Pre and postnatal diagnosis of fetus‐in‐fetu

Differentiation of abdominal masses detected on prenatal ultrasound is difficult and requires careful characterization of the mass and precise localization. Differentiation is required in order to distinguish benign from potentially malignant conditions. We describe a case of fetus‐in‐fetu with pre and postnatal imaging.     

X-linked chronic granulomatous disease: correction of NADPH oxidase defect by retrovirus-mediated expression of gp91-phox

Chronic granulomatous disease (CGD) is an inherited immunodeficiency resulting from the inability of an individual's phagocytes to produce superoxide anions because of defective NADPH oxidase. The disease may be treated by bone marrow transplantation and as such is a candidate for somatic gene therapy. Two thirds of patients have defects in an X- linked gene (X-CGD) encoding gp91-phox, the large subunit of the membrane cytochrome b-245 component of NADPH oxidase. Epstein-Barr virus-transformed B-cell lines from patients with CGD provide a model system for the disease. We have used retrovirus-mediated expression of gp91-phox to reconstitute functionally NADPH oxidase activity in B-cell lines from three unrelated patients with X-CGD. The protein is glycosylated and membrane associated, and the reconstituted oxidase is appropriately activated via protein kinase C. The kinetics of superoxide production by such reconstituted cells is similar to that of normal B-cell lines. These data show the potential of gene therapy for this disease.     

Exercise test in pediatric renal transplant recipients and its relationship with their cardiac function

Pediatric kidney transplant recipients are at increased risk of CVD. Exercise test is a good method to evaluate exercise capacity, cardiorespiratory fitness, and risk of potential CVDs. The aim of this study was to assess the exercise capacity in this population and determine its relationship with their cardiac function using conventional and tissue Doppler echocardiography. Exercise test, conventional and tissue Doppler echocardiography were performed on 44 kidney transplant children (age ranging 11–20, 59% male) with acceptable renal function, and the results were compared with their normal healthy counterparts. Our transplant patients achieved significantly lower maximal heart rate, maximal heart rate ratio, total energy expenditure during the exercise, and maximal O₂ consumption (Max VO₂) than the normal group (p < 0.05). No correlation was found between hemoglobin (Hb) level, dialysis duration, kidney function, and the exercise test parameters. Kidney transplant patients had preserved systolic despite diminished diastolic cardiac function compared to the normal children. Our pediatric renal transplant recipients had severely impaired diastolic dysfunction and significantly reduced MaxVO₂ compared with their healthy counterparts. No correlation was found between MaxVO₂ and measured indices of systolic and diastolic cardiac function.