Epstein-Barr virus-positive T-cell lymphoma cells having chromosome 22q11.2 deletion: an autopsy report of DiGeorge syndrome.

Reported herein was the first autopsy case of Epstein-Barr virus-associated T-cell lymphoma in a 25-year-old man with DiGeorge syndrome. Systemic lymph nodes demonstrated diffuse encasement by large lymphoma cells positive for CD45, CD2, CD3, CD5, CD7, CD8, TIA1, and granzyme B, accompanied with marked hemophagocytosis. Almost 100% of lymphoma cells were both EBER- and LMP-1-positive, and EBNA2-negative. The rearrangement of T-cell receptor ß gene was proved by polymerase chain reaction. Clinical and pathologic features coincided with Epstein-Barr virus-associated T/NK-cell lymphoproliferative disorder preceded by chronic active Epstein-Barr virus infection. A fluorescence in situ hybridization using paraffin-embedded tissues demonstrated a mosaic chromosome 22q11.2 deletion with both host cardiac myocytes and lymphoma cells, suggesting that Epstein-Barr virus-associated T-cell lymphoma was associated with and derived from the cells carrying the chromosomal abnormality. Furthermore, the lymphomagenesis of our case correlated with defect of cellular immunity in DiGeorge syndrome.

Radiation dose to the pediatric cardiac catheterization and intervention patient.

OBJECTIVE: The radiation dose from cardiac catheterization is particularly relevant when treating children because of their greater radiosensitivity compared with adults. Moreover, cardiac catheterization is being used increasingly for interventional radiology procedures, possibly resulting in higher patient radiation doses. This article reports the radiation doses and related factors, such as fluoroscopy time, for children who underwent cardiac catheterization and children who underwent other interventional radiology procedures. MATERIALS AND METHODS: We evaluated 239 consecutive patients who underwent cardiac catheterization (n = 205) or another interventional radiology procedure (n = 34) for which the dose-area product (DAP) was measured. The number of cine runs and fluoroscopic time for each procedure and the body mass index and body weight of each patient were recorded. We also used the double product combined with body weight, which is the weight- fluoroscopic time product. RESULTS: The average DAP ± SD of cardiac catheterization and of an interventional radiology procedure was 1,702.6 ± 2,110.1 cGy × cm² and 2,242.2 ± 2,509.4 cGy × cm², respectively. The average fluoroscopic time ± SD of cardiac catheterization and of an interventional radiology procedure was 24.1 ± 16.8 minutes and 37.2 ± 20.0 minutes. For children who underwent cardiac catheterization and those who underwent an interventional radiology procedure, a strong correlation was seen between the DAP and weight-fluoroscopic time product (cardiac catheterization, r = 0.906; interventional radiology procedure, r = 0.885) and a good correlation was detected between the DAP and weight (r = 0.819 and 0.895, respectively). CONCLUSION: There was a good correlation between the DAP and weight and between DAP and weight-fluoroscopic time product for children who underwent cardiac catheterization or an interventional radiology procedure. Therefore, body weight is important for determining radiation dose to children undergoing cardiac catheterization or an interventional radiology procedure. The normalized DAP (i.e., DAP divided by body weight), fluoroscopy time, and number of cine runs were greater in children who underwent an interventional radiology procedure than in those who underwent cardiac catheterization. Therefore, the radiation dose to children from interventional radiology procedures is a more critical issue.

Modifiers of the jumonji mutation downregulate cyclin D1 expression and cardiac cell proliferation.

Cell proliferation is an important factor in various developmental processes in tissue morphogenesis, and is strictly regulated spatiotemporally. jumonji (jmj) deficient mice with a C3H/He background show hyperproliferation of cardiac myocytes and die probably of the phenotype around embryonic day 11.5. Analyses of the abnormalities revealed that repression of cyclin D1 expression by jmj is necessary for downregulation of cardiac myocyte proliferation. On the other hand, jmj mutant mice with a BALB/c background die around E14.5, suggesting that genetic background modifies hyperproliferation in the heart and timing of lethality. Here, we demonstrated that the hyperproliferation was not observed, and that cell proliferation and expression of cyclin D1 were downregulated properly in the cardiac ventricles of jmj mutant mice with a BALB/c background. These results suggest the modifier(s) of the jmj mutation can downregulate cardiac cell proliferation by repressing cyclin D1 expression in the same way as jmj.