• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.272-275
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• 2018

KBG syndrome is a rare neurodevelopmental disorder characterized by intellectual disability, skeletal anomalies, short stature, craniofacial dysmorphism, and macrodontia. ANKRD11 gene mutation and 16q24.3 microdeletion have been reported to cause KBG syndrome. Here, we report two patients with ANKRD11 mutations who initially presented with neurologic symptoms such as developmental delay and seizures. Patient 1 was a 23-month-old boy who presented with a global developmental delay. Language delay was the most dominant feature. He had hypertelorism, hearing impairment, and behavior problems characterized as hyperactivity. A c.1903_1907delAAACA (p.Lys635GInfsTer26) mutation in ANKRD11 was identified with diagnostic exome sequencing. Patient 2 was a 14-month-old boy with developmental delay and seizure. He also had atrial septum defect, and ventricular septal defect. Generalized tonic seizures began at the age of 8 months. Electroencephalography showed generalized sharp and slow wave pattern. Seizures did not respond to antiepileptic drugs. A loss of function mutation c.5350_5351delTC (p.ser1784HisfsTer12) in ANKRD11 was identified with diagnostic exome sequencing. In both cases, characteristic features of KBG syndrome such as short stature or macrodontia, were absent, and they visited the hospital due to neurological symptoms. These findings suggest that more patients with mild phenotypes of KBG syndrome are being recognized with advances in diagnostic exome sequencing genetic technologies.

• Therapeutic Science for Rehabilitation
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• v.10 no.2
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• pp.95-108
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• 2021

Objective : This study aimed to develop prototypes of "smart stacking cones" by combining ICT to evaluate and train the upper extremity function and dual task performance in patients with central nervous system impairment, and to identify the complementary point to the completion of the device through a usability test. Methods : This prototype comprised of a hardware and software system that enabled the evaluation and training of patients and the management of data obtained from patients' performance. Specific measurement variables were established so that patient performance could be measured correctly. Based on the measurement variables, a the prototype included a 'single task evaluation modes', 'dual task evaluation mode', 'single task training mode', and 'dual task training modes'. Additionally, a usability test was conducted to assess clinical applicability and overall satisfaction for the prototype. Results : The results of the usability test were generally found to be appropriate. The 'content adequacy' in the usability test was the area with the highest level of adequacy and the lowest level of inadequacy. Additionally, overall 'satisfaction' in the usability test was the area with the highest appropriate and inappropriate levels. Hence, the overall satisfaction results were unstable. Conclusion : Future studies should be conducted to identify the clinical effectiveness of the device by applying an upgraded smart stacking cone to an actual patient group.

• Therapeutic Science for Rehabilitation
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• v.8 no.1
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• pp.73-84
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• 2019

Objective: The purpose of this study is to compare the effect of Lee Silverman Voice Treatment-BIG(LSVT-BIG) intervention which consisted of standardized exercise programs and occupation-based activities for people with Parkinson Disease(PD) on motor functions and quality of life Methods: This study applied a one group pretest-posttest design. The experiment was divided into two parts: pre intervention and post intervention period. Before and after LSVT-BIG intervention, Unified Parkinson's Disease Rating Scale(UPDRS), Time up and go(TUG), Parkinson's Disease Questionnaire-39(PDQ-39) were used to measure the participants' motor functions and quality of life. Based on the LSVT-BIG protocol, three participants received 16 one-hour sessions over 4 weeks by a certified occupational therapist. The results were analyzed by using SPSS. Results: There were improvements in UPDRS and TUG. Additionally, PDQ-39 scores decreased in all participants, which means that their quality of life was improved. Conclusions: The study demonstrated positive effects of LSVT-BIG intervention on motor functions and quality of life of patients with PD.

• The Journal of Internal Korean Medicine
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• v.40 no.2
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• pp.220-227
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• 2019

Objectives: Parkinson's disease is the neurodegenerative disease that affects both motor and non-motor function, including postural instability. Camptocormia is an abnormal condition in which the thoracolumbar spine bends forward during walking or standing. However, the treatment options are limited and often not effective. The purpose of this study was to report on the Korean medical treatment of a Parkinson's disease patient with postural instability who presented with camptocormia. Methods: We used Korean medical treatment including herbal medicine (Jemageopung-tang), acupuncture and pharmacopuncture therapy to the patient who was admitted to the hospital for 21 days. The clinical symptoms were assessed with the Unified Parkinson's Disease Rating Scale (UPDRS) and walking time without assistance. Results: After treatment, the UPDRS Parts 2 and 3 scores were decreased from 5 to 3 and 20 to 9, respectively. Also, the walking time without assistance was improved. Conclusion: This study suggested that Korean medical treatment could be an effective option for treating Parkinson's disease with postural instability.

• Journal of Life Science
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• v.31 no.2
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• pp.237-247
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• 2021

Immune responses in the central nervous system (CNS) function as the host's defense system against pathogens and usually help with repair and regeneration. However, chronic and exaggerated neuroinflammation is detrimental and may create neuronal damage in many cases. The NOD-, LRR-, and pyrin domain―containing 3 (NLRP3) inflammasome, a kind of NOD-like receptor, is a cytosolic multiprotein complex that consists of sensors (NLRP3), adaptors (apoptosis-associated speck like protein containing a caspase recruitment domain, ASC) and effectors (caspase 1). It can detect a broad range of microbial pathogens along with foreign and host-derived danger signals, resulting in the assembly and activation of the NLRP3 inflammasome. Upon activation, NLRP3 inflammasome leads to caspase 1-dependent secretion of the pro-inflammatory cytokines IL-1β and IL-18, as well as to gasdermin D-mediated pyroptotic cell death. NLRP3 inflammasome is highly expressed in CNS-resident cell types, including microglia and astrocytes, and growing evidence suggests that NLRP3 inflammasome is a crucial player in the pathophysiology of several neuroinflammatory and psychiatric diseases, such as Alzheimer's disease, Parkinson's disease, multiple sclerosis, stroke, traumatic brain injury, amyotrophic lateral sclerosis, and major depressive disorder. Thus, this review describes the molecular mechanisms of NLRP3 inflammasome activation and its crucial roles in the pathogenesis of neurological disorders.

• Therapeutic Science for Rehabilitation
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• v.10 no.1
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• pp.105-114
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• 2021

Objective : The purpose of this study was to identify and compare the sex differences in episodic memory and spatial cognition in healthy young adults. Methods : Forty-eight undergraduates (male=24, female=24) were assessed for sex differences using the visual stimuli episodic memory task and the virtual reality-based spatial cognition task. The accuracy rates (%) for the What, Where, and When conditions of the episodic memory task and the average distance error (cm) for 10 trials of the spatial cognition task were analyzed. Results : There were no significant sex differences between the three conditions. The male participants showed a significantly higher performance on the spatial cognition task than the female participants Conclusion : The results of this study indicated that the sex differences in episodic memory could be altered by the test methods. Although episodic memory and spatial cognition mainly depend on the hippocampus, the sex-related differences between the two functions were inconsistent, suggesting that these two functions are independent.

• Therapeutic Science for Rehabilitation
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• v.10 no.3
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• pp.43-56
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• 2021

Objective : The objective of this study was to present the components of frailty by organizing the definitions of frail elderly and analyzing the tools used to screen them. Methods : This study searched for articles at involved frailty screening assessments in the elderly. Databases including CINAHL, Embase, Medline Complete, and PubMed were searched. The search terms were "assess" AND "frailty" AND "screening" AND ("frail elderly" OR "elderly"). Results : A total of 539 articles were identified by the search and 11 articles were selected. Frailty occurs due to the depressed function of multidimensional factors, and a frail elderly person is defined as one at high risk of health degeneration, functional impairment, and occurrence of disability, and having a high level of threat to life. Seven tools were selected from 11 articles. The most frequently used tool was the frailty phenotype, which was used in five articles (45.4%). The identified components of frailty were physical, activity participation, nutrition, psychological, social, overall health, and age. Conclusion : The results confirmed the definition and components of frailty. This study is expected to contribute to the future development of standardized evaluation tools for screening frail elderly individuals and intervention programs for the management of the frail elderly.

• Therapeutic Science for Rehabilitation
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• v.11 no.3
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• pp.51-64
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• 2022

Objective : The purpose of this study is to establish the domain for assessment of feeding disorder with cerebral palsy. In addition, it is to develop item on feeding assessment for feeding disorder on children with cerebral palsy Methods : Factors to be included in the assessment of feeding disorders in children with cerebral palsy based on the ICF classification criteria constituted the assessment domain through literature review. Results : Assessment items of feeding disorders in children with cerebral palsy were categorized into 6 domains. These were systematized through expert advice, and through the first and second Delphi surveys, nine middle categories, 32 sub-categories, and 76 items were confirmed. Conclusions : The results of this study are useful for occupational therapists who want to check the current feeding function and activity level during therapeutic interventions for children with cerebral palsy who have feeding disorders.

• Journal of Korean Neurosurgical Society
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• v.66 no.1
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• pp.72-81
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• 2023

Objective : Ischemia and hemorrhage of pituitary adenomas (PA) caused important clinical syndrome. However, the differences on clinical characteristics and surgical outcomes between these two kinds apoplexy were less reported. Methods : A retrospective analysis was made of patients with pituitary apoplexy between January 2013 and June 2018. Baseline and clinical characteristics before surgery were reviewed. All patients underwent transsphenoidal surgery and were followed up at least 1 year. Results : Total 67 cases (5.8%) among 1147 pituitary tumor patients were enrolled, which consisted of 28 (~2.4%) ischemic PA and 39 (~3.4%) hemorrhagic PA. There were more male patients in the ischemic group compared with hemorrhagic group (78.6% vs 53.8%, p=0.043). However, the mean age, tumor size and functional tumor ratio were significant higher in the hemorrhagic group. Headache was more common in ischemic PA (82.1%) than that of hemorrhagic PA (51.3%, p=0.011). Magnetic resonance imaging findings found that mucosal thickening and enhancement of the sphenoid sinus was observed in 15 ischemic PA patients (n=27, 55.6%), but none in patients with hemorrhagic PA (n=38, p<0.0001). It was worth noting that the rate of pre-surgical hypopituitarism in ischemic PA patients were seemed higher than that in hemorrhagic PA patients, but not significant. The two groups got a total tumor resection rate at 94.1% and 92.9%, independently. No significant difference on the operative time, blood loss in operation and complications in perioperative period was observed in two groups. After operation, cranial nerve symptoms recovered to normal at 81.8% of ischemic PA patients and 82.6% of hemorrhagic PA patients. Importantly, the incidence of postoperative hypopituitarism partially decreased in both groups, among which the rate of hypothyroidism in ischemic PA patients significantly decreased from 46.4% to 18.5% (p=0.044). Conclusion : Patients with ischemic PA presented different clinical characteristics to the hemorrhagic ones. Transsphenoidal surgery should be considered for the patients with neuro-ophthalmic deficits and might benefit for pituitary function recovery of the apoplectic adenoma patients, especially pituitary thyroid axis in ischemic PA patients.

• Therapeutic Science for Rehabilitation
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• v.12 no.4
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• pp.67-80
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• 2023

Objective : This study aimed to investigate the current status of physical therapy in children and adolescents. Methods : Sixty questionnaires from physical therapists treating children and adolescents with disabilities were analyzed. The questionnaire consisted of questions on physical therapy, participants, satisfaction, and the assessment of pediatric and adolescent physical therapy. Descriptive statistics and frequencies were used to investigate the current status, participants, and satisfaction. Differences between physical therapy participation difficulty, importance-ability of major aspects of pediatric and adolescent physical therapy, and therapy goal frequency were analyzed using paired T-test. Results : 11 to 15 cases (66.7%) and one-on-one treatment (95.0%) were performed independently (95.0%). The main ages of the subjects were preschool and school, the diagnoses were brain lesions and developmental delay, and treatment was conducted for up to 20 years or older. Satisfaction with pediatric and adolescent physical therapy was high (70.0%), as was the intensity of work (71.7%). Neurodevelopmental therapy, gait training, and goal-directed rehabilitation were the main treatments, and Gross Motor Function Measures of 88 and 66, respectively, were used. Respondents said that current fee system is inadequate (66.1%) and appropriate fee system is needed. Conclusion : This study extensively investigated the content of and factors related to pediatric and adolescent physical therapy. Based on the current situation, efforts to improve the expertise and continuity of pediatric and adolescent physical therapists and apply the latest treatment techniques are required.