• Journal of Genetic Medicine
• /
• v.15 no.1
• /
• pp.28-33
• /
• 2018

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of ${\alpha}$-galactosidase A. Patients with classical FD present acroparesthesia, hypohidrosis, cornea verticillata, disseminated angiokeratoma, and microalbuminuria in childhood, and develop life-threatening renal, cardiac, and cerebrovascular complications typically after the fourth decade of life. To date, more than 700 mutations responsible for FD have been identified in the human GLA gene. Herein, we report a novel GLA mutation, c.1117_1141del25 (p.Gly373Profs*10), identified in an 11-year-old Korean boy with FD presenting early cardiac and neurologic manifestation and in other affected family members. The boy had acroparesthesia, hypohidrosis, cornea verticillata, and left ventricular hypertrophy. His mother and sister also had acroparesthesia. Two males on the mother's side had similar pain and died of unknown causes. The plasma ${\alpha}$-galactosidase A activity (4.1 nmol/hr/mg protein) of the patient was markedly lower than the mean value of the controls. The plasma level of globotriaosylsphingosine was elevated in the patient and all the carriers. We concluded the novel GLA mutation c.1117_1141del25 is a pathogenic mutation for FD, probably related to the early cardiac manifestation of FD.

• Journal of Chest Surgery
• /
• v.19 no.2
• /
• pp.265-272
• /
• 1986

We operated on 199 patients of VSD from 1976 to April l986. Among them, patients of VSD whose medical records were available were analyzed clinically. Operation on patients of VSD occupied 23.9% of total open heart surgery [832 cases] during those days. Of the 164 patients, 93 patients were male [56.7%]. 71 patients were female [43.3%]. Their age ranged from 6 months to 28 years and the mean age was 9.5 year and 82.2% of the patients were between 2 and 15 year of age. Of the patients, body weight below 10Kg were 19 cases. The most common complaints were frequent URI and DOE. On Kirklin`s anatomical classification, type II defect was most common [60.1%], type I [38.4%], combined type I+II, type III, combined type II+Ill and combined type II+IV in orders. Associated anomaly was found in 66 patients [42.5%>]. Pulmonary stenosis was most commonly associated cardiac anomaly [8.4%] and aortic insufficiency [7.1%], ASD, Lt. SVC and PDA in orders. There were extracardiac anomalies such as polydactyly, cleft palate, hypospadia and congenital aniridia, etc. Relationship between ventricular hypertrophy and defect size and cardiac cath. data was analyzed. The overall mortality was 7.0% [14 cases] and complication rate was 22.5% [35 cases].

• Korean Journal of Veterinary Research
• /
• v.44 no.1
• /
• pp.125-129
• /
• 2004

A 2-year-old, female, American cocker spaniel dog presented for a 1-year history of severe ascites, exercise intolerance, tachypnea. At that time, she was in an emergency state. First, the dog was stabilized with oxygen therapy. A diagnosis of cardiac problem was made from history, auscultation, radiograph, ECG, and echocardiography. Jugular pulsation was palpated and a harsh, systolic murmur of tricuspid regurgitation was prominent at the right cardiac apex. Tricuspid valve dysplasia (TVD) was confirmed with echocardiography, accompanying enormous myocardial hypertrophy. The clinical signs had been improved for 8 months with careful therapy and periodic abdominocentesis, and ascites was well controlled. The situation, however, became worse quickly in a week because the client did not follow our management schedule. Finally, she died due to dyspnea and shock. After the spontaneous death, necropsy and histopathological examination were performed and when we opened the thorax, a significantly large heart was observed. On histopathological findings, grossly myocardium appeared pale initially, then progressed to yellow and white. Microscopically, there was an extensive hemorrhage along with loss of myocardial striations. Interstitial fibrosis and various degenerative alterations in myocytes were also present.

• The Korean Journal of Physiology and Pharmacology
• /
• v.26 no.6
• /
• pp.469-478
• /
• 2022

WNT signaling plays an important role in cardiac development, but abnormal activity is often associated with cardiac hypertrophy, myocardial infarction, remodeling, and heart failure. The effect of WNT signaling on regulation of atrial natriuretic peptide (ANP) secretion is unclear. Therefore, the purpose of this study was to investigate the effect of Wnt agonist 1 (Wnta1) on ANP secretion and mechanical dynamics in beating rat atria. Wnta1 treatment significantly increased atrial ANP secretion and pulse pressure; these effects were blocked by U73122, an antagonist of phospholipase C. U73122 also abolished the effects of Wnta1-mediated upregulation of protein kinase C (PKC) β and γ expression, and the PKC antagonist Go 6983 eliminated Wnta1-induced secretion of ANP. In addition, Wnta1 upregulated levels of phospho-transforming growth factor-β activated kinase 1 (p-TAK1), TAK1 banding 1 (TAB1) and phospho-activating transcription factor 2 (p-ATF2); these effects were blocked by both U73122 and Go 6983. Wnta1-induced ATF2 was abrogated by inhibition of TAK1. Furthermore, Wnta1 upregulated the expression of T cell factor (TCF) 3, TCF4, and lymphoid enhancer factor 1 (LEF1), and these effects were blocked by U73122 and Go 6983. Tak1 inhibition abolished the Wnta1-induced expression of TCF3, TCF4, and LEF1 and Wnta1-mediated ANP secretion and changes in mechanical dynamics. These results suggest that Wnta1 increased the secretion of ANP and mechanical dynamics in beating rat atria by activation of PKC-TAK1-ATF2-TCF3/LEF1 and TCF4/LEF1 signaling mainly via the WNT/Ca²⁺ pathway. It is also suggested that WNT-ANP signaling is implicated in cardiac physiology and pathophysiology.

• Journal of Photoscience
• /
• v.9 no.2
• /
• pp.415-417
• /
• 2002

Juvenile visceral steatosis (JVS) mouse is an animal model of the systemic camitine deficiency. JVS mice first develop fatty liver following cardiac hypertrophy. hyperammonemia, etc. To clarify the relationship between fatty liver and other symptoms. lipid hydroperoxides levels of peripheral oragans in JVS mice at 1 month were determined by the use of phosphine derivatives. We also report here a new method to quantitate the lipid components level in fatty liver of JVS mice.

• Journal of applied mathematics & informatics
• /
• v.26 no.1_2
• /
• pp.355-364
• /
• 2008

Under pathological stress stimuli, dynamics of a biological system can be changed by alteration of several components such as functional proteins, ultimately leading to disease state. These dynamics in disease state can be modeled using differential equations in which kinetic or system parameters can be obtained from experimental data. One of the most effective ways to restore a particular disease state of biology system (i.e., cell, organ and organism) into the normal state makes optimization of the altered components usually represented by system parameters in the differential equations. There has been no such approach as far as we know. Here we show this approach with a cardiac hypertrophy model in which we obtain the existence of the optimal parameters and construct an optimal system which can be used to find the optimal parameters.

• Journal of Chest Surgery
• /
• v.20 no.3
• /
• pp.610-618
• /
• 1987

A 23-y-o male patient was suffered from intermittent fainting and dyspnea on exertion [NYHA Class IIIIV]. 2-D - Echocardiogram and cardiac catheterization with cineangiogram showed typical IHSS findings those were asymmetrical septal hypertrophy [ASH], systolic anterior motion of anterior mitral leaflet [SAM] which induced mild mitral regurgitation [Seller Grade I/IV] and pressure gradient about 60 mmHg between left ventricle and the aorta. Medical treatment with 8-adrenergic blockade [propranolol] and Ca" channel antagonist [Verapamil] had no response. So, we performed trans-aortic ventricular septal myotomy and mymectomy. Resected rectangular muscle bar was 1 Cm x 1 Cm x 4.5 Cm. Post-operative pressure gradient between the left ventricle and the aorta was less than 10 mmHg and SAM. was disappeared with decreased mitral regurgitation grade. Post-operative course was smooth and his symptoms and signs were free without any medication during 12 months follow-up.w-up.

• Journal of Chest Surgery
• /
• v.16 no.1
• /
• pp.34-39
• /
• 1983

The syndrome of anomalous muscle bundle dividing the right ventricle into two pressure chambers has been described by many authors. The malformation should not be confused with tetralogy of Fallot itself because the obstructive hypertrophic bands are usually proximal to the right ventricular infundibulum. One case [11 years old male] of double chambered right ventricle due to aberrant muscle bundle with intact ventricular septum is presented. The pressure gradient was 68 mmHg between inflow and outflow tracts of right ventricle on cardiac catheterization. On opening the right ventricle, there noted stenosis of outflow tract by infundibular membrane, hypertrophied anomalous muscle bundle, thickened moderator band & hypertrophied anterior papillary muscle. Open heart surgery was carried out with the aid of extracorporeal support, Anomalous muscle bundle [1.0 cm x 4.0 cm] and infundibular membrane were resected safely. The hypertrophied moderator band was cut at mid-portion and anterior papillary muscle was split vertically. The postoperative course was uneventful and discharged in good condition 2 weeks later.

• Journal of Veterinary Clinics
• /
• v.21 no.3
• /
• pp.314-318
• /
• 2004

A 7-month-old 8.2 kg female Siberian Husky with history of exercise intolerance, delayed growth, and tachypnea was presented to Veterinary Medical Teaching Hospital, Kyungpook National University. A holosystolic murmur was identified in cardiac ausculation. In electrocardiography, thoracic radiographs, and ultrasonography, a right axis deviation, enlarged right ventricle, stenotic main pulmonary artery, large ventricular septal defect, marked right ventricle hypertrophy, and overriding aorta with dilation were identified. The color Doppler examination showed the left-to-right shunting of blood via interventricular septal defect and the blood flow streams converging from the right and left ventricles into the aorta. The dog was diagnosed as tetralogy of Fallot. The current state of the dog is well-tolerated without any specific medication.

• Proceedings of the Korea Electromagnetic Engineering Society Conference
• /
• 2001.11a
• /
• pp.86-90
• /
• 2001

Modified coaxial-slot antenna for minimally invasive microwave thermal therapy for liver tumor is studied in this paper. Minimally invasive microwave antenna in medicine are applied for hyperthermia for medical treatment for cancer, cardiac catheter ablation for ventricular arrhythmias treatments, microwave treatment of Benign prostatic hypertrophy, and so on. Microwave hyperthermal ablation for liver tumors is expected for enthusiasts as an alternative to curative surgical resection. Tumors have to heated up to 60 degree C to coagulate .cancer cells but less than 100 degree C to avoid evaporation. Temperature dependence of properties of the tissues should be considered for wide range of treatment. Electrical properties of liver tissue were measured for different temperatures. SAR distribution around the antenna into the liver are simulated using Remcom's XFDTD.