• Annals of Clinical Neurophysiology
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• v.10 no.1
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• pp.52-57
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• 2008

Even though the origin and nature of nocturnal paroxysmal dystonia (NPD) remains unclear, it has been considered as a manifestation of the nocturnal frontal lobe epilepsy. We report a 17-year-old man with abnormal stereotyped movement during sleep. Video-EEG monitoring, ictal SPECT and night polysomnography did not show any evidence of epilepsy. However, the partial response to large dose of carbamazepine and the scoring according to the frontal lobe epilepsy and parasomnias (FLEP) scale suggest his events could be classified as epilepsy. Therefore we think the FLEP scale might be a useful tool for differential diagnosis in a patient presenting NPD.

• Journal of Korean Neurosurgical Society
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• v.57 no.6
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• pp.422-427
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• 2015

Moyamoya disease (MMD) is a chronic, progressive, cerebrovascular occlusive disorder that displays various clinical features and results in cerebral infarct or hemorrhagic stroke. Specific genes associated with the disease have not yet been identified, making identification of at-risk patients difficult before clinical manifestation. Familial MMD is not uncommon, with as many as 15% of MMD patients having a family history of the disease, suggesting a genetic etiology. Studies of single nucleotide polymorphisms (SNPs) in MMD have mostly focused on mechanical stress on vessels, endothelium, and the relationship to atherosclerosis. In this review, we discuss SNPs studies targeting the genetic etiology of MMD. Genetic analyses in familial MMD and genome-wide association studies represent promising strategies for elucidating the pathophysiology of this condition. This review also discusses future research directions, not only to offer new insights into the origin of MMD, but also to enhance our understanding of the genetic aspects of MMD. There have been several SNP studies of MMD. Current SNP studies suggest a genetic contribution to MMD, but further reliable and replicable data are needed. A large cohort or family-based design would be important. Modern SNP studies of MMD depend on novel genetic, experimental, and database methods that will hopefully hasten the arrival of a consensus conclusion.

• Korean Journal of Veterinary Research
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• v.48 no.3
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• pp.375-379
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• 2008

Hips of the Golden and Labrador retrievers in Korea were evaluated with the University of Pennsylvania Hip Improvement Program (PennHIP) and the severity of joint laxity and degenerative joint disease (DJD) were compared to the PennHIP database. The distraction index (DI) of domestic Golden and Labrador retrievers was significantly higher than the DI of the PennHIP database. In the two breeds, the prevalence of DJD increased according to the DI. However, the severity of DJD did not show a positive correlation with the DI. Overweight dogs and dogs kept indoors showed more severe DJD and more prevalence of clinical signs. This report is thought to be the first case presentation of a large population of Golden and Labrador retrievers in Korea and the findings are representing the overall level of canine hip dysplasia (CHD) of domestic Retrievers, as the PennHIP method was not available in Korea until 2001. We can respect that the stock of retrievers can have a tighter hip joint through control of CHD using an accurate diagnostic method keyed to a phenotype especially concern for joint laxity using PennHIP method and an organized screening program. The clinical manifestation of dysplastic dog can be reduced through control of bodyweight and the environment with regular monitoring the hips with concern for joint laxity using PennHIP method.

• Journal of Korean Medical classics
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• v.22 no.4
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• pp.39-42
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• 2009

Jeongji(情志) in Chinese medicine refers to a series of psychological activity which is expressed as hui(喜), no(怒), wu(優), sa(思), bi(悲), gong(恐), gyeong(驚), together with emotion, sentiment, and cognition, which are manifested as responses of the human body to environmental changes both inside and outside. Sa(思) is a major cognitive activity, and the other six emotions are main emotional activities. The emphasis on the interrelationship between cognition, sentiment, and emotional activity is a unique characteristic of the Jeongji(情志) concept in China. Jeongji[Mental] disorder refers to a series of diseases that has a close link between the attack, clinical presentation and emotional stimulation. The attack is deeply affected by emotional stimulation, with which physical symptoms are either present or absent. However, emotional changes are clear most of the time, their effect on disease development noticeable as well. To sum up, Jeongji[Mental] disorder is related to a wide range of medical problems in fields such as internal, surgical, gynecology, pediatrics, and various psychiatric disorders, not to mention contemporary psychological disorders, neurosis, and all kinds of mental illnesses of today. Moreover, the mental and physical disorders of today all share a common pathogenesis, clinical manifestation and treatment discipline. All the more reason for deeper professional research.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.18 no.2
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• pp.88-96
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• 2007

Pervasive developmental disorders are characterized by lifelong impairments in fundamental social and/or communication skills and by the presence of seemingly purposeless and repetitive behaviors, interests, or activities. A number of possible biological etiologies, including genetic, structural and functional brain abnormalities, have been identified in patients with pervasive developmental disorders. In addition, clinicians should take the possibility of comorbid psychiatric conditions into consideration when making the differential diagnosis of pervasive developmental disorders.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.7 no.1
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• pp.102-107
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• 2004

About 20% of intestinal tuberculosis have active pulmonary tuberculosis. Intestinal tuberculosis can develop by swallowing sputum which have active pulmonary tuberculosis and by ingestion of contagious milk. We report a case of intestinal tuberculosis complicated with pulmonary tuberculosis in a 15-year old aldelescent who could not cough out sputum because of known cerebral palsy. He was admitted because of 3 day history of fever and bloody stool. Chest PA showed both upper lobe consolidation. AFB stain and AFB PCR was positive for tuberculosis. Colon study showed abscence of haustral marking and lead pipe appearance due to stenosis of ascending colon and mucosal edema. Abdominal CT scan showed mild wall thickening in ascending colon. Despite the anti-tuberculosis therapy with first line drugs, fever accompanying pleural effusion developed. Second line drug with Isoniazid and Rifampin improved clinical manifestation. After the report on sensitivity, we readjusted the regimen, and clinical manifestations improved gradually.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.43-46
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• 2013

Adrenoleukodystrophy (ALD) is an X-linked disorder which has diverse constellation of clinical pictures, ranging from the severe childhood cerebral form to adrenocortical insufficiency without neurological manifestations. This disorder is caused by the mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein (ALDP), a transporter in the peroxisome membrane. ALD in most cases is inherited from one parent. Here, we report an incidentally identified sporadic case with ALD after traffic accident. He had adrenocortical insufficiency as well as abnormal findings in brain image. Genetic testing of ABCD1 gene revealed a previously reported mutation. With the description of clinical features of ALD in this patient, we discussed the difficulty in determining an appropriate therapeutic option for ALD patients with minimal neurological manifestation.

• The Korean Journal of Nuclear Medicine
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• v.19 no.2
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• pp.105-107
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• 1985

It is very difficult to check the severity and clinical course of the toxicity in snake bite patients by virtes of clinical manifestation and laboratory tests. And we observed the. findings of bone scan with 99mTc-MDP in two snake bite patients. First patient was bitten in the right ankle with local pain and swelling. The finding of bone scan of him was increased uptake of radionuclide in the soft tissue of right leg and thigh. Others were normal findings. Second patient was bitten in the right hand. But his symptom was severe and he complained local pain and swelling, nausea, blurred vision, and oliguria. The bone scan findings of second patient was; Increased uptake of radionuclide in the soft tissue of whole body. Decreased uptake in the bone tissue. Renal outline was not delineated. Follow up study 10 days after, revealed more improved findings in the scan.

• Pediatric Infection and Vaccine
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• v.2 no.2
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• pp.200-206
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• 1995

Myocarditis refers to inflammation, necrosis, or myocytolysis that may be due to many infectious, connective tissue and many other causes affecting the myocardium or involvement of the endocardium or pericardium. The most common manifestation is congestive heart failure, although arrhythmias and sudden death may be the first sign of myocarditis. Viral myocarditis is typically a sporadic but occasionally epidemic illness, noted as an acute potentially fulminant disease of 1-to 4-wk-old infants, as an acute but more benign myopericarditis of toddlers and young children. The most common casuative agent in viral myocarditis is Coxsackievirus and the outcome of the biopsy-proven chronic dilated cardiomyopathy associated with Coxsackievirus is poor without therapy. Myocarditis may be confirmed by percutaneous endomyocardial biopsy and the viral myocarditis may be diagnosed by the serological viral study with the clinical manifestations. He was admitted for the management of tachyarrhythmias occurred suddenly without prodromal symptoms and signs and diagnosed as viral pancarditis by serological Coxsackievirus study, echocardiogram, chest x-ray, EKG and other clinical manifestations.

• Journal of Chest Surgery
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• v.28 no.12
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• pp.1132-1138
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• 1995

From 1991 to 1994, we experienced 24 cases of neonatal pneumothorax who were admitted to the Neonatal Intensive Care Unit[NICU , Chosun University Hospital. The Following results were obtained.1 The incidence of neonatal pneumothorax was 0.70%, and there were 8 spontaneous pneumothoraces and 16 secondary pneumothoraces. 2 The clinical manifestation of neonatal pneumothorax was as followed. Male infant was dominant[M:F=2:1 , the onset was within 24 hours in the majority[83% , and the right side[62% was more frequent than the left side. The gestation duration and birth weight show no correlation with underlying neonatal pneumothorax. The pulmonary diseases were meconium aspiration syndrome and hyaline membrane disease, and the incidence of those was 58%. Meconium aspiration syndrome occurred earlier than hyaline membrane disease. Symptoms and signs were tachypnea[46% , cyanosis[21% , irritability[13% , chest retraction[8% and apnea[8% .3 The treatments performed were oxygen therapy[17% , thoracentesis[4% and closed thoracostomy with underwater seal drainage[79% . The Mean duration of air leakage was 11.7 hours, and the mean drainage time was 4.35$\pm$1.3day. 4 The overall hospital mortality was 33%, and the rate of complication was 46%. The complications were metabolic acidosis, atelectasis, pleural effusion, pulmonary hemorrhage and pneumonia. We concluded that the prognosis was related to the underlying pulmonary disease.