An earlier study has shown that FAP patients with mutations in codons 136-302 of the APC gene do not develop congenital hypertrophy of the retinal pigment epithelium (CHRPE), whereas those with mutations in codons 463-1387 regularly do. Here we present data on 36 patients from 20 families with mutations in codons 1445-1578. These patients lack CHRPE. Furthermore, with the exception of three prepubertal children all patients with mutations in codons 1445-1578 developed desmoid tumours. This relationship between certain extracolonic manifestations and site of the APC mutation points to a specific role of the APC protein in different tissues.
Lipid peroxide (LPO) levels, as determined by high-performance liquid chromatography (HPLC) and by the thiobarbituric acid (TBA) method, and myeloperoxidase (MPO) activity in vitreous of patients vitrectomized because of proliferative diabetic retinopathy were compared with LPO levels and MPO activity in vitreous of patients with no vitreoretinal proliferation. Both LPO levels and MPO activity were significantly elevated in the vitreous of patients with fibrovascular vitreoretinal proliferations secondary to diabetes. The TBA method produced higher values for LPO levels than did the HPLC method. The correlation between the two methods was 0.94. Our results suggest that both oxygen-free radicals and inflammation-related reactions can participate in the pathogenesis of diabetic retinopathy.
Scheimpflug photography and ultrasound biomicroscopy allow measurement of anterior chamber angle width. To analyze the value of both diagnostic tools, measurements of the same subjects were correlated. Anterior chamber angle width in both eyes of 20 volunteers without any ophthalmological case history was measured in eight meridians. Scheimpflug photographs were recorded on Kodak T-max 400 black-and-white film using a Topcon SL-45 camera. Measurement of chamber angle was done with the aid of a self-programmed PC software. Ultrasound biomicroscopíc measurements were obtained using a Humphrey UBM 840 system with a 50-MHz transducer. The chamber angle was measured as described by Pavlin et al. The data of both methods were correlated and analysed for statistically significant differences using a paired t test (level of significance p≤ 0.05). Both methods showed similar changes in chamber angle width and were able to document a variation in angle width with regard to location. The correlation averaged at 0.64. In 4 meridians significant differences were found between the two methods. Scheimpflug photography, however, is unable to visualize directly the angle itself. Both methods are limited by the fact that the angle is defined by curvilinear structures, i. e. posterior corneal surface and anterior iris surface. Scheimpflug photography is able to document changes in angle configuration. Ultrasound biomicroscopy, however, is a more precise method, because it allows direct documentation of all structures involved in chamber angle configuration.
Cytogenetically visible deletions that include the adenomatosis polyposis coli (APC) locus have repeatedly been reported in mentally handicapped polyposis patients. We report on a family with a submicroscopic deletion of about 200 kb including more than the 3' half of the APC gene and the adjacent DP1 gene. The deletion was detected by linkage analysis with flanking and intragenic markers and proven by in situ hybridisation with intragenic cosmid clones. All the familial adenomatous polyposis (FAP) patients and persons at risk in the family show normal behaviour and intelligence. Thus, it is conceivable that at least some of the FAP patients in whom mutations could not be identified by routine methods may have large but submicroscopic deletions.
Fluoroscopically guided balloon dacryocystoplasty is a feasible nonsurgical therapy in canalicular obstructions with good clinical results that may be used as an alternative to surgical procedures. In patients with complete obstructions stent placement is possible but further investigations are needed to assess the procedural and long-term results.
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