Interferon alfa-2a in the treatment of exudative age-related macular degeneration

Nineteen patiens (20 eyes) with the exudative form of macular degeneration were treated with parenteral interferon alfa-2a. Fifteen patients (16 eyes) had adequate follow-up for evaluation of outcome of the exudative macular lesion. The average follow-up was 8 months (range 5-11 months). Color photographs and fluorescein angiograms were evaluated independently by two masked readers for change in size, presence of fibrosis, and leakage of the neovascular lesion. During the follow-up, none of the exudative lesions resolved: one lesion became smaller, four remained the same, nine enlarged, and two could not be graded based on the photographs. Visual acuity remained 20/40 or better in four eyes. The proportion of eyes with visual acuity of 20/200 or worse increased from 35% at the initial visit to 59 % at the final visit. Ten patients experienced significant but reversible side effects, including weight loss, depression, and/or hematopoietic suppression. The data from these cases do not support any significant treatment benefit from interferon alfa-2a at the doses used in exudative macular degeneration.     

Multiple pilomatricomas associated with myotonic distrophy

Calcifying epithelioma of Malherbe, pilomatricoma, is a benign neoplasm of the skin, originating from primitive cells of the hair matrix, Myotonic dystrophy (Steinert's disease) is an uncommon hereditary disease characterized by myotonia, muscle wasting, cataracts, testicular atrophy and frontal baldness. We present the case of a woman with pilomatricomas and myotonic dystrophy and then we review the relationship between these two disorders.     

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.      

腰椎手术中的移行椎问题

目的：探讨移位椎的定位方法和移行椎对腰椎手术的影响。方法：回顾性分析了52例腰椎疾患手术治疗的病例，其中腰椎间盘突出症26例，腰椎骨折15例，腰椎滑脱9例，腰椎结核2例，术前均经过X线摄片、CT或MRI检杳。结果：腰部疾患合并移行椎的病例并不少见，本组病例占同期腰椎手术病人的5．3％。腰椎出现移行椎，其定位则石L4—S1，L5—L6，L6—S1。结论：腰部疾患合并移行椎时，腰椎数量发生改变，定位诊断非常重要。要确定手术部位，X线定位片(包括术中X线透视定位)、CT或MRI片缺一不可，但必须注意的是，腰椎CT和MRI检查结果是以骶椎为基准定位，也就是从下往上定位，普通X线片是从上往下序列，两定位诊断的差异，手术时必须高度重视。