Genetic analysis of Brugada syndrome in Western Japan: two novel mutations.

BACKGROUND: Brugada syndrome is a form of idiopathic ventricular fibrillation characterized by right bundle-branch block pattern and ST elevation in the right precordial leads of the ECG. The SCN5A gene encodes the alpha-subunit of the human heart sodium channel, which plays a critical role in cardiac excitability, and mutations of SCN5A could underlie Brugada syndrome. METHODS AND RESULTS: To detect mutations of SCN5A, DNA samples from 12 Japanese patients with Brugada syndrome were analyzed using direct sequencing. Two patients had novel mutations, G292S and S835L, but no other mutations of SCN5A were detected in the remaining patients. The first mutation, G292S, was identified adjacent to the pore-lining region between the DIS5 and DIS6 transmembrane segments of SCN5A, and the second mutation, S835L, was in the intracellular loop connecting the DIIS4 to DIIS5. Both mutations were not detected in 100 unrelated control subjects. CONCLUSION: Two novel SCN5A mutations have been found in Japanese patients with Brugada syndrome.     

A case of intractable hemoptysis originating from the branches of the right subclavian artery, successfully treated with arterial coil embolization]

A 30-year-old woman was admitted because of persistent and severe hemoptysis in November 2005. She had been given a diagnosis of interstitial pneumonia (IP) and pulmonary aspergilloma in 2001, and she was treated with oral prednisolone and itraconazole. However she had persistent and intractable hemoptysis. Multi-detector row computed tomography (MDCT) revealed that hemoptysis from the right upper lobe did not originate in bronchial arteries, but the abnormal branches of the right subclavian artery. Surgery was not performed because of her pulmonary function, but she was successfully treated by non-bronchial arterial coil embolization. At 10 months after the embolization, hemoptysis has not recurred. MDCT was very useful for diagnosing the cause of hemoptysis and selective nonbronchial arterial coil embolization might be helpful in treating intractable or refractory hemoptysis.     

Case of idiopathic and complete appendiceal intussusception

Appendiceal intussusception is a rare disease in which the appendix invaginates into the cecum. It is often caused by organic diseases. The present case involved an appendiceal intussusception without an organic disease, and laparoscopic resection of part of the cecum was performed. Appendiceal intussusception has various causes, including malignant diseases. Therefore, diagnosis and selection of operative method are complex and could potentially lead to an excessively invasive option. By performing SILS with a multiuse single‐site port, we were able to provide an appropriate, non‐invasive treatment that had a good esthetic outcome.     

Diffuse hepatic calcification as a sequela to shock liver

A 31-yr-old Japanese woman who was on chronic hemodialysis for 3 yr died of intractable congestive heart failure. Three years before death, the patient was in a state of shock for 48 h due to ventricular tachycardia and gastrointestinal bleeding, which was followed by marked elevation of serum transaminase. Four months later, abdominal plain radiography demonstrated diffuse hepatic calcification. At autopsy, microscopic examination of the liver revealed parenchymal necrosis and tiny calcifications in the central to midzonal area of the lobule. Calcification in the degenerative area of the hepatic lobule occurred subsequent to parenchymal ischemia after overt shock that lasted for 2 days. Although a definitive explanation for the calcification was not obtained, it may be related to the disturbances of intracellular Ca2+ homeostasis as a result of ischemic liver injury or it may be related to an elevated calcium-phosphorus product in the uremic state.     

Correction to: Quantitative evaluation of anti-resorptive agent-related osteonecrosis of the jaw using bone single photon emission computed tomography in clinical settings: relationship between clinical stage and imaging

Annals of Nuclear Medicine -     

Clinical presentation of community-acquired Chlamydia pneumoniae pneumonia in adults

STUDY OBJECTIVE: To investigate the clinical presentation of community-acquired Chlamydia pneumoniae pneumonia in adults. DESIGN: Prospective study. SETTING: Kawasaki Medical School Hospital, Kawasaki Medical School Kawasaki Hospital, and Kurashiki Daiichi Hospital in Japan. PARTICIPANTS: Forty patients with community-acquired pneumonia with C pneumoniae as the only pathogen identified admitted to three hospitals between April 1996 and March 2001 and their clinical presentations were compared to patients with Streptococcus pneumoniae and Mycoplasma pneumoniae pneumonia. MEASUREMENTS: The diagnosis of C pneumoniae infection was based on isolation and serologic testing of antibodies by the microimmunofluorescence test. RESULTS: The clinical presentations, except for shortness of breath, were similar for the three major etiologic agents. The mean temperature of C pneumoniae patients on hospital admission was 37.9 degrees C, which was lower than that of patients with S pneumoniae and M pneumoniae. The mean WBC count on hospital admission was lower in the patients with C pneumoniae (mean, 9,100/microL) than in those with S pneumoniae pneumonia but higher than in those with M pneumoniae pneumonia. No patients required respiratory support or admission to an ICU, and no deaths occurred among the C pneumoniae pneumonia patients. CONCLUSIONS: Our results indicate that C pneumoniae pneumonia as a single etiologic agent is mild and that the underlying conditions and clinical symptoms closely resemble those of S pneumoniae pneumonia. However, the physical examinations, laboratory findings, and prognostic factors of the C pneumoniae patients resembled those of patients with M pneumoniae pneumonia.