Genetic changes at the beta-2-adrenergic receptor locus on chromosome 5 in human colorectal carcinomas.

Matched normal/tumor DNA pairs from 44 colorectal carcinoma patients were examined for tumor-specific genetic changes using a probe for the beta-2-adrenergic receptor (ADRB2R) gene on chromosome 5. This locus (5q31-q32) maps close to the site of chromosomal deletions recently reported to occur in colorectal carcinomas and distal to the chromosomal location of the familial adenomatous polyposis (FAP) gene (5q21-q22). Our investigation shows tumor-specific allele loss or allelic rearrangement of at least 29% at the AdRb2R locus on chromosome 5 in informative cases. These results suggest that the mechanism by which colorectal carcinomas lose genetic material on chromosome 5 can affect this functional gene located distally to the FAP gene. The possible functional significance that ADRB2R gene changes may have in neoplastic progression is discussed.     

Plasma lipid abnormalities in the miniature poodle with progressive rod-cone degeneration.

The miniature poodle with progressive rod-cone degeneration (prcd) is a model for human retinitis pigmentosa (RP). Since previous studies from several laboratories have shown abnormalities in plasma lipids in human RP, we examined the plasma lipids of prcd-affected animals. Fasting blood was drawn on three separate occasions from affected and control miniature poodles and on one occasion from normal Irish setters and those affected with a different inherited retinal degeneration (rod-cone dysplasia). Plasma phospholipids from prcd-affected animals had significantly lower levels of docosahexaenoic acid (22:6 omega 3) and cholesterol, compared to control miniature poodles. No differences were observed in plasma levels of phospholipids, vitamin E, or vitamin A, and no lipid differences were found between control and affected Irish setters. The ratios of 22:5 omega 3 to 22:6 omega 3 and of 22:4 omega 6 to 22:5 omega 6 were significantly elevated in prcd-affected poodles compared to controls. Since the conversion of 22:5 omega 3 to 22:6 omega 3 and of 22:4 omega 6 to 22:5 omega 6 is catalysed by a delta 4-desaturase, these results are consistent with a defect in desaturase activity in the prcd-affected poodle.     

Anomalous origin of left coronary artery in pulmonary artery]

We report 2 infants aged 6 months and one year with an anomalous left coronary artery origin treated surgically at our centre with direct aortic reimplantation of the anomalous coronary. Evolution has been satisfactory, with a great improvement of ventricular function. The mitral incompetence and congestive heart failure have disappeared and myocardic perfusion electrocardiographic patterns were corrected. Because of the unfavorable natural course of the disease and the improvement in techniques of coronary revascularization in infants we recommend an early surgical treatment as soon as it be diagnosed. We consider that the most adequate surgical treatment is the direct aortic reimplantation of the anomalous coronary artery.     

A diffuse pulmonary hemorrhage following thrombolytic therapy in an acute myocardial infarct]

A sixty-years-old man was admitted to the hospital because of acute myocardial infarction of anterior location. He had four episodes of ventricular fibrillation each requiring defibrillation and short-term cardiopulmonary resuscitation (less than 10 minutes). He was then managed with thrombolytic therapy, therapeutic doses of heparin and aspirin. He had persistent haemoptysis, chest X-ray revealing a diffuse bilateral alveolar infiltration. There was a continuous decrease in hemoglobin and hematocrit levels, with an evident clinical-radiographic dissociation. Right cardiac catheterisation showed a normal left ventricular function. The single breath carbon monoxide diffusing capacity (DLCOsb) was high, indicative of a diffuse intrapulmonary haemorrhage causing the alveolar infiltration.     

Previously unknown stricture due to radiation therapy diagnosed by capsule endoscopy.

Radiation enteritis is a complex clinical entity secondary to the affectation of intestinal epithelial cells as a result of radiation in the management of pelvic malignancies that may occasionally cause intestinal strictures. We present the case of a 60 year-old woman who had been diagnosed ten years before with endometrial adenocarcinoma, and who underwent hysterectomy with double adnexectomy and subsequent radiation therapy. The patient consulted for abdominal pain and ferropenic anemia of several years standing, and had negative results following radiographic and endoscopic conventional techniques, reason why she was subjected to a capsule endoscopy study that revealed the presence of an ulcerated ileal stricture, which caused the asymptomatic retention of the capsule within the ileum. A laparotomy was subsequently performed--the strictured segment was resected and the capsule retrieved. The histologic examination of the resected segment confirmed the capsule endoscopy-raised suspicion of radiation enteritis. This case shows the role capsule endoscopy may play in the diagnosis of this condition.     

The usefulness of the application of nonlinear dynamics in the analysis of electrocardiograms in Chagas' disease patients]

INTRODUCTION AND OBJECTIVES: The application of nonlinear techniques allows the definition of early risk markers in patients with Chagas infection and without any evidence of cardiac involvement evaluated by standard diagnostic test. Nonlinear modeling techniques have proved to be effective in cardiac rhythm analysis, thereby justifying its use in Chagas' disease. PATIENTS AND METHOD: The routine noninvasive test and heart rate variability analysis were performed in Chagas' disease patients and in a group of healthy subjects. In a second phase we used nonlinear analysis in the evaluation of patients with Chagas infection and no evidence of heart disease, Chagasic patients with minimal electrocardiographic abnormalities and healthy controls. RESULTS: Twenty-four-hour electrocardiographic ambulatory monitoring and heart rate variability allowed us to establish differences between the healthy subjects and patients with Chagas infection without evidence of cardiac disease (p c 0.05 and p <0.005). In sharp contrast nonlinear analysis characterized 4 subgroups in Chagasic patients without cardiac involvement (sensitivity and specificity of 1 00%). CONCLUSIONS: Our findings suggest that nonlinear modeling techniques have a high sensitivity and specificity in the early detection of cardiac involvement and very early autonomic disturbance. We recommend that these techniques be applied to patients with high risk of cardiac disease other than Chagasic myocarditis. Our findings should be corroborated with studies in larger populations. We are currently developing a prospective study to this end.