CJCP
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2015 Vol.  17 No.  1
Published: 2015-01-15

CLINICAL RESEARCH
COMPLICATED CASE STUDY
EXPERIMENTAL RESEARCH
CLINICAL EXPERIENCE
CASE REPORT
REVIEW
CLINICAL RESEARCH
1 YANG Wen-Yu, CHEN Xiao-Juan, WANG Shu-Chun, GUO Ye, LIU Tian-Feng, CHANG Li-Xian, LIU Fang, ZHU Xiao-Fan
Gene mutations and clinical characteristics in children with juvenile myelomonocytic leukemia Hot!

Objective To study gene mutations and clinical features in children with juvenile myelomonocytic leukemia (JMML). Methods The clinical data of 14 children who were diagnosed with JMML and were examined for the detection of common gene mutations were retrospectively analyzed. Results Eleven (79%) out of 14 cases were male, and 3 (21%) were female. The median age at diagnosis was 2.0 years (age range: 0.6-6.0 years). Among 14 cases, there were 4 cases (29%) with PTPN11 mutation, 3 cases (21%) with N-RAS mutation, 1 case (7%) with PTPN11 mutation and K-RAS mutation, and 6 cases (43%) without any mutation. All four cases in the PTPN11 mutation group were male, and their median age was 2.5 years; interval from onset to diagnosis was 1.0 month; the white blood cell (WBC) count and absolute monocytes in peripheral blood were significantly higher, while the platelet (PLT) count was lower, as compared with the other three groups; they were followed up, and 3 cases died and 1 case had a progressive disease. In the N-RAS mutation group, there were two male cases and one female case, and their median age was 2.0 years; interval from onset to diagnosis was 13.7 months; after follow-up, 2 cases died and 1 case did not have an obviously progressive disease. Conclusions PTPN11 mutation is the most common mutation in JMML. The cases with PTPN11 mutation often have higher WBC count and absolute monocytes in peripheral blood, a lower PLT count, and a rapid disease progression, and their clinical outcomes are poor. The cases with N-RAS mutation have a slow disease progression. The clinical characteristics of the patients with compound mutations are not sure because of the small number of cases, and further clinical observation is indispensable.

2015 Vol. 17 (1): 1-5 [Abstract] ( 6050 ) [HTML 1KB] [PDF 1280KB] ( 1243 )
6 ZHANG Li, RUAN Min, LIU Xiao-Ming, ZHANG Jia-Yuan, GUO Ye, YANG Wen-Yu, LIU Fang, LIU Tian-Feng, WANG Shu-Chun, CHEN Xiao-Juan, ZOU Yao, CHEN Yu-Mei, ZHU Xiao-Fan
Methylation of the genes in the 9P21 region in children with acute myeloid leukemia

Objective To investigate the methylation rate of cyclin-dependent kinase inhibitor 2A (CDKN2A) and cyclin-dependent kinase inhibitor 2B (CDKN2B) in the 9P21 region in children with acute myeloid leukemia (AML) and the association of gene methylation with clinical features and outcomes. Methods The clinical data of 58 children who were newly diagnosed with AML between January 2010 and December 2012 were retrospectively analyzed. Thirtyeight healthy children were recruited as the control group. Genomic DNA was extracted from bone marrow or peripheral blood of the 58 patients and 38 healthy children. The methylation status of CDKN2A and CDKN2B was analyzed by methylation-specific multiplex ligation-dependent probe amplification. Results Gene methylation was not found in healthy children. Methylation probes of 44 patients were detected in 58 patients. The methylation of CDKN2A was detected with 136 bp and 237 bp methylation probes. The methylation of CDKN2B was detected with 130 bp, 210 bp, 220 bp, and 417 bp methylation probes. The methylation rate of CDKN2A was 5%, while the methylation rate of CDKN2B was 76%. The methylation detected by some probes was associated with sex, hemoglobin, and platelet count at the first visit. Conclusions The methylation of CDKN2B is a common event in children with AML, while the methylation of CDKN2A is relatively rare.

2015 Vol. 17 (1): 6-10 [Abstract] ( 5382 ) [HTML 1KB] [PDF 1165KB] ( 1013 )
11 ZHU Xiu-Juan, HE Xiang-Ling, WU Yan-Peng, ZOU Run-Ying, LI Wan-Li, ZOU Hui, YOU Ya-Lan, LIU Hua, TIAN Xin
Influence of thymidylate synthase gene polymorphisms on high-dose methotrexaterelated toxicities in childhood acute lymphoblastic leukemia

Objective To investigate the influence of thymidylate synthase (TS) gene polymorphisms on highdose methotrexate (HD-MTX)-related toxicities in childhood acute lymphoblastic leukemia (ALL). Methods A total of 73 children who were diagnosed with ALL between March 2011 and March 2013 were included into this study. Genomic DNAs were extracted from their peripheral blood. And then the genotypes of TS 5'-UTR were determined by direct DNA sequencing after PCR. The toxicity response of 73 patients receiving HD-MTX chemotherapy were observed and recorded, and plasma MTX concentrations at 42-48 hours after chemotherapy were measured. Results The main HDMTX- related toxicities of 73 patients receiving HD-MTX chemotherapy were neutropenia, decreased hemoglobin level, thrombocytopenia, liver toxicity, mucosal damage, and gastrointestinal reactions. There were no significant differences in the incidence rate of HD-MTX-related toxicities between children with different TS 5'-UTR genotypes after chemotherapy (P>0.05). TS 5'-UTR genotype was not significantly correlated with plasma MTX concentrations at 42-48 hours after chemotherapy (P>0.05). Conclusions TS gene polymorphisms have no influence on the incidence of HDMTX- related toxicities in childhood ALL.

2015 Vol. 17 (1): 11-14 [Abstract] ( 5629 ) [HTML 1KB] [PDF 1222KB] ( 1393 )
15 AN Wen-Bin, ZHANG Pei-Hong, REN Yuan-Yuan, GUO Ye, WANG Shu-Chun, CHEN Xiao-Juan, YANG Wen-Yu, CHANG Li-Xian, ZHU Xiao-Fan
Clinical features of childhood refractory cytopenia

Objective To study the clinical features of patients with refractory cytopenia of childhood (RCC). Methods The clinical data of 1 420 children (0-14 years old) with an initial diagnosis of non-severe aplastic anemia between January 1990 and June 2013 were retrospectively analyzed. Bone marrow cell morphology and histopathology were re-evaluated, and the patients were re-classified using the criteria proposed in the 2008 edition of the World Health Organization classification of RCC in hematopoietic and lymphoid tumor tissues. The clinical outcomes were followed up every 3-6 months. Results Among all the 1 420 cases, 152 (10.7%) were reassessed as RCC. Patients with RCC had a lower level of hemoglobin and a higher percentage of fetal hemoglobin than those with non-severe aplastic anemia. Of the patients with RCC, 21.5% showed abnormal karyotypes at diagnosis. The median follow-up period for all patients was 36 months (ranging from 1 to 283 months). The rates of complete response, partial response, and no response to cyclosporine and androgen treatment in RCC patients were 19.0%, 26.7%, and 54.3%, respectively. The 5- and 10-year prospective overall survival rates of RCC patients were 87.9% and 72.4%, respectively. The 5- and 10-year prospective clonal evolution rates were 15.3% and 20.0%, respectively. The 2-year prospective incidence of newly diagnosed karyotype abnormality after the initial diagnosis was 3.6%. The 5- and 10-year prospective leukemia transformation rates were 10.0% and 20.0%, respectively. Conclusions RCC shows clinical features similar to adult myelodysplastic syndrome. Children with RCC have a poor prognosis, an increased risk of transformation to leukemia, and a low response rate to cyclosporine treatment.

2015 Vol. 17 (1): 15-21 [Abstract] ( 6281 ) [HTML 1KB] [PDF 1550KB] ( 1575 )
22 CHENG Yan-Yang, XIONG Hao, XU Zhi-Liang, LI Jian-Xin, LI Hui, CAI Wei, HAN Jie, LI Jiao-Jiao, GUO Lin
Association between Helicobacter pylori infection and newly diagnosed childhood immune thrombocytopenia

Objective To study the role of Helicobacter pylori (H. pylori) infection in newly diagnosed childhood immune thrombocytopenia (ITP). Methods A total of 495 children with newly diagnosed ITP who were hospitalized for the first time between January 2011 and December 2013 were included as the case group. A total of 123 children with common respiratory tract infection (not ITP or other diseases of blood system) were randomly selected as the control group. All patients were divided into four groups by age: <1 year group, 1-3 years group, 3-7 years group, and 7-14 years group. The incidence of H. pylori infection in all age groups and the clinical outcomes of ITP children with or without H. pylori infection were retrospectively analyzed. Results The incidence rate of H. pylori infection in the case group increased with increasing age. There was no significant difference in the incidence rate of H. pylori infection between the case and the control groups among subjects of the same age (P>0.05). All the ITP patients were not given anti-H. pylori treatment and only received the treatment (glucocorticoid and/or immunoglobulin) for ITP, and their remission rate declined with increasing age. There was no significant difference in the remission rate between the ITP children with H. pylori infection and those without H. pylori infection in the same age group (P>0.05). Conclusions H. pylori infection may not be a major cause of ITP in children, and the clinical outcomes of children with acute ITP are not affected by receiving anti-H. pylori treatment or not.

2015 Vol. 17 (1): 22-25 [Abstract] ( 6792 ) [HTML 1KB] [PDF 1223KB] ( 1436 )
26 WANG Ying-Chao, LIU Dong-Jie, MA Li-Na, LIU Man-Ju, SHENG Guang-Yao, ZHAO Xiao-Ming
Clinical features of childhood hemophagocytic syndrome and its association with human parvovirus B19 infection

Objective To investigate the association of childhood hemophagocytic syndrome (HPS) with human parvovirus B19 (HPVB19) infection, and to analyze the clinical features of this disease. Methods ELISA and quantitative real-time PCR were used to detect HPVB19-IgM, HPVB19-IgG and HPVB19-DNA in 65 children with HPS (HPS group) and 65 healthy children (control group). The HPS group was divided into HPVB19-infected (n=14) and non-infected (n=51) groups according to the detection results of HPVB19-DNA. The clinical data of two groups were compared. Results The positive rate of HPVB19-IgM in the HPS group (26%, 17/65) was significantly higher than that in the control group (9%, 6/65) (P=0.011), and there was no significant difference in the positive rate of HPVB19-IgG between the HPS (38%, 25/65) and control groups (29%, 19/65) (P=0.266). The infection rate of HPVB19 in the HPS group (22%, 14/65) was significantly higher than that in the control group (3%, 2/65) (P=0.001). Compared with the noninfected group, the HPVB19-infected group had significantly lower platelet count and hemoglobin level on admission, significantly more severe liver function damage, a significantly earlier onset time, and a significantly longer course of disease (P<0.05). Conclusions The pathogenesis of HPS may be associated with HPVBl9 infection. HPVBl9-infected children with HPS have more acute onset, more severe clinical manifestations, and a longer disease duration.

2015 Vol. 17 (1): 26-30 [Abstract] ( 5893 ) [HTML 1KB] [PDF 1227KB] ( 1325 )
31 GENG Hai-Yun, CAO Li, WANG Wei, CHEN Da-Kun, CHEN Chao-Ying, CHU Mei, JI Li-Na, WANG Jing-Jing, TU Juan, LI Jian-Guo, LI Hua-Rong, DU Pei-Wei
A prospective, randomized, controlled clinical study of Huai Qi Huang granules in treatment of childhood primary nephrotic syndrome

Objective To study the efficacy of Huai Qi Huang granules in the treatment of childhood primary nephrotic syndrome. Methods Between July 2009 and December 2011, patients who were admitted and diagnosed for the first time as childhood primary nephrotic syndrome were randomized into a treatment group (Huai Qi Huang granules plus glucocorticoid; n=23) and a control group (glucocorticoid alone; n=19) for a prospective study. The two groups were compared for regression time of edema, time to urinary protein clearance, relapse rate, incidence of infection, dosage of glucocorticoid, and humoral and cellular immunological indicators. Results There were no significant differences in regression time of edema, time to urinary protein clearance, and relapse rate between the treatment and control groups (P>0.05). The treatment group had significantly lower incidence of infection and daily dose of glucocorticoid (at month 6) than the control group (P<0.05). Humoral and cellular immunological indicators showed no significant differences between the two groups (P>0.05). No Huai Qi Huang-related adverse events were observed in this study. Conclusions Huai Qi Huang granules treatment can reduce the dose of glucocorticoid and the incidence of infection in children with primary nephrotic syndrome and has a favourable safety.

2015 Vol. 17 (1): 31-34 [Abstract] ( 8066 ) [HTML 1KB] [PDF 1258KB] ( 1616 )
35 HUANG Miao, DONG Guo-Qing, JIANG Hong-Ying, ZHANG Ji-Yong, SHI Xiao-Juan
Serum adiponectin levels in children with Kawasaki disease

Objective To explore the change in serum adiponectin levels and its significance in children with Kawasaki disease (KD). Methods Forty-five KD patients were enrolled in this study, including 18 with coronary artery lesions (CAL group) and 27 without coronary artery lesions (NCAL group). Twenty healthy children were recruited to the control group. Enzyme-linked immunosorbent assay was used to measure serum adiponectin levels, and an automatic biochemical analyzer was used to measure the levels of triglyceride (TG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C). Results The serum adiponectin levels in the CAL and NCAL groups were significantly lower than in the control group during the acute phase, subacute phase, and recovery phase (P<0.01), with lower levels observed during the acute phase and subacute phase (P<0.01). Compared with the NCAL group, the CAL group had significantly higher serum levels of adiponectin during the acute phase and recovery phase (P<0.05). The levels of TC, HDL, and LDL in the NCAL and CAL groups were significantly lower than in the control group (P<0.05). The levels of serum adiponectin in KD patients were positively correlated with the levels of TC, TG, and C-reactive protein and the occurrence of CAL (r=0.31, 0.30, 0.34, and 0.35, respectively; P<0.05). Conclusions Children with KD have metabolic disorders of blood lipids and reduced serum adiponectin levels. Reduced serum adiponectin levels may be the result of systemic inflammation, while increased adiponectin levels may be closely associated with the occurrence of CAL.

2015 Vol. 17 (1): 35-39 [Abstract] ( 5277 ) [HTML 1KB] [PDF 1256KB] ( 1168 )
40 CHAI Jian, YANG Xiao-Long, GUO Ming-Zhen, LIU Lu, LIU Shi-Guo, YAN Sheng-Li, GE Yin-Lin
DUOX2 mutations in children with congenital hypothyroidism

Objective To study the features of DUOX2 mutations and genotype-phenotype relationship in children with congenital hypothyroidism (CH), in order to provide evidence for gene diagnosis and gene treatment of CH. Methods Blood samples were collected from 10 CH children with thyromegaly. Genomic DNA was extracted from peripheral blood leukocytes. All exons of DUOX2 gene were analyzed using PCR and direct sequencing. Results G3632A mutation in the exon 28 of DUOX2 that may result in arginine to histidine substitution at codon 1211 was found in one patient. T2033C mutation in the exon 17 of DUOX2 that may result in histidine to arginine substitution at codon 678 was found in three patients. They were all heterozygous mutations. Conclusions Heterozygous mutations in DUOX2 may affect protein function and cause CH. The relationship between DUOX2 genotypes and clinical phenotypes is unclear and needs further studies.

2015 Vol. 17 (1): 40-44 [Abstract] ( 6574 ) [HTML 1KB] [PDF 1393KB] ( 1701 )
45 ZHANG Yin-Hong, LI Li, CHEN Hong, ZHU Shu, ZHANG Jie, LI Su-Yun, WANG Rui-Hong, ZHU Bao-Sheng
Analysis of neonatal screening results for congenital hypothyroidism in parts of Yunnan Province, China

Objective To summarize and analyze neonatal screening results for congenital hypothyroidism (CH) in parts of Yunnan Province, China. Methods A total of 236 218 newborns (121 463 males and 114 755 females) who were born in Zhaotong City, Qujing City, Lijiang City, and Diqing Tibetan Autonomous Prefecture of Yunnan Province, China, between July 2012 and April 2014 were screened for CH. The original blood smear was re-tested if the thyroid stimulating hormone (TSH) level in heel blood was ≥8 μIU/L in the initial screening. The newborns with positive TSH results were called back for further diagnosis by measuring blood TSH and free thyroxine (FT4) levels. Results Among 236 218 newborns, the pass rate of blood smears, re-acquisition rate of unqualified blood smears, and recall rate of suspected cases were 96.67% , 81.75% , and 73.02%, respectively. Sixty-six cases of CH were confirmed, among which 36 were male infants and 30 were female infants (P>0.05). The incidence rate of CH was 1/3 579, which was significantly lower than the national average rate (1/2 034; P<0.01). The gestational age of CH newborns was mostly between 37 to 42 weeks, and only 3% were born at a gestational age of >42 weeks. Most of the CH newborns had normal birth weight. The CH newborns with a body length of <50 cm accounted for 32%. Conclusions The incidence of CH in Yunnan Province is lower than the national average. There are no specific clinical features in CH newborns. The neonatal screening in Yunnan Province needs further improvement.

2015 Vol. 17 (1): 45-48 [Abstract] ( 5056 ) [HTML 1KB] [PDF 1246KB] ( 1296 )
49 LIU Zao-Ling, LI Qiu-Cen, ZHOU Tian-Hong, ZHANG Le
Comparisons of risk factors for low birth weight between Han and Uygur full-term infants

Objective To compare the differences in risk factors for low birth weight (LBW) between Han and Uygur full-term infants and to provide a basis for the prevention of LBW in newborn infants. Methods Eightyseven full-term LBW infants (38 Hans and 49 Uygurs) between March 2013 and June 2014 were selected as the case group, and 186 full-term normal birth weight infants (92 Hans and 94 Uygurs) were selected as the control group. A questionnaire survey was performed to investigate the related factors for LBW. Multivariate logistic regression analysis was carried out to determine the risk factors for LBW. Results The birth weights in Uyghur LBW infants were lower than in Han ones (P<0.05). Multivariate logistic regression analysis showed that drinking (OR=2.472, P=0.015) and smoking (OR=2.323, P=0.007) by the father, pregnancy complications (OR=14.377, P<0.001), and times of pregnancy (OR=2.995, P=0.001) were the risk factors for LBW in Han infants, while drinking by the father (OR=1.968, P=0.007), times of pregnancy (OR=1.953, P=0.005), pregnancy complications (OR=10.283, P=0.002), and poor indoor environment (OR=1.367, P=0.027) were the risk factors for LBW in Uyghur infants. Conclusions There are differences in physical growth between Han and Uygur LBW infants. Han and Uygur infants share the same traditional risk factors for LBW, such as father's harmful behaviors like drinking, times of pregnancy, and pregnancy complications, however, the indoor environment also plays a role in the occurrence of LBW in Uygur infants.

2015 Vol. 17 (1): 49-52 [Abstract] ( 4761 ) [HTML 1KB] [PDF 1267KB] ( 1114 )
53 LIU Zhi-Juan, LIU Guo-Sheng, CHEN Yong-Ge, ZHANG Hui-Li, WU Xue-Fen
Value of early application of different doses of amino acids in parenteral nutrition among preterm infants

Objective To study the short-term response and tolerance of different doses of amino acids in parenteral nutrition among preterm infants. Methods This study included 86 preterm infants who had a birth weight between 1 000 to 2 000 g and were admitted to the hospital within 24 hours of birth between March 2013 and June 2014. According to the early application of different doses of amino acids, they were randomized into low-dose group (n=29, 1.0 g/kg per day with an increase of 1.0 g/kg daily and a maximum of 3.5 g/kg per day), medium-dose group (n=28, 2.0 g/kg per day with an increase of 1.0 g/kg daily and a maximum of 3.7 g/kg per day), and high-dose group (n=29, 3.0 g/kg per day with an increase of 0.5-1.0 g/kg daily and a maximum of 4.0 g/kg per day). Other routine parenteral nutrition and enteral nutrition support were also applied. Results The maximum weight loss was lower and the growth rate of head circumference was greater in the high-dose group than in the low-dose group (P<0.05). The infants in the medium- and high-dose groups had faster recovery of birth weight, earlier attainment of 100 kcal/(kg.d) of enteral nutrition, shorter duration of hospital stay, and less hospital cost than those in the low-dose group (P<0.05). Blood urea nitrogen (BUN) levels in the high-dose group increased compared with the other two groups 7 days after birth (P<0.05). The levels of creatinine, pH, bicarbonate, bilirubin, and transaminase and the incidence of complications showed no significant differences between groups (P>0.05). Conclusions Parenteral administration of high-dose amino acids in preterm infants within 24 hours after birth can improve the short-term nutritional status of preterm infants, but there is a transient increase in BUN level.

2015 Vol. 17 (1): 53-57 [Abstract] ( 5475 ) [HTML 1KB] [PDF 1352KB] ( 1634 )
58 WANG Tao, CHEN Ping-Yang, ZHAO Zi-Yan, ZHAO Ya-Fan, LUO Kai-Ju, HE Ming-Feng, YANG Yong-Hui
Relationship between serum adiponectin and bone mineral density in preterm infants

Objective To examine serum adiponectin level in preterm infants and to evaluate the relationship between serum adiponectin and bone mineral density in preterm infants. Methods Seventy-two appropriate-for -gestational-age neonates were classified into three groups according to their gestational ages: early preterm (31-33+6 weeks, 13 cases), late preterm (34-36+6 weeks, 16 cases), and full-term (37-42 weeks, 43 cases). Venous blood was collected at one week of their life to measure serum adiponectin concentration. During the period, omnisense ultrasound bone sonometer was applied to measure speed of sound (SOS) of the left tibia. Results The median of tibia SOS in the early preterm group was significantly lower than in the late preterm and full term groups (P<0.05), and the median of tibia SOS in the late preterm group was lower than in the full-term group (P<0.05). Serum adiponectin level was lowest in the early preterm group, and the full-term group had the highest serum adiponectin level. Serum adiponectin level was positively correlated with tibia SOS in preterm infants (r=0.664, P<0.05). According to the result of multivariate linear stepwise regression analysis, serum adiponectin and birth weight were independent predictor of tibia SOS in preterm infants. Conclusions Serum adiponectin level is lower in preterm infants than that in full-term infants. There is a positive correlation between serum adiponectin and bone mineral density in preterm infants.

2015 Vol. 17 (1): 58-62 [Abstract] ( 5099 ) [HTML 1KB] [PDF 1332KB] ( 960 )
63 ZHANG Hui-Qin, FAN Rui, TIAN Guo-Hua, LI Ling, ZHANG Zhi-Hong, ZHANG Yue-Ping
Clinical outcomes of twin pregnancies conceived by in vitro fertilization compared with spontaneous twin pregnancies

Objective To compare the maternal and perinatal outcomes of twin pregnancies conceived by in vitro fertilization (IVF) with outcomes of spontaneous twin pregnancies. Methods A retrospective analysis was conducted between January 2010 and April 2014 to investigate the maternal age, gestation length, modes of delivery, pregnancy complications and neonatal physical development, birth defects and perinatal diseases in 106 IVF-assisted twin pregnancies (IVF group) and 256 spontaneous twin pregnancies (control group). Results The mothers in the IVF group were significantly older than those in the control group (32±4 years vs 28±4 years, P<0.05). The incidence rates of gestational hypertension and gestational diabetes in the IVF group were significantly higher than in the control group (P<0.05). No significant differences were observed for neonatal physical development, the incidence of birth defects, and the incidence and mortality of perinatal diseases (P>0.05). Conclusions Twins conceived by IVF have similar outcomes as spontaneously conceived twins in the perinatal period. However, special attention is needed to monitor the levels of blood pressure and blood glucose for pregnant women with twins conceived by IVF during prenatal checkups.

2015 Vol. 17 (1): 63-67 [Abstract] ( 5272 ) [HTML 1KB] [PDF 1424KB] ( 1504 )
68 DU Lin, SHAN Ling, WANG Bing, FENG Jun-Yan, XU Zhi-Da, JIA Fei-Yong
Serum levels of 25-hydroxyvitamin D in children with autism spectrum disorders

Objective To examine serum 25-hydroxyvitamin D levels in children with autism spectrum disorders (ASD) and to explore the relationship between vitamin D level and ASD. Methods Serum levels of 25-hydroxyvitamin D levels were determined by the HPLC-MS/MS method in 117 children with newly diagnosed ASD and 109 healthy controls. Vitamin D status were classified into normal (>30 ng/mL), insufficiency (10-30ng/mL) and deficiency (<10 ng/mL) according to 25-hydroxyvitamin D levels. Results Serum level of 25-hydroxyvitamin D (19±9 ng/mL) in children with ASD was significantly lower than that in healthy controls (36±13 ng/mL; P<0.01). The rate of vitamin D insufficiency plus deficiency in the ASD group was significantly higher than in the control group (89.7% vs 52.3%; P<0.01). Conclusions Vitamin D insufficiency or deficiency is common in children with ASD and might be as one of the environmental or genetic factors for ASD.

2015 Vol. 17 (1): 68-71 [Abstract] ( 6433 ) [HTML 1KB] [PDF 1324KB] ( 1514 )
72 ZHANG Yao-Dong, TAN Li-Na, LUO Shu-Ying, CHEN Yong-Xing, WEI Hai-Yan
Status of penis and testicular development and effects of overweight/obesity on them in boys in the Zhengzhou area

Objective To evaluate the current status of penis and testicular development in boys and the effects of overweight/obesity on their development in the Zhengzhou area of Henan Province. Methods Height, weight, waist circumference, hip circumference, penis length and testicular volume were measured in 3 546 4 to 12-year-old boys. The penis length and testicular volume were compared between the overweight/obesity and normal weight groups. Results Before 9 years of age, the testicular volume was progressively smaller, and after 9 years old, it gradually increased. By the age of 11, it increased rapidly. The penis length increased gradually between 4 and 11 years of age, and after the age of 11 it increased rapidly. Phimosis was found in 144 cases (4.01%) and cryptorchidism was found in 18 cases (0.51%). A total of 639 (18.02%) boys were overweight or obese among 3 546 boys. At the ages of 6 and 7 years, the testicular volume in the overweight/obesity group was greater than in the normal control group (P<0.05). The penis length in the overweight/obesity group was significantly shorter than in the normal control group (P<0.05) by the age of 11 years. The correlation analysis showed that the testicular volume at the ages of 4 and 5 years was positively correlated with height, weight, BMI, waist circumference and hip circumference in overweight/obese boys. The penis length at the ages of 7 and 8 years was negatively correlated with weight, waist circumference and hip circumference. By the age of 12 years, the penis length was positively correlated with the height. Conclusions The development of penis and testicles in boys in the Zhengzhou area is in line with the level of sex development of Chinese boys. Overweight/obesity adversely affects the development of penis and testicles

2015 Vol. 17 (1): 72-76 [Abstract] ( 7235 ) [HTML 1KB] [PDF 1417KB] ( 2444 )
COMPLICATED CASE STUDY
77 DENG Xiao-Lu, YIN Fei, ZHANG Guo-Yuan, DUAN Yuan-Dong
A complicated case study: Hennekam syndrome

Hennekam syndrome (HS) is a rare autosomal recessive syndrome characterized by defective lymphatic development. A 34-month-old boy with HS and who had unexplained developmental retardation and hypoalbuminemia as main clinical manifestations is reported here. He had a history of generalized edema and poor feeding. He was not thriving well. He manifested as facial anomalies (hypertelorism, flat nasal bridge and flat face), fracture of teeth, and superficial lymph nodes enlargement. He had low serum total protein, low serum albumin, and low serum immunoglobulin levels. Duodenal bulb biopsy revealed lymphangiectasia. Color Doppler ultrasound, magnetic resonance imaging and CT scan showed multi-site lymphangioma, and HS was thus confirmed. Mutations in CCBE1 and FAT4 have been found responsible for the syndrome in a part of patients. Diagnosis of the disease depends on the familial history, clinical signs, pathological findings and genetic tests.

2015 Vol. 17 (1): 77-80 [Abstract] ( 6171 ) [HTML 1KB] [PDF 1270KB] ( 1430 )
EXPERIMENTAL RESEARCH
81 HU Jian, YU Min, TANG Yun, TIAN Zhao-Fang
Effects of glucocorticoid on RAGE-NF-κB pathway in hyperoxia-induced lung tissues of neonatal rats

Objective To explore the change of RAGE-NF-κB signaling pathway during the course of hyperoxiainduced lung injury in newborn rats, and the effect of glucocorticoid on this pathway. Methods Twenty-four Sprague- Dawley neonatal rats were randomly divided into three groups (n=8 each): sham control (control group), hyperoxiainduced acute lung injury (model group) and glucocorticoid-treated acute lung injury (glucocorticoid group). Rats were sacrificed at 13 days after birth. RAGE and NF-κB expression levels in lung tissues were detected by reverse transcription polymerase chain reaction, Western blot and immunohistochemistry analysis. The levels of tumor necrosis factor α (TNF-α) and sRAGE in bronchoalveolar lavage fluid (BALF) and serum were measured using ELISA. Lung damage was evaluated by histological examinations. Results RAGE and NF-κB mRNA and protein expression levels in lung tissues were significantly increased in the model and glucocorticoid groups compared with the control group (P<0.05). Serum RAGE concentrations were significantly increased but RAGE concentrations in BALF were significantly reduced in the model and glucocorticoid groups compared with the control group (P<0.05). RAGE and NF-κB expression at both mRNA and protein levels in lung tissues was significantly lower in the glucocorticoid group than in the model group (P<0.05). RAGE concentrations were significantly lower in serum (P<0.05), but were higher in BALF (P<0.05) in the glucocorticoid group than in the model group. Conclusions RAGE-NF-κB pathway plays an important role in hyperoxia-induced lung injury in neonatal rats, and glucocorticoid administration may play a protective role against the lung injury by down-regulating RAGE-NF-κB signaling pathway.

2015 Vol. 17 (1): 81-85 [Abstract] ( 4985 ) [HTML 1KB] [PDF 1775KB] ( 1160 )
86 YAO Ru-Jie, LIU Chen-Tao, HUANG Rong, JIANG Yan, YANG Ai-Mei
Effect of budesonide aerosol treatment on expression of glucocorticoid receptor and nuclear factor-κB in asthmatic mice

Objective To study the effect of budesonide aerosol inhalation on the expression of glucocorticoid receptor (GR) and nuclear factor (NF)-κB in asthmatic mice. Methods Twenty-four healthy male BALB/c mice aged 6 to 8 weeks were randomly divided into three groups (n=8 each): normal saline (control group), asthma model (asthma group) and budesonide-treated asthma (BUD group). Asthma was induced by intraperitoneal injection of ovalbumin (OVA) and aluminium hydroxide suspension and aerosol inhalation of OVA solution. Mice were sacrificed 24 hours after the last challenge. Eosinophil count in the bronchoalveolar lavage fluid (BALF) was determined. Pathological examination of the lung tissues was performed and the expression levels of GR and NF-κB were measured by immunohistochemical analysis. Results Eosinophil count in the BALF was significantly higher in the asthma and BUD groups than in the control group (P<0.05). BUD treatment decreased eosinophil count in the BALF compared with the asthma group (P<0.05). The lung tissues in the BUD group showed a less severe infiltration of eosinophils and lymphocytes compared with the asthma group. The percentage of GR-positive cells in the asthma group decreased significantly compared with the control group (P<0.05), and the percentage of GR-positive cells in the BUD group increased significantly compared with the asthma group (P<0.05). Compared with the control group, the percentage of NF-κB-positive cells increased significantly in the asthma group (P<0.05), and the percentage of NF-κB positive cells in the BUD group was significantly reduced compared with the asthma group (P<0.05). Conclusions The action mechanism of budesonide in treating asthmatic mice may be related to the upregulation of GR expression and the inhibition of NF-κB activity

2015 Vol. 17 (1): 86-89 [Abstract] ( 5174 ) [HTML 1KB] [PDF 2075KB] ( 1161 )
CLINICAL EXPERIENCE
90 ZHANG Xi-Yuan, MEI Hong, WANG Bao-Xiang
Clinical analysis of childhood pseudomembranous colitis

No abstract available

2015 Vol. 17 (1): 90-92 [Abstract] ( 3544 ) [HTML 1KB] [PDF 1445KB] ( 913 )
93 ZHONG Mei, ZHONG Xiao-Ming, XIAO Wen-Jun
Misdiagnosis of aneurysm of thoracic aorta in 6 children

No abstract available

2015 Vol. 17 (1): 93-94 [Abstract] ( 3942 ) [HTML 1KB] [PDF 1076KB] ( 962 )
CASE REPORT
95 Tao Xi-Cheng, Wu De, ZHOU Zi-Yun, QIAN Ling-Ling
Cerebral venous sinus thrombosis and pulmanary embolism in a child

No abstract available

2015 Vol. 17 (1): 95-96 [Abstract] ( 3972 ) [HTML 1KB] [PDF 1647KB] ( 1025 )
97 DAI Hong-Mei, LAIN Lang, DENG Yuan-Ying, LIU Sheng, ZHAO Ming-Yi, LI Yi-Ding, ZHAO Ling-Ling
A case report of sigmoid sinus thrombosis following mastoiditis

No abstract available

2015 Vol. 17 (1): 97-99 [Abstract] ( 4177 ) [HTML 1KB] [PDF 1824KB] ( 1242 )
REVIEW
100 ZHANG Jing-Liao, ZHU Xiao-Fan
Defectiveness of bone marrow mesenchymal stem cells in acquired aplastic anemia

The defectiveness of bone marrow mesenchymal stem cells (BM-MSCs) in acquired aplastic anemia (AA) has been a frequent research topic in recent years. This review summarizes the defectiveness of BM-MSCs which is responsible for the mechanism of acquired AA and the prospective application of BM-MSCs in the treatment of acquired AA. An increasingly number of laboratory statistics has demonstrated that the defectiveness of BM-MSCs is more likely to play an important role in the pathogenesis of AA, namely, the apparently different biological characteristics and gene expression profiles, the decreased ability of supporting hematopoiesis as well as self-renewal and differentiation, and the exhaustion of regulating immune response of hematopoietic environment. Those abnormalities continuously prompt AA to become irreversible bone marrow failure along with the imbalanced immunity. With deepening research on MSCs, infusion of MSCs for the primary purpose of recovering hematopoietic microenvironment may become a new approach for the treatment of AA.

2015 Vol. 17 (1): 100-106 [Abstract] ( 5659 ) [HTML 1KB] [PDF 1647KB] ( 1626 )
107 DAI Dong-Ling
Research advances in pediatric nonalcoholic fatty liver disease

In recent years, nonalcoholic fatty liver disease (NAFLD) has increased because of the growing prevalence of obesity and overweight in the pediatric population. It has become the most common form of chronic liver diseases in children and the related research on NAFLD is expanded. The "two-hit" and "multiple hit" hypothesis have been widely accepted, and some research has shown that genetic, diet structure and environmental factors appear to play a crucial role in the development of pediatric NAFLD. Though it is expected by researchers, there is not an available satisfactory noninvasive marker for the diagnosis of this disease. Fortunately, some new non-invasive prediction scores for pediatric NAFLD have been developed. There is currently no established special therapy, and lifestyle intervention should be adequate for most cases of NAFLD in children. This article reviews the advances in the current knowledge and ideas concerning pediatric NAFLD, and discusses the diagnosis, perspective therapies and scoring methods for this disease.

2015 Vol. 17 (1): 107-112 [Abstract] ( 5231 ) [HTML 1KB] [PDF 1544KB] ( 1689 )
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