Respiratory symptoms among elderly people in the New Forest area as assessed by postal questionnaire.

This study was carried out to estimate the prevalence of respiratory symptoms among people aged 65 years and older and assess the value of a postal survey in obtaining this information. A questionnaire was sent to 2011 subjects (957 men) drawn by age-stratified random sampling from the age-sex registers of four New Forest group practices (1:3.3 sample). A total of 1803 replied, a 96.2% response after excluding 136 who had died or moved from the area. The accuracy of replies was verified for 355 (20%) randomly selected subjects. Forty per cent had no respiratory symptoms. Exertional breathlessness was common (38%), increasing in prevalence with age but not with smoking history, and was the only symptom reported by 10% of subjects. Only 14.2% were current smokers; more of the subjects aged 85 years and over were lifelong non-smokers. Two hundred and ninety-six (16.4%) had chronic bronchitis, which was more common among smokers; 151 (8.4%) gave a history of asthma, of whom half (76) had active asthma, which was slightly less common among the very elderly subjects. Only 489 (27.1%) of subjects had seen their doctors with chest symptoms during the preceding 2 years.     

Proximal femoral focal deficiency: radiologic analysis of 49 cases

Proximal femoral focal deficiency, an uncommon congenital anomaly, necessitates early radiologic classification for surgical planning and treatment. Objective radiographic criteria, including femoral length index, acetabular depth index, acetabular angle index, and shape of the proximal femur were determined in 49 patients before cartilaginous ossification of the femoral capital epiphysis; final classification was based on follow-up radiographs or findings at arthrography or surgery. These parameters were analyzed to determine the accuracy and contributions of each in classification. Correct classification into one of three groups was possible in 86% of cases with use of three of the parameters: femoral length index, acetabular depth index, and shape of the proximal femur. The acetabular angle was found to contribute insignificantly to classification. Magnetic resonance imaging, used in only one case, depicted the nonossified cartilaginous femoral capital epiphysis, thus obviating the need for invasive diagnostic procedures and facilitating early classification.     

A fetus with an X;1 balanced reciprocal translocation and eye disease.

A 19 week female fetus is described with a de novo X;1 reciprocal balanced translocation, with the breakpoint on the X chromosome at Xp11.4, and eye pathology consistent with the early stages of Norrie disease. The fetus seems to be an example of a female manifesting an X linked recessive disease, and it was shown that the normal X chromosome was completely inactivated in all cells examined. Norrie disease has been mapped to Xp11.3, and fluorescence in situ hybridisation studies showed that the Norrie disease gene had not obviously been disrupted. Mutation screening by SSCP analysis showed no aberrant fragments of the coding region of the gene. Several eye disease genes map to the same region of the X chromosome, but are excluded on grounds of pathology. One possibility is that this fetus has a Norrie-like eye disease caused by the mutation of another gene located at Xp11.4. If this is so, there are implications for prenatal diagnosis.     

Life expectancy in British Marfan syndrome populations

A total of 206 patients with Marfan syndrome were ascertained throughout genetic clinics in Wales and Scotland during the period 1970–1990. There were 45 deaths representing 22% of the cohort. Mean age at death was 45.3 ± 16.5 years. 50% median cumulative survival in the total cohort (n = 206) was 53 years for males and 72 years for females. Multivariate analysis confirmed severity as the best independent indicator of survival. These findings and survival curves will assist in the counselling of British families and individuals with Marfan syndrome.