• Journal of Yeungnam Medical Science
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• v.25 no.1
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• pp.78-83
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• 2008

Lesch-Nyhan syndrome is an inborn error of purine metabolism resulting from hypoxanthine-guanine-phosphoribosyltransferase (HGPRT) deficiency and leading to excess purine production and uric acid over-production. It is a very rare X-linked recessive disorder, characterized by movement disorder, cognitive deficits, and self-injurious behavior. However, because of the high incidence of calculi, patients may present for surgery of urinary tract, and have increased risk of difficult intubation, aspiration pneumonia, renal insufficiency or sudden death. We report the case of a 5-year-old boy with Lesch-Nyhan syndrome who underwent successive extracorporeal shockwave lithotripsy under general anesthesia.

• Journal of Preventive Medicine and Public Health
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• v.46 no.sup1
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• pp.12-21
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• 2013

Several epidemiological studies have shown that exercise (EX) and physical activity (PA) can prevent or delay the onset of different mental disorders, and have therapeutic benefits when used as sole or adjunct treatment in mental disorders. This review summarizes studies that used EX interventions in patients with anxiety, affective, eating, and substance use disorders, as well as schizophrenia and dementia/mild cognitive impairment. Despite several decades of clinical evidence with EX interventions, controlled studies are sparse in most disorder groups. Preliminary evidence suggests that PA/EX can induce improvements in physical, subjective and disorder-specific clinical outcomes. Potential mechanisms of action are discussed, as well as implications for psychiatric research and practice.

• Journal of Korean Medical Science
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• v.33 no.47
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• pp.300.1-300.17
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• 2018

Parkinson's disease (PD) is the second most common neurodegenerative disorder. Although its major manifestation is motor symptoms, resulting from the loss of dopaminergic neurons in the substantia nigra, psychiatric symptoms, such as depression, anxiety, hallucination, delusion, apathy and anhedonia, impulsive and compulsive behaviors, and cognitive dysfunction, may also manifest in most patients with PD. Given that the quality of life - and the need for institutionalization - is so highly dependent on the psychiatric well-being of patients with PD, psychiatric symptoms are of high clinical significance. We reviewed the prevalence, risk factors, pathophysiology, and treatment of psychiatric symptoms to get a better understanding of PD for improved management.

• Journal of Genetic Medicine
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• v.18 no.2
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• pp.75-82
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• 2021

Speech and language functions are highly cognitive and human-specific features. The underlying causes of normal speech and language function are believed to reside in the human brain. Developmental persistent stuttering, a speech and language disorder, has been regarded as the most challenging disorder in determining genetic causes because of the high percentage of spontaneous recovery in stutters. This mysterious characteristic hinders speech pathologists from discriminating recovered stutters from completely normal individuals. Over the last several decades, several genetic approaches have been used to identify the genetic causes of stuttering, and remarkable progress has been made in genome-wide linkage analysis followed by gene sequencing. So far, four genes, namely GNPTAB, GNPTG, NAGPA, and AP4E1, are known to cause stuttering. Furthermore, thegeneration of mouse models of stuttering and morphometry analysis has created new ways for researchers to identify brain regions that participate in human speech function and to understand the neuropathology of stuttering. In this review, we aimed to investigate previous progress, challenges, and future perspectives in understanding the genetics and neuropathology underlying persistent developmental stuttering.

• Journal of information and communication convergence engineering
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• v.21 no.4
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• pp.281-286
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• 2023

Diagnosing reading disorders involves complex procedures to evaluate complex cognitive processes. For an accurate diagnosis, a series of tests and evaluations by human experts are required. In this study, we propose a quantitative tool to diagnose reading disorders based on natural reading behaviors using minimal human input. The eye movements of the third- and fourth-grade students were recorded while they read a text at their own pace. Seven machine learning models were used to evaluate the gaze patterns of the words in the presented text and classify the students as normal or having a reading disorder. The accuracy of the machine learning-based diagnosis was measured using the diagnosis by human experts as the ground truth. The highest accuracy of 0.8 was achieved by the support vector machine and random forest classifiers. This result demonstrated that machine learning-based automated diagnosis could substitute for the traditional diagnosis of reading disorders and enable large-scale screening for students at an early age.

• Journal of Interdisciplinary Genomics
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• v.5 no.2
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• pp.13-17
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• 2023

KBG syndrome (KBGS) is a multisystem disorder characterized by short stature, distinctive facial features including macrodontia of upper central permanent incisors, and developmental/cognitive delay. It is caused by variants or deletion of Ankyrin Repeat Domain 11 (ANKRD11) located in chromosome 16q24.3. Since its initial report in 1975, KBG syndrome has been recognized as an exceedingly rare disorder. However, recent advancements in genetic diagnostic techniques have led to an increase in both the diagnosis rate and the number of reported cases, contributing to a rapid increase in its global prevalence. We review the clinical aspects of KBGS, including previously reported and newly reported cases, as well as the related genetic patterns discovered so far.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.31 no.1
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• pp.26-32
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• 2020

With the advancement in modern information technology, virtual reality (VR) is being increasingly used for the diagnosis, assessment, and treatment of mental disorders. Recently, a VR-based cognitive behavioral therapy for social phobia has been recognized as a new medical technology in South Korea. This might lead to an increase in the use of VR in the field of psychiatry. The present review provides an overview of the status of VR therapies in various psychiatric conditions such as anxiety disorder, post-traumatic stress disorder, psychosis, addiction, and eating disorder. Besides, it summarizes the role of VR therapy in the management of disorders associated with child and adolescence psychiatry as well as various other clinical applications. Additionally, we discuss the merits and limitations of VR therapy, which might serve as a useful reference for researchers. In the current environment wherein novel medical models consisting of a combination of digital devices and medicine are being developed; understanding new technologies such as VR could open new doors to mental health treatments.

• The Journal of Pediatrics of Korean Medicine
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• v.31 no.4
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• pp.49-60
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• 2017

Objectives The purpose of this study is to report the effectiveness of Korean medicine on treating autism spectrum disorder (ASD) in childhood. Methods We treated an 8-years-old patient who was diagnosed with autism (grade II) with herbal medicine, acupuncture and electric moxibustion. Every 11 months, Korean-Childhood Autism Rating Scale (K-CARS) was used to assess the patient's symptom progression. Results After 21 months of Korean medicine treatment, the child's overall health was improved. Moreover, language ability, emotional control, memory and cognitive abilities got better, as well as anxiety, agitation, and aggressive behavior related to ASD were also decreased. K-CARS score at the initial stage of the treatment was 39.5 points, which can be considered as severe autism. After 11 months of the treatment, the K-CARS score was 34.5 points which is mild-moderate autism. Conclusions Korean medicine treatment can be effective in improving symptoms of ASD. However, further studies are needed to demonstrate the treatment benefits to ASD.

• Korean Journal of Biological Psychiatry
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• v.22 no.3
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• pp.101-108
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• 2015

Recent breakthroughs in functional neuroimaging techniques have launched the quest of mapping the connections of the human brain, otherwise known as the human connectome. Imaging connectomics is an umbrella term that refers to the neuroimaging techniques used to generate these maps, which recently has enabled comprehensive brain mapping of network connectivity combined with graph theoretic methods. In this review, we present an overview of the key concepts in functional connectomics. Furthermore, we discuss articles that applied task-based and/or resting-state functional magnetic resonance imaging to examine network deficits in post-traumatic stress disorder (PTSD). These studies have provided important insights regarding the etiology of PTSD, as well as the overall organization of the brain network. Advances in functional connectomics are expected to provide insight into the pathophysiology and the development of biomarkers for diagnosis and treatment of PTSD.

• The Korean Journal of Pain
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• v.28 no.3
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• pp.169-176
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• 2015

This review has focused on important but less visible aspects of fibromyalgia (FM) with respect to the high impact of this disorder on patients and societies. FM is a common but challengeable illness. It is characterized by chronic widespread pain, which can be accompanied by other symptoms including fatigue, sleep disturbances, cognitive dysfunction, anxiety and depressive episodes. While our understanding of this debilitating disorder is limited, diagnosis and treatment of this condition is very difficult, even in the hands of experts. Due to the nature of disease, where patients experience invalidation by medical services, their families and societies regarding the recognition and management of disease, direct, indirect and immeasurable costs are considerable. These clinical and economic costs are comparable with other common diseases, such as diabetes, hypertension and osteoarthritis, but the latter usually receives much more attention from healthcare and non-healthcare resources. Present alarming data shows the grave and "iceberg-like" burden of FM despite the benign appearance of this disorder and highlights the urgent need both for greater awareness of the disease among medical services and societies, as well as for more research focused on easily used diagnostic methods and target specific treatment.