A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H).

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant congenital disease characterized by progressive heterotopic endochondral osteogenesis with great-toe malformations. A 617G > A (R206H) mutation of the activin A type 1 receptor gene (ACVR1) has been found in all previously reported patients with FOP. Thus, this is one of the most specific of all disease-associated mutations.

Pulmonary varix mimicking arteriovenous malformation.

We report here a case of a 44-year-old female with a pulmonary varix. The patient was asymptomatic; a routine chest X-ray incidentally revealed a serpiginous mass in the left hilar region. Computed tomography revealed a serpiginous, dilated vascular structure in the left upper lobe that continued into the lower lobe and was suggestive of an arteriovenous malformation.

[Pathological study on abducent paralysis of the vocal cord in a patient having multiple system atrophy with nasogastric intubation].

A 74-year-old man developed instability of gait from age 64, difficulty in writing from age 66 and dysarthria-hypohidrosis from around age 67. These symptoms progressed slowly accompanied with orthostatic hypotension and dysarthria, which decline his ADL. At age 71, he was admitted to our hospital and underwent nasogastric intubation.

[Case of chronic eosinophilic bronchiolitis associated with bronchial asthma].

A 62 year-old woman presented with diffuse, centriacinar nodular densities on chest radiography and CT, and an increase of peripheral blood eosinophils, four years after diagnosis of bronchial asthma. Diffuse panbronchiolitis was diagnosed, and was treated with erythromycin for a long period. One year later, she noticed exertional dyspnea, and her chest radiograph showed increased nodular densities.

[A case of cervical and mediastinal lymph nodes tuberculosis, tuberculous pleurisy, spinal caries and cold abscess in the anterior chest wall].

A 61-year-old woman with schizophrenia that had been treated in a psychiatric hospital was admitted to our hospital because of subileus and back pain. Though subileus was improved, she had a sudden attack of fever 7 days later and developed right pleural effusion, a cold abscess in the anterior chest wall and swelling of a thumb-sized right cervical lymph node which broke through the skin. We made a diagnosis of cervical and mediastinal lymph nodes tuberculosis, tuberculous pleurisy, spinal caries and cold abscess in the anterior chest wall due to the biopsy findings of the specimen taken from the cervical lymph node, examination of pleural effusion, chest CT, bacteriological examination of the cold abscess and spinal MRI.

[A case of pulmonary mucormycosis diagnosed through video-assisted thoracoscopic surgery--report of a case].

We report a case of pulmonary mucormycosis successfully treated by medical methods only. The patient was a 51-year-old man with diabetes mellitus who presented with general fatigue and appetite loss. His chest radiograph and CT scan showed multiple thin-walled cavities in the left upper lobe.

[Clinical study on the cases in which INH or RFP was discontinued during treatment for pulmonary tuberculosis].

Short course regimens; 2HRZ (E)(S)/4HR (E), 6HRS (E)/3-6HR and 6-9HR have been accepted as a standard chemotherapy (SC) for initial treatment of pulmonary tuberculosis in Japan. We studied the frequency of the treatment completion, the causes of the treatment failure and the outcome of the patients in whom INH or RFP was discontinued within 6 months after starting SC. The subjects included 597 newly diagnosed culture positive pulmonary tuberculosis patients admitted to 16 national hospital in 1996.

[Follicular bronchiolitis associated with pulmonary tuberculosis--report of a case].

The patient, a 39-year-old man, presented in May 1997 with an untreated persistent cough with excessive sputum of 5 years' duration. He was admitted to hospital because of the severity of the symptoms and the presence of acid-fast bacilli in his sputum. These bacilli were identified as Mycobacterium tuberculosis by the polymerase chain reaction method.