Women worried about their familial breast cancer risk--a study on genetic advice in general practice

AIMS: To ascertain whether women who consulted their GP because they perceived themselves as at increased risk of familial breast cancer were indeed at increased risk, and to evaluate potential strategies for assessing genetic risk of breast cancer in general practice. METHODS: Sixty-seven out of 81 women who had consulted their GP for advice about their possible increased risk of developing breast cancer due to breast cancer in the family were interviewed. Familial breast cancer risk was assessed by a clinical geneticist. This assessment was compared with two recent guidelines for referral for genetic counselling. RESULTS: More than half (52%; n = 35) the women had a relative risk of two and over for developing breast cancer, while another half of these 35 (25%; n = 17) had a relative risk of three and over. All the women (n = 17) with a relative risk of three and over were identified by means of the two current guidelines for referral for genetic counselling, while more than half of the women (61%; n = 11) with a relative risk between two and three were identified. CONCLUSIONS: More than half the women concerned about their familial risk of breast cancer are indeed at increased risk of breast cancer. Current guidelines correctly identify women at high risk. However, doubts about the health gain and feasibility of referral warrant caution, and need further investigation.      

Optic disc swelling in Crohn's disease

Purpose: To provide a review of the causes of optic disc swelling in patients suffering from inflammatory bowel disease. Methods: Two illustrative cases of bilateral optic disc swelling are presented: one in a patient known to have Crohn's disease and the other in a patient whose investigations revealed the disease. The possible causes of optic disc swelling in inflammatory bowel disease, based on a literature review, are tabulated and discussed with reference to the presented cases. Results/Conclusions: Optic disc swelling is a rare complication of inflammatory bowel disease. Previously reported cases have been attributed to peripapillary inflammation, optic disc ischaemia or intracranial hypertension. Postulated causes of optic nerve ischaemia include a local vasculitis or general hypercoagulability. The underlying aetiology of intracranial hypertension is often elusive. Older studies suggest a relationship between corticosteroid treatment and/or iron deficiency anaemia, while modern imaging emphasises the need to exclude dural venous sinus thrombosis.     

The cellular mechanism underlying neuronal degeneration in glaucoma: Parallels with Alzheimer's disease

Evidence is presented that the characteristic pattern of neuronal degeneration associated with glaucoma is due to a combination of the persistent physical damage to axons at the level of the lamina cribrosa and the associated neuronal reaction to this kind of trauma. The class of neuronal cytoskeletal proteins known as the neurofilament triplet are crucially involved in the reaction to physical damage and the selective localization of these proteins to larger retinal ganglion cells may underlie their susceptibility to eventual degeneration. The appearance of glaucoma-like neuronal pathology in Alzheimer's disease may follow the reaction of neurofilament-containing retinal ganglion neurons to persistent damage to their axons by β-amyloid plaque formation in subcortical visual centres.     

T2 values in the human brain: comparison with quantitative assays of iron and ferritin

Magnetic resonance (MR) imaging with a whole-body imager was performed in 10 fresh, unfixed whole human brains selected randomly from cadavers. All subjects were neurologically intact before death. T2 time constants were measured within the caudate nucleus, putamen, globus pallidus, cortical gray matter, subcortical white matter, and optic radiation. These regions were then excised, and T2 values were measured again with a 1.5-T MR spectrometer. Quantitative assays of iron, ferritin, and protein from these areas were then performed. Iron concentration varied significantly among brain regions, whereas ferritin and protein concentrations were constant among brain regions and among individuals. Neither iron nor ferritin concentration showed any consistent correlation with T2 values. Histologic examination of brain micro-sections with iron- and ferritin-specific stains of demonstrated poor correlation with biochemical assays of ferritin and iron concentrations. Results indicate that T2 values correlate poorly with iron and ferritin concentrations found in neurologically intact brains.