Chromosome 22q11.2 deletion causes DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome with tetralogy of Fallot (TOF), and sporadic or familial TOF. To determine the prevalence and clinical importance of the 22q11.2 deletion in TOF, a series of 212 Japanese TOF patients was studied. The type of pulmonary blood supply, which may lead to various clinical outcomes, and other additional anomalies were evaluated clinically. The 22q11.2 deletion was diagnosed by fluorescence in situ hybridization with N25 and TUPLE1 probes. Of the 212 patients examined, 28 (13%) had a 22q11.2 deletion, the frequency being higher than that in TOF patients with trisomy 21. The prevalence of the deletion in TOF patients with pulmonary atresia (PA) plus major aortico-pulmonary collateral arteries (MAPCA) was significantly higher than the value in patients with PA plus patent ductus arteriosus (PDA) (P = 0.04) or with pulmonary stenosis (PS) (P < 0.0001). All 28 patients with 22q11.2 deletion had one or more extracardiac abnormalities. Four of 9 patients with the 22q11.2 deletion and TOF-PA-MAPCA suffered from bronchomalacia, while none of 19 patients with TOF-PA-PDA or TOF-PS manifested bronchomalacia (P = 0.006). These results indicate that 22q11.2 deletion is the most frequent cause of syndromic TOF, especially for TOF-PA-MAPCA, and bronchomalacia is the clinically most important associated anomaly in TOF-PA-MAPCA patients.

Background. Staphylococcus epidermidis is the principal pathogen in prosthetic valve endocarditis. The

We report on male monozygotic twins with 22q11.2 deletion and discordant phenotypes. The twins had twin-to-twin transfusion syndrome. Twin 1, the smaller of the pair, had Tetralogy of Fallot, a characteristic facial appearance, swallowing dysfunction, anal atresia, short stature, and mental retardation, whereas twin 2 had a characteristic facial appearance but no other signs of the 22q11 deletion syndrome. Fluorescence in situ hybridization analysis showed a microdeletion on chromosome 22q11.2 in both twins. Zygosity analysis gave a probability of monozygosity greater than 99.999%. These observations indicate that environmental factors or postzygotic events play a role in the phenotypic variability in the twins.

A rabbit model of catheter-related bacteremia was developed to study immunity to the capsular polysaccharide/adhesin (PS/A) of coagulase-negative staphylococci. Catheters colonized by coagulase-negative staphylococci were inserted into the right jugular vein and attached to a subcutaneous osmotic pump, and blood cultures were obtained over 14 days. Nonimmune rabbits were bacteremic for 6-8 days after infection, hypoglycemic, and hyperlipidemic and had strong immune responses to teichoic acid but not to PS/A. PS/A immunization, but not teichoic acid immunization, reduced the number of bacteremic days by approximately 60%, diminished the hypoglycemia and hyperlipidemia, and ablated the immune responses to teichoic acid. Passive infusion of PS/A-specific polyclonal and monoclonal antibodies using a separate, noninfected catheter-pump combination implanted in the left jugular protected against both bacteremia and hematogenous colonization of this contralateral catheter.

To clarify the risk factors contributing to postoperative complications in the elderly patients (over 70 years) undergoing esophagectomy and/or gastrectomy, 364 patients with primary cancer seen were evaluated. As a result, some characteristic patterns of stress response in the elderly could be detected as follows: the disorders of the vital organs were more important indices for the development of postoperative complications rather than age, and a reduction in the maximum response of the stress hormones to surgical procedures in aged patients was noted; moreover, the functional variability of target organ in the aged group was confirmed. Studies on the hormonal response to surgery suggest that the restriction of fluid replacement is advisable until the third postoperative day, maintaining the host on the dry side, to prevent cardiopulmonary complications. As the nutritional status in the patients with esophageal and gastric cancer goes from bad to worse with the advancing clinical stages, adequate perioperative nutrition is imperative to prevent complications such as anastomotic leakage, wound dehiscence, and/or infections. For the treatment of anastomotic leaks after esophagectomy and esophagogastrectomy, more than 45 kcal/kg/d must be provided, and the serum albumin level must be restored to 3.5 g/dL in order to achieve spontaneous healing of small anastomotic leakages.