JPO1/CDCA7, a novel transcription factor E2F1-induced protein, possesses intrinsic transcriptional regulator activity.

JPO1/CDCA7 was originally identified as a c-Myc-responsive gene that participates in neoplastic transformation. Here, we report the identification of JPO1/CDCA7 as a direct transcriptional target of transcription factor E2F1. We demonstrated that overexpression of E2F1 by adenoviral-mediated gene transfer upregulated JPO1/CDCA7 mRNA expression in human cells.

Lung carcinoma metastasis presenting as a pineal region tumor.

An autopsy case is reported of pineal metastasis from lung adenocarcinoma, which is a rare manifestation of the disease. A 75-year-old man who had been found to have a lesion in the lung by chest CT 2 years previously, became aware of head heaviness and then suffered consciousness disturbance. Brain MRI revealed a solitary mass in the pineal region with hydrocephalus.

Juvenile-onset generalized neuroaxonal dystrophy (Hallervorden-Spatz disease) with diffuse neurofibrillary and lewy body pathology.

We describe an unusual case of Hallervorden-Spatz disease (HSD). After presenting with limb rigidospasticity at the age of 9 years, our patient developed progressive dementia, spastic tetraparesis and myoclonic movements, leading to akinetic mutism. He died of pneumonia at the age of 39 years.

[The clinical features of patients with probable dementia with Lewy bodies--report of 4 cases].

Recently, McKeith et al. proposed criteria for the clinical diagnosis of dementia with Lewy bodies (DLB). In our study the clinical features of four patients with progressive dementia, visual hallucinations, delusions, and parkinsonism were compatible with those of DLB.

Hypertrophic cardiomyopathy in congenital myotonic dystrophy.

Involvement of the cardiac conduction system is a common clinical feature in myotonic dystrophy, whereas the association of primary myocardial abnormalities has rarely been reported. A patient with a severe form of congenital myotonic dystrophy who developed fatal left ventricular hypertrophy at 3 months of age and died at 2 years of age is reported. Serial ultrasonographic studies revealed progressive left ventricular hypertrophy accompanied by outflow obstruction of the left ventricle.