• Journal of Genetic Medicine
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• v.18 no.1
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• pp.55-59
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• 2021

West syndrome (WS) presenting with infantile spasms, developmental delay, and hypsarrhythmia has genetic etiology in some patients. Movement disorders or visual impairment that share genetic underpinnings with infantile spasms can provide diagnostic clues for specific genetic mutations. Mutations of the GRIN1 gene encoding the glutamate receptor inotropic N-methyl-D-aspartate subunit can result in WS with hyperkinetic movements, cortical visual impairment, autistic features, and bilateral polymicrogyria. An 11-month-old boy with WS showed hyperkinetic movements and visual impairment. Brain magnetic resonance imaging and metabolic investigations revealed no abnormalities. Whole-exome sequencing revealed a novel likely pathogenic variant (c.1561_1563del; p.Asn521del) of GRIN1 (NM_007327.3). The proband was treated with vigabatrin and became seizure-free within one week. Notably, the cortical blindness improved within 3 months and the hyperkinetic movements resolved one year after the proband became seizure-free. To the best of our knowledge, this is the first report of GRIN1 encephalopathy in Koreans.

• Archives of Plastic Surgery
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• v.38 no.1
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• pp.85-88
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• 2011

Purpose: Takotsubo cardiomyopathy is a relatively uncommon type of stress-induced cardiomyopathy characterized by transient left ventricular regional wall motion abnormalities. Emotional and physical stresses play a key role in this type of cardiomyopathy in postmenopausal women. The current hypothesis is that the syndrome represents a form of catecholamine surge due to stress or epinephrine-mediated acute myocardial stunning. Methods: A 44-year-old woman had suffered premature ventricular contraction following a cardiogenic shock during a breast augmentation surgery under enflurane anesthesia and tumescent solution infiltration. She was treated with cardiopulmonary resuscitation at a local clinic. Then she was brought to the Emergency Department of the authors' hospital. Results: The woman's echocardiogram showed an ejection fraction of 20~25% with associated basal hyperkinesis and left ventricular apical ballooning. The patient was admitted to the ICU and required inotropic support for two weeks. The patient's condition dramatically improved, and her ejection fraction returned to 70%. Conclusion: It is believed that there were multiple triggering factors of the onset of Takotsubo cardiomyopathy in the woman's social and family history, including infiltration of a large volume of the tumescent solution and VPCs induced by enflurane anesthesia without premedication. The importance of careful history-taking, careful pre-operative consultation on psychological suffering especially for breast surgery, premedication before surgery, patient reassurance, and post-operative psychosocial and emotional assistance was again seen in this case.

• Journal of Oriental Neuropsychiatry
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• v.15 no.1
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• pp.9-25
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• 2004

Behavioral characteristics of Attention Deficit Hyperactivity Disorder(ADHD) is one of the most common mental disorders among children.child psyachiatry. Inattention, Hyperactivity that is done by hyperkinesis or minimal brain dysfunction is major sypmton in ADHD, But etiology and pathological facor of ADHD is very much or unkown.. We brought to about a Study on the Oriental - medical pathologic Understanding about Inattention, Hyperactivity symptom in ADHD within Don yui bo gam Book are as follows. 1. Oriental medical pathologic concepts about Inattention, Hyperactivity are continuous with process of Yang Qi(陽氣), an unbalance of qi(氣) and shen ming(神明), excess of seven emotions(七情), pathology of Huo(火). 2. Immanent factors in inattention, Hyperactivity are improper diet, overtiredness and seven emotions, are continuous with pathological process of the heart, liver, gall bladder, spleen, stomach, kidneys. 3. In oriental medicine, considered as a child's qi of shao yang, dynamic physiological feature, excess and want of yin and yang, organs and bowels, immanently imbalance in growth rather than a child's mental disorder 4. Inattention, looseness in ADHD-PI type are continuous with forgetfulness, improper overtiredness, shortage of qi, the interior heat syndrome due to yin deficiency within Don yui bo gam Book 5. Hyperactivity, impulsive actions in ADHD-C type are continuous with sudden palpitation, severe palpitation, delirium, fidgeting due to deficiency, fidgetiness, hyperactivity of huo due to yin deficiency, fever, febrile disease with accumulation of blood.