Journal of The Korean Society of Inherited Metabolic disease
/
v.16
no.2
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pp.79-85
/
2016
Purpose: This study aimed to analyze genetic mutations, clinical manifestations, and treatment of patients with benign HPA in Korea. Methods: This case series study involved ten HPA patients who were referred to our hospital because of high phenylalanine concentration. We investigated their demographic features, clinical manifestations, and mutations of the PAH gene through direct DNA sequencing. Results: Among ten patients with benign HPA, two pairs of patients were related (father-daughter, mother-daughter relationship) cases, and all of them showed no specific clinical manifestations or notable past history. Their plasma phenylalanine levels ranged between 1.2 and 4.2 mg/dL. In the tetrahydrobiopterin (BH4) loading test, all patients were nonresponsive to BH4. In the confirmation test of PAH mutation analysis, we identified eleven different alleles out of twelve. The most common allele was R53H (c.158G> A). In addition, two novel PAH gene mutations, V423A (c.1268T>C) and V51A (c.152T>C), were identified. Although the patients did not receive any pharmacologic treatment or continuous phenylalanine restriction dietary therapy, their neurocognitive development was normal. Moreover, on serial outpatient follow-up tests, all patients maintained phenylalanine levels below 6 mg/dL. Conclusion: This study is the first in Korea to analyze benign HPA patients. All patients with benign HPA could maintain phenylalanine levels below 6 mg/dL with normal neurocognitive development, without continuous therapy. Therefore, performing mutation analysis and distinguishing benign HPA from phenylketonuria (PKU) are important to help improve life quality in patients with benign HPA by avoiding unnecessary lifelong therapy.
From March, 1992 to March, 1996, a total of 279 patients underwent coronary bypass surgery at the Sejong General Hospital, Puchon. We selected 22 patients with severe left ventricular(LV) dysfunction from them. The criteria were the presence of global or segmental abnormalities of left ventricular contraction and LV ejection fraction(EF) less than 35% based on biplane LV angiography by planimetry method. The mean age of 17 male and 5 female patients was 60$\pm$5.6years(range:47~73 years). All had the anginas, which were Canadian class II in 6, class 111 in 12 and class IV in 4. All patients except one had the history of previous myocardial infarction more than once. Seven of them had the symptoms and signs of congestive heart failure, such as dyspnea on excertion and increased pulmonary vascular markings. Their mean LVEF was 29.4$\pm$4 5%(range : 18~35%) and mean LV end-diastolic pressure was 18.7 $\pm$8. 2mmHg(range:10~42mmHg). 21 patients had 3 vessel-disease and 1 had 2 vessel-disease. Complete revascularization was tried with the use of 16 internal mammary arteries and 60 sapheuous veins and 3 radial arteries grafts. The mean number of distal anastomosis was 3.5$\pm$ 1.1. Concomitantly, one mitral valvuloplasty and annuloplasty was performed in the patient with moderate mitral regurtigation. The hospital mortality was 4.5%. During the follow-up, there were 3 late deaths. Of 18 survivors, 2 patients were lost in follow-up 24 and 27 month respectively after operation and the remaining 16 patients have bcen followed up with an average of 30.4 $\pm$ 13.4 months.15 patients had improvement with respect to angina but 8 patients still have the continuing or progressing heart failure. The 1-year, 2-year and 3-year actuarial survival rate was 85.2, 69.1, 46.1%, respectively. This study indicates that coronary artery bypass sur ery can be performed in the patients with severe LV dysfunction at acceptable risk but does not greatly contribute to the improvement of congestive heart failure.
Kim, Yun-Jin;Min, Hong-Gi;Kim, Young-Joo;Jeon, Ah-Young;Jeon, Gye-Rok;Ye, Soo-Young
Journal of Life Science
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v.17
no.2
s.82
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pp.218-222
/
2007
The purpose of this study is to evaluate the relationship between high sensitive C-reactive protein (hsCRP) and pulse transit time (PPT). Apparently healthy 233 subjects had been enrolled in the health promotion center of the Pusan National University Hospital from Jan. 29 to Feb. 26, 2004. They had no previous history of diabetes, hypertension and hyperlipidemia. Subjects were categorized according to tertiles of hsCRP level [Group 1: first tertile $(0.01\;{\sim}\;0.02\;mg/dl)$, Group 2: second tertile $(0.03\;{\sim}\;0.05\;mg/dl)$, Group 3: third tertile $(0.06\;{\sim}\;0.12\;mg/dl)$, and Group 4: Fourth tertile $(0.13\;{\sim}\;16.8\;mg/dl)$]. PTT body mass index (BMI), total cholesterol (T-C), LDL-cholesterol(LDL-C), blood sugar (BS), systolic blood pressure (sBP) and diastolic blood pressure (dBP) were significantly different among hsCRP groups (p<0.05). HsCRP is positively related with BMI, tryglyceride (TG), LDL, sBP and dBP (p<0.05), and negatively related with PTT and HDL-cholesterol (HDL-C) (p<0.05). PTT is significantly negatively related with hsCRP, T-C, TG, LDL-C, BS, dBP and sBP (p<0.05). The hsCRP and PTT were related before controlling BMI, T-C, LDL-C, sBP, and dBP, but not related after conkolling. The relationship between hsCRP and PTT depends on cardiovascular disease risk factors.
Purpose: We analyzed the clinicopathologic features, including treatment and outcome, and the survival rates between young and elderly patients with gastric cancer. Materials and Methods: Clinical information was reviewed for 1086 patients who had undergone a gastrectomy for gastric cancer during a 10-year period from 1990 to 1999, and the patients were assigned to one of two groups: the A group (<40 years of age, 91 patients) and the B group (${\geq}70\;years\;of\;age,\;85\;patients)$). Results: Compared to the B group, the A group had more females (47.3% vs 32.9%), a greater frequency of family history of cancer (15.4% vs 3.5%), and greater proportions of histologically poorly differentiated tumors (84.5% vs 40.2%) and Lauren diffuse-type tumors (69.1% vs 35.1%)(P<0.05). There was no difference in TNM stage. Cardiopulmonary co-morbidities were more in the B group, respectively, 1.1% (A group) and 11.8% (B group)(P<0.01), but the morbidity and the mortality were similar. Although there was no difference in curability, the B group underwent less aggressive operations in lymph-node dissection above D3 and had a shorter operation time, a smaller number of retrieved lymph nodes, and less adjuvant chemotherapy (P<0.001). However, there were no differences in the disease-specific 5-year survival rates, 67.6% and 67.0% respectively. Conclusion: Young and elderly patients with gastric cancer had different clinicopathological features. Especially, elderly patients underwent relatively less aggressive treatment. In spite of these facts, the outcome of treatment and the disease-specific survival rates were not different.
Journal of the Korean Institute of Landscape Architecture
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v.41
no.1
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pp.44-50
/
2013
The persons in charge of management request diagnosis and prescription to tree hospitals in order to get consultation about the problems like blight that occur in landscape tree management. This study aims to analyze what the main problems and questions raised by landscape gardeners are and those concerned in landscape tree management. This is done by investigating landscape tree-related questions and answers uploaded on the online consultation boards of the plant diagnostic centers approved in Korea including the Seoul National University Plant Clinic, the Chungbuk National University Plant Hospital, and the Kangwon Diagnostic Center. As a result, those concerned in landscape occupied the most as 81.4% among the questioners. However, only 11.5% did explain the plant management history or surrounding environment, which is essential for landscape tree diagnosis when asking questions. This shows that those concerned in landscape lack basic knowledge or interest about plant diagnosis. Among 263 questions about landscape trees, questions about physiological damage included 94 cases that were the most taking up 35.8%. Moreover, the next were damage by insects and damage by disease in order. It is thought that due to the characteristics of physiological problems that occur by various sorts of stress and with no signs, they tend to request diagnosis or prescription the most. The most frequent reasons for physiological damage are water stress and temperature stress. About damage by disease, there exist many types of diseases, and there are many complex damages accompanied by physiological causes. About damage by insects, the most common include damage by moths. In consideration of this result, universities or technician training centers should provide education for landscape tree management so that landscape technicians and students can acquire essential knowledge and information about landscape tree management and increase their interest in it. In particular, it is necessary to provide profound learning opportunities for plant physiology, and the technicians should make efforts themselves. In addition, it is needed to build organizations to which they can ask technical questions about landscape planting and management in order to understand landscape industry in general and the actual status of landscape planting technique and the actual field. Moreover, to elevate systemicity and expertise in the area of landscape tree management not yet equipped with the foundation, it is needed to cultivate the technicians intensively and conduct research by those concerned both in academic and industrial circles.
Purpose : We compared the underlying or associated diseases according to the frequency of platelet transfusions in neonates with thrombocytopenia to know the factors predicting which patients will require multiple platelet transfusions. We also compared mortality. Methods : A retrospective study was performed in 72 neonates who received the platelet transfusions in neonatal intensive care unit(NICU) between August 1996 and July 2001. Group I received one platelet transfusion and group II received two or more. We compared the frequency of underlying or assodiated diseases such as sepsis/disseminated intravascular coagulopathy(DIC), respiratory distress syndrome(RDS), intraventricular hemorrhage(IVH), patent ductus arteriosus (PDA), necrotizing enterocolitis(NEC), liver or renal disease, and mortality between two groups. Results : Of the 72 patients, 29(40.2%) received one and 43(59.7%) received two or more transfusions; 16(22.2%) received four or more. There were no statistically significant differences in gestational age, birth weight, sex, and maternal history between two groups. C-section rate was higher in group II(20.7% vs. 55.8%, P<0.05) and the incidence of PDA was higher in group I (55.2% vs. 30.2%, P<0.05). Otherwise, there were no statistically significant differences in the incidence of sepsis/DIC, RDS, IVH, RDS, CLD, NEC, liver or renal disease, pulmonary hemorrhage and hypoxic ischemic encephalopathy, and mortality between group I and group II. Conclusion : There was no significant difference in clinical morbidity and mortality according to the frequency of platelet transfusion in neonates with thrombocytopenia. Further study is needed to know the predicting factor for multiple platelet transfusions in neonates with thrombocytopenia.
Most terminally ill cancer patients experience various physical and psychological symptoms during their illness. In addition to pain, they commonly suffer from fatigue, anorexia-cachexia syndrome, nausea, vomiting and dyspnea. In this paper, I reviewed some of the common non-pain symptoms in terminally ill cancer patients, based on the National Comprehensive Cancer Network (NCCN) guidelines to better understand and treat cancer patients. Cancer-related fatigue (CRF) is a common symptom in terminally ill cancer patients. There are reversible causes of fatigue, which include anemia, sleep disturbance, malnutrition, pain, depression and anxiety, medical comorbidities, hyperthyroidism and hypogonadism. Energy conservation and education are recommended as central management for CRF. Corticosteroid and psychostimulants can be used as well. The anorexia and cachexia syndrome has reversible causes and should be managed. It includes stomatitis, constipation and uncontrolled severe symptoms such as pain or dyspnea, delirium, nausea/vomiting, depression and gastroparesis. To manage the syndrome, it is important to provide emotional support and inform the patient and family of the natural history of the disease. Megesteol acetate, dronabinol and corticosteroid can be helpful. Nausea and vomiting will occur by potentially reversible causes including drug consumption, uremia, infection, anxiety, constipation, gastric irritation and proximal gastrointestinal obstruction. Metoclopramide, haloperidol, olanzapine and ondansetron can be used to manage nausea and vomiting. Dyspnea is common even in terminally ill cancer patients without lung disease. Opioids are effective for symptomatic management of dyspnea. To improve the quality of life for terminally ill cancer patients, we should try to ameliorate these symptoms by paying more attention to patients and understanding of management principles.
Background : Coronary artery bypass graft(CABG) in patients with advanced left ventricular dysfunction has often been regarded as having high mortality rate, despite the great improvement in operative result of CABG. With recent advances in surgical technique and myocardial protection, surgical revascularization improved the symptom and long-term survival of these high risk patients more than the medical conservative treatment. Material and Methold : Clinical data of 31(4.1%) patients with preoperative ejection fraction less than 30% among 864 CABGs performed between January 1995 and March 1999 were retrospectively analyzed and pre- and postoperative changes of the ejection fraction on echocardiography were analyzed. There were 26 men and 5 women. The mean age was 60.7 years(range 41 to 72 years). History of myocardial infarction(30 cases, 98%) was the most common preoperative risk factor. There were seven irreversible myocardial infarction on thallium scan. Most patients had triple vessel diseases(26 cases, 84%) and first degree of Rentrop classification(16 cases, 52%) on coronary angiography. The mean number of distal anastomosis during CABG was per patient was 4.9${\pm}$0.8 sites in each patient. In addition to long saphenous veins, the internal mammary artery was used in 20 patients. Total bypass time was 244.7${\pm}$3.7 minutes(range, 117 to 567 minutes), and mean aortic cross-clamp time was 77.9 ${\pm}$ 1.6 minutes(range, 30 to 178 minutes). There were five other reparative procedures such as two left ventricular aneurysrmectomy, two mitral repair, and one aortic valve replacement. There were twelve postoperative complications such as three cardiac arrhythmia, two bleeding(re-operation), one delayed sternal closure, eleven usage of intra-aortic balloon counterpulsation for low cardiac output. Two patients died, postoperative mortality was 6.5% . Twenty-nine patients were relieved of chest pain and left ventricular ejection fraction after operation was significantly higher(38.5${\pm}$11.6%, p 0.001) as compared with preoperative left ventricular ejection fraction(25.3${\pm}$2.3%). The follow up period of out patient was 25. 3 months. Conclusion: In patients with coronary artery disease and advanced left ventricular dysfunction, coronary artery bypass grafting can be performed relatively safely with improvement in left ventricular function, but it will be necessary to study long term results.
Purpose : The objective of this study was to establish the serum IGF-1 level in newborn infants, and investigate its association with growth and diseases. Methods : In a retrospective study, serum IGF-1 levels were measured for newborn infants admitted to NICU at Kyungpook University Hospital from March 2007 to July 2007. Birth data, disease history, and hospital course were obtained from medical records. Results : Of 52 blood samples obtained at birth, serum IGF-l levels in 30 preterm infants ($31.6{\pm}27.3$ ng/mL) were lower than in 22 full-term infants ($53.4{\pm}40.0$ ng/mL; P<0.05). In sick full-term infants, serum IGF-1 levels ($46.0{\pm}40.2$ ng/mL) were lower than in healthy full-term infants ($64.1{\pm}39.5$ ng/mL; P<0.05). In preterm infants, there were no differences in IGF-1 levels between healthy ($33.2{\pm}23.3$ ng/mL) and sick infants ($30.6{\pm}30.4$ ng/mL); however, IGF-1 levels in both sick and healthy preterm infants were lower than in healthy full-term infants. Among infants admitted after 8 days of life, serum IGF-1 levels were higher in infants who gained weight ($70.8{\pm}36.2$ ng/mL) than in infants who lost weight ($13.3{\pm}19.9$ ng/mL; P<0.01); however IGF-1 levels showed no difference between gender or method of delivery. Conclusion : The study showed lower IGF-l levels in preterm infants than in full-term infants. Additionally, the IGF-l level in infants with weight loss was lower than in infants with weight gain. These results indicate that serum IGF-1 is associated with gestational age and postnatal growth.
Purpose : We'd like to determine the incidence of congenital heart disease and arrhythmia in elementary school children in Busan, and to provide adequate prevention and treatment. Methods : A total of 23,802(male 12,909, female 10,893) 1st grade elementary school children living in Busan were studied. All children were 7-8 years old. We obtained their medical history by questionnaire and checked elecrocardiography(ECG). Subsequent screening tests including a 2nd ECG, chest X-ray, phonocardiogram and CBC for the students who had abnormal findings at the first screening test. The third screening test was done for students who had cardiac murmurs or abnormal ECG findings in the second screening test by echocardiogram, treadmill test and 24-hour Holter monitoring. Results : Among 23,802 children participants, 605(2.54%) had abnormal ECG findings at the first screening test. Q wave abnormality(0.58%) was observed most frequently, and complete right bundle branch block(RBBB)(0.26%), sinus tachycardia(0.24%), right axis deviation(0.22%) and ventricular premature contraction(VPC)(0.21%) followed in order. Four hundred and twenty four children participated in the second ECG screening test. Two hundred and two children(47.6%) had an abnormality such as sinus tachycardia(18.8%), VPC(17.8%), or complete RBBB(17.3%). After completing the third examination including echocardiogram, we couldn't find the students with ventricular tachycardia (VT) or SVT at the third arrhythmia screening test. Conclusion : A high incidence of arrhythmia was found in the 1st grade elementary school children in Busan despite their healthy appearances, although fatal heart diseases were not noted. Early diagnosis, adequate preventative measures and treatment will prevent and decrease the frequency of emergent situations like syncope and sudden death.
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