Cardiac abnormalities in the fragile X syndrome.

Twenty three patients with fragile X syndrome underwent cardiovascular assessment. Echocardiography showed dilatation of the aortic root in 12 (52%) and mitral valve prolapse in five (22%), four of whom had an apical mid-systolic click on auscultation. Patients with fragile X syndrome have cardiac defects similar to those seen in other disorders of connective tissue such as Marfan's syndrome and Ehlers-Danlos syndrome. These, and other somatic features, suggest an underlying connective tissue dysplasia.     

Y chromosome loss in esophageal carcinoma: An in situ hybridization study

Carcinoma of the esophagus shows a strong male predominance and other epidemiologic differences from cancers arising at other sites. In this study, the prevalence of Y chromosome loss in 29 carcinomas of the esophagus and 53 carcinomas arising elsewhere in the aerodigestive tract was assessed by in situ hybridization of formalin-fixed paraffin-embedded tissue sections. Absence of the Y chromosome was defined as (1) negative staining for Y in neoplastic cells with positive staining for Y in immediately adjacent nonneoplastic epithelial and stromal cells, (2) positive staining of neoplastic cells with control probes for chromosomes X and 17, and (3) similar results at different stringencies and levels of protein digestion. According to these criteria, absence of the Y chromosome was observed in 13 of 14 (93%) adenocarcinomas of the esophagus, 8 of 13 (62%) squamous cell carcinomas of the esophagus, and 5 of 53 (9%) carcinomas arising in other sites. For the neoplasms examined, Y chromosome deletion was strongly and selectively associated with carcinomas, particularly adenocarcinomas, of the esophagus (P < .0001). These findings suggest that Y chromosome loss may be pathogenetically significant in these neoplasms. © 1993 Wiley-Liss, Inc.     

On Gordian knots and nooses: aboriginal suicide in the Kimberley

Aboriginal suicide has become an issue receiving national attention because of the association with "deaths in custody". To date little systematic work has been directed to the investigation of suicide among a non-incarcerated Aboriginal population. This paper focuses on deaths by suicide within one geographical area. It identifies two factors, alcoholism and disruption of interpersonal attachments, which may play a causal role in male Aboriginal suicide. The sudden emergence of suicide in this partial descent population, in concert with suicides among incarcerated and non-incarcerated Aborigines elsewhere, suggests that socio-historical forces must be examined to further clarify the phenomenon.     

Impact of clinical history on fracture detection with radiography

The effect of knowledge of localizing symptoms and signs in the detection of fractures was studied. Forty radiographs of the extremities were examined twice by seven radiologists; the sessions were separated by 4 months. In 26 cases, a subtle fracture was present; 14 cases were normal. In half of the cases at each session, the precise location of pain, tenderness, or swelling was provided. The observer was asked to determine if the case was normal or abnormal (provide the exact location of the fracture) and to indicate the degree of confidence in the diagnosis. Responses were converted to a numeric scale for analysis. Analysis of receiver operator characteristic parameters indicates that clues regarding location of trauma facilitate detection of fractures. The improvement is based largely on an increased true-positive rate without an increased false-positive rate, regardless of the decision criteria of the radiologist (overall willingness to "overread" or "underread"). This has direct clinical applicability and reinforces the plea of radiologists for precise clinical information.     

Variability in portion sizes of commonly consumed foods among a population of women in the United States

The use of food frequency questionnaires for measuring dietary intake has become widespread in epidemiologic studies. It has been suggested that inquiring about a person's usual serving size of each food, in addition to the frequency of consumption, will improve the accuracy of this method. This approach implies that individuals characteristically eat a specific amount of any particular food, and that this amount can be reported with reasonable accuracy. To investigate the variability of portion sizes, the authors analyzed data for 68 commonly consumed foods, based on four one-week weighed diet histories recorded by 194 Boston-area women aged 34-59 years during 1980 and 1981. For each food, total population variance in portion size was partitioned into within-person (intraindividual) and between-person (interindividual) components. For all but seven food items (yogurt, liver, mixed vegetables, watermelon, pancakes/waffles, cold cereal, and cooked cereal) the within-person variance in portion size exceeded the between-person variance. The mean of the within-person to between-person variance ratios, after exclusion of two outlying foods, was 3.4 for untransformed portion sizes, and 3.2 after portion sizes were loge-transformed. Foods with a high within-person variance also tended to have a high between-person variance. The dominance of within-person variance in portion sizes suggests that the concept of usual portion size is complex, and that subjects may experience substantial difficulty in specifying their "usual" portion size. The smaller contribution of between-person variance to the total variance in portion size suggests that specification of a standard portion size by the investigator may not introduce a large error in the estimation of food and nutrient intake.     

Opportunities and challenges for the clinical utilization of functional electrical stimulation

Clinical applications of electrical stimulation for effecting change in the damaged or disabled nervous system are in their infancy. This technique is extremely powerful, because any neural structure that is electrically excitable can potentially be affected. Although early attempts to apply electrical stimulation were limited by insufficient physiological knowledge and undeveloped technology, developments over the past two decades now provide a strong base for clinical applications. Clinical systems for bladder control and respiration have been in use for many years. Some applications of FES to restore hand function and walking are in multicenter testing, whereas many others are being studied for clinical feasibility at single sites. Applications are focusing on safety and efficacy, as well as on clinical outcome measures to address the issues posed by the regulatory and reimbursement processes. As clinical systems become more routine, issues of multiple system applications will need to be addressed. Present and future applications of functional electrical stimulation may be expected to significantly enhance independence and improve the quality of life for individuals with central nervous system dysfunction.     

Long-term clinical outcome of patients with tricuspid atresia. I. "Natural history"

The clinical course and outcome of 111 patients with tricuspid atresia, seen during 1972-1982, were reviewed. All clinical and investigation data, progress and management were analysed. The mean age at presentation was 21.9 +/- 8.8 days. Patients with reduced pulmonary blood flow presented earlier. Patients with normal or increased pulmonary blood flow usually presented in heart failure. "True" natural history was observed in 13 unoperated patients. Six of these died at the age of 7 days to 8 months (mean 32.2 days). Seven patients survived without surgery for 11 months to 24 years, the older ones developing pulmonary vascular obstructive disease. The overall mortality in the whole series was 32.4% (36/111), the mean age at death was 3.1 years (range 3 days-48 years). The mortality rate within the first year of life was 22.5%. The mean age of survivors at follow-up was 10.7 +/- 0.9 years (range 11 months-27 years).