rome and Chromosome-Deletion

Identification of variables influencing surgical outcome in patients treated for pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries.. A total of 90 consecutive patients (median age, 12 months; range, 20 days to 35 years), who had primarily undergone either 1-stage unifocalization (n = 69) or palliation to promote native pulmonary arterial development (n = 21), were studied. Chromosome 22q11 deletion had occurred in 37% of the cases. Ventricular septal defect closure was accomplished in 70 patients (78%), with a mean postoperative right/left ventricular pressure ratio of 0.48 ± 0.14.. The rate of 14-year survival, freedom from conduit reintervention, and freedom from percutaneous intervention on the pulmonary arteries was 75%, 46%, and 52%, respectively. At a median interval of 95 months (range, 1.5-164 months), the right/left ventricular pressure ratio did not differ significantly from early postoperatively. Univariate analysis showed that an absence of confluent intrapericardial pulmonary arteries favorably affected the postoperative right/left ventricular pressure ratio after ventricular septal defect closure (P = .04). Kaplan-Meier estimates showed age of 30 days or younger (P = .0004) and weight of 3 kg or less (P = .0004) at unifocalization and chromosome 22q11 deletion (P = .001) significantly affected survival. Chromosome 22q11 deletion was significantly associated with mortality, even in the Cox regression model (hazard ratio, 8.26; P = .003). Finally, ventricular septal defect closure during single-stage and single/multiple-stage procedures significantly correlated with both early (P = .0013 and P < .00001, respectively) and overall (P = .013 and P = .0007, respectively) survival.. The results of surgery were satisfactory and durable, despite the need for repeated percutaneous or surgical reinterventions. The outcomes were negatively affected by neonatal age and low body weight and positively affected by simultaneous or staged ventricular septal defect closure. Finally, chromosome 22q11 deletion remained an independent variable affecting survival.

Topics: Adolescent; Adult; Age Factors; Aorta; Body Weight; Cardiac Surgical Procedures; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Collateral Circulation; Heart Septal Defects, Ventricular; Humans; Infant; Infant, Newborn; Kaplan-Meier Estimate; Palliative Care; Proportional Hazards Models; Pulmonary Atresia; Pulmonary Circulation; Regional Blood Flow; Reoperation; Retrospective Studies; Risk Assessment; Risk Factors; Rome; Tetralogy of Fallot; Time Factors; Treatment Outcome; Ventricular Function, Left; Ventricular Pressure; Young Adult

Molecular cytogenetic methods were applied to investigate the effect of the occupational exposure to low concentrations of benzene and petroleum fuels on genomic stability. Twelve male gasoline station attendants (average benzene exposure of 0.32 mg/m3 as 8h TWA) and 12 age- and smoking-matched unexposed controls were selected for the study. The incidence of hyperploidy and polyploidy in peripheral lymphocytes was evaluated through in situ hybridization of interphase cells, harvested 24 hr after stimulation, with centromeric probes of chromosomes 7, 11, 18, and X. For half of the subjects, metaphases harvested 24 hr later were analyzed. The incidence of chromosome loss in vitro was determined in cytokinesis-blocked cells, harvested at 66 hr, through the hybridization of micronuclei with a pancentromeric probe. Ten thousand chromosomes (more than 200 metaphases equivalent) and 2,000 binucleated cells/person were scored for hyperploidy and micronucleus analysis, respectively. The results obtained did not show any exposure-related excess of hyperploidy or micronucleus formation. Conversely, the age of the subjects was significantly correlated with several markers of genomic instability, such as the incidence of chromosome X and chromosome 18 hyperploidy, total hyperploidy and polyploidy, and close to statistical significance with chromosome loss. Smoking habits did not appear to contribute significantly to the effects measured. The parallel analysis of hyperploidy and polyploidy in interphase nuclei in 24-hr cultures and in metaphase cells harvested 24 hr later showed basically similar incidences of aneuploid cells, indicating that no significant selection against hyperploid and polyploid types occurred during the first cell cycle in vitro.

Topics: Air Pollutants, Occupational; Aneuploidy; Benzene; Cell Cycle; Cells, Cultured; Chromosome Deletion; Chromosomes, Human; Gasoline; Humans; In Situ Hybridization, Fluorescence; Interphase; Male; Metaphase; Micronucleus Tests; Occupational Exposure; Rome; Sampling Studies; Smoking