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.

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.

Objective:This study aimed to explore the ″special″ review points and ethical strategies in the ethical review of medical research involving children, providing references for the medical research on this group.Methods:Combining the physical and mental characteristics of children, and comparing clinical research ethics review points, this study discussed the key aspects to be concerned about in the ethical review of medical research involving children, and proposed " special protection" strategies to be implemented.Results:Ethics committees should fully recognize the uniqueness of child development. The definition of minimal risk in the child population needs to be fully understood at the risk-benefit assessment stage, to develop ethical responses to the risk-benefit ratios in different situations, and to avoid special risks. Informed consent procedures should adhere to basic principles while respecting dissenting voices by designing multiple versions of informed consent for research, and developing informed consent countermeasures for vulnerable children groups.Conclusions:Medical research involving children should follow more rigorous and scientific procedures to protect rights, standardize clinical research in pediatric healthcare, and promote the healthy development of pediatric health endeavors.

OBJECTIVETo detect potential mutation of TCOF1 gene in a Chinese family affected with Treacher-Collins syndrome.

METHODSClinical 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.

RESULTSA 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.

CONCLUSIONThe 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.