywords were arranged in the order of 'long term care' (0.55), 'gait' (0.42), 'physical activity' (0.42), 'quality of life' (0.42), and 'physical performance' (0.38). The betweenness centralities of the keywords were listed in the order of depression' (0.32), 'quality of life' (0.28), 'home care' (0.28), 'geriatric assessment' (0.28), and 'fall' (0.27). The cluster analysis shows that the frailty research field is divided into seven clusters: aging, sarcopenia, inflammation, mortality, frailty index, older people, and physical activity. Conclusion: After reviewing previous research in the 35 years, it has been found that only physical frailty and frailty related to medicine have been emphasized. Further research in psychological, cognitive, social, and environmental frailty is needed to understand frailty in a multifaceted and integrative manner.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.26-30
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• 2019

PCDH19-related epilepsy is an inherited disease occurring in female patients and characterized by early onset seizure, intellectual disability, and behavioral disturbances. It is caused by de novo or familial heterozygous variation of the PCDH19 gene located on Xq22.1. Our patient was hospitalized for multiple focal seizures. The magnetic resonance imaging was normal and electroencephalogram showed focal epileptiform discharges. The child's development did not progress; she began to manifest, cognitive, behavioral and language delays. Because of that, we performed an epilepsy gene panel test. We report a case of epilepsy with mental retardation limited to female patients with mutation of PCDH19.

• Journal of mucopolysaccharidosis and rare diseases
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• v.4 no.2
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• pp.42-44
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• 2018

Prader-Willi syndrome (PWS) is a multisystemic complex disorder characterized by hyperphagia and impaired satiety which lead to severe and early obesity. In infancy, hypotonia and poor suck are main problems, and a child goes through Failure-to-thrive. During childhood, clinical manifestations change to food seeking as well as excessive weight gain, short stature, developmental delay, cognitive disability and behavioral problems. Also, growth hormone insufficiency is frequent. Most patients receive the recombinant growth hormone (rGH) therapy that provides improvement in growth, body composition, and physical attributes. The clinical care guideline for rGH therapy in PWS had been noticed in 2013. The rGH therapy helps in body fat, lean body mass, height SDS and head circumference. Also, the rGH therapy helps motor function, psychomotor development and cognition and behavioral issues.In Samsung medical center, there are clinical care guidelines for rGH therapy in PWS and an useful application for the patients. 'Living with PWS', the name of an moblie application for PWS patients, was introduced in the lecture. The application revised to version 2. It was made more convenient to users than in version 1. It helps caregivers to schedule the rGH therapy and to monitor height and weight.

• Journal of the Korea Academia-Industrial cooperation Society
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• v.19 no.4
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• pp.301-310
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• 2018

This study was conducted to investigate the relationship between physical function (ADL, IADL) and mental function (depression, cognitive dysfunction) and quality of life in the elderly. The subjects of this study were 524 elderly people aged 65 or older who were admitted to 15 care facilities located in D metropolitan city. Data were collected through a personal interview conducted by interviewers that visited each care facility from November 2015 to January 2016. T-tests and ANOVA were used to compare the quality of life score for each independent variable, while multiple regression was used to determine the explanatory power of independent variables that affected quality of life. Quality of life was significantly lower among those of older age, lower educational level, living alone, with lower relationships with children, lower subjective health status, disability, lower ability for mastication, without regular eating habits, without regular exercise, and without regular health checkups. In addition, quality of life was significantly lower in the ADL and IADL, as well as among those with a higher depression level and lower cognitive impairment scores than their respective counterparts. The results of this study suggest that the quality of life among elderly that have been admitted to care facilities is significantly related to physical and mental functions as well as demographic characteristics, health status and health related behavioral characteristics.

• Journal of Genetic Medicine
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• v.7 no.1
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• pp.45-52
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• 2010

Purpose: The objectives were to examine following 2 questions related to cognitive profile for the children with Williams syndrome (WS); 1) Is there a significant advantage for verbal IQ over performance IQ in WS?; 2) Is there selective impairment in visuospatial ability in the children with WS? Materials and Methods: Five children with WS with the age of $90.86{\pm}20.73$ months were compared with 12 children with Prader-Willi syndrome (PWS) or Down syndrome (DS) with comparable age and IQ. Results: All 5 children with WS showed intellectual disability whose mean scaled scores were $15.71{\pm}9.27$ in verbal subtests and $14.29{\pm}7.50$ in performance subtests, which did not show significant difference. There was no significant difference in the total sum of scaled scores of verbal subtests among WS, PWS and DS. There was no selective impairment in subtests which represented visuospatial tasks for the children with WS. However, the scaled score of object assembly was significantly lower in WS ($2.29{\pm}0.95$) compared to that of PWS ($4.75{\pm}2.77$; P <0.05). Conclusion: The general notion that the children with WS would be relatively strong in verbal function when compared with their overall cognitive function was not observed in this study. The verbal function of the children with WS was not better when compared to the children with DS or PWS. There was no selective impairment of visuospatial function in the children with WS at this age. However, the visuospatial function was significantly low in the children with WS only when compared to the children with PWS.

• The Journal of Dong Guk Oriental Medicine
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• v.8 no.2
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• pp.25-46
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• 2000

Pain can be evaluated by experimental methods and clinical methods, but due to subjective characteristics of pain, clinical methods are generally used. The clinical pain measurement tools are divided into unidimensional and multidimensional assessment tools. The former include Visual Analogue Scale, Verbal Rating Scale, Numerical Rating Scale, Pain Faces Scale, and Poker Chip Tool and the latter include McGill Pain Questionnaire, MMPI, Pain Behavior Scale, Pain disability index, and Pain Rating Scale. Unidimensional pain scales mainly measure the intensity of pain on the basis of the patient's self report and their simple construction and ease of use enable the invesgator to assess acute pain. Multidimensional pain scales are used to evaluate subjective, psychological and behavioral aspects of pain and because of its comprehensive and confidential properties they are applied to chronic pain. Patient's linguistic and cognitive abilities are major factors to restrain accurate assessment of pain. Although behavioral patterns and vital sign are inferior to self-report in the measurement of pain, they can be useful indexes in those situations. When deciding on a pain-assessment tool, the investigator must determine which aspect of pain he or she wishes to evaluate on the characteristics of the group of patients, their backgrounds, and their communication skills. Making the proper choice will facilitate the acquisition of meaningful data and the formulation of valid conclusions.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.40-44
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• 2019

Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease of unknown etiology characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. The clinical presentations of MMD include transient ischemic attacks (TIA), ischemic stroke, hemorrhagic stroke, seizures, headache, and cognitive impairment. MMD is the most important cause of stroke or TIA in children in East Asian countries. A 5-year-3-month old boy with MMD experienced cerebral infarctions five times. Cerebrovascular anastomosis surgery was performed on him four years ago. He had dysphagia, developmental delay, hemiplegia, and strabismus. Besides, a number of dental caries in primary dentition were identified during clinical oral examination. Dental treatment under general anesthesia using sevoflurane was performed due to his lack of cooperation and underlying systemic disease. MMD is associated with various medical diseases requiring thoughtful consideration during dental treatment. Crying and hyperventilation in MMD patients may cause hypocapnia and have a cerebral vasoconstrictive effect. If dental treatment is required, control of pain and anxiety is very important. General anesthesia may be considered for dental treatment in uncooperative or very young patients with MMD.