Analysis of TCOF1 mutation in a Chinese patient with Treacher-Collins syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation of TCOF1 gene in a Chinese family affected with Treacher-Collins syndrome.</p><p><b>METHODS</b>Clinical data of the patient was collected. The analysis included history taking, clinical examination and genetic testing. All coding regions of the TCOF1 gene were subjected to PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>A novel mutation c.2261ins G (p.E95X) of the TCOF1 gene was discovered in the patient. The same mutation was not found in his parents and 100 healthy controls.</p><p><b>CONCLUSION</b>The c.2261insG (p.E95X) mutation of the TCOF1 gene probably underlies the disease in the patient. Genetic testing can facilitate diagnosis and genetic counseling for families affected with TCS.</p>

Ikaros and childhood acute lymphoblastic leukemia / 国际肿瘤学杂志

Ikaros is a regulatory factor playing an important role in control of the development of hema-topoietic cells and immune system;and as a tumor suppressor,its aberration can cause both T and B lineage development arrest and neoplastic transformation,leading to insensitive to therapy and poor prognosis in actue lymphoblastic leukemia. Recently,researches on how Ikaros affects the leukemogenesis and prognosis become the focus of attention.

The clinical significance of nuclear factor-κB activation in peripheral blood mononuclear cells, serum level of interleukin-17 and serum levels of other correlated inflammatory cytokines in infant muggy syndrome / 中国小儿急救医学

Objective To investigate the clinical significance of nuclear factor ( NF)-κB activation in peripheral blood mononuclear cells (PBMCs) and the serum levels of correlated inflammatory cytokines in children with infant muggy syndrome(IMS).Methods Blood samples from 100 patients with IMS and those from 32 healthy infants( control group)were detected by ELISA for amount of NF-κB activation in PBMCs and for serum levels of interleukin ( IL ) -17,IL-6,tumor necrosis factor ( TNF ) -α and IL- 10 respectively from Jan 2008 to Jan 2011.At the same time,blood samples from 46 out of the above 100 patients with IMS and those from the 32 controls for positive rate of activation of NF-κB in PBMCs were detected by flow cytometry as well.The relationship between all the data and multiple organ dysfunction syndrome( MODS ) were analyzed respectively.Results As compared with that of control group,the percentage of activated NF-κB in PBMCs in 100 patients with IMS detected by ELISA [ ( 11.042 ± 6.792 ) ％ vs ( 4.528 ± 1.378 ) ％ ] and the positive rate of NF-κB activation in 46 patients with IMS detected by flow cytometry [ ( 28.780 ± 13.820 ) ％ vs (7.078 ±5.395)％ ] were both significantly higher ( P ＜0.01 ).The serum levels of IL-17,IL-6 and IL-10were also significantly higher in patients with IMS than those in control group( P ＜0.01 ).The serum level of TNF-α was higher in patients with IMS than that in control group but without significance( P ＞ 0.05 ).The percentage of activated NF-κB [ ( 14.591 ± 7.626) ％ vs ( 8.576 ± 4.851 ) ％ ],the positive rate of NF-κB activation [ ( 36.087 ± 12.056) ％ vs ( 23.590 ± 11.263 ) ％ ],and the serum levels of IL- 17,IL-6,TNF-α and IL-10 were all significantly higher in IMS patients with MODS than those in IMS patients without MODS ( P ＜ 0.01 ).Conclusion The inflammatory factors of NF-κB activation in PBMCs and the high serum levels of IL-17 and IL-6 are potent to cause inflammatory damage in IMS patients,and the serum level of IL-10 is not able to compensate the damage.The activation of NF-κB and high serum levels of IL-17,IL-6 and TNF-α are correlated with MODS.