Association of MICA alleles and HLA-B51 in Italian patients with Behçet's disease.

Objective: To evaluate the distribution of the MHC class I chain related gene A transmembrane (MICA-TM) alleles in Italian patients with Behçet's disease (BD), and to investigate the relative contribution of MICA alleles and HLA-B51 in the susceptibility and specific clinical features of BD.

Methods: A total of 69 consecutive Italian patients who satisfied the International Study Group criteria for BD were followed at rheumatology, ophthalmology, and neurology units during a 3 year period (1997-99). We selected 130 healthy subjects from the same geographic areas as controls.

Optic neuropathy in Behçet's disease. Report of two cases.

Orbital magnetic resonance imaging demonstrated increased signal of the optic nerve in short time inversion recovery (STIR) images of two young women with unilateral visual blurring. In both, recurrent oral and genital ulcerations and papulopustular lesions appeared within the next 14-15 months, respectively, allowing a diagnosis of Behçet's disease. Optic neuropathy may be an early manifestation of Behçt's disease and clinical follow-up is crucial for its diagnosis.

Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.

An Italian pedigree including two sisters and their mother affected by a neuro-ophthalmic disease characterised by retinitis pigmentosa, ataxia, and psychomotor retardation is reported. Molecular analysis of mitochondrial DNA showed the presence of heteroplasmic 8993 point mutation in the subunit 6 of the ATPase gene. The clinical features and genetic findings in this family were comparable with those recently described in an English family.

One-step purification by high-performance liquid chromatography of retinal S-antigen.

A number of subsequent chromatographic techniques are commonly used, over a period of a few days, in order to obtain pure retinal S-antigen (S-Ag), a 50,000-dalton molecular weight protein with strong uveitopathogenic properties. A rapid high-performance liquid chromatographic technique employing a TSK-G3000 SWG gel-filtration column is described for the purification of bovine S-Ag. This single chromatographic step produced S-Ag preparations of high purity and recovery when compared to the conventionally isolated S-Ag.

Neuroophthalmological implications of the radiological finding of the transverse sinus.

Visualization of transverse intracranial sinuses by means of standard radiograms of the skill is a rather unusual finding. In order to detect the radiological evidence of this important intracranial venous collector, the authors examined 5.638 radiograms, collected since January 1982 until December 1986 at the Neuroradiological Ophtalmic Centre of the University of Bologna.