• Korean Journal of Biological Psychiatry
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• v.14 no.3
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• pp.184-193
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• 2007

Objectives:There is increasing evidence that the cerebellum plays an important role in cognition and psychiatric symptoms as well as motor coordination. The concept of cognitive dysmetria has been making cerebellar function in schizophrenia the focus of current studies. In other words, disruption in the corticocerebellum-thalamic -cortical circuit could lead to disordered cognition and clinical symptoms of schizophrenia. The purposes of this study were to determine cerebellar dysfunction in male schizophrenic patients semiquantitatively with ICARS and to investigate the clinical and cognitive correlates of ICARS in patients. Methods:We compared the scores of cerebellar neurologic sign using ICARS in 47 male patients with a DSM-IV-TR diagnosis of schizophrenia with 30 gender and age-matched healthy control subjects. The semiquantitative 100-point ICARS consists of 19 items divided into 4 unequally weighted subscores:posture and gait disturbances, kinetic functions, speech disorders and oculomotor disorders. All subjects were also assessed with cognitive function test. Cognitive functions were evaluated by Korean-Mini Mental Status Examination (K-MMSE), Verbal fluency test, and Clock drawing test. The patients were administered Korea version of Positive and Negative Symptom Scale(K-PANSS) to assess the symptom severity. Results:Schizophrenic patients had significantly higher scores on the ICARS than control subjects with posture and gait disturbances, kinetic functions, and oculomotor disorders. They also showed more significant impairments in cognitive function tests than control subjects. There was a significant correlation between ICARS and negative symptoms of patients. In cognitive function test, Clock drawing test was significantly associated with negative symptoms. In addition, Clock drawing test was negatively correlated with the total score of ICARS. Conclusion:In this study, we confirmed that schizophrenic patients have significant impairments in cognitive and cerebellar function, and that those were related with negative symptoms of schizophrenic patients. These results support a role of the cerebellum in schizophrenia. It is meaningful that we used a structured, and reliable procedure for rating neurological soft signs, ICARS. We hope that future prospective studies using a similar design help that rate of neurological sign should have been visible with the progression of illness.

• Journal of Chest Surgery
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• v.29 no.11
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• pp.1218-1222
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• 1996

The reported incidence of postcardiotomy cardiogenic shock not responding to conventional therapy is still 0.1 to 0.8%. For this group of patients, more aggressive form of circulatory support must be employed. Centrifugal pumps are a ventricular assist device most commonly used on this purpose, due to low cost and easy availability. Currently, however, clinical experience of centrifugal pumps as a ventricular assist device is rarely reported in Korea. From January 1992 to January 1996, 2986 patients underwent cardiac operations on cardiopulmonary bypass at Seoul National University Hospital. Refractory postcardiotomy cardiac failure requring ventricular support with a Biomedicus centrifugal pump developed in ten of these patients. There were eight men and two women, ranged in age from nine years to 77 years with a mean of 50$\pm$20 years. The primary surgical procedures consisted of isolated coronary revascularization in four patients, combined coronary revascularization and aortic valve replacement in two, aortic dissection repair in two, pulmonary embolectomy in one, and heart transplantation in one. Of the ten patients, five had left ventricular assistance, one had right ventricular assistance, and four had biventricular assistance. Duration of ventricular assistance ranged from 24 to 175 hours, with a mean of 76$\pm$51 hours. Seven patients were weaned from ventricular assistance, and four of them discharged. The causes of death for nonsurvivors were progressive cardiac failure in two patients and multiorgan failure, intractable ventricular fibrillation, irreversible brain injury, and mechanical problem, respectively, in the other four. Survival was not predicted by time on cardiopulmonary bypass, aortic cross-clamp time, or duration of ventricular support. Major complications included bleeding(7), renal failure(6), infection(3) and neurologic complication(2). These results indicate that a centrifugal pump can provide reasonably satisfactory short-term circulatory support.

• Journal of Chest Surgery
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• v.35 no.6
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• pp.430-438
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• 2002

It is known that low birth weight is a risk factor for poor outcome in cardiac surgery for many cardiac defects. We reviewed our recent surgical experiences on congenital heart defect (other than patent ductus arteriosus) in low birth weight babies. Material and Method: From September 1994 to February 2001, 31 consecutive infants weighing 2500 g or less underwent cardiac surgery with (OHS group n=12) or without cardiopulmonary bypass (CHS group n=19). A retrospective study was carried out to evaluate short-and intermediate-term outcome. Mean gestational age and age at operation were 36.9 weeks(range, 32.3-42weeks) and 32.1days (range, 0-87days) respectively. Mean body weight at birth and operation were 1972g (range, 1100-2500g) and 2105g (range, 1450-2500 g) respectively. There was no difference between the two groups in age and body weight. Defects included ventricular septal defect (VSD) (n=3), VSD with arch anomaly (n=2), total anomalous pulmonary venous return (n=2), transposition of the great arteries (TGA) (n=2), truncus arteriosus (n=2), and univentricular heart with cor triatriatum (n=1) in OHS group, and coarctation of aorta (n=7), tetralogy of Fallot (TOF) (n=3), TOF with pulmonary atresia (n=3), multiple muscular VSDs (n=1), double outlet right ventricle (n=1), pulmonary atresia with intact ventricular septum (n=2), tricuspid atresia (n=1), and TGA with multiple VSD (n=1) in CHS group. 13 patients (41.9%) were intubated pre-operatively. Result: There were 4 early deaths(＜30 days); 1 (8.3%) in OHS group and 3 (15.8%) in non-OHS group. All these early deaths were related to the pulmonary artery banding(PAB). There was no operative mortality in infants undergoing complete repair and palliative operations other than PAB. Delayed sternal closure was required in 3 patients. Prolonged postoperative mechanical ventilation (>7 days) was required in 7 patients(58.3%) in OHS and 7(38.8%) in CHS group. Late mortality occurred in 3 patients, two of which were non-cardiac. A patient in OHS group was documented to have neurologic sequelae. All the survivors except two are in NYHA class 1. Conclusion: Complete repair and palliative operations other than PAB can be performed in low birth weight infants with low operative mortality and an acceptable intermediate-term result. However, about a half of the patients required long-term postoperative mechanical ventilation.

• Journal of Chest Surgery
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• v.33 no.12
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• pp.941-947
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• 2000

Background: Central nervous system complication after coronary artery bypass grafting(CABG) is one of the major prognostic determinants and the use of the cardiopulmonary bypass(CPB) may increase the incidence of this devastating complication. In this study, the outcomes after off-pump CABG were studied and compared with those following the conventional CABG using CPB. Material and Method: Among the consecutive isolated CABG's performed in SNUH during Feb. 1995 and Jun. 1999, 338 coronary artery bypass grafting were divided into two groups. 223 patients underwent CABG using the CPB(Group I), and 115 patients underwent CABG without CPB(OPCAB)(Group II). All patients enrolled in this study received extensive preoperative examinations including thorough neurologic examination before and after surgery, transcranial doppler study, carotid duplex ultrasonography, and magnetic resonance angiography if necessary. Central nervous system(CNS) complications were defined as stroke, seizure, metabolic or hypoxic encephalopathy and transient delirium after surgery. Result: There were 61 cases(27.3%) who developed postoperative CNS complication in Group I, whereas 8 cases(7.0%) of CNS complications developed postoperatively in group II(p<0.05). Statistically significant predictors of postoperative CNS complications in group I were age and the use of cardiac assist devices perioperatively. Conclusion: This study suggested that omitting the use of CPB in CABG resulted in significant decrease of the postoperative CNS complications. OPCAB should be more widely applied especially to the elderly who have preexisting cerebrovascular disease.

• The Journal of Internal Korean Medicine
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• v.18 no.2
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• pp.268-295
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• 1997

Sweating is natural phenomenon necessary for the regulation of an individual's body-temperature. The secretion of sweat is mediated by a portion of our vegetative nervous system(the sympathetic nervous system). In some people, this system is working at a very high activity level, far higher than needed to keep a constant temperature. This condition is referred to as hyperhidrosis. Especially excessive sweating of the hands and the feet is palmoplantar hyperhidrosis or volar hyperhidrosis. This is by far the most distressing condition. It was founded that the first important cause of this was emotional factor. The hands are much more exposed in social and prefessional activities than any other part of our body. Many individuals with palmoplantar hyperhidrosis are limited in their choice of proffession, because unable to manipulate materials sensitive to humidity or reluctant to shake hands; some patients arrive to the point to avoid social contact. The occidental medical treatments for palmoplantar hyperhidrosis include application of topical agents(chemical antiperspirants such as aluminum chloride), iontophoresis(treatment with electrical current), or surgery(thoracic sympathectomy). It was reported that the most effective treatment was thoracic sympathectomy. So this study was started to find the easy and effective oriental medical treatments against the occidental medical treatments through the oriental medical literature. The occidental medical idea for palmoplantar hyperhidrosis is only limited in neurologic system, so surgery is the best treatment. But the oriental medical idea for palmoplantar hyperhidrosis is much wider, so the oriental medical causes and treatments for this are able to be veriety. And the oriental medical teatment is freely in treating the patients of palmoplantar hyperhidrosis, because entire idea including pulse, facial color, mental condition, constitution and other symptom exists in the oriental medicine. The results of a bibliographic study of causes and treatments for palmoplantar are as follows; 1. The main causes of pa1moplantar hyperhidrosis are heat in the stomach, damp-heat in the spleen and the stomach, insufficiency of the spleen-qi and the stomach-qi, deficiency of the spleen-yin and the stomach-yin, and the others are the stomach-cold syndrome, stasis of blood and dyspepsia in the stomach, disorder of the liver-qi, deficiency of the heart-yin and the kidney-yin, deficiency of the heart-yang and the kidney-yang, stagnated heat in the liver and the spleen, the lung channel-heat etc. 2. The main methods of medical treatments for palmoplantar hyperhidrosis are clearing out the stomach-heat, eliminating dampness and heat in the spleen and the stomach, invigorating the spleen-qi and the stomach-qi, reinforcing the spleen-yin and the stomach-yin, warming the stomach, relaxing the liver and alleviating of mental depression and tonifying the heart and the kidney etc. 3. The main prescriptions of palmoplantar hyperhidrosis are Taesihotang, Palmultang-kakam, Samyeongbaechusan, Chongbisan, Sasammaekmundongtang, the others are Leejungtang, Hwangkikonjungtang, Seungkitang, Boyumtang, Baekhotang, Chongsimyonjayum, Moyrosan, etc. 4. Local medicine for external use are liquid after boiling alum in water for about 1 or 2 hours, liquid after boiling alum and pueraria root in water and liquid after boiling stragalus root, pueraria root, ledebouriella root and schizonepeta in water, etc. 5. The methods of acupuncture therapy include invigorating Bokyru, Yumkuk and purgating Hapkouk, or invigorating Bokyru, Kihae and purgating Hapkouk, or steadying Hapkouk, Nokung.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.38-44
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• 2007

Purpose : Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type AT Pase. The phenotypic features are progressive neurological degeneration, mental retardation, loose skin, and vascular complications. Early diagnosis and treatment are very important for the prognosis of Menkes disease. Here, we describe nov el mutations of the ATP7A gene and prenatal diagnosis by mutation analysis. Methods : Five unrelated Korean Menkes patients were included in this study. They presented with depigmented wool-like hair, progressive neurologic deterioration, and hypotonia in infancy. Serum copper and ceruloplasmin levels w ere decreased. Brain magnetic resonance imaging revealed tortuous intracranial vessels. Mutation analysis has been carried out using cDNA from cultured skin fibroblasts or genomic DNA from peripheral leukocytes. Prenatal diagnosis was performed in two cases using chorionic villi samples or amniocytes. Results : Four novel mutations have been identified from four different families; c.3511+1G>A (p.E1099_N1171delinsMfsX 18), c.4005+5 G>A (p.V1268_R1335del), c.1870_2172del (p.S624_Q724del), and c.3352 G>A (p.G1118S). T he remaining one was previously reported (c.1933 C>T (p.V 1268_R1335del)). On prenatal DNA analysis, one w as diagnosed as normal, while the other turned out to be a female heterozygote with p.S624_Q724del mutation of the ATP7A gene. Conclusion : We identified 4 novel mutations of the ATP7A gene. Prenatal diagnosis in families at risk is critical in order to choose preventiv e options including an early treatment with copper-histidine therapy or therapeutic termination. Most mutations of the ATP7A gene were frame-shift mutations and prenatal diagnosis has been successfully carried out.

• Allergy, Asthma & Immunology Research
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• v.10 no.6
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• pp.648-661
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• 2018

Purpose: Pollen-food allergy syndrome (PFAS) is an immunoglobulin E (IgE)-mediated allergy in pollinosis patients caused by raw fruits and vegetables and is the most common food allergy in adults. However, there has been no nationwide study on PFAS in Korea. In this study, we investigated the prevalence and clinical characteristics of PFAS in Korea. Methods: Twenty-two investigators participated in this study, in which patients with allergic rhinoconjunctivitis and/or bronchial asthma with pollen allergy were enrolled. The questionnaires included demographic characteristics, a list of fruits and vegetables, and clinical manifestations of food allergy. Pollen allergy was diagnosed by skin prick test and/or measurement of the serum level of specific IgE. Results: A total of 648 pollinosis patients were enrolled. The prevalence of PFAS was 41.7% (n = 270). PFAS patients exhibited cutaneous (43.0%), respiratory (20.0%), cardiovascular (3.7%) or neurologic symptoms (4.8%) in addition to oropharyngeal symptoms. Anaphylaxis was noted in 8.9% of the PFAS patients. Seventy types of foods were linked to PFAS; e.g., peach (48.5%), apple (46.7%), kiwi (30.4%), peanut (17.4%), plum (16.3%), chestnut (14.8%), pineapple (13.7%), walnut (14.1%), Korean melon (12.6%), tomato (11.9%), melon (11.5%) and apricot (10.7%). Korean foods such as taro/taro stem (8.9%), ginseong (8.2%), perilla leaf (4.4%), bellflower root (4.4%), crown daisy (3.0%), deodeok (3.3%), kudzu root (3.0%) and lotus root (2.6%) were also linked to PFAS. Conclusions: This was the first nationwide study of PFAS in Korea. The prevalence of PFAS was 41.7%, and 8.9% of the PFAS patients had anaphylaxis. These results will provide clinically useful information to physicians.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.19 no.1
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• pp.20-25
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• 2019

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessively inherited metabolic disorder of mitochondrial long-chain fatty acid oxidation. The clinical features of VLCAD deficiency is classified by three clinical forms according to the severity. Here, we report a case of later-onset episodic myopathic form of VLCAD deficiency whose diagnosis was confirmed by plasma acylcarnitine analysis and" multigene panel multigene panel sequencing. A 34-year old female patient visited genetics clinic for genetic evaluation for history of recurrent myopathy with intermittent rhabdomyolysis. She suffered first episode of rhabdomyolysis with acute renal failure requiring hemodialysis at twelve years old. After then, she suffered several times of recurrent rhabdomyolysis provoked by prolonged exercise or fasting. Physical and neurologic exam was normal. Serum AST/ALT and creatinine kinase (CK) levels were mildly elevated. However, according to her previous medical records, her AST/ALT, CK were highly elevated when she had rhabdomyolysis. In suspicion of fatty acid oxidation disorder, multigene panel sequencing and plasma acylcarnitine analysis were performed in non-fasting, asymptomatic condition for the differential diagnosis. Plasma acylcarnitine analysis revealed elevated levels of C14:1 ($1.453{\mu}mol/L$; reference, 0.044-0.285), and C14:2 ($0.323{\mu}mol/L$; 0.032-0.301) and upper normal level of C14 ($0.841{\mu}mol/L$; 0.065 -0.920). Two heterozygous mutation in ACADVL were detected by multigene panel sequencing and confirmed by Sanger sequencing: c.[1202G>A(;) 1349G>A] (p.[(Ser 401Asn)(;)(Arg450His)]). Diagnosis of VLCAD deficiency was confirmed and frequent meal with low-fat diet was educated for preventing acute metabolic derangement. Fatty acid oxidation disorders have diagnostic challenges due to their intermittent clinical and laboratorial presentations, especially in milder late-onset forms. We suggest that multigene panel sequencing could be a useful diagnostic tool for the genetically and clinically heterogeneous fatty acid oxidation disorders.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.23 no.1
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• pp.25-30
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• 2023

Leigh syndrome is a rare progressive neurodegenerative mitochondrial disorder with clinical and genetic heterogeneity. Recently, balletic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes from Leigh and West syndrome to a rare syndrome CAGSSS characterized by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome (OMIM#616007). We describe a child with Korean Leigh syndrome with urologic manifestations resulting from a compound heterozygote mutation in IARS2. A 5-year-old girl visited the emergency room with a complaint of abdominal pain accompanied by abdominal distension. Abdominal-pelvic CT showed a markedly distended urinary bladder without definite obstructive lesions. She was diagnosed with neurogenic bladder dysfunction based on a urodynamic study. She had global delayed development due to neurologic regression after 6 months of age and a history of bilateral cataract surgery at the age of 2 years. Her brain magnetic resonance imaging showed symmetrically increased signal intensities in the bilateral putamen and caudate nuclei with diffuse cerebral atrophy. No gene variants were identified through whole-mitochondrial genome analysis. Whole exome sequencing was performed for diagnosis, and compound heterozygous pathogenic variants were identified in IARS2: c.2446C>T (p. Arg816Ter) and c.2450G>A (p. Arg817His). To the best of our knowledge, this is the first case report of bladder dysfunction manifestation in a patient with IARS2-related Leigh syndrome. Thus, it broadens the clinical and genetic spectrum of IARS2-associated diseases.

• Journal of Nutrition and Health
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• v.41 no.7
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• pp.621-633
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• 2008

Diabetes mellitus (DM) is a well-established independent risk factor for cerebral infarction (CI). Additionally, the DM as well as CI are influenced significantly by health-related behaviors and diets. The aim of this study was to compare the food habits, nutrient intakes, and dietary patterns and quality in DM patients with CI (DM-CI) and without CI. This study was accomplished with 68 subjects (DM-CI group = 28, DM group = 40). Health-related behaviors, food habits, nutrient intakes and dietary quality were investigated. As a result, the mean ages and durations of diabetes in DM-CI and DM groups were $65.6{\pm}9.2$, $10.9{\pm}8.5$ and $69.2{\pm}3.0$, $9.7{\pm}8.4$ years, respectively. The health-related behaviors such as, smoking, alcohol drinking, and regular exercising in both groups were significantly different (p < 0.05) showing the number of subjects who were smoking and drinking alcohol was significantly higher in DM-CI group and the opposit result was seen for exercise. In male subjects, the intake of carbohydrate and sodium of DM-CI group were significantly higher than those of DM group (p < 0.05). In female subjects, the intake of calorie, carbohydrate, fat, sodium, and cholesterol were significantly higher in the DM-CI group (p < 0.05). Daily intake of vitamin $B_1$, vitamin $B_2$, folate, vitamin C, and calcium were significantly higher in DM group (p < 0.05). In the comparison with the dietary reference intake for Koreans (KDRI), vitamin $B_1$, vitamin $B_2$, folate, and calcium intakes were lower in DM-CI group whereas calcium and zinc intakes were in DM group. Moreover, index of nutritional quality (INQ) of vitamin $B_1$, vitamin $B_2$, vitamin C, folate, and calcium were lower significantly in DM-CI group (p < 0.05). Dietary quality including dietary diversity score (DDS), GMVDF (grain, meat, vegetable, dairy, fruit), and dietary quality index (DQI) was significantly lower in DM-CI group (p < 0.05). According to the results, diabetic mellitus patients accompanied by cerebral infarction had poorer eating patterns and dietary quality in accordance with poorer health-related behaviors compared with the DM patients without CI.