Study of SH2D1A gene mutation in paediatric patients with B-cell lymphoma.

BACKGROUND: X-linked lymphoproliferative disease (XLP) is an often fatal inherited immunodeficiency disorder characterised by fulminant infectious mononucleosis, acquired haemophagocytic lymphohistiocytosis, dysgammaglobulinaemia and malignant lymphoma. Given the paucity of data on the genetic stratification of XLP gene mutations in paediatric patients diagnosed with B-cell lymphoma, we sought to determine the existence of such association in the present study. METHODS: We studied 20 male subjects diagnosed with non-Hodgkin B-cell lymphoma. RESULTS: Eleven patients had laboratory evidence of EBV infection by serology and quantitative PCR. The SH2D1A gene analysis was negative in all patients. CONCLUSIONS: This is the first study to analyse the SH2D1A gene mutations in Iranian paediatric patients diagnosed with lymphoma. Although we could not demonstrate such an association in our cohort of patients, larger, multi-centre studies are required to extend and confirm our early findings.

Study of SH2D1A gene mutation in paediatric patients with B-cell lymphoma

BACKGROUND: X-linked lymphoproliferative disease (XLP) is an often fatal inherited immunodeficiency disorder characterised by fulminant infectious mononucleosis, acquired haemophagocytic lymphohistiocytosis, dysgammaglobulinaemia and malignant lymphoma. Given the paucity of data on the genetic stratification of XLP gene mutations in paediatric patients diagnosed with B-cell lymphoma, we sought to determine the existence of such association in the present study. METHODS: We studied 20 male subjects diagnosed with non-Hodgkin B-cell lymphoma. RESULTS: Eleven patients had laboratory evidence of EBV infection by serology and quantitative PCR. The SH2D1A gene analysis was negative in all patients. CONCLUSIONS: This is the first study to analyse the SH2D1A gene mutations in Iranian paediatric patients diagnosed with lymphoma. Although we could not demonstrate such an association in our cohort of patients, larger, multi-centre studies are required to extend and confirm our early finding

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Resorbable calcium phosphate bone substitute.

The in vitro and in vivo properties of a novel, fully resorbable, apatitic calcium phosphate bone substitute (ABS) are described. The ABS was prepared from calcium phosphate precursors that were hydrated to form an injectable paste that hardens endothermically at 37 degrees C to form a poorly crystalline apatitic calcium phosphate (PCA). The PCA reaction product is stable in vivo as determined by FTIR and XRD analysis of rabbit intramuscular implants of ABS retrieved 4, 7, and 14 days postimplantation. Bone formation and resorption characteristics of the ABS material were characterized in a canine femoral slot defect model. Femoral slot defects in dogs were filled with either autologous bone implants or the ABS material. Sections of femoral bone defect site from animals sacrificed at 3, 4, 12, 26, and 52 weeks demonstrated that new bone formation proceeded similarly in both autograft and ABS filled slots. Defects receiving either material were filled with trabecular bone in the first 3 to 4 weeks after implantation; lamellar or cortical bone formation was well established by week 12. New bone formation in ABS filled defects followed a time course comparable to autologous bone graft filled defects. Histomorphometric evaluation of ABS resorption and new bone formation indicated that the ABS material was greater than 99% resorbed within 26 weeks; residual ABS occupied 0.36+/-0.36% (SEM, n = 4) of the original defect area at 26 weeks. Quantitatively and qualitatively, the autograft and ABS were associated with similar new bone growth and defect filling characteristics.

alpha-BSM: a biomimetic bone substitute and drug delivery vehicle.

alpha-BSM is a biomimetic endothermically setting apatitic calcium phosphate bone substitute material. Its injectability and ability to harden at body temperature in the presence of physiologic saline, and other buffering agents, makes it an attractive clinical bone substitute and delivery vehicle for therapeutic agents in orthopaedic and dental applications. In osseous tissue, alpha-BSM alone remodels into bone and promotes bone healing. alpha-BSM treatment has been shown in several animal models to be effective in promoting healing of surgically created critical size defects and restoring bone biomechanical strength to values equal to or greater than values achieved with autograft controls. In vitro studies with alpha-BSM containing gentamicin show that antibiotics can be incorporated stably into alpha-BSM and that the release kinetics can be controlled with the appropriate formulation and preparative procedures. Growth factors and enzymes also are compatible with the alpha-BSM setting reaction. The incorporation of recombinant human bone morphogenetic protein-2 with alpha-BSM was shown to be effective in stimulating bone formation and accelerating restoration of the differentiated phenotype in an osteotomy model. Clinical trial investigators in Europe currently are using alpha-BSM implantations for treatment of fractures and other indications.