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Background: Tumour necrosis factor-alpha (TNFα) is an essential regulator of immune responses and is implicated to relate to several types of disease susceptibilities. Population information on polymorphisms is essential for the study of genetic diseases. Aim: To obtain accurate information about single nucleotide polymorphisms (SNPs) in the TNFα gene in the Japanese population. Subjects and Methods: The entire TNFα gene was screened for SNPs by directly sequencing 48 chromosomes derived from 24 unrelated Japanese individuals. Allele frequencies of each polymorphism were determined and compared with those previously reported in other populations. Results: Three SNPs, -308G/A at nt -308, IVS1 + 125G/A at nt 492 and IVS3 + 104G/A at nt 1359 were observed, of which one (IVS3 + 104G/A at nt 1359) was novel. In addition, allele frequencies of -308G/A were remarkably different from those presented in the NCBI dbSNP, indicating a significant ethnic difference. Conclusions: The polymorphisms and allele frequencies obtained in this study will be useful for genetic studies of common diseases such as osteoporosis and rheumatoid arthritis in the Japanese population. [ABSTRACT FROM AUTHOR]

Objective: Low-density lipoprotein (LDL) apheresis is a potential therapy for conventional therapy-resistant peripheral artery disease. In the present study, we examined the chronic effects of LDL apheresis on clinical parameters in vivo and endothelial cell functions in vitro in hemodialysis patients who had the complication of peripheral artery disease., Methods and Results: Twenty-five patients were enrolled, and the responses of 19 patients to LDL apheresis were analyzed. Patients were classified into 2 groups according to change in ankle-brachial pressure index (ABI) after treatment: patients with improved ABI (responders, n=10) and patients with worsened ABI (nonresponders, n=9). In the responders, apheresis resulted in a long-term reduction of circulating levels of oxidized LDL, C-reactive protein, and fibrinogen. In human umbilical vein endothelial cells (HUVECs), the serum from the responders increased expression of activated endothelial nitric oxide synthase protein and proliferative activity. Furthermore, there was a significant correlation between ABI and activated endothelial nitric oxide synthase protein level in HUVECs treated with responder serum (R=0.427, P<0.05)., Conclusion: These results demonstrate that LDL apheresis decreases oxidized LDL and inflammation and improves endothelial cell function in the responders. This may be one of the mechanisms involved in the long-term therapeutic effect of LDL apheresis on peripheral circulation in hemodialysis patients.

A 54-year-old male presented with haemoptysis. Bronchial arteriography revealed a bent, meandering and dilated bronchial artery with vascular hyperplasia in multiple locations. The patient was diagnosed as having primary racemose haemangioma of the bronchial artery. Using a microcatheter, TorconNB (5 Fr) and Progreat (2.7 Fr), selective gelfoam embolization of the descending branch of the right bronchial artery was performed using the double catheter method. This approach would allow effective treatment of the haemorrhage and avoid spinal cord injury.

A 70-year-old female presented with yellow discoloration of the nail beds of all fingers and toes, as well as bilateral pleural effusions. The patient was diagnosed as having the yellow nail syndrome based on the triad of yellow nails, lymphedema, and pleural effusions. The patient's intractable bilateral pleural effusion was treated with pleurodesis using OK-432. The treatment prevented the accumulation of pleural fluid for a long period of time. Pleural effusion associated with yellow nail syndrome is thought to be difficult to treat; however, this patient's excellent clinical course suggests that pleurodesis with OK-432 could be used to treat the disease in the future.

A 76-year-old man, who was in the hospital for the treatment of type 2 diabetes mellitus and was receiving gonadotropin-releasing hormone (GnRH) agonist treatment for prostate cancer, developed fever and hypoxemia. Imaging revealed diffuse interstitial shadows, and PCR of the bronchoalveolar lavage fluid was positive for Pneumocystis jirovecii. The patient's absolute CD4-positive lymphocyte count dropped to 145/microl, but the HIV antibody was negative. After trimethoprim-sulfamethoxazole (TMP/SXT) treatment, the absolute CD4 positive lymphocyte count returned to normal. This patient with type 2 diabetes mellitus developed Pneumocystis pneumonia and developed a transient decrease in CD4-positive lymphocytes.

Background: Clinical data suggest that changes in intrathoracic impedance and fluid accumulation in the lung are inversely related., Methods and Results: Daily shock impedance (S-IMP) was evaluated in 29 patients in whom a Ventak Prizm 2 was implanted (61+/-14 years old). The mean follow-up period was 45+/-18 weeks, during which 6 patients had episodes of decompensated heart failure (DHF group) and the others did not (NHF group). There was no significant difference between the DHF group and NHF group in the mean value of the S-IMP (46.4 +/-3.3 vs 45.4+/-5.4 Omega). The range of S-IMP in individual patients in the DHF group was significantly greater than that in the NHF group (13.8+/-0.38 vs 7.0+/-3.1 Omega, p<0.0001). Mean weekly change of S-IMP in individual patients in the DHF group was significantly greater than that in the NHF group (1.583+/-0.630 vs 1.092+/-0.361 Omega, p<0.0176). When the cut-off value was set at >1.242 Omega, sensitivity was 100% and specificity was 69.6% for a diagnosis of DHF. There was a significant negative correlation between the percent increases in brain natriuretic peptide (BNP) and S-IMP (correlation coefficient: -0.775 p<0.0001) in the DHF group. There was an inverse relation between BNP and S-IMP., Conclusions: Measurement of shock impedance may be useful in the management of congestive heart failure.

We report a case of drug-induced pneumonitis and hepatitis associated with the herbal medication Bofutsusyo-san. A 41-year-old woman was admitted to our hospital with pneumonitis and hepatitis. She complained of fever and dyspnea. Fine crackles were heard on chest auscultation and a chest X-ray film revealed diffuse reticulo-nodular shadow in both lung fields. Cessation of the medication improved the patient' s clinical and X-ray findings. Bronchoalveolar lavage showed an increase of the lymphocytes and a diminished CD4/CD8 ratio. A drug-induced lymphocyte stimulation test was positive. Challenge tests for Bofutsusyo-san were positive. A diagnosis of drug-induced pneumonitis and hepatitis was made. Our findings suggested an association with Ou-gon.

A 74-year-old man with ischemic cardiomyopathy was repeatedly admitted for congestive heart failure. His left ventricular ejection fraction was 21% and diastolic left ventricular dimension was 73.5mm by echocardiography. He was treated with biventricular pacing and heart failure improved from New York Heart Association class III to II. Before the treatment, brain natriuretic peptide was 600.5 pg/ml. Apnea hypopnea index was 23.8 and all events were central type. After biventricular pacing, apnea hypopnea index was improved to 21.9 after 11 days, 14.0 after 33 days, and 4.8 after 48 days. His left ventricular ejection fraction was 36%, diastolic left ventricular dimension was 71.4mm, and brain natriuretic peptide was 383.8 pg/ml. In this patient, central sleep disordered breathing was improved by biventricular pacing therapy after only 48 days.

A 32-year-old man had suffered episodes of loss of consciousness since childhood. He was admitted to another hospital because of three syncopal episodes in one day. He was referred to our hospital because of asymptomatic multiple lacunae indicating cerebral infarction on magnetic resonance imaging. He lost consciousness with convulsion followed by a 70-second interval of cardiac arrest during blood sampling. He reported the onset of his usual prodromal symptoms after 1 min in the 80 degrees head-up tilt position. He lost consciousness 2 min after returning to the supine position. Electrocardiography demonstrated a 10-second interval of cardiac arrest. Magnetic resonance angiography, carotid arterial echography, brain perfusion scintigraphy, and laboratory chemistry and hematology examinations identified no significant findings. Cerebral infarction had occurred in watershed areas, so hemodynamic change during cardiac arrest may be the main cause of the infarctions. He suffered no further syncopal or presyncopal episodes after implantation of a DDD pacing system.

Background: Biatrial pacing has a significant problem with memory function that misinterprets normal sinus rhythm as atrial tachyarrhythmias and in addition estimation of the atrial pacing thresholds (biatrial and uniatrial pacing thresholds) is sometimes difficult because of small P waves., Methods and Results: The intracardiac electrograms recorded by a pacemaker in 10 patients (age, 66.7+/-10.7 (SD) years) with implanted biatrial pacemakers were analyzed. Atrial sensing within the atrial refractory period after atrial pacing was counted in 6 of the 10 patients (timing of the double counting was 143+/-64 ms) when pacing failed in the left or right atrium. Atrial sensing within the atrial refractory period after atrial pacing disappeared when biatrial pacing was successfully performed. Atrial double-counts depend on interatrial conduction delay. The memory function of implanted pacemaker devices misinterpreted normal sinus rhythm as atrial tachyarrhythmias because of atrial double-counts. On the other hand, the biatrial pacing threshold was easily recognized using this phenomenon., Conclusions: The memory function of pacemaker devices is unreliable because of atrial double-counting during sinus rhythm in patients with biatrial pacing. However, the biatrial pacing threshold is easily checked using this phenomenon.

We investigated whether polymorphism of the type 6 adenylyl cyclase gene influences the occurrence of left ventricular hypertrophy in a Japanese population. Type 6 adenylyl cyclase is a major cardiac adenylyl cyclase isoform and plays an important role in regulating cardiac function. We examined the type 6 adenylyl cyclase gene for single nucleotide polymorphism by heteroduplex analysis and found a mutation (T11215A) in intron 17. We genotyped the single nucleotide polymorphism (TT/TA/AA groups) by the mutagenically separated polymerase chain reaction method in 2068 subjects who underwent health screening for cardiovascular disease. Genetic variation was in the Hardy-Weinberg equilibrium. We found no significant association between the frequency of left ventricular hypertrophy and any of the genotype groups. In the TT and the TA genotype group, however, left ventricular hypertrophy was associated with increased blood pressure, while no association with increased blood pressure was found in the AA genotype group. It was concluded that the AA group may be at risk of developing left ventricular hypertrophy independent of increased blood pressure.

A 56-year-old man with Brugada syndrome presented with ventricular fibrillation induced by administration of pilsicainide. He had syncope at age 46 years, and his uncle suddenly died of unknown cause. He had taken pilsicainide (150 mg/day) for paroxysmal atrial fibrillation, and suffered from syncope due to ventricular fibrillation. Coved type ST elevation was observed in the V1 lead, and saddle back type ST elevation was observed in the V2 lead. The ST elevation gradually recovered after stopping pilsicainide therapy. No structural heart disease was found. After intravenous injection of pilsicainide, the ST segment elevated in the V1 and V2 leads. Ventricular fibrillation was induced by triple extrastimulation at the right ventricular apex. The diagnosis was Brugada syndrome, and a cardioverter-defibrillator was implanted. Brugada syndrome should be considered before administering pilsicainide.

Objectives: The factors affecting successful conversion of atrial fibrillation using intravenous injection of pilsicainide hydrochloride are unclear. The efficacy of intravenous injection of pilsicainide hydrochloride and the factors affecting successful conversion of symptomatic atrial fibrillation were investigated., Methods: Twenty-six patients[21 men, 5 women, 64 +/- 12 years (mean +/- SD)] with electrocardiographically confirmed, symptomatic atrial fibrillation were treated with intravenous injection 1.0 mg/kg of pilsicainide hydrochloride between October 31, 2000 and February 17, 2003. Successful conversion was defined as termination of atrial fibrillation within 30 min of intravenous injection. Before the injection of pilsicainide hydrochloride, blood pressure, conventional electrocardiography, chest radiography, echocardiography and blood examinations were performed. During and after injection of pilsicainide hydrochloride, blood pressure and conventional electrocardiography were monitored. After injection of pilsicainide hydrochloride, blood examinations were performed., Results: Pharmacological conversion to sinus rhythm was achieved in 7 of 26 patients(27%). The successful conversion group and unsuccessful conversion group showed significant differences in duration of atrial fibrillation(61 +/- 122 vs 12,257 +/- 25,959 hr, p < 0.01), heart rates before injection of pilsicainide (110 +/- 26 vs 87 +/- 26 beats/min, p < 0.05), cardiothoracic ratio(47.8 +/- 2.6% vs 53.5 +/- 5.1%, p < 0.01) and left atrial dimension(38 +/- 7 vs 45 +/- 6 mm, p < 0.05)., Conclusions: Pilsicainide hydrochloride is effective in patients with atrial fibrillation of short duration with small left atrium and rapid ventricular response.