X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features

The radiologic studies of 38 essentially untreated adults with X-linked hypophosphatemia (XLH) were reviewed to determine the prevalence of radiologic features, to compare the findings in men and in women, and to elucidate the natural history of the disease by comparing the findings in young, intermediate-age, and older patients. Bone-reinforcement lines were common, but no characteristic mineral mass alteration was established. Looser zones were more prevalent in older subjects. Osteoarthritis was common, occurring in the ankles, knees, feet, sacroiliac joints, and wrists. Enthesopathy was infrequent in the younger group but was present in every member of the intermediate and older groups and was often accompanied by extra ossicles. Curvatures of the lower-extremity long bones were common in all age groups. Three new skeletal alterations in XLH were found to be common: flaring of the iliac wings, trapezoidal distal femoral condyles, and alterations in talar morphology, including shortening of the talar neck and flattening of the talar dome. Technetium-99m methylene diphosphonate scintigrams of 17 subjects were often abnormal, depicting bowing deformity and focal tracer accumulation in diaphyseal cortices and in periarticular and extraarticular regions. The mean metabolic index was moderately elevated (4.0). Both radiographic and scintigraphic findings were more severe in men, consistent with hemizygosity. The natural history of untreated XLH in both sexes is characterized by the development of a variety of age-related skeletal abnormalities during adulthood.     

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.      

Lung lesions: correlation between viewing time and detection

The influence of viewing time on the detectability of subtle and obvious lung cancers was studied. Frontal chest radiographs of 40 patients with subtle cancers, 40 patients with obvious cancers, and 40 healthy control subjects were shown to four observers for four different viewing times (0.25 second, 1 second, 4 seconds, and unlimited time). Receiver operating characteristic analysis was used to compare the detectability of lesions. Performance was degraded as viewing time decreased. The true-positive fractions for subtle and obvious cancers were 30% and 70% at 0.25 second and 74% and 98% at unlimited viewing time, respectively, for a given false-positive fraction of 20%. Thus, even with unlimited viewing time, the false-negative fraction for subtle cancers was 26%. The difference in detectability between subtle and obvious lung cancers was exaggerated at 1.0 second compared with 4 seconds and unlimited viewing time. The following conclusions were reached: (a) a substantial proportion of subtle lung lesions are missed, even with unlimited viewing time; (b) a large proportion of obvious lung cancers are detected with flash viewing; (c) the detectability of lesions decreases considerably as viewing time becomes less than 4 seconds; and (d) differences in detectability are exaggerated by short viewing times.