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Mutations in the hepatocyte nuclear factor (HNF)-1 beta lead to type 5 maturity-onset diabetes of the young (MODY5). HNF-1 beta forms a homodimer or a heterodimer with HNF-1 alpha and regulates various target genes. HNF-1 beta mutations are rare, and no functional analysis has been performed in conjunction with HNF-1 alpha. HNF-1 beta is expressed in the(More)
BACKGROUND Infection is a serious complication after liver transplantation. Immunization is one means of controlling infections. The objective of this study was to investigate the efficacy and safety of simultaneous administration of several vaccines before transplantation and the efficacy and safety of administration under immunosuppressive conditions(More)
ICF syndrome is a rare autosomal recessive disorder characterized by immunodeficiency, centromeric instability, and facial anomalies. It is caused by mutations in a de novo DNA methyltransferase gene, DNMT3B. We here report the first three Japanese cases of ICF syndrome from two unrelated families. All patients had typical facial dysmorphism and(More)
Net sodium balances in humans are maintained through various ion transporters expressed along the entire nephron. Among these ion transporters, epithelial sodium channels (ENaC) located along the aldosterone-sensitive distal nephron (ASDN) play a pivotal role in the homeostasis of sodium balance. This is supported by analyses of inherited hypertensive(More)
Thyroglobulin abnormality is a rare cause of congenital hypothyroidism and only a limited number of mutations in the thyroglobulin gene have been reported. We analyzed the thyroglobulin gene in a patient with congenital goitrous hypothyroidism. This girl was identified with hyperthyrotropinemia in a neonatal mass-screening test. The patient had goiter, and(More)
BACKGROUND The optimal atrioventricular (AV) delay setting is important for achieving optimal AV synchrony in patients with an implanted DDD pacemaker. Using pulsed Doppler echocardiography is the most common method of predicting the optimal AV delay, but it is a complicated and time-consuming method. Therefore, an automatic optimizing function of the AV(More)
PURPOSE To predict the optimal atrioventricular (AV) delay using the phonocardiogram (PCG). METHODS We studied 12 recipients of cardiac resynchronization therapy (CRT) system and eight recipients of dual-chamber pacemakers implanted for AV block with normal left ventricular (LV) function. The amplitude of the first heart sound (S1) was recorded by PCG and(More)
Atrial overdrive provides the best opportunity to suppress atrial arrhythmias. Atrial preference pacing (APP) algorithm has been designed to achieve a high percentage of atrial pacing. The aim of this study was to assess the efficacy of APP algorithm in patients with implanted pacemakers and tachycardia-bradycardia syndrome. The subjects were 17 patients(More)
BACKGROUND The presence of coronary microvascular dysfunction (CMD) is an important prognostic marker for coronary artery disease (CAD) patients. The purpose of this study was to investigate whether the CHADS2 score is associated with CMD evaluated by magnetic resonance imaging (MRI). MATERIALS AND METHODS One hundred forty three patients with known or(More)
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