Stromal‐derived factor‐1 gene variations in pediatric patients with primary immune thrombocytopenia

Primary immune thrombocytopenia (ITP) of childhood is an autoimmune disease characterized by abnormally increased destruction of platelets and decreased megakaryopoiesis. Stromal‐derived factor‐1 (SDF‐1) plays a role in megakaryopoiesis and may be involved in the pathogenesis of ITP. Five single nucleotide polymorphisms (SNPs) of the SDF‐1 gene, including rs1801157, rs2839693, rs2297630, rs1065297, and rs266085, were assessed in 100 children with ITP and 126 healthy controls. The genotypes were analyzed by tetra ARMS polymerase chain reaction and confirmed by direct sequencing. Compared with controls, the rs2839693 A/A and rs266085 C/T genotypes were decreased in ITP patients (P = 0.004 and 0.007, respectively). The odds ratios of the latter genotypes were 0.48, 95% CI 0.28–0.82. Further analysis of the relationship between SDF‐1 polymorphisms and clinical features showed that rs2297630 A/G was associated with protection from chronicity (P = 0.002; OR, 0.07; 95% CI, 0.01–0.61) and steroid dependence (P = 0.007; OR, 0.10; 95% CI, 0.01–0.84) in ITP patients. However, rs266085 genotype C/C was associated with risk of steroid dependence (P = 0.012, OR 3.87, 95% CI 1.27–11.77). The findings of this study suggest that SDF‐1 gene variations may be associated with the occurrence and prognosis of childhood ITP.     

Clinico‐genetic aspects of a pediatric non‐neurofibromatosis type 1 malignant triton tumor with loss of chromosome X

Malignant triton tumor (MTT) is an aggressive peripheral nerve sheath tumor with rhabdomyoblastic differentiation. Less than 100 cases have been described, being mostly male children with type 1 neurofibromatosis. We report a 6‐year‐old female with MTT and no diagnostic criteria for neurofibromatosis type 1. Cytogenetic analysis showed a 46,X,‐X[4]/46,XX[16] karyotype. She underwent a transfemoral amputation and chemotherapy and is free of disease 15 months after diagnosis. The few cytogenetic studies of MTT described in the literature have been inconclusive. Further cytogenetic analyses are needed to understand the role of chromosome X monosomy in the pathogenesis of this rare tumor. Pediatr Blood Cancer 2012; 59: 1320–1323. © 2012 Wiley Periodicals, Inc.     

The Role of Community Health Centers in Providing Behavioral Health Care

The prevalence of behavioral health problems is higher for low-income individuals, yet this population is less likely to receive behavioral health treatment. Community health centers have their advantages as behavioral health-care providers because they serve a majority low-income population and are located in medically underserved areas. Their role in providing behavioral health care is expected to expand under health reform as they are expected to double their patient capacity, and due to increased insurance coverage for individuals with behavioral health problems. However, the ability of community health centers to provide behavioral health care is compromised by provider shortages and funding shortfalls.