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We describe a patient with typical manifestations of 9p monosomy syndrome, including trigonocephaly and sex reversal. Array comparative genomic hybridization (CGH) revealed a 9p terminal deletion of approximately 9 Mb with the breakpoint at 9p23. We compared the deleted segments of 9p associated with reported cases of 9p monosomy syndrome with trigonocephaly. We did not identify a region that was shared by all patients; however, when only pure terminal or interstitial deletions that did not involve material from any other chromosome were compared, we identified a segment from D9S912 to RP11-439I6 of approximately 1 Mb that was deleted in every patient. We propose that this 1-Mb segment might be the critical region for 9p monosomy syndrome with trigonocephaly.

We report on a boy who had multiple synostosis syndrome 1, an autosomal dominant disorder characterized by progressive symphalangism, multiple joint fusions, conductive deafness, and mild facial dysmorphism. In addition the boy developed delay of puberty, bone age, and closure of the epiphyseal lines of long bones with tall stature. These findings and decreased plasma LH and FSH levels at age 19 years were compatible with hypogonadotropic hypogonadism. G-banded chromosomes showed a balanced translocation t(10;17)(p15.3;q22). Chromosomal FISH analysis, using a series of BAC clones surrounding the translocation breakpoints, detected a 2.2-3.9 Mb deletion at 17q22. The deletion encompassed NOG, a gene responsible for multiple synostosis syndrome 1. It was assumed that a gene for pituitary secretion of gonoadotropic hormones was deleted at the 17q22 segment.

Peters Plus syndrome is a very rare autosomal recessive condition characterized by ocular defects (typically Peters anomaly) and other systemic major/minor anomalies. Mutations in the B3GALTL gene encoding beta 1,3-glucosyltransferase have been found in virtually all patients with typical Peters Plus syndrome. We report on a female patient with unusually severe manifestations of Peters Plus syndrome, including anterior eye staphyloma, cleft lip and palate, and hypoplastic left heart syndrome (HLHS). Analysis of the B3GALTL gene revealed no mutation in the patient. To our knowledge, HLHS has not previously been reported in Peters Plus syndrome so far, and anterior staphyloma, a most severe defect of the anterior eye chamber, is also apparently rare in the syndrome. Our patient might represent a new syndrome of severe Peters Plus syndrome-like phenotype with anterior eye staphyloma and HLHS.

Between August 1992 and February 1998, 43 patients were treated with percutaneous cardiopulmonary support (PCPS) in our institution, and 8 of them subsequently required emergency cardiac surgery. There were 3 males and 5 females with a mean age of 63 years (range, 37 to 81 years). The etiology of shock in these 8 patients was acute myocardial infarction in 3, postinfarction left ventricular (LV) free wall rupture in 1, postinfarction ventricular septal perforation (VSP) in 1, LV free wall rupture and VSP in 1, and fatal arrhythmia due to severe aortic valvular disease in 2. The mean time interval from the onset of cardiogenic shock to the institution of PCPS was 77 min (range, 18 to 183 min). The mean time interval from the institution of PCPS until surgery was 145 min (range, 40 to 603 min). The surgical procedures were coronary artery bypass grafting (CABG) in 3 patients, closure of the LV rupture and/or closure of VSP in 3, and aortic valve replacement in 2. Six patients were weaned from PCPS, and 2 patients were discharged from the hospital (discharge rate, 25%). Although the results of emergency cardiac surgery following PCPS still are not satisfactory, we continue to apply PCPS and perform appropriate surgical procedures to improve the survival rate of the patients who would die without PCPS.

We report here a patient with features of Down syndrome and tetralogy of Fallot who had a 21q22 duplication. The extent of the duplication was defined using fluorescent hybridization probes that map to the critical region on chromosome 21. Included within the interval was the cell adhesion molecule DSCAM but not the collagen COL6A1. The present case provides further support to the concept that there exists Down syndrome-associated congenital heart disease gene(s) on chromosome 21q22 and that over-expression of DSCAM may contribute to the cardiac defects of Down syndrome.

A computer simulation was carried out to investigate the influence of nonpulsatile left ventricular assistance on hemodynamics. A simulation circuit was constructed to represent the circulatory system. A source of current was added to denote the nonpulsatile blood pump. The left and right ventricles were replaced by variable compliances. Left heart failure was simulated by decreasing the amount of compliance change of the left ventricle. We introduced a pulsatility indicator (PI) to clarify the pulsatility characteristics in the hemodynamics; this PI was defined as the ratio of the pulse pressure (PP) to the mean aortic pressure (AoP). When nonpulsatile bypass flow increased, the mean AoP, tension time index (TTI), and diastolic pressure time index (DPTI) increased, and cardiac output, PP, and PI decreased. When assisted flow increased with the constant total flow rate, the mean AoP and DPTI changed little; the PP, TTI, and PI decreased, and the endocardial viability rate increased. The PI would be helpful in evaluating the effect of pulsatility.

A pump circuit was assembled and examined for use as an implantable artificial heart. The circuit consisted of a gear pump and 4 artificial heart valves. Mitral and pulmonary arterial valves were placed at the inflow port of the pump, and aortic and tricuspid valves were placed at the outflow port. The mitral and the tricuspid valves were connected to each reservoir at 10 mm Hg, and the aortic and the pulmonary arterial valves were connected to the head tanks at 80 and 20 mm Hg, respectively. The pump discharged pulsatile flows into both systemic and pulmonary arteries alternately by switching the direction of rotation periodically. Because the rated discharge was 1.7 L/min for the gear pump used, the measured flow rate was 0.8-0.75 L/min at a heart rate of 60–110 bpm.