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2012 Vol.  14 No.  3
Published: 2012-03-15
CLINICAL RESEARCH
COMPLICATED CASE STUDY
EXPERIMENTAL RESEARCH
CLINICAL EXPERIENCE
CASE REPORT
REVIEW
COMPLICATED CASE STUDY
161 QU Su-Qing, YANG Li-Cai, LUAN Zuo, DU Kan, YANG Hui
Acute encephalopathy due to late-onset maple syrup urine disease in a school boy
Maple syrup urine disease is a common amino acids metabolic disease. In most patients, onset occurs in the neonatal period and infancy. In this study, the case of a school boy with acute encephalopathy due to late-onset maple syrup urine disease is summarized. The boy (8.5 years) was admitted because of acute encephalopathy after suffering from infection for two days at the age of eight and a half years. Metabolic acidosis, hyperuricemia and decreased protein level in cerebrospinal fluid were found by general laboratory tests. Magnetic resonance imaging of the brain revealed signal intensity abnormalities in the bilateral cerebellum dentate nucleus, brainstem, thalamus, putamen, caudate nucleus and cortex of the cerebral hemispheres. On T1WI and T2WI scanning, hyperintensive signal was found. Blood leucine and valine were significantly elevated. Urinary 2-hydroxy isovaleric acid, 3-hydroxybutyric acid, 2-keto isovaleric acid, and 2-keto acid also increased. Both the blood amino acid and urine organic acid profiles led to the diagnosis of maple syrup urine disease. In the acute period, the patient was treated with a large dose of vitamin B1, glucose, L-carnitine and a protein-restrict diet. The patient′s condition improved significantly after five days of treatment, and he recovered completely two days later. Afterwards, treatment with vitamin B1, L-carnitine and a protein-restrict diet (1 g/kg/day) was continued. One and a half months later, blood amino acids and urine organic acids returned to normal. Magnetic resonance imaging of the brain also indicated a great improvement. It was concluded that inborn metabolic disease should be considered in the patients with an onset similar to acute encephalopathy. Early diagnosis and proper treatment can prevent brain damage and improve prognosis.
2012 Vol. 14 (3): 161-164 [Abstract] ( 6148 ) [HTML 1KB] [PDF 1074KB] ( 1435 )
CLINICAL RESEARCH
165 CUI Xian, LI Juan
Fecal calprotectin levels in preterm infants during the early neonatal period
OBJECTIVE: To explore whether fecal calprotectin (f-calprotectin, FC) may be an early marker for the identification of gastrointestinal injury in preterm infants by measuring FC concentration and changes of FC concentration in infants with different perinatal factors. METHODS: FC concentration was measured using ELISA in 76 samples (50-100 mg) obtained from 38 preterm infants (gestation 29 to 33 weeks), at birth and on the third day after birth (the 1st and the 2nd FC levels). The infants were classified into three groups according to the reason for preterm birth: premature rupture of membranes (PROM; n=13), spontaneous preterm birth (SPB; n=5) and indicated preterm birth (IPB; n=20). RESULTS: There were no significant differences between the 1st and 2nd FC levels in the 38 infants. The 1st FC level in the PROM group was significantly higher than that in the IPB group (P<0.05). The 1st FC level in infants whose mothers received antenatal antibiotics treatment was significantly lower. Infants born by cesarean section had a significantly lower 1st FC level than those born by vaginal delivery (P<0.05). Both the 1st and 2nd FC levels in infants with feeding intolerance were significantly higher than in infants with feeding tolerance (P<0.05). The 2nd FC level was negatively correlated with 1 min Apgar score (r=-0.3, P<0.05). CONCLUSIONS: Premature rupture of membranes and perinatal asphyxia may lead to an increase in the excretion of FC in preterm infants. FC may be used as a marker for early evaluation of gastrointestinal conditions in preterm infants.
2012 Vol. 14 (3): 165-168 [Abstract] ( 6528 ) [HTML 1KB] [PDF 959KB] ( 1426 )
169 LUO Chun-Chou, LI Rui-Ling, ZHANG Shu-Yun, LIN Hui-Qing
Application of non-nutritive sucking in preterm infants requiring mechanical ventilation
OBJECTIVE: To study the role of non-nutritive sucking in preterm infants requiring mechanical ventilation therapy. METHODS: In a study of 68 preterm infants requiring mechanical ventilation, a randomly selected observation group of 35 infants was provided with non-nutritive sucking and a control group of 33 infants was not. The time to reach full enteral feeding, birth weight recovery time, body weight growth rate, hospitalization time, feeding tolerance and mechanical ventilation-related complications were compared between the two groups. RESULTS: The time to reach full enteral feeding and hospitalization time were shorter (P<0.01), the incidence of feeding intolerance was lower (P<0.05), and the body weight growth rate was higher (P<0.05) in the observation group than in the control group. There were no significant differences in the birth weight recovery time and the incidence of mechanical ventilation-related complications between the two groups. CONCLUSIONS: The use of non-nutritive sucking can increase growth rate, shorten hospitalization time and improve feeding tolerance in preterm infants requiring mechanical ventilation therapy. Moreover, it does not result in an increase in mechanical ventilation-related complications.
2012 Vol. 14 (3): 169-171 [Abstract] ( 6122 ) [HTML 1KB] [PDF 942KB] ( 1477 )
172 MIAO Po, SUN Bing, FENG Xing
Treatment of myocardial damage with creatine phosphate following neonatal asphyxia: a meta-analysis
OBJECTIVE: To evaluate the effects of creatine phosphate (CP) in the treatment of myocardial damage following neonatal asphyxia. METHODS: Medical databases were searched for a systematic literature review and meta-analysis of randomized and quasi-randomized trials on the treatment of myocardial damage with CP following neonatal asphyxia. The data was analyzed using Review Manager 5.1. RESULTS: Six trials involving 400 patients (CP treatment/control: 202/198) were included in the survey. The meta-analysis indicated that CP treatment for 7 days decreased serum myocardial enzyme levels (CK, CK-MB, LDH, HBDH and cTnI levels). Both the total effective rate (RR: 1.29; 95% CI: 1.12, 1.48) and the significantly effective rate (RR: 1.78; 95% CI: 1.32, 2.41) in the CP treatment group were significantly higher than in the control group. CP treatment reduced the hospitalization period by 4.07 days compared with the control group (95% CI: -5.25, -2.89). CONCLUSIONS: CP treatment appears to be more effective than routine treatment alone for myocardial damage following neonatal asphyxia. It appears to be safe and it can both decrease serum myocardial enzyme levels and shorten the period of hospitalization. However, as the evidence obtained in this study is not robust due to the poor quality of current studies, further studies of high-quality, large-scale trails are needed.
2012 Vol. 14 (3): 172-176 [Abstract] ( 7318 ) [HTML 1KB] [PDF 1207KB] ( 2280 )
177 HAN Yu-Jie, YU Sheng-Lin, TAO Yun-Zhen
Urinary tract infections in the neonatal intensive care unit: clinical analysis of 229 cases
OBJECTIVE: To study the clinical features, distribution of pathogens, drug susceptibility, and treatment effectiveness in neonates with urinary tract infection (UTI) and admitted to the neonatal intensive care unit (NICU). METHODS: The clinical data of 229 neonates who developed UTI during their stay in the NICU were retrospectively studied. RESULTS: The main clinical manifestations of these children included fever/irregular body temperature, refusing to milk feeding, jaundice, vomiting, diarrhea, poor weight gain, and lethargy. The top three pathogens were Escherichia coli, Enterococcus feces, and Klebsiella pneumoniae. Escherichia coli and Klebsiella pneumoniae were highly resistant to ampicillin and most cephalosporins (≥85%), and were highly sensitive to imipenem (100%), meropenem (100%), cefoperazone/sulbactam and piperacillin/tazobactam (>90%). Enterococcus feces were highly resistant to penicillin (100%), rifampicin (84%). and gentamicin (79%), but were sensitive to vancomycin. CONCLUSIONS: The clinical manifestations of neonatal UTI are often atypical and manifested as systemic symptoms. The main pathogenic bacterium is Escherichia coli, and the isolation rate of enterococci can also be high. Most pathogenic bacteria are resistant to penicillin and cephalosporins, and therefore decision-making on drug administration must be based on the results of drug sensitivity tests.
2012 Vol. 14 (3): 177-180 [Abstract] ( 6280 ) [HTML 1KB] [PDF 1017KB] ( 1953 )
181 FU Han-Dong, LU Min, YANG Shu-Jie, XIA Yao-Zong, WU Jian-Wen
Causes of neonatal death in the Xiaogan region of Hubei Province between 2007 and 2010
OBJECTIVE: To study the causes of neonatal death in the Xiaogan region of Hubei Province between 2007 and 2010. METHODS: The causes of 664 cases of neonatal death between 2007 and 2010, from 7 counties (cities) of the Xiaogan region of Hubei Province, were investigated. RESULTS: Neonatal mortality in the Xiaogan region between 2007 and 2010 accounted for 51.12% of under-five mortality. The top three causes of neonatal death in this region were preterm birth/low birth weight, birth asphyxia and congenital diseases. CONCLUSIONS: It is important to reduce neonatal mortality through the prevention of preterm birth, low birth weight, birth asphyxia and congenital defects.
2012 Vol. 14 (3): 181-183 [Abstract] ( 4964 ) [HTML 1KB] [PDF 939KB] ( 1027 )
184 PAN Hua, SUN Li-Rong
Effect of bacillus Callmette-Guérin on cytotxicity of cytotoxic T lymphocyte from children with acute lymphoblastic leukemia for killing HL-60 cells in vitro
OBJECTIVE: To study the effect of bacillus Callmette-Guérin (BCG) on cytotxicity of cytotoxic T lymphocyte (CTL) from human peripheral blood of children with acute lymphoblastic leukemia (ALL) for killing HL-60 cells in vitro. METHODS: The mononuclear cells were isolated from peripheral blood of ALL children and healthy children, and were cultured with RPMI1640, interleukin-2 (IL-2), phytohemagglutinin (PHA) and BCG.The growth of CTLs was observed by light microscopy. The proportions of CD3, CD3+CD4+ and CD3+CD8+ were determined by flow cytometry 10 days after culture. MTT method was performed to detect the cytotoxicity of CTLs for killing HL-60 cells. RESULTS: Neither the cell number nor the volume of CTLs changed significantly within 2 days of culture, but both began increasing on the 3rd day of culture and reached a peak on the 6-10th days. On the 10th day of culture, the cell number of CTLs in the BCG treatment group was much higher than in the group without BCG treatment. The CD3+CD8+ proportion in the leukemia group was much higher than in the control group. With the effect of BCG, the CD3+CD8+ proportion of the two groups became much higher. The cytotoxicity of CTLs for killing HL-60 cells in the leukemia group was weaker than in the control group. CONCLUSIONS: BCG along with IL-2 and PHA promotes the proliferation of CTLs and enhances the ability of CTLs in killing HL-60 cells.
2012 Vol. 14 (3): 184-187 [Abstract] ( 4533 ) [HTML 1KB] [PDF 1063KB] ( 1123 )
188 ZHANG Yao-Dong, TAN Li-Na, HU Qun, WEI Hai-Yan, ZHANG Xiao-Ling, XIONG Hao
Immunophenotyping and its clinical significance in childhood acute lymphoblastic leukemia
OBJECTIVE: To study the immunophenotype and its relationship with clinical characteristics in children with acute lymphoblastic leukemia (ALL). METHODS: Bone marrow or blood samples (2-3 mL) with heparin anticoagulation from 139 children with ALL were obtained, and immunophenotypes were identified by flow cytometry. RESULTS: In 139 ALL children, there were 103 cases (74.1%) of B-ALL, 24 cases (17.3%) of T-ALL, 12 cases of T/B biphenotypic (8.6% of T/BALL). In the 103 children with B-ALL, CD19 (90.3%), CD10 (83.5%) and CD20 (27.2%) were expressed as major antigens. In the 24 children with T-ALL, the major antigens were CD3 (79.2%), CD7 (66.7%) and CD5 (33.3%). In the 12 children with B/T-ALL, T-lymphoid antigens included CD7 (50.0%) and CD5 (41.7%), while the B-lymphoid antigens included CD19 (50.0%) and CD10 (33.3%). Of the 139 children with ALL, 32 cases (23.0%) showed myeloid antigen expression (My+ ALL) and the main expression antigens were CD13, CD33, CD14 and MPO. CD34 was expressed in 31 cases. CD34-positive expression (15.6%) in My+ ALL children was significantly lower than in My-ALL children (24.3%). HLA-DR was expressed in 82 of the 139 ALL children. The expression of CD10, CD34 and HLA-DR in the standard-risk, medium risk, high-risk ALL children was significantly different. There were significant differences in gender and incidence of bleeding between the My+ ALL and My-ALL groups (P<0.05). CONCLUSIONS: Immunetyping can differentiate the sources of leukemic cells. The expression of CD10, CD34 and HLA-DR antigen is related to the clinical classification of ALL.
2012 Vol. 14 (3): 188-191 [Abstract] ( 8038 ) [HTML 1KB] [PDF 972KB] ( 1925 )
192 YANG Xiao-Hong, WU Qian, WEN Bai-Ping, DAI Hong-Jian, ZHUANG Yu, YANG Jun-Yi
Prevalent characteristics in children with hand-foot-mouth disease in the Kunming area in 2010
OBJECTIVE: To study the prevalent characteristics in children with hand-foot-mouth disease (HFMD) in the Kunming area in 2010.MethodsThe clinical data of 13286 outpatient and inpatient children with HFMD in Kunming Children′s Hospital between January and December, 2010, including 8 death cases, 715 serious cases and 12563 non-serious cases, were retrospectively studied. RESULTS: Human enterovirus was detected in 8200 children (61.72%). Children infected with EV71 and CoxA16 accounted for 29.49% (2418/8200) and 53.21% (4363/8200), respectively. Seventy-five children (0.91%) were found to have a mixed infection of the two viruses. Other types of human enterovirus were detected in 1344 children (16.39%). There were significant differences in the total positive rate of human enterovirus in the four quarters of the year (P<0.01). The total positive rate in the second quarter represented the highest proportion (71.56%), and the number of patients was also highest, accounting for 52.94% of the total number of patients in the whole year. EV71 infection was common in the serious case group while CoxA16 was found to be the main pathogen in the non-serious case group. Serious cases were common in children under three years old. In the positive EV71 cases, the viral load of EV71 was not statistically different between the death cases, serious and non-serious cases. CONCLUSIONS: In 2010, children with HFMD in the Kunming area were mainly infected with CoxA16. Serious cases of HFMD were more common in those who were infected with EV71, and the majority of serious infections were suffered by children who were less than three years old. The viral load was not associated with disease severity. The highest morbidity rate was in the second quarter of the year.
2012 Vol. 14 (3): 192-194 [Abstract] ( 4803 ) [HTML 1KB] [PDF 945KB] ( 1238 )
195 LIANG Yong-Kui, LI Na, YANG Jin-Zhi, DENG Bing, XIE Rong-Heng, SHU Sha, LI Xue
Epidemiologic characteristics of hand-foot-mouth disease in Guiyang between 2008 and 2010
OBJECTIVE: To study the epidemiologic characteristics of hand-foot-mouth disease (HFMD) in Guiyang between 2008 and 2010. METHODS: The epidemiologic characteristics of HFMD were analyzed by descriptive statistical methods based on the data from the China Information System for Disease Control and Prevention. RESULTS: A total of 27383 cases of HFMD were recorded in Guiyang between 2008 and 2010. The incidence of HFMD increased from 66.4439/100000 in 2008 to 163.9276/100000 in 2009 and 471.5515/100000 in 2010 (P<0.01). The mortality rate was 0.1026/100000 in 2010, which was significantly lower than in 2009 (0.2821/100000) (P<0.05). HFMD occurrence showed seasonality and reached a peak between April and June. HFMD cases were commonly noted in children under 5 years old, and especially in children under 3 years old. The main detected pathogen was human enterovirus 71 (EV17) in 2009. Whereas in 2010 the disease was mainly caused by CoxA16 and other intestinal viruses. CONCLUSIONS: The incidence of HFMD in Guiyang increased year by year from 2008 to 2010, but the mortality rate decreased year by year. HFMD occurrence showed an obvious seasonality. HFMD was common in children under the age of five. The main pathogens of this disease included EV17, CoxA16 and other intestinal viruses.
2012 Vol. 14 (3): 195-197 [Abstract] ( 5031 ) [HTML 1KB] [PDF 1001KB] ( 1360 )
198 ZHU Mei-Hua, LIANG Min, WANG Zhi-Jian, WEN Hong-Yan
Value of antiviral therapy for infectious monocytosis in children
OBJECTIVE: To study the value of antiviral therapy for infectious monocytosis (IM) in children by comparing the near-term therapeutic efficacies and long-term follow-up results in children with this disorder between receiving antiviral therapy or not. METHODS: The medical data of IM children between 1999 and 2009 were retrospectively reviewed. A total of 172 cases with a follow-up visit period of 1 year and more were eligible. The children were classified into three groups according to the treatment protocol: ganciclovir treatment (n=49), acyclovir treatment (n=72) and symptomatic treatment (control; n=51). The children in the ganciclovir group received an intravenous drip of 10 mg/kg per day of ganciclovir, administered in twice-daily doses; Seven days later the drip volume was changed to 5 mg/kg, administered once each day; the total course lasting 10-14 days. The children in the acyclovir group received acyclovir orally at 20 mg/kg per day, administered in three times daily doses; the total course lasting 10-14 days. The children in the control group received symptomatic treatment only. In the three groups, indicators including fever course, improvement of isthmitis symptoms, lymph node retraction, hepatic and splenic lymph node retraction time, atypical lymphocyte fallback time and alteration of granulocyte amount after drug use were observed. The long-term follow-up visits covered such indicators as blood routine reexamination, hepatic function, liver and spleen B-ultrasonography, recovery rate, recurrence rate and mortality rate. RESULTS: In the acute phase, there were no differences in terms of fever course, isthmitis improvement, hepatic and splenic lymph node retraction time and the time of atypical lymphocyte falling back to below 10% among the three groups (P>0.05). During the period of follow-up visits between 1 year and 8 years and 10 months, no significant differences were observed in the recovery rate, the recurrence rate and the mortality rate among the three groups (P>0.05). CONCLUSIONS: The efficacies of antiviral therapy for IM children appear to be similar to non-antiviral therapy, suggesting that antiviral therapy fails to be beneficial for IM children.
2012 Vol. 14 (3): 198-201 [Abstract] ( 5341 ) [HTML 1KB] [PDF 960KB] ( 1759 )
202 ZHENG Lei, LIU Dong-Hai, HAO Sheng-Ju, YI Bin, YAN You-Sheng
Value of oral mucosa cast-off cells as samples in fluorescent in situ hybridization for the diagnosis of Down's syndrome
OBJECTIVE: At present, blood and skin biopsy tissues are used in the fluorescent in situ hybridization (FISH) test for the diagnosis of Down's syndrome, however, the samples are usually obtained invasively. This study explores the value of oral mucosa cast-off cells in the FISH test, as samples obtained non-invasively, for the diagnosis of this disorder. METHODS: Peripheral blood and oral mucosa cast-off cells were sampled for the FISH test in 16 children with suspected Down's syndrome between March 2010 and March 2011. Chromosomal karyotype analysis of peripheral blood lymphocytes ("gold standard" for the diagnosis of Down's syndrome) was also conducted. RESULTS: The FISH test, in which both peripheral blood and oral mucosa cast-off cells were examined, showed that 14 children had 21-trosomy syndrome and the other 2 children had normal numbers of cromosome 21. The results of the FISH test were the same as the results of the chromosomal karyotype analysis. CONCLUSIONS: Use of the FISH method to test samples of oral musoca cast-off cells is non-invasive and reliable for the diagnosis of Down's syndrome in children, and is hence worthy of recommendation.
2012 Vol. 14 (3): 202-204 [Abstract] ( 5198 ) [HTML 1KB] [PDF 999KB] ( 1151 )
EXPERIMENTAL RESEARCH
205 LI Yu-Hua, WEN Fei-Qiu, CHEN Yi-Xin, LI Chang-Gang, ZHANG Zhao-Xia, CHEN Xiao-Wen, LI Bo
Effect of methylation inhibitor on EphB4 gene expression, proliferation and apoptosis in CEM cells
OBJECTIVE: To study the regulation of methylation inhibitor 5-aza-2'-deoxycytidine on transcription of EphB4 gene and effects on the proliferation and apoptosis of human acute lymphocyte leukemia cell line CEM.MethodsBisulfite sequencing PCR was used to detect CpG island methylation density in EphB4 promoter. The expression of EphB4 mRNA and protein was determined by Q-PCR and Western blot. MTS assay and flow cytometry were used to detect the apoptosis of CEM cells after treatment with different concentrations of 5-aza-2'-deoxycytidine (1.0, 2.5 and 5 μmol/L).ResultsMethylation of EphB4 gene promoter was detected in CEM cells (31.4%). The methylation level of EphB4 gene was down-regulated after treatment with various concentrations of 5-aza-2'-deoxycytidine. The EphB4 mRNA and protein expression in CEM cells increased after 5-aza-2'-deoxycytidine treatment. 5-Aza-2'-deoxycytidine significantly inhibited the cell growth in dose and time dependent manners. Early apoptosis rates of CEM cells increased from 4.1% to 24.8% 96 hrs after 5-aza-2'-deoxycytidine treatment. CEM cells in G1 phase decreased from 62.4% to 46.8%, cells in G2 phase increased from 2.1% to 16.2%, and CEM cells were arrested in G2 phase after treatment with 5 μmol/L 5-aza-2'-deoxycytidine for 96 hrs. CONCLUSIONS: 5-Aza-2'-deoxycytidine, an inhibitor of specific methylation transferase, can induce expression of the silent EphB4 gene in CEM cells, inhibit the proliferation of leukemia cells and induce cell apoptosis.
2012 Vol. 14 (3): 205-209 [Abstract] ( 4922 ) [HTML 1KB] [PDF 1259KB] ( 1184 )
210 SANG Kui, ZHOU Ying, LI Ming-Xia
Pulmonary vascular remodeling in neonatal rats with hypoxic pulmonary hypertension
OBJECTIVE: To study the changes of pulmonary vascular remodeling in the pathogenesis of hypoxia-induced pulmonary hypertension (HPH) in neonatal rats. METHODS: Ninety-six newborn Wistar rats were randomly divided into an HPH group (hypoxia exposure) and a control group (room air exposure). The mean pulmonary arteria pressure (mPAP), right ventricle hypertrophy index (RVHI), and vascular remodeling indexes MT% and MA% were measured 3, 5, 7, 10, 14 and 21 days after exposure (n=8 each time point). The ultrastructure of pulmonary vascular was observed under a transmission electron microscope. RESULTS: mPAP in the HPH group 3, 5, 7, 10, 14 and 21 days after hypoxia exposure increased compared with the control group (P<0.05). With the prolonged hypoxia time, mPAP in the HPH group increased more significantly. MT%, MA% and RVHI increased significantly in the HPH group after 7 days of hypoxia exposure in a time-dependent manner compared with the control group (P<0.05). The transmission electron microscopy demonstrated that small pulmonary arterials became thickened, endothelial cell hyperplasia and degeneration, and organelles increased in the HPH group after 7 days of hypoxia exposure. Besides, collagen deposition in the extracellular matrix and the changes of pulmonary vascular remodeling were observed. CONCLUSIONS: mPAP increases between 3 and 5 days of hypoxia exposure, resulting from pulmonary vascular spasm caused by hypoxia. After hypoxia of 7 days, the mPAP increases more significantly, pulmonary vascular remodeling occurs, and right ventricle becomes irreversibly hypertrophic. These changes may be intensified as the prolonged hypoxia time.
2012 Vol. 14 (3): 210-214 [Abstract] ( 5525 ) [HTML 1KB] [PDF 1120KB] ( 1234 )
221 ZHANG Zhan-Hui, ZHAO Xin-Jing, SONG Yuan-Zong, TANG Xiao-Mei, ZHA Qing-Bing
Cloning and sequence analysis of SLC25A13 transcripts in human amniocytes
OBJECTIVE: This research intends to amplify the entire coding region sequences of SLC25A13 mRNA which encodes citrin, and to investigate sequence features of the transcripts for this gene in cultured human amniocytes. This study will provide laboratory evidence for prenatal diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) at mRNA level. METHODS: One amniocyte sample was collected from a pregnant woman who underwent prenatal diagnosis of citrin deficiency and whose fetus has proven a carrier of 851del4 mutation by genomic DNA analysis. Another amniocyte sample, as a control, was from a fetus without family history of citrin deficiency. Total RNA was extracted from cultured amniocytes, cDNA was synthesized, and then nested-PCR was performed to amplify the entire coding region sequences of SLC25A13. The PCR products were cloned and analyzed by sequencing. RESULTS: The entire coding region of SLC25A13 gene was successful amplified from two cultured human amniocytes. The splice variant of SLC25A13, SLCA (normal mRNA), was identified in the two samples. SLCB (CAG insertion between exon 9-10) was identified in the control. SLCC (exon 5-11 skipping), but not transcriptional product from the allele with 851del4 mutation, was identified in the 851del4 mutation carrier. CONCLUSIONS: This study demonstrated that the entire coding region of SLC25A13 cDNA can be successfully amplified from two cultured human amniocytes, and revealed exon 5-11 skipping as a novel SLC25A13 transcript. Normal mRNA predominated in the transcripts in normal control and 851del4 mutation carrier, suggesting that the two fetuses were not at risk for NICCD. These SLC25A13 transcription features provided laboratory evidence for prenatal diagnosis of NICCD.
2012 Vol. 14 (3): 221-225 [Abstract] ( 5356 ) [HTML 1KB] [PDF 1260KB] ( 1169 )
215 ZHOU Yan, CHEN Kui-Sheng, GAO Jian-Bo, HAN Rui, LU Jing-Jing, PENG Tao, JIA Yan-Jie
miR-124-1 promotes neural differentiation of rat bone marrow mesenchymal stem cells Hot!
OBJECTIVE: To study the effects of miR-124-1 on neuronal differentiation of rat bone marrow mesenchymal stem cells (MSCs). METHODS: MSCs cells were assigned into three groups: control (uninfected and untransfected), miR-124-1+ (infected with miR-124-1), and miR-124-1- (transfected with Anti-rno-miR-124* Inhibitor). MSCs were induced by β-mercaptoethanol (β-ME) to differentiate into neurons. The fluorescence expressed by infected MSCs was observed under an inverted fluorescence microscope. MTT method was used to measure cell survival rate after transfection or infection. Immunocytochemistry, RT-PCR and Western blot methods were used to detect the expression of β3 tubulin, MAP-2 and GFAP 6 days after β-ME induction. RESULTS: The expression of miR-124-1 in the miR-124-1+ group was significantly higher 2 days after infection of lentivirus vector compared with the control group (P<0.01). In the miR-124-1- group, the cell survival rate and the miR-124-1 expression level decreased significantly 24 hrs after transfection of anti-rno-miR-124* inhibitor (P<0.01). After 6 days of β-ME induction, the protein and mRNA expression levels of β3 tubulin and MAP-2 in the miR-124-1+ group were much higher than the other two groups (P<0.01); while the expression levels of β3 tubulin and MAP-2 in the miR-124-1-group were lower than the control group (P<0.01) . The expression of GFAP in the three groups was weak (<1%). CONCLUSIONS: miR-124 might promote neuronal differentiation of rat MSCs.
2012 Vol. 14 (3): 215-220 [Abstract] ( 5912 ) [HTML 1KB] [PDF 1979KB] ( 2007 )
226 FENG De-Li, LI Hong-Juan, WANG Gui-Lan
Partial splenic embolization for the treatment of chronic idiopathic thrombocytopenic purpura in children
No abstract available
2012 Vol. 14 (3): 226-228 [Abstract] ( 4357 ) [HTML 1KB] [PDF 942KB] ( 1269 )
CLINICAL EXPERIENCE
229 JIN Zhi-Peng, CHENG Yi-Bing, WANG Qun-Si, WANG Qi, GE Yan-Jun
Drug resistance of Acinetobacter baumanii isolated from children in the pediatric intensive care unit
No abstract available
2012 Vol. 14 (3): 229-230 [Abstract] ( 3377 ) [HTML 1KB] [PDF 933KB] ( 1049 )
CASE REPORT
231 CHENG Sheng-Quan, CAO Yu-Hong, FU Rong, ZHANG Jing-Song
Osteogenesis imperfecta complicated by bilateral pallidal calcification in two sibships
No abstract available
2012 Vol. 14 (3): 231-232 [Abstract] ( 3840 ) [HTML 1KB] [PDF 1085KB] ( 1101 )
233 LIU Yu-Peng, SONG Jin-Qing, MA Yan-Yan, WU Tong-Fei, WANG Qiao, HUANG Yu, YANG Yan-Ling
Skin lesions induced by malnutrition in an infant with methylmalonic aciduria and homocysteic acidemia
No abstract available
2012 Vol. 14 (3): 233-234 [Abstract] ( 3860 ) [HTML 1KB] [PDF 923KB] ( 1193 )
235 WANG Ping-Ping
Hand foot and mouth disease complicated by peripheral facial paralysis: a case report
No abstract available
2012 Vol. 14 (3): 235-235 [Abstract] ( 3590 ) [HTML 1KB] [PDF 915KB] ( 1178 )
REVIEW
236 YU Yan-Ping, HUANG Xian-Mei
Progress in pharmacotherapy of pulmonary arterial hypertension in children
This paper provides an overview of the current state of pharmacotherapy in children with pulmonary arterial hypertension (PAH) and a brief introduction to the potentially novel pharmacologic targets for PAH. Currently, 3 classes of drugs including prostacyclin analogues, endothelin receptor antagonists and phosphodiesterase-5 inhibitors are approved for the treatment of PAH in children, which has led to improved hemodynamics, increased exercise capacity and prolonged survival. Despite these improvements, there is still a need to carry out well-designed, randomized, controlled studies with larger samples. In addition, novel drugs targeting other molecular pathways should be developed.
2012 Vol. 14 (3): 236-240 [Abstract] ( 5746 ) [HTML 1KB] [PDF 981KB] ( 1750 )
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