• Dementia and Neurocognitive Disorders
• /
• v.21 no.1
• /
• pp.17-29
• /
• 2022

Background and Purpose: Verbal and nonverbal fluency tests are the conventional methods for examining executive function in the elderly population. However, differences in impairments result in fluency tests in patients with mild cognitive impairments (MCIs) and Alzheimer's disease (AD) and in neural correlates underlying the tests still necessitate concrete evidence. Methods: We compared the test performances in 27 normal controls, 28 patients with MCI, and 20 with AD, and investigated morphological changes in association with the test performances using structural magnetic imaging. Results: Patients with AD performed poorly across all the fluency tests, and a receiver operating characteristics curve analysis revealed that only category fluency test discriminated all the 3 groups. Association, category, and design fluency tests involved temporal and frontal regions, while letter fluency involved the cerebellum and caudate. Conclusions: Category fluency is a reliable measure for screening patients with AD and MCI, and this efficacy might be related to morphological correlates that underlie semantic and executive processing.

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

• The Journal of Bigdata
• /
• v.8 no.1
• /
• pp.11-22
• /
• 2023

This research aimed to examine the public's perception of the "rate of sentence reduction for reasons of mental and physical weakness" and investigate if it aligns with the actual practice. Various sources, such as the Supreme Court's Courtnet search system, the number of mental evaluation requests, and the number of articles and comments related to "mental weakness" on Naver News were utilized for the analysis. The findings indicate that the public has a negative opinion on reducing sentences due to mental and physical weakness, and they are dissatisfied with the vagueness of the standards. However, this study also confirms that the court strictly applies the reduction of responsibility for individuals with mental disabilities specified in Article 10 of the Criminal Act based on the analysis of actual judgments and the number of requests for psychiatric evaluation. In other words, even though the recognition of perpetrators' mental disorders is declining, the public does not seem to recognize this trend. This creates a negative impact on the public's trust in state institutions. Therefore, law enforcement agencies, such as the police and prosecutors, need to enforce the law according to clear standards to gain public trust. The judiciary also needs to make a firm decision on commuting sentences for mentally and physically infirm individuals and inform the public of the outcomes of its application.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
• /
• v.12 no.1
• /
• pp.71-78
• /
• 2001

Objectives：Few studies have examined the psychiatric properties or child developmental problems associated with inversion of chromosome 9. The purpose of this study is to examine the psychiatric properties of child patients who have inversion of chromosome 9, focused on behavioral problems and child developmental problems like motor or language developmental delay, intellectual impairment, and growth retardation. Methods：1) The authors examined the cases referred for cytogenetic examination from 1984 to 2000 at Seoul National University Hospital in Korea. The cases with the examination result of inversion of chromosome 9 were collected and informations about the departments which referred and the main reasons for referral were also checked. 2) 12 child subjects with inversion of chromosome 9 and their parents underwent psychiatric interview and parent questionnaire(child and adolescent past history questionnare, CBCL). 45 normal students whose sex and age were matched to patients were selected as a control group. Results：1) There were 165 cases of inversion of chromosome 9. The major departments which referred were Obstetrics and Gynecology(47.3%), Pediatrics(23.6%) and Child and Adolescent Psychiatry(17.0%). The major reasons for referral from the Pediatrics and the Child and Adolescent Psychiatry department (67 cases total) were intellectual impairment(35.8%), language or motor developmental delay(31.3%), suspected Fragile X syndrome(23.9%), and growth retardation(20.9%). 2) Compared to normal control group, the rate to be included in the clinical range with regard to the social problems profile was higher in patient group according to the CBCL results. The patient group had language and motor developmental delay. Conclusion：There is a possibility of inversion of chromosome 9 to be associated with child developmental problems or behavioral problems. This study is the first approach to evaluate the developmental aspects associated with inversion of chromosome 9.

• The Korean Journal of Nuclear Medicine
• /
• v.30 no.3
• /
• pp.299-314
• /
• 1996

The purpose of the present study was to validate the use of tissue radioactivity ratios instead of regional metabolic rates for the assessment of regional metabolic changes in Alzheimer's disease(AD) with [$^{18}F$]FDG PET and to examine the correlation of ratio indices with the severity of cognitive impairment in AD. Thirty-seven AD Patients(age $68{\pm}9 yrs$, $mean{\pm}s.d.$; 36 probable and 1 definite AD), 28 patients with dementia of non-Alzheimer type(age $66{\pm}7 yrs$), and 17 healthy controls(age $66{\pm}4 yrs$) underwent [$^{18}F$]FDG PET imaging. Two simplified radioactivity ratio indices were calculated from 37-66 min image: region-to-cerebellar radioactivity ratio(RCR) and a composite radioactivity ratio(a ratio of radioactivity in the most typically affected regions over the least typically affected regions: CRR). Local cerebral metabolic rate for glucose(LCMRglu) was also measured using a three-compartment, five-parameter tracer kinetic model. The ratio indices were significantly lower in AD patients than in controls(RCR in temporoparietal cortex, $0.949{\pm}0.136$ vs. $1.238{\pm}0.129$, p=0.0004; RCR in frontal cortex, $1.027{\pm}0.128$ vs. $1.361{\pm}0.151$, p<0.0001; CRR, $0.886{\pm}0.096$ vs. $1.032{\pm}0.042$. p=0.0024). On the RCR analysis, 86% of AD patients showed a pattern of bilateral temporoparietal hypometabolism with or without frontal involvement; hypometabolism was unilateral in 11% of the patients. When bilateral temporoparietal hypometabolism was considered to be suggestive of AD, the sensitivity and specificity of the RCR analysis for the differential diagnosis of AD were 86% and 73%, respectively. The RCR was correlated significantly with the macroparameter K [$K_1k_3/(k_2+k_3)$] (r=0.775, p<0.0001) and LCMRglu(r=0.633, p=0.0002) measured using the kinetic model. In patients with AD, both average RCR of cortical association areas and CRR were correlated with Mini-Mental Status Examination(r=0.565, p=0.0145; r=0.642, p=0.0031, respectively), Clinical Dementia Rating(r=-0.576, p=0.0124; r=-0.591, p=0.0077), and total score of Mattis Dementia Rating Scale (r=0.574, p=0.0648; r=0.737, p=0.0096). There were also significant correlations between memory and language impairments and corresponding regional RCRs. The results suggest that the [$^{18}F$]FDG PET ratio indices, RCR and CRR, reflect global and regional metabolic rates and correlate with the severity of cognitive impairment in AD. The simplified ratio analysis may be clinically useful for the differential diagnosis and serial monitoring of the disease.

• Journal of Pharmacopuncture
• /
• v.22 no.4
• /
• pp.231-238
• /
• 2019

Objectives: Alzheimer's disease (AD), an overwhelming neurodegenerative disease, has deleterious effects on the brain that consequently causes memory loss and language impairment. This study was intended to investigate the neuroprotective activity of the two essential oils (EOs) from Iranian Pistacia khinjuk (PK) leaves and Allium sativum (AS) cloves against β-Amyloid 25-35 (Aβ25-35) induced elevation of cholinesterase enzymes in AD. Methods: The EOs of PK (PKEO) and AS (ASEO) were prepared and analyzed in terms of extraction yield, phenolic content, and cholinergic markers in vitro. Moreover, both were administered orally to adult male Wistar rats at concentrations of 1, 2, and 3%. The inhibitory potential of PKEO and ASEO was compared with Donepezil (0.75 mg/kg) against the high activities of acetylcholinesterase (AChE) and butyrylcholinesterase (BChE) enzymes. Results: PKEO reached an inhibition rate of 83.6% and 81.4% against AChE and BChE, respectively. ASEO had lower anti-cholinesterase activity (65.4% and 31.5% for the inhibition AChE and BChE). PKEO was found to have more phenolic content than ASEO. A significantly positive correlation was observed between the total phenolics and anti-cholinesterase potential. In rats, both EOs decreased the enzyme activity in a concentration-dependent manner. As compared with Donepezil, the significant difference in the AChE and BChE inhibition occurred as rats were treated with PKEO 3% (p < 0.05). Conclusion: It could be concluded that PKEO and ASEO are potent inhibitors of AChE and BChE in rats that hold promise to be used for the treatment of AD.

• Annals of Clinical Neurophysiology
• /
• v.19 no.2
• /
• pp.101-112
• /
• 2017

Detection of underling proteinopathies is becoming increasingly important across neurodegenerative conditions due to upcoming disease intervention trials. In this review, we explored how temporal lobe changes in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) can potentially predict underlying TDP-43 pathology subtypes in FTD. To date, emphasis has been given to frontal lobe changes in the study of the cognitive and behavioural impairments in both syndromes but an increasing number of pathological, imaging and neuropsychological studies suggest how temporal lobe changes could critically affect the cognition and behaviour of these conditions. In this current article, we reviewed pathological, imaging as well as clinical/neuropsychological findings of temporal involvement in the ALS-FTD continuum, how they relate to temporal lobe changes and the underlying TDP-43 pathology in FTD. Findings across studies show that TDP-43 pathology occurs and coincides in many structures in ALS and FTD, but especially in the temporal lobes. In particular, anterior and medial temporal lobes atrophy is consistently found in ALS and FTD. In addition, memory and language impairment as well as emotional and Theory of Mind processing deficits that are characteristics of the two diseases are highly correlated to temporal lobe dysfunction. We conclude by showing that temporal lobe changes due to TDP-43 type B might be particular predictive of TDP-43 type B pathology in behavioural variant FTD, which clearly needs to be investigated further in the future.

• Korean Journal of Occupational Health Nursing
• /
• v.29 no.4
• /
• pp.342-353
• /
• 2020

Purpose: This study aimed to systematically review literature and conduct a meta-analysis to comprehensively identify and evaluate the effects of workplace risk assessment-based ergonomic intervention on work-related muscular-skeletal disorders in workers. Methods: We searched the Ovid-Medline, EMBASE, and Cochrane library and up to 2018 using search terms such as muscular-skeletal, disorder, impairment, work-related muscular-skeletal disorders, ergonomic, intervention, management with no language limitations; screened reference lists; and contacted experts in the field. Results: We identified 545 references and included 13 randomized controlled tests (3,368 workers). We judged nine studies to have a low risk of bias, while the other four studies have a high risk of bias. Conclusion: Ergonomic intervention based on risk assessment in the workplace did not significantly differ in terms of the intensity of pain or duration of workers in the workplace, but low-quality evidence decreased the frequency of musculoskeletal disorder pain in three to six months moderate-quality evidence and in six to nine months low-quality evidence. Besides, low-quality evidence to reduce discomfort and moderate-quality evidence to improve worker posture. Therefore, ergonomic intervention based on the assessment of risk factors in the workplace should be applied to reduce pain frequency and discomfort and improve workers posture among musculoskeletal disorders.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.25 no.3
• /
• pp.525-532
• /
• 1998

The autism is a complex disorder, characterized language impairment, perceptual-motor difficulties, and social disturbance. The autistic children have hyperactivity, lack of communication' lack of cooperation, inappropriate patient/dentist interaction, so they require professionally recognized behavioral management technique during dental treatment such as behavior modification, phamacological agents, and general anesthesia. A behavior management technique can be chosen by factors such as the severity of autism and possible accompanying disabilities, degree of cooperation, oral and general conditions of children. A non-pharmacological behavior modification may be selected for the autistic children who are able to communicate with dentist with mild dental caries, without compromised medical history. In case of excessively hyperactive, destructive, antisocial, and/or severe communicative disorder, a sedation technic with chloral hydrate, hydroxyzine, midazolam or nitrous oxide gas might to be performed. General anesthesia is preferred for severe communicative and/or behavioral disorder, elder age, excessive dental care need, and living a remote area.

• Journal of the Korean Society of Physical Medicine
• /
• v.18 no.1
• /
• pp.99-110
• /
• 2023

PURPOSE: This study was conducted to suggest a way to easily understand and utilize the International Classification of Functioning, Disability and Health (ICF) or Korean Standard Classification of Functioning, Disability and Health (KCF), a common and standard language related to health information. METHODS: The tools used by physical therapists to evaluate the functioning of neurological patients were collected from 10 domestic hospitals. By applying the ICF linking rule, two experts compared, analyzed, and linked the concepts in the items of the collected tools and the ICF/KCF codes. The frequency of use of the selected tool, the matching rate of the liking results of two experts, and the number of the codes linked were treated as descriptive statistics and the code set was presented as a list. RESULTS: The berg balance scale, trunk impairment scale, timed up and go test, functional ambulation category, 6 Minute walk test, manual muscle test, and range of motion measurements were the most commonly used tools for evaluating the functioning. The total number of items of the seven tools was 33, and the codes linked to the ICF/KCF were 69. Twenty-two codes were mapped, excluding duplicate codes. Ten codes in the body function, 11 codes in the activity, and one code in the environmental factor were included. CONCLUSION: The information on the development process of the code set will increase the understanding of ICF/KCF and the developed code set can conveniently be used for collecting patients' functioning information.