Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum.

Tracheoesophageal fistula, with or without esophageal atresia (TEF/EA) appears to be a defect of blastogenesis, as is the oculoauriculovertebral (Goldenhar) spectrum (OAVS), with which it has occasionally been associated. We reviewed the records of all OAVS patients evaluated through the University of South Florida Regional Genetics Program between 1985 and 1993. Of 60 OAVS patients, three had TEF/EA. These results suggest that TEF/EA in association with OAVS is underreported. The occurrence of TEF/EA should prompt a thorough search for other known anomalies of OAVS.

Cardiac size and motion during water immersion: implications for volume homeostasis.

Prior work has shown that head-out water immersion (WI) produces a prompt central hypervolemia, a natriuresis, and a diuresis. To assess if cardiac chamber enlargement modulates these effects, we measured cardiac size, shape, wall motion, and cardiac displacement via serial underwater two-dimensional echocardiography. Six normal volunteers underwent 2.5 hours of WI to the neck, seated, at 34.5 degrees C. Recovery was 30 minutes. The size of both atria increased significantly but transiently during the study (p less than 0.0001 for left atrium, and p = 0.0020 for right atrium). Both atria returned to baseline size during WI. Moreover, for left atrium there was a small overshoot in recovery. Neither left ventricular nor right ventricular dimensions nor ejection fraction changed significantly. Also, no shape changes were detected, although WI was associated with upward and lateral displacement of the acoustic windows. Correlation coefficients (r) for left atrial, or right atrial size vs urinary excretion of sodium or urine volume size ranged from 0.05 to 0.36. These results, in sum, suggest that strong compensatory mechanisms are counteracting the effect of WI on distended cardiac receptors, and that cardiac receptor activation alone does not constitute the afferent limb of the reflex mediating the renal effects of head-out WI.

Classification of left ventricular thrombi by their history of systemic embolization using pattern recognition of two-dimensional echocardiograms.

Although one can diagnose left ventricular (LV) thrombi by two-dimensional echocardiography (2DE), the factors associated with peripheral embolization, given a 2DE with LV thrombi, have not been well delineated. Therefore we looked at 2DE and clinical variables that included texture features in the 2DE of 38 patients whose 2DE had LV thrombi and questioned these patients to see if clinical embolization had occurred in the 8.9 +/- 6.1 month (+/- SD) average follow-up period. Eight patients, four with acute myocardial infarction (AMI) and four with dilated LV and decreased LV systolic wall motion, had clinically apparent leg or brain emboli, whereas the remaining patients did not. Emboli occurred within a week of obtaining the 2DE in question. The variables considered were the age of the patient, the type of heart disease present, warfarin administration, exercise tolerance, standard M-mode measurements, LV dyssynergy by 2DE, clot size and mobility, and gray scale statistics which include run length, Sobel edge points followed by 50% gradient thresholding, gray level second-order statistics, offset 1 and gray level difference statistics, offset 1. The values of the variables were then entered into an expert system (Expert Ease) in order to achieve classification of patients into emboli versus no emboli groups, while using a minimal number of variables. The only variables that were needed included run length, long runs emphasis, gray level difference statistics (entropy, contrast, mean, and angular second moment), gray level second-order statistics (contrast), and warfarin status. When probability statistics were applied to this schema, its accuracy was predicted to be at least 96%.(ABSTRACT TRUNCATED AT 250 WORDS)

Prediction of survival in progressive systemic sclerosis by multivariate analysis of clinical features.

The records of 64 patients with progressive systemic sclerosis (PSS) were reviewed. More than 100 items from the patient's history, physical examination, and laboratory tests were encoded. A two-tailed Gehan's test was used to evaluate the effect of each variable on patient survival. Variables significant at the 0.05 level were then analyzed simultaneously, using the Cox regression model, in order to determine which clinical features are most predictive of survival in PSS. By Cox regression, the presence of an S3 gallop and advanced age at onset of PSS related negatively to survival. The relative risk of death for a patient with an S3 gallop was 5.44 (ratio of risk) times that for a patient without an S3 gallop, and the risk of death for a 70-year-old patient at disease onset was 20 times that of a 20-year-old patient at disease onset. In addition, when patient selection was taken into account, corticosteroid administration had a significant effect, and seemed to actually shorten survival. Although one of the factors, age at onset, is not modifiable, the presence of either variable should alert the clinician to the patient being at high risk for short survival. The application of this technique should also prove helpful in analyzing the efficacy of various proposed therapies.

Widened E point septal separation in a normal pediatric population.

To determine the age and gender distribution of the E point septal separation (EPSS), M-mode echocardiograms were obtained from 121 normal subjects aged four months to 82 years. A small but consistent age factor was found. In subjects less than age 20, EPSS was 3.0 +/- 2.6 mm, whereas in those greater than 20 years, EPSS was 1.4 +/- 1.8 (p less than .001). In females EPSS did not vary appreciably at different ages. By contrast, in males EPSS increased with age, peaking between ages 15 and 19 and then decreasing. Between ages 10 and 19, EPSS was significantly wide in males than in females. Thus, EPSS is wide in male adolescents than in adults. The cause for this phenomenon is unclear, but judging from its age and gender distribution, it may be related to the effect of androgens on the myocardium.

Cryptorchidism in mental retardation.

We surveyed 148 institutionalized male subjects to study the prevalence of cryptorchidism among mentally retarded individuals. Of the patients 121 (81.7 per cent) were profoundly (intelligence quotient 19 or less), 21 severely (20 to 35), 5 moderately (36 to 51) and 1 mildly (65) retarded. Patient age ranged from 1 to 36 years (mean 13.6 means). According to the etiology of the mental retardation the cases were classified into 6 categories: chromosomal aberrations, single gene disorders, polygenic conditions, teratogen-induced anomalies, perinatal/postnatal injuries and idiopathic mental retardation. Cryptorchidism was found in 44 individuals (39.7 per cent), and was bilateral 3.4 times more often than unilateral. Cerebral palsy occurred in 88 patients. There were 36 patients with cryptorchidism and cerebral palsy, representing 41 per cent of the patients with cerebral palsy and 81.8 per cent of the cryptorchid group (p equals 0.0006). Among the noncryptorchid male subjects 52 (50 per cent) had cerebral palsy. Epilepsy also was more frequent in the cryptorchid group (p equals 0.0333). The cryptorchid and noncryptorchid groups did not show a significant difference in the etiology of mental retardation except in the perinatal/postnatal category in which cryptorchidism was more frequent (p equals 0.025), and in the polygenic category in which all 9 patients were noncryptorchid. This study shows a high prevalence of cryptorchidism in individuals with profound and severe mental retardation, and particularly in those having cerebral palsy.

Familial Williams syndrome.

Characteristic features of the Williams syndrome were observed in a mother and her presumably dizygotic twin daughters, suggesting either an X-linked dominant, autosomal dominant or multifactorial inheritance in this pedigree. The Williams syndrome generally has been thought to have a sporadic occurrence. The rare familial occurrence, however, suggests a possible heterogeneity in its etiology and also points out the importance of careful examination of the other family members for proper genetic counseling.