We present the first case report of fragile X-associated tremor ataxia syndrome (FXTAS) in the Republic of Korea. A 75-year-old male developed progressive gait ataxia, parkinsonism, and a mood disorder. Magnetic resonance imaging revealed T2 high signal intensity within the middle cerebellar peduncles. Analysis of the fragile X mental retardation 1 gene revealed a CGG trinucleotide repeat number of 136. FXTAS should be considered when a patient has atypical parkinsonism, cerebellar ataxia, and specific MRI abnormalities.

BACKGROUND: Coronary artery disease(CAD) has been related to a number of factors, including diabetes, smoking,hypertension, blood lipids, and family history of CAD. However, a few studies have examined the correlation between these factors and severity of CAD. In the present study, we aimed to define the correlation between risk factors and the severity of CAD. METHODS: The study population was 309 consecutive patients who underwent coronary angiography in Kang Nam St. Marys hospital between Mar. 1992 and Aug. 1994. We analyzed risk factors of CA ; age, total cholesterol(TC), triglyceride, high density lipoprotein cholesterol(HDL-C), low density lipoprotein cholesterol cholesterol(LDL-C), the ratio of TC to HDL-C, Lp(a), uric acid, fibrinogen, diabetes, hypertension, smoking, and family history of CAD. All films were reviewed without specific knowledge of blood laboratory results. Significant occlusive disease was defined as >50% diameter obstruction of a major coronary vessel. Extent of disease was defined as the number of major coronalry arteries with significant occlusive disease. RESULTS: 1) Statistically significant risk factors between one vessel disease group and multivessel disease group are age, TC, LDL-C, and diabetes in total patients and age, LDL, and diabetes in male patients. But there is no significant difference in female patients. 2) In patients with multivessel disease, age, HDL-C level are significantly lowere, and TG level and the percentage of smkoing are significantly higher, in male than female. 3) There is increase in four major risk factors(diabetes, hypertension,smoking,hypercholesterolemia) with the increased number of diseasesd coronary arteries; normal coronary group has 1.07 risk factors, one vessel disease group 1.30, two vessel disease group 1.49, and three vessel disease group 1.78. 4) In total and male patients, three independent variables are significantly associated with severity of CAD. These variables are age, smoking, and diabetes. In female patients, diabetes in only significant independent risk factor. CONCLUSION: The significant independent risk factors associated with severity of CAD are age, diabetes, and smoking in total and male patients. Whereas in female patients, diabetes is only significant independent risk factor.
Arteries ; Cholesterol, LDL ; Coronary Angiography ; Coronary Artery Disease* ; Coronary Vessels* ; Female ; Fibrinogen ; Humans ; Hypertension ; Lipoproteins ; Male ; Risk Factors* ; Smoke ; Smoking ; Triglycerides ; Uric Acid

BACKGROUND AND OBJECTIVES: The degree of diastolic dysfunction may explain the difference in clinical symptoms between patients with similar degrees of systolic dysfunction. Pseudonormal mitral filling pattern with increased left ventricular filling pressure is a transitional stage of diastolic dysfunction and is difficult to distinguish from normal. Preload is one of factors affecting the diastolic filling patterns and mitral flow patterns may be influenced by changes in preload in the absence of changes in the left ventricular pressure-volume curve. The changes in the mitral flow velocities caused by preload reduction may be useful in distinguishing patients with a pseudonormal pattern from those with normal. The aim of this study was to establish whether the effect of changes in pulmonary venous flow pattern by preload reduction may be useful in distinguishing pseudonormal pattern from normal. MATERIALS AND METHODS: This study included 40 patients (men 25, female 15, average age 51.0+/-11.2 years) underwent left side cardiac catheterization among patients with normal or pseudonormal patterns. All patients with pseudonormal group had increased LVEDPr (>15 mmHg). The Doppler mitral inflow & pulmonary venous flow parameters at baseline and during reduction of preload using Valsalva maneuver were recorded. RESULTS: 1) There were no difference in sex, diabetes mellitus, hypertension and lipid profiles between both groups. The left ventricular systolic function was better and mean age was younger in normal than pseudonormal group (p<0.05). The incidence of coronary artery disease was more frequent and LV mass was more increased in pseudonormal than normal group (p<0.05). 2) E and A velocities were significantly decreased but E/A ratio was still <0A65B> 1.0 during Valsalva maneuver in normal group (p<0.05). In pseudonormal group, E velocity was significantly decreased but A velocity was not significantly changed and the E/A ratio was <1.0 during Valsalva (p<0.05). Therefore the change revealed masked LV relaxation abnormality pattern. 3) S and D velocities of pulmonary venous flow were significantly decreased and S/D ratio was significantly increased in both groups (p<0.05). The % changes before and after Valsalva maneuver showed that S velocity was less decreased, D velocity was more decreased and S/D ratio was more significantly increased in pseudonormal than normal group (p<0.05). That revealed masked LV relaxation abnormality pattern. CONCLUSIONS: The Valsalva maneuver for preload reduction is a relatively simple, easily applicable, safe and reproducible method of acutely reducing venous return. The assessment of changes in pulmonary venous flow pattern by preload reduction may be helpful in distinguishing pseudonormal and normal diastolic function in addition to changes in mitral inflow pattern.
Cardiac Catheterization ; Cardiac Catheters ; Coronary Artery Disease ; Diabetes Mellitus ; Female ; Humans ; Hypertension ; Incidence ; Masks ; Relaxation ; Valsalva Maneuver

BACKGROUND: Pulmonary venous flow velocity pattern (PVFVP) is widely used to assess LV diastolic function. It is known that the parameters of PVFVP have a significant correlation with the ratio of peak early diastolic filling velocity (E) to peak filling velocity at atrial contraciton (A) measured in the transmitral flow. However, the correlations between parameters of superior vena caval flow (SVCF) and transtricuspid E/A ratio have not been reported. Therefore the present investigation was performed to elucidate these correlations. METHODS: Fifty patients (26 men, mean age 63.1+/-11.1 years), who did not have significant tricuspid valvular disease and restrictive filling pattern on tricuspid and superior vena caval doppler, were included in this study. SVCF was recorded with the transducer positioned at subxiphoid area and the sample volume placed 2 cm within the superior vena cava. Blood flow across the tricuspid valve was obtained from standard four chamber view or modified parasternal four chamber view with the sample volume placed on leaflet tips. Recording was made during midexpiratory apnea. The following doppler parameters were measured: transtricuspid E and A velocity, E/A ratio: systolic (S) and diastolic (D) peak velocities and time velocity integrals (TVI), S/D velocity ratio, S/D TVI ratio, atrial reversal peak velocity (ArV) and TVI (ArTVI) in SVCF. RESULTS: 1) In SVCF, S velocity (63.7+/-11.8 cm/s vs 73.4+/-13.6 cm/sec, p<0.05), S TVI (17.4+/-3.6 cm vs 21.1+/-6.2 cm, p<0.05), ArV (30.0+/-6.9 cm/s vs 37.2+/-7.3 cm/s, p<0.005), and ArTVI (2.7+/-0.8 cm vs 3.3+/-0.8 cm, p<0.01) were significantly decreased in group E/A>1. And D TVI (7.1+/-3.0 cm vs 5.2+/-3.1 cm, p<0.05) and D/S TVI ratio (0.41+/-0.13 vs 0.26+/-0.14, p<0.05) were significantly increased in group E/A>1. 2) As E/A ratio increased, diastolic TVI (r=0.315, p<0.05) and D/S TVI ratio (r=0.448, p<0.001) increased, and ArTVI (r=-0.376, p<0.01) and ArV (r=-0.416, p<0.01) decreased. 3) As E peak velocity increased, SVCF D peak velocity increased (r=0.305, p<0.05). CONCLUSIONS: Tricusupid E/A ratio has positive correlations with D TVI and D/S TVI ratio, and negative correlations with ArTVI and ArV. But there were no correlations in S velocity, D velocity, and S/D velocity ratio as the relation of mitral E/A ratio with PVFVP.
Apnea ; Humans ; Male ; Transducers ; Tricuspid Valve ; Vena Cava, Superior

Neurofibromatosis type I is a genetic disease caused by mutations in the neurofibromin 1 (NF1) gene. Although it is characterized by a number of distinct clinical features, including cafe au lait macules, freckling in the axillary or inguinal regions, neurofibromas, and Lisch nodules (iris harmartomas), it can affect all physiological systems in the body [1]. Neurofibromatosis-related pulmonary hypertension has also been reported, and some patients showed a poor prognosis despite having received proper medical treatment [2-4]. We herein describe a case of pulmonary hypertension in a patient with neurofibromatosis type I who had no identified risk factors of pulmonary hypertension. To our knowledge, this is the first such report in Korea.
Humans ; Hypertension ; Hypertension, Pulmonary* ; Korea ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1* ; Neurofibromin 1 ; Prognosis ; Risk Factors

Neurofibromatosis type I is a genetic disease caused by mutations in the neurofibromin 1 (NF1) gene. Although it is characterized by a number of distinct clinical features, including cafe au lait macules, freckling in the axillary or inguinal regions, neurofibromas, and Lisch nodules (iris harmartomas), it can affect all physiological systems in the body [1]. Neurofibromatosis-related pulmonary hypertension has also been reported, and some patients showed a poor prognosis despite having received proper medical treatment [2-4]. We herein describe a case of pulmonary hypertension in a patient with neurofibromatosis type I who had no identified risk factors of pulmonary hypertension. To our knowledge, this is the first such report in Korea.
Humans ; Hypertension ; Hypertension, Pulmonary* ; Korea ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1* ; Neurofibromin 1 ; Prognosis ; Risk Factors

BACKGROUND: A widened left atrial pressure A wave occurs when left ventricular end-diastolic pressure is increased. It has been reported that increased duration of pulmonary venous flow reversal at atrial systolic pulmonary venous flow is shown to be related to increased left ventricular filling pressure in studies using transesophageal Doppler echocardiography. We evaluate the correlation between LVEDP measured by the invasive method and the mitarl and pulmonary venous flow index recorded by transthoracic Doppler echocardiography. METHODS: Left ventricular pressures at late diastole were measured by fluid-filled catheters in 70-consecutive coronary heart patients undergoing diagnostic cardiac catheterization. Pulmonary venous and mitral flow velocities were recorded by transthoracic pulsed Doppler ultrasound. Adequate recordings were obtained in the 70 patients. Diastolic function differentiated into four categories . RESULTS: Pulmonary venous flow reversal exceeding the duration of the mitral A wave predicted left ventricular end-diastolic pressure > or = 18mmHg with a sensitivity of 0.78 and a specificity of 0.95. Pulmonary venous flow reversal duration (PVad) exceeding 140msec predicted left ventricular end-diastolic pressure > or = 18mmHg with a sensitivity of 0.89 and a specificity of 0.93. This difference in flow duration (PVad-Ad, deltad) correlated well with increased LVEDP (r=0.537, p<0.001). PVad also correlated with increased LVEDP (r=0.503, p<0.001). CONCLUSIONS: If pulmonary venous flow reversal (PVad) exceeds both the duration of the mitral A wave and 140msec, it indicates an exaggerated increase in left ventricular end diastolic pressure.
Atrial Pressure ; Blood Pressure ; Cardiac Catheterization ; Cardiac Catheters ; Catheters ; Coronary Artery Disease* ; Coronary Vessels* ; Diastole ; Echocardiography, Doppler ; Heart ; Humans ; Relaxation ; Sensitivity and Specificity ; Ultrasonography* ; Ventricular Pressure

Transient receptor potential canonical 4 (TRPC4) channel is a nonselective calcium-permeable cation channels. In intestinal smooth muscle cells, TRPC4 currents contribute more than 80% to muscarinic cationic current (mIcat). With its inward-rectifying current-voltage relationship and high calcium permeability, TRPC4 channels permit calcium influx once the channel is opened by muscarinic receptor stimulation. Polyamines are known to inhibit nonselective cation channels that mediate the generation of mIcat. Moreover, it is reported that TRPC4 channels are blocked by the intracellular spermine through electrostatic interaction with glutamate residues (E728, E729). Here, we investigated the correlation between the magnitude of channel inactivation by spermine and the magnitude of channel conductance. We also found additional spermine binding sites in TRPC4. We evaluated channel activity with electrophysiological recordings and revalidated structural significance based on Cryo-EM structure, which was resolved recently. We found that there is no correlation between magnitude of inhibitory action of spermine and magnitude of maximum current of the channel. In intracellular region, TRPC4 attracts spermine at channel periphery by reducing access resistance, and acidic residues contribute to blocking action of intracellular spermine; channel periphery, E649; cytosolic space, D629, D649, and E687.
Amino Acids ; Binding Sites ; Calcium ; Cytosol ; Glutamic Acid ; Myocytes, Smooth Muscle ; Permeability ; Polyamines ; Receptors, Muscarinic ; Spermine ; Transient Receptor Potential Channels

Congenital intrapericardial left atrial appendage aneurysms (LAAA) are very rare. Most cases are asymptomatic and this malady is generally incidentally diagnosed in older patients. LAAAs are usually accompanied with supraventricular arrhythmias and life-threatening systemic embolism. Complete surgical correction is recommended immediately after the diagnosis to prevent significant complications, and even for the asymptomatic patients. We report here on the case of a 45-year-old man who presented with cerebral embolism due to LAAA. The patient was successfully treated with a resection of the aneurysm.
Aneurysm ; Arrhythmias, Cardiac ; Atrial Appendage ; Embolism ; Heart Atria ; Humans ; Intracranial Embolism ; Middle Aged ; Stroke

Essential thrombocythemia (ET) is characterized by most cases in which platelet counts exceed 1 million/µL. ET is usually no symptoms during non-pregnancy, but arterial and venous thrombosis and hemorrhage may develop in pregnancy. Pregnancy in these patients is associated with many complications in both pregnant women and fetuses such as recurrent abortion, intrauterine fetal growth restriction, preterm delivery, preeclampsia, and stillbirth. In these patients, aspirin, low-molecular-weight heparin (LMWH), and interferon alpha (INF-α) are recommended during pregnancy. We report a case of four consecutive abortions despite being treated with INF-α, low dose aspirin, and LMWH in patient with ET.
Abortion, Habitual* ; Aspirin ; Female ; Fetal Development ; Fetus ; Hemorrhage ; Heparin, Low-Molecular-Weight ; Humans ; Interferon-alpha ; Platelet Count ; Pre-Eclampsia ; Pregnancy ; Pregnant Women ; Stillbirth ; Thrombocythemia, Essential* ; Venous Thrombosis