Familial Dysalbuminemic Hyperthyroxinemia that was Inappropriately Treated with Thiamazole Due to Pseudo-thyrotoxic Symptoms.

We herein report the case of a Japanese woman with familial dysalbuminemic hyperthyroxinemia (FDH) who was initially diagnosed with Graves' disease. Direct genomic sequencing revealed a guanine to cytosine transition in the second nucleotide of codon 218 in exon 7 of the albumin gene, which then caused a proline to arginine substitution. She was finally diagnosed with FDH, which did not require treatment.

Dopamine-Secreting Paraganglioma in the Retroperitoneum.

Pheochromocytomas and paragangliomas, which exclusively produce dopamine, are very rare. Herein, we report for the first time a Japanese case of an exclusively dopamine-producing paraganglioma accompanied by detailed immunohistochemical analyses. A 70-year-old Japanese woman was referred to our hospital for functional examination of her left retroperitoneal mass.

Ectopic ACTH syndrome caused by desmopressin-responsive thymic neuroendocrine tumor.

A 32-year-old Chinese woman with rapid weight gain and progressive edema was found to have typical Cushingoid features. Her endocrine data were consistent with a diagnosis of ACTH-dependent Cushing's syndrome. To differentiate ectopic ACTH syndrome (EAS) from Cushing's disease (CD), various dynamic endocrine and imaging tests were performed.

[Results of the model project to determine the cause of deaths related to medical practice].

A model project to determine the cause of deaths related to medical practice began in 2005. Since 2010, it has been managed by the Japan Medical Safety Research Organization (JMSRO), which is supported financially by the government and a majority of medical societies and organizations. There is a central office in Tokyo and nine local offices nationwide.

Sibling cases of Addison's disease caused by DAX-1 gene mutations.

We report two sibling cases of Addison's disease without any evidence of sexual precocity, adrenal hyperplasia, or autoimmune disease. The diagnosis of primary adrenocortical insufficiency was made at the age of 5 in the younger brother and at the age of 18 in the elder brother. The younger brother had been inactive during infancy and had diffuse skin pigmentation without abnormal external genitalia, while the elder brother had been healthy until the age of 17 when he noticed skin pigmentation and small testes.

Reverse 'see-saw' relationship between Graves' disease and myasthenia gravis; clinical and immunological studies.

Although the association of two distinct autoimmune diseases, Graves' disease (GD) and myasthenia gravis (MG), is rare, the relationships of clinical and immunological activities between the two diseases remain unknown. In the present study, we investigated whether there exist any relationships between clinical and immunological activities of GD and MG as well as any common characteristics of their HLA antigens in five patients with concomitant association with GD and MG. The present study clearly showed positive relationships between the clinical activities of GD and MG in all five cases.

[Clinical evaluation of the cause of death in patients with active pulmonary tuberculosis].

We made a clinical analysis of the cause of death of forty deceased patients with active pulmonary tuberculosis who were admitted to Kawasaki Medical School Hospital, Kawasaki Medical School Kawasaki Hospital, and Asahigaoka Hospital during the period from January 1996 to December 2001. The age of 40 deceased patients (29 males/11 females) ranged from 55 to 93 years old, and were mostly bedridden. Underlying diseases existed in all except one case, and they were respiratory diseases in 9 patients and non-respiratory diseases in 34 patients.

[A case of pulmonary infection induced by both Aspergillus sp. and Mycobacterium tuberculosis during corticosteroid therapy].

An 83-year-old woman with idiopathic thrombocytopenic purpura had received corticosteroid drugs since December 1998. Pulmonary aspergillosis appeared three months later, but improved with administration of itraconazole. When the dose of corticosteroid had to be increased again because of aggravation of the underlying disease after a 20-month gradually decreased use of the drugs, a new infiltration shadow in the left upper and middle fields appeared after one month of increase.

[A case of mixed pulmonary infection with Mycobacterium tuberculosis and M. intracellulare due to familial prevalence].

A 76-year-old woman was admitted to our hospital because of an abnormal shadow on chest radiography and a suspected familial prevalence of pulmonary tuberculosis. Her son had previously been admitted to our hospital with pulmonary tuberculosis and tuberculous pleuritis. In the present case, a diagnosis of pulmonary tuberculosis and atypical pulmonary mycobacteriosis was made on the basis of detection of both Mycobacterium tuberculosis and M.