Yoshitomo Miyamoto

Arg389Gly polymorphism of the human β1-adrenergic receptor in patients with nonfatal acute myocardial infarction

BACKGROUND We sought to investigate the relation between the Arg389Gly polymorphism in the human beta1-adrenergic receptor (ADRB1) gene and acute myocardial infarction (AMI). It was previously reported that augmented sympathetic activity might play an important role as a trigger of AMI by enhanced hemodynamic or mechanical forces through ADRB1 activation. Recently, a common polymorphism has been identified at amino acid position 389 (Arg or Gly) of the human ADRB1, within a region important for receptor-Gs protein coupling and subsequent agonist-stimulated adenylyl cyclase activation. METHODS To investigate the relation between the Arg389Gly polymorphism in the ADRB1 gene and AMI, we genotyped 354 patients with AMI and 354 age- and sex-matched control subjects by use of polymerase chain reaction amplification and the restriction fragment length polymorphism analysis. RESULTS The prevalence of the Arg389 homozygote (CC) genotype was significantly more frequent in patients with AMI than in control subjects (68.1% vs 47.2%, P <.0001). In logistic regression models, the odds ratio (OR) of Arg389 homozygote (CC) versus Arg389Gly heterozygote (CG) + Gly389 homozygote (GG) genotypes between control subjects and patients with AMI was 2.86 (95% CI 1.92-4.26, P =.0001). The association of the Arg389Gly polymorphism of ADRB1 with AMI was statistically significant and independent of other risk factors. CONCLUSION Our findings suggest that the genotype of Arg389Gly polymorphism in the human ADRB1 gene is associated with AMI.

Xanthoma disseminatum with intracranial involvement: case report and literature review

Xanthoma disseminatum (XD) is a rare form of normolipemic mucocutaneous xanthomatosis of unknown etiology that is currently classified as a benign non-Langerhans cell histiocytosis. The disease is characterized by the eruption of hundreds of symmetrically distributed, rapidly coalescing cutaneous papules, initially red–brown then yellow, involving the face, trunk, flexural, and intertriginous areas. Occasional involvement of mucous membranes, including conjunctivae, lips, tongue, buccal mucosa, gingiva, and palate, has been reported. Respiratory tract, including the pharynx, larynx, trachea, and bronchi, also may be involved. In addition, involvement of the pituitary, with accompanying diabetes insipidus, is present in 30–50% of patients. However, there have been few cases of XD with central nervous system (CNS) involvement outside the pituitary ⁄ hypothalamus. CNS lesions may be associated with headache, nausea, vomiting, dizziness, seizures, ataxia, and visual impairment or loss. Progressive CNS lesions carry a poor prognosis. The mortality rate has been reported to be 63% in patients with intracranial disease outside the pituitary ⁄ hypothalamus and 100% with posterior fossa involvement. Thus, CNS complications account for the majority of deaths related to XD. We present a 30-year-old Japanese man with mucocutaneous and intracranial XD.

High-grade neuroendocrine carcinoma of the lung presenting an unusual spread mimicking pleural mesothelioma associated with dermatomyositis.

Neuroendocrine tumors of the lung comprise a heterogeneous group of tumors that represents a spectrum of disease from typical carcinoid tumors to the high-grade neuroendocrine carcinomas (large-cell neuroendocrine carcinomas and small-cell carcinomas). The high-grade neuroendocrine carcinomas are characterized by early metastasis and poor prognosis. The peripheral location and especially the massive pleural spread are rare for a high-grade neuroendocrine carcinoma. We report a case in which a high-grade neuroendocrine carcinoma, associated with dermatomyositis, presented an unusual pattern of progression, mimicking malignant pleural mesothelioma on diagnostic imaging.