Clinical characteristics of hemolytic uremic syndrome secondary to cobalamin C disorder in Chinese children.

BACKGROUND: The present study was undertaken to investigate the clinical characteristics of hemolytic uremic syndrome (HUS) secondary to cobalamin C disorder (cbl-C disorder). METHODS: We reviewed retrospectively the medical records of 3 children with HUS secondary to cbl-C disorder who had been treated between April 1, 2009 and October 31, 2013. RESULTS: The 3 patients with HUS secondary to cbl-C disorder presented with progressive hemolytic anemia, acute renal failure, thrombocytopenia, poor feeding, and failure to thrive. Two of the 3 patients once had high blood pressure. The mutations of c.609G>A (p.W203X), c.217C>T (p.R73X) and c.365A>T (p.H122L) in the methylmalonic aciduria (cobalamin deficiency) cbl-C type, with homocystinuria gene were detected in the 3 patients. In these patients the levels of lactate dehydrogenase and homocysteine in serum were elevated and the level of methylmalonic acid (MMA) in urine was also elevated. After treatment with hydroxocobalamin, 2 patients were discharged with no obvious abnormal growth and neurological development and 1 patient died of multiple organ failure. CONCLUSIONS: The results of this study demonstrated that cbl-C disorder should be investigated in any child presenting with HUS. The high concentrations of homocysteine and MMA could be used for timely recognization of the disease. Once the high levels of plasma homocystein and/or plasma or urine MMA are detected, the treatment with parenteral hydroxocobalamin should be prescribed immediately. The early diagnosis and treatment would contribute to the good prognosis of the disease.

[Study on the distribution and correlation of trace elements in whole blood of children in Beijing].

OBJECTIVE: To study the distribution and correlation of trace elements in peripheral blood of children in Beijing so as to offer scientific evidence for the supplementation of trace elements and to prevent lead intoxication. METHODS: Contents of trace elements in whole blood of 13 929 children in Beijing region were detected by Atomic Absorption Spectrometer. According to developmental condition, children were divided into young infancy group, infancy group, toddler's age group, preschool age group, school age group and adolescence group. Every group was divided into males and females. Distribution and correlation of trace elements in different age groups and in different sex sets were then analyzed and compared. RESULTS: The level of copper, calcium and magnesium were stable in different age groups and in different sex sets. There were no obvious significant differences in age groups and sex sets and there were no deficiency of copper, calcium and magnesium discovered. The level of zinc increased gradually following the growth of age and the level of zinc was (81.71 +/- 15.91) micromol/L. There were significant differences in different age groups noticed as well in sex sets of infancy group, toddler's age group and preschool age group. The rate of deficiency of zinc decreased gradually following the growth of age. The rate of zinc deficiency was 13.7% and there were obvious differences noticed in sex sets of toddler, preschool and school age groups. The level of iron increased gradually following the growth of age with the level of iron as (8.28 +/- 0.78) mmol/L. There were significant differences noticed in different age groups, after infancy stage. There was significant difference noticed also in sex sets after school age group. The rate of iron deficiency decreased obviously following the growth of age. The iron deficiency rate was 12.9%, and significantly different in sex sets of young infancy, school age and adolescence groups. The level of lead increased gradually following the growth of age, with the overall level as (59.97 +/- 26.52) microg/L; There was an obvious significant differences noticed in different age groups with significant differences noticed in sex sets after toddler's age group. The rate of lead intoxication increased gradually following the growth of age. The rate of lead intoxication was 8.2%. There were significant differences noticed in sex sets after toddler's age group. However, there were negative correlations noticed among the levels of lead and copper, zinc, calcium, magnesium and iron. There were no correlations between the level of calcium and iron found but showed positive correlation among other trace elements. CONCLUSION: The deficiency of calcium was basically corrected but the deficiency of zinc and iron were still obvious. There was a high level of lead noticed in these children. It is important to advocate on healthy feeding program, on culture good hygienic habit and on away from the lead pollution sites.

[Study of cytokines secreted by tumor-draining lymph node cells from lung cancer patients induced with different stimulators].

AIM: To investigate the influence of different stimulators on cytokines secretion of tumor-draining lymph node (TDLN) cells and study antitumor effects and mechanism of TDLN cells. METHODS: IL-12 p70, IFN-gamma, TNF-alpha and NO which were secreted by TDLN cells induced by different stimulators (IL-2 group, IL-2+autologous tumor antigen group, IL-2+GM-CSF+IL-4+autologous tumor antigen group and IL-2+GM-CSF+IL-4+LPS group) were detected by ELISA and Griess after TDLN cells were stimulated for 7, 14 and 21 d. RESULTS: The rate of CD83(+) cells of TDLN cells induced by IL-2+GM-CSF+IL-4+autologous tumor antigen and IL-2+GM-CSF+IL-4+LPS was significantly increased. The TDLN cells in the two groups secreted much more IL-12 p70, IFN-gamma and TNF-alpha than IL-2 group and IL-2+autologous tumor antigen group. The TDLN cells stimulated by IL-2+GM-CSF+IL-4+LPS secreted significantly more NO than the other three groups. TDLN cells in each group secreted IL-12 p70, IFN-gamma and NO at the highest level after TDLN cells were stimulated for 14 d. CONCLUSION: Different stimulators can make TDLN cells produce different number of CD83(+) cells (DC), which gives TDLN cells different antitumor activity.

[The effect on the differentiation and maturation of dendritic cells by lupane acetate of cortex periplocae].

AIM: To investigate the effect of lupane acetate of cortex periplocae (CPLA) on the differentiation, maturation and immune activity of human peripheral blood mononuclear cell (PBMC)-derived dendritic cells (DCs) in vitro. METHODS: PBMC isolated from human peripheral blood was cultured with GM-CSF, IL-4 for 5 d and stimulated with TNF-alpha (as positive control) or CPLA to induce DCs. The morphological characteristics of DC were observed under inverted microscope and transmisson electron microscope. The expressions of CD1a, CD83, CD80 and CD86 were analyzed by flow cytometry. IL-12, IFN-gamma production in the culture supernatant of DCs was detected by ELISA. MTT method was used to determine the proliferation of T cells stimulated by DCs. RESULTS: After 10-days culture with cytokines and CPLA, PBMC developed into mature DCs with typical morphological characteristics and high expressions of CD1a, CD83, CD80 and CD86 on the cellular surface (P<0.05). CPLA enhanced IL-12 and IFN-gamma production by DCs (P<0.05). CPLA-treated DCs markedly stimulated proliferation of T cells (P<0.05). CONCLUSION: CPLA may induce the differentiation and maturation of DC, up-regulate cytokines production and increase the immune activity of DC.

[Expression of IL-23 gene in murine colon carcinoma cells transduced with recombinant retrovirus and its anti-tumor activity].

AIM: To obtain murine colon carcinoma cell lines stably transducted by recombinant retrovirus encoding mIL-23 gene. METHODS: The retrovirus vector was used to transduce the mIL-23 gene into murine colon carcinoma cells (Colon26) and stable clones expressing mIL-23 (Colon26/IL-23) were obtained by screening with G418. The expression of mIL-23 gene was detected by PCR and RT-PCR. The amount of mIL-23 secreted from Colon26/IL-23 cells and IFN-gamma production by murine splenocytes induced by mIL-23 were determined by ELISA. MTT colorimetry was used to assess the in vitro growth of Colon26/IL-23 cells. BALB/c mice were injected s.c. with Colon26/IL-23 cells to observe their tumorigenicity. RESULTS: Colon26/IL-23 cells were set up. Colon26/IL-23 could secrete mIL-23 which could induce the IFN-gamma production by murine splenocytes. The growth of Colon26/IL-23 cells was similar to that of Colon26 cells in vitro. But the tumorigenicity of Colon26/IL-23 cells was lower than that of Colon26 cells in vivo. CONCLUSION: Colon26/IL-23 cells secreting mIL-23 were obtained and IL-23 had anti-tumor activity.