• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.16 no.2
• /
• pp.93-101
• /
• 2016

Purpose: McArdle disease, glycogen storage disease type V (GSD V), is one of the most common adolescent-onset glycogen storage diseases. It is caused by recessive mutations in PYGM encoding myophosphorylase, which is critical to glycogen metabolism. Since only a few korean patients have been reported, we will observe the clinical and genetic features of three korean patients with McArdle disease. Methods: We retrospectively reviewed the medical records of three patients with genetically confirmed McArdle disease, including the results of forearm ischemic exercise test, electromyogram, nerve conduction velocity, muscle biopsy, and PYGM analysis in peripheral leukocytes. Results: All three cases were males and their age of symptom onset was 12, 5, 14 years old, respectively. A high basal level of serum creatine kinase was noted in all three patients. They experienced the recurrent episodes of rhabdomyolysis, but second wind phenomenon was not definite. In muscle biopsy, subsarcolemmal space vacuoles including periodic acid schiff stained materials were found in two patients, while no evidence of glycogen storage disease was found in the other. A total of five different mutations, $p.Arg50^*$, p.Trp798Arg, $p.Arg50^*$, p.Glu779del, $p.Asp511Thrfs^*28$ and p.Phe710del, were found in three patients. Avoidance of isometric exercise, aerobic exercise and glucose intake before each exercise were recommended for all patients. Conclusion: The three Korean patients with McArdle disease showed the typical manifestations of the condition. The most mutations were private. Therefore, identification of more cases with long-term follow-up will be required to understand the clinical and genetic features of this disease among Korean population.

• The Korean Journal of Pharmacology
• /
• v.31 no.1 s.57
• /
• pp.1-9
• /
• 1995

The slow development of histopathological changes and long period required for stabilization of lesions have suggested that secondary injury processes exacerbate the effect of initial mechanical insult after traumatic spinal cord injury (SCI). The importance of glutamate receptors in the normal functions of spinal cord, in concert with the large body of evidence that points to their involvement in neurotoxicity due to both ischemic and traumatic insults to the CNS, suggested a probable role of glutamate receptors in secondary injury process after traumatic SCI. In order to investigate the involvement of excitatory amino acid in the secondary injury process after SCI, this study examined the effect of dextrorphan, a noncompetitive NMDA receptor antagonist, on the recovery of hindlimb function and the residual tissue at injury site following SCI. Locomotor function was assessed using open field test (21 point scale). At 8 weeks spinal cord tissue was examined using quantitative histopathologic technique. Prior to surgery female Long-Evans rats were adapted to the test environment. Rats received laminectomies (T9/T10), and spinal cord contusions (NYU impactor) were produced by a 10 gm weight dropped 25 mm. DXT (15 or 30 mg/kg, i.p.) or saline was injected 15 min before contusion. Behavioral testing resumed 2 days post-injury and continued twice a week for 8 weeks. No differences between DXT and saline groups were found for hindlimb function and sparing tissue at the lesion site. These results suggest that NMDA receptor might not be involved in secondary injury processes after traumatic SCI.

• Investigative Magnetic Resonance Imaging
• /
• v.6 no.1
• /
• pp.64-72
• /
• 2002

Purpose : To introduce and demonstrate the advantages of the new hybrid two-dimensional (2D) proton spectroscopic imaging (SI) over the single voxel spectroscopy (SVS) and conventional 2D SI in the clinical application of spectroscopy for pediatric cerebral disease. Materials and Methods : Eighty-one hybrid 2D proton spectroscopic imaging was performed in 79 children (36 normal infants and children, 10 with hypoxic-ischemic injury, 20 with toxic-metabolic encephalopathy, seven with brain tumor, three with meningoencephalitis, one with neurofibromatosis, one with Sturge-Weber syndrome and one with lissencephaly) ranging in age from the third day of life to 15 years. In adult volunteers (n=5), all three techniques including hybrid 2D proton SI, SVS using PRESS sequence, and conventional 2D proton SI were performed. Both hybrid 2D proton SI and SVS using PRESS sequence were performed in clinical cases (n=). All measurements were performed with a 1.5-T scanner using standard head quadrature coil. The 16$\times$16 phase encoding steps were set on variable field of view (FOV) depending on the size of the brain. The hybrid volume of interest inside FOV was set as $75{\times}75{\times}15{\;}\textrm{mm}^3$ or smaller to get rid of unwanted fat signal. Point-resolved spectroscopy (TR/TE=1,500 msec/135 or 270msec) was employed with standard chemical shift selective saturation (CHESSI pulses for water suppression. The acquisition time and spectral quality of hybrid 2D proton SI were compared with those of SVS and conventional 2D proton SI. Results : The hybrid 2D proton SI was successfully conducted upon all patients.

• Investigative Magnetic Resonance Imaging
• /
• v.3 no.2
• /
• pp.173-178
• /
• 1999

Purpose : To evaluate the usefulness of functional MRI (fMRI) of visual cortex in patients with ischemic infarction in the occipital lobe. Materials and Methods : Four patients with the symptoms and signs of visual cortical ischemia were included. Functional MRI was performed by 2D-FLASH technique with the parameter of 90/56msec TR/TE, $40^{\circ}$ flip angle, $240{\times}240{\;}FOV,{\;}64{\times}128$ matrix number, 8.32 seconds acquisition time, 8mm slice thickness. An axial slice including both visual cortices was selected and alternative activation and resting of the visual cortex was performed using red color photostimulator. all patients undertook visual field test, and vascular abnormality was examined by MRA (n=4) and DSA (n=2). fMRI results were compared with the results of a visual field test, conventional MRI and cerebral angiography. Results : On fMRI, decreased activity of the visual cortex was found in the occipital lobe corresponding to stenosis of the posterior cerebral artery or its branch noted on angiogram. However, 2 of 4 patients showed no abnormal findings on conventional MRI. Visual field defect was noted in 3 patients, one and of whom showed no abnormality on conventional MRI and diffusion-weighted image, but revealed decreased activity in the corresponding visual cortex on fMRI. Conclusion : fMRI may be a sensitive method for detection of the status of decreased blood flow or vascular reserve which other methods can not.

• Korean Journal of Biological Psychiatry
• /
• v.12 no.1
• /
• pp.42-61
• /
• 2005

Objectives:The ginsenoside Rg1 and Rb1, the major components of ginseng saponin, have neurotrophic and neuroprotective effects including promotion of neuronal survival and proliferation, facilitation of learning and memory, and protection from ischemic injury and apoptosis. In this study, to investigate the molecular basis of the effects of ginsenoside on neuron, we analyzed gene expression profiling of SH-SY5Y human neuroblastoma cells treated with ginsenoside Rg1 or Rb1. Methods:SH-SY5Y cells were cultured and treated in triplicate with ginsenoside Rg1 or Rb1($80{\mu}M$, $40{\mu}M$, $20{\mu}M$). The proliferation rates of SH-SY5Y cells were determined by MTT assay and microscopic examination. We used a high density cDNA microarray chip that contained 8K human genes to analyze the gene expression profiles in SH-SY5Y cells. We analyzed using the Significance Analysis of Microarray(SAM) method for identifying genes on a microarray with statistically significant changes in expression. Results:Treatment of SH-SY5Y cells with $80{\mu}M$ ginsenoside Rg1 or Rb1 for 36h showed maximal proliferation compared with other concentrations or control. The results of the microarray experiment yielded 96 genes were upregulated(${\geq}$3 fold) in Rg1 treated cells and 40 genes were up-regulated(${\geq}$2 fold) in Rb1 treated cells. Treatment with ginsenoside Rg1 for 36h induced the expression of some genes associated with protein biosynthesis, regulation of transcription or translation, cell proliferation and growth, neurogenesis and differentiation, regulation of cell cycle, energy transport and others. Genes associated with neurogenesis and neuronal differentiation such as SCG10 and MLP increased in ginsenoside Rg1 treated cells, but such changes did not occur in Rb1-group. Conclusion:Our data provide novel insights into the gene mechanisms involved in possible role for ginsenoside Rg1 or Rb1 in mediating neuronal proliferation or cell viability, which can elicit distinct patterns of gene expression in neuronal cell line. Ginsenoside Rg1 have more broad and strong effects than ginsenoside Rb1 in gene expression and related cellular physiology. In addition, we suggest that SCG10 gene, which is known to be expressed in neuronal differentiation during development and neuronal regeneration during adulthood, may have a role in enhancement of activity dependent synaptic plasticity or cytoskeletal regulation following treatment of ginsenoside Rg1. Further, ginsenoside Rg1 may have a possible role in regeneration of injured neuron, promotion of memory, and prevention from aging or neuronal degeneration.

• Radiation Oncology Journal
• /
• v.25 no.1
• /
• pp.26-33
• /
• 2007

[ $\underline{Purpose}$ ]: The aim of this study is to evaluate and compare the incidence and aspects of myocardial perfusion defects in patients who were subjected to either two-dimensional or three-dimensional simulation techniques for early left-sided breast cancer. The myocardial perfusion defects were determined from using single photon emitted computerized tomography (SPECT) myocardial perfusion images. $\underline{Materials\;and\;Methods}$: Between January 2002 and August 2003, 32 patients were enrolled in this study. The patients were diagnosed as having early (AJCC stage T1-T2N0M0) left-sided breast cancer and were treated with tangential irradiation after breast-conserving surgery and systemic chemotherapy. The patients were divided into two groups according to the type of simulation received: two-dimensional simulation using an X-ray fluoroscope simulator or three-dimensional simulation with a CT simulator. All patients underwent technetium-99m-sestamibi gated perfusion SPECT at least 3 years after radiotherapy. The incidence and area of myocardial perfusion defects were evaluated and were compared in the two groups, and at the same time left ventricular ejection fraction and cardiac wall motion were also analyzed. The cardiac volume included in the radiation fields was calculated and evaluated to check for a correlation between the amount of irradiated cardiac volume and aspects of myocardial perfusion defects. $\underline{Results}$: A myocardial perfusion defect was detected in 11 of 32 patients (34.4%). There were 7 (46.7%) perfusion defect cases in 15 patients who underwent the two-dimensional simulation technique and 4 (23.5%) patients with perfusion defects in the three-dimensional simulation group (p=0.0312). In 10 of 11 patients who had myocardial perfusion changes, the perfusion defects were observed in the cardiac apex. The left ventricular ejection fraction was within the normal range and cardiac wall motion was normal in all patients. The irradiated cardiac volume of patients in the three-dimensional simulation group was less than that of patients who received the two-dimensional simulation technique, but there was no statistical significance as compared to the incidence of perfusion defects. $\underline{Conclusion}$: Radiotherapy with a CT simulator (three-dimensional simulation technique) for early left-sided breast cancer may reduce the size of the irradiated cardiac volume and the incidence of myocardial perfusion defects. Further investigation and a longer follow-up duration are needed to analyze the relationship between myocardial perfusion defects and clinical ischemic heart disease.

• Journal of Chest Surgery
• /
• v.36 no.3
• /
• pp.142-149
• /
• 2003

To know the feasibility of the coronary artery bypass graft (CABG) for multivessel coronary artery disease with purely bilateral internal thoracic arteries (ITAs), we analyzed the short-term clinical results and the coronary angiography of the patients. Material and Method: From March 2001 to June 2002, four hundred and five patients underwent CABG. Purely bilateral ITAs were used in 159 patients (39.3%). We analyzed these patients retrospectively The mean age of these patients was $61.2{\pm}8.5$ (range: 30 ~80) years and there were 123 male patients. The preoperative risk factors were as follows: diabetes in 54 patients (34.0%), history of acute myocardiac infarction within 4 weeks in 29 (18.2%), and emergency operation in 6 (3.8%). Off-pump CABG was carried out in 128 patients (80.5%). Associated procedures were mitral valvuloplasty (5), aortic valve replacement (3), Dor procedure (1), and so on. Result: The mean number of distal anastomoses was $3.1{\pm}0.9$ (range: 2~6), the mean duration of hospital stay was $8.4{\pm}4.5$ days. There was one (0.6%) operative death. Except for one early death, no other patients suffered from low cardiac output. The other postoperative complications were occurred as follows: reoperation due to bleeding in 3 patients, perioperative myocardiac infarction in 1, transient cardiac arrest in 2, transient cognitive dysfunction in 7, and transient ischemic attack in 1, and deep sternal wound infection in 1 patient. Recently, early postoperative angiography was performed in 19 patients who had triple vessel disease. The total number of distal anastomosis was 78 (mean $4.1{\pm}0.8$/patient). All distal anastomosis sites were patent, but competition flow was observed at the bypass sites where the native coronary artery stenosis was not significant. Conclusion: The CABG with purely bilateral ITAs for triple vessel disease was performed safely. The early patency rate was relatively good in small number of patients. However the long-term patency rate and the functional study to evaluate the sites where competition flow was observed should be followed.

• Journal of Chest Surgery
• /
• v.37 no.9
• /
• pp.768-773
• /
• 2004

Failure of mitral valve repair sometimes may be ascribed to severe or progressive alteration of the subvalvar apparatus. The aim of this study was to evaluate the effects of new chordae formation on mitral repair. Material and Method: From March 1997 to february 1999, 26 patients underwent mitral valve repairs with new chordae formation, we compared the symptoms and echocardiographic findings checked at preoperative state, and intraoperative period, discharge, and their last OPD visit. There were 45 male, and 11 female patients, and their mean age was 51.2$\pm$43.4 years. Etiology of the lesions was degenerative (18), rheumatic (6), infective (1) and ischemic (1). Chordal lesions were caused by rupture (18), elongation (6), and a combination of two causes (2). Associated lesions included atrial septal defect (2), tricuspid insufficiency (7), aortic insufficiency(4), and a combination of previous two factors (2). The number of mean artificial chordae was 3.6$\pm$1.6. Annuloplasty was per-formed in all cases. The CPB time was 182,1$\pm$63.7 minutes and the ACC time was 133.1$\pm$45.6 minutes. Aver-age follow up period was 49.2$\pm$7.1 months. Result: There was no early death. Early reoperation was performed in bud patients, one patient received mitral valve replacement because of an abnormality of annuloplasty and ano-ther received pericardiostomy due to postoperative pericardial effusion. During the follow up of 49.2$\pm$7.1 moths, there was no late mortality. Postoperative NYHA functional class checked at last OPD visit was class I in 22 patients (88%), class II in 2 (8%), and class III in 1 (4%). Regarding the late echocardiogram MR was absent in 20 patients (78%), 1 in 4 (15%), and II in 1 (4%). The postrepair mitral valve area was 2.2$\pm$0.35 $\textrm{cm}^2$ Conclusion: This study suggests that mitral valve repair using new chordae formation provides good early and mid term survivals and functional improvement. We think that the artificial chorda formation with polytetrafluoroethylene suture might be safe and effective technique for mitral valve repair.

• Journal of Chest Surgery
• /
• v.42 no.3
• /
• pp.331-336
• /
• 2009

Background: Open surgical repair of abdominal aortic aneurysms was initiated by Dubost in 1952. Despite the rapid expansion of percutaneous endovascular repair, open surgical repair is still recognized for curative intent. We retrospectively analyzed surgical outcome, complications, and mortality-related factors for patients with abdominal aortic aneurysms over a 6 year period. Material and Method: We analyzed 18 patients who underwent surgery for abdominal aortic aneurysms between March 2002 and March 2008. The indications for surgery were rupture, a maximal aortic diameter >60 mm, medically intractable hypertension, or pain. Result: The mean age was $66.6{\pm}9.3$ years (range, $49\sim81$ years). Twelve patients (66.7%) were males a 6 patients were females. Extension of the aneurysm superior to the renal artery existed in 6 patients (33.3%), and extension to the iliac artery existed in 13 patients (72.2%). Five patients (27.8%) had ruptured aortic aneurysms. The mean maximal diameter of the aorta was $72.2{\pm}12.9$ mm (range, $58\sim109$ mm). Surgery was performed by a midline laparotomy, and 6 patients underwent emergency surgery. The mean total ischemic time from aorta clamping to revascularization was $82{\pm}42$ minutes (range, $35\sim180$ minutes). The mortality rate was 16.7%; the mortality rate for patients with ruptured aneurysms was 60%, and the mortality rate for patients with unruptured aneurysms was 0%. The postoperative complications included one each of renal failure, femoral artery and vein occlusion, and wound infection. The patients who were discharged had a long-term survival of $34{\pm}26$ months (range, $4\sim90$ months). Rupture and emergency surgery had a statistically significant mortality-related factor (p < 0.05). Conclusion: Emergency surgery for ruptured aortic aneurysms continues to have a high mortality, but unruptured cases are repaired with relative safety. Successfully operated patients had long-term survival. Even though endovascular aortic repair is the trend for abdominal aortic aneurysms, aggressive application should be determined with care. Experience and systemic support of each center is important in the treatment plan.

• Journal of Chest Surgery
• /
• v.35 no.1
• /
• pp.1-10
• /
• 2002

Background: Despite the relatively high mortality rates in the chronic heart failure model induced by coronary artery ligation are relatively high, this model has been a subject of continuos research because of its clinical correlation. Chronic heart failure model of large-sized animals is very useful to analyse mechanical or biological effects on circulatory system which is difficult in small-sized animals. The purpose of this study is to establish the heart failure model by coronary artery ligation in sheep. Material and Method: Among 9 Corridale sheep, the homonymous artery and the diagonal branch were ligated simultaneously in 2 sheep and remaining 7 sheep were assigned to successive ligation of both arteries at an interval of 1 hour. Both coronary arteries were ligated from the point 40% proximal to the apex of the heart. Hemodynamic and echocardiographic parameters were analyzed before the ligation of the coronary artery, after the ligation of the homonymous artery, and after additional ligation of the diagonal branch. The experimental animals were sacrificed after 2 or 3 months of growth and histopathologic studies were performed Result: Immediate postoperative death occurred in the 2 sheep that had received simultaneous ligation of the homonymous artery and diagonal branch. On the other hand, all the 7 sheep that were lifated in succession were survived up to 3 months. Arterial pressure was sifnificantly decreased immediately after ligation of the homonymous artery(p<0.05), and the cardiac output was decreased and pulmonary capillary wedge pressure was increased after further ligation of the diagonal branch(p<0.05). Central venous pressure, pulmonary artery pressure, pulmonary capillary wedge pressure, left ventricular end-diastolic dimension and end-systolic dimension were markedly increased 3 months after ligation of coronary arteries. Anteroseptal akinesia or dyskinesia was developed after the ligation of coronary arteries. Histopathologic study revealed we]1-demarcated ischemic area of fibrosis. Conclusion: Using methods of successive ligation of the homonymous artery and diagonal branch, chronic heart failure model could be reliably established in sheep.