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QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency
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De-Yun Lu, Jun Ye, Lian-Shu Han, Wen-Juan Qiu, Hui-Wen Zhang, Jian-De Zhou, Pei-Zhong Bao, Ya-Fen Zhang, Xue-Fan Gu |
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QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency
De-Yun Lu, Jun Ye, Lian-Shu Han, Wen-Juan Qiu, Hui-Wen Zhang, Jian-De Zhou, Pei-Zhong Bao, Ya-Fen Zhang, Xue-Fan Gu
Shanghai, China
Author Affiliations: Department of Pediatric Endocrinology and Genetic Metabolism and Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China (Lu DY, Ye J, Han LS, Qiu WJ, Zhang HW, Zhou JD, Bao PZ, Zhang YF, Gu XF)
Corresponding Author: Jun Ye, MD, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, No.1665 Kong Jiang Road, Shanghai 200092, China (Tel: 86-21-25076455; Fax: 86-21-65791316; Email: yejun2314@163.com)
doi: 10.1007/s12519-014-0496-7
Background: This study aimed to investigate the mutation spectrum of the QDPR gene, to determine the effect of mutations on dihydropteridine reductase (DHPR) structure/function, to discuss the potential genotype-phenotype correlation, and to evaluate the clinical outcome of Chinese patients after treatment.
Methods: Nine DHPR-deficient patients were enrolled in this study and seven of them underwent neonatal screening. QDPR gene mutations were analyzed and confirmed by routine methods. The potential pathogenicity of missense variants was analyzed using Clustal X, PolyPhen program and Swiss-PDB Viewer 4.04_OSX software, respectively. The clinical outcomes of the patients were evaluated after long-term treatment.
Results: In 10 mutations of the 9 patients, 4 were novel mutations (G20V, V86D, G130S and A175R), 4 were reported by us previously, and 2 known mutations were identified. R221X was a hotspot mutation (27.7%) in our patients. Eight missense mutations probably had damage to protein. Six patients in this series were treated with a good control of phenylalanine level. The height and weight of the patients were normal at the age of 4 months to 7.5 years. Four patients, who underwent a neonatal screening and were treated early, showed a normal mental development. In 2 patients diagnosed late, neurological symptoms were significantly improved.
Conclusions: The mutation spectrum of the QDPR gene is different in the Chinese population. Most mutations are related to severe phenotype. The determination of DHPR activity should be performed in patients with hyperphenylalaninemia. DHPR-deficient patients who were treated below the age of 2 months may have a near normal mental development.
World J Pediatr 2014;10(3):219-226
Key words: dihydropteridine reductase;
hyperphenylalaninaemia;
tetrahydrobiopterin |
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[Abstract] [Full Text] [PDF]
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No relationship between mode of delivery and neonatal mortality and neurodevelopment in very low birth weight infants aged two years
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Jia-Jun Zhu, Ying-Ying Bao, Guo-Lian Zhang, Li-Xin Ma, Ming-Yuan Wu |
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No relationship between mode of delivery and neonatal mortality and neurodevelopment in very low birth weight infants aged two years
Jia-Jun Zhu, Ying-Ying Bao, Guo-Lian Zhang, Li-Xin Ma, Ming-Yuan Wu
Hangzhou, China
Author Affiliations: Department of Neonatology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China (Zhu JJ, Bao YY, Zhang GL, Ma LX, Wu MY)
Corresponding Author: Ming-Yuan Wu, Women's Hospital, Zhejiang University School of Medicine, 1 Xueshi Road, Hangzhou 310003, China (Tel: +86-571-89992350; Email: wumy@zju.edu.cn)
doi: 10.1007/s12519-014-0497-6
Background: To compare neonatal mortality and neurodevelopmental outcomes at two years of age in very low birth weight infants (¡Ü1500 g) born by cesarean with those by vaginal delivery.
Methods: In this retrospective, case-control study, we evaluated neonatal mortality, medical conditions and neurodevelopmental outcomes at two years of corrected age in 710 very low birth weight (VLBW) infants born between January 2005 and December 2010. Of the 710 infants, 351 were born by the cesarean and 359/710 by vaginal route.
Results: There were no significant differences in neonatal mortality between the cesarean delivery group and vaginal delivery group [56/351 (15.9%) vs. 71/359 (19.8%), P=0.20]. VLBW infants delivered by the cesarean procedure had a higher incidence of respiratory distress syndrome than those born by the vaginal route [221/351 (63.0%) vs. 178/359 (49.6%), P<0.001]. There were no differences in other neonatal morbidities, including intraventricular hemorrhage [126/351 (35.9%) vs. 134/359 (37.3%), P=0.69], bronchopulmonary dysplasia [39/351 (11%) vs. 31/359 (8.6%), P=0.38] and necrotising enterocolitis [40/351 (11.4%) vs. 32/359 (8.9%), P=0.32] between the two groups. The incidence of poor neurodevelopment after cesarean delivery was similar to that after vaginal delivery [105/351 (29.9) vs. 104/359 (29.0%), P=0.78].
Conclusions: In neither neurodevelopment nor neonatal mortality did cesarean birth offered significant advantages to VLBW infants. Moreover, the operation might be associated with an increased risk of respiratory distress syndrome for VLBW infants. The mode of delivery of VLBW infants should be largely based on obstetric indications and maternal considerations rather than perceived better outcomes for the neonate.
World J Pediatr 2014;10(3):227-231
Key words: cesarean delivery;
neonatal mortality;
neurodevelopment outcomes;
vaginal delivery;
very low birth weight |
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[Abstract] [Full Text] [PDF]
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Effect of pravastatin on endothelial dysfunction in children with medium to giant coronary aneurysms due to Kawasaki disease
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Chao Duan, Zhong-Dong Du, Yu Wang, Li-Qun Jia |
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Effect of pravastatin on endothelial dysfunction in children with medium to giant coronary aneurysms due to Kawasaki disease
Chao Duan, Zhong-Dong Du, Yu Wang, Li-Qun Jia
Beijing, China
Author Affiliations: Department of Hematology/Oncology, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China (Duan C); Department of Cardiology, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China (Du ZD); Department of Ultrasonography, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China (Wang Y, Jia LQ)
Corresponding Author: Zhong-Dong Du, MD, PhD, Department of cardiology, Beijing Children's Hospital, Nan Li Shi Road, Beijing 100045, China (Tel: 86-10-59616643; Fax: +86-10-59616643; Email: zhongdong_du2012@126.com)
doi: 10.1007/s12519-014-0498-5
Background: Ongoing low-grade inflammation and endothelial dysfunction persist in children with coronary lesions diagnosed with Kawasaki disease (KD). Statins, frequently used in the management of high cholesterol, have also shown to improve surrogate markers of inflammation and endothelial dysfunction. This study was undertaken to investigate the efficacy and safety of pravastatin in children with coronary artery aneurysms due to KD.
Methods: The study enrolled 14 healthy children and 13 male children, aged 2-10 years, with medium-to-giant coronary aneurysms for at least 12 months after the onset of KD. Pravastatin was given orally to the KD group at a dose of 5 mg/day for children under 5 and 10 mg/day for children older than 5 years. To determine the effects of pravastatin on endothelial function, high-frequency ultrasound was performed before the start of the study and 6 months after pravastatin therapy. The parameters measured were brachial artery flow-mediated dilation (FMD), non-flow mediated dilation (NMD), and carotid artery stiffness index (SI). High sensitive C-reactive protein (hs-CRP) levels, the circulating endothelial progenitor cells (EPCs) number, and serum lipid profiles were also determined at baseline and after 6 months of pravastatin treatment.
Results: Before treatment, the KD group had significantly decreased FMD (P<0.05) and increased SI and hs-CRP levels (P<0.05) compared with controls. After 6 months of pravastatin therapy, FMD improved significantly compared to the baseline KD group (3.16¡À6.49 to 10.05¡À7.74, P<0.05), but remained significantly less than that in the control group with no significant changes in NMD and SI. There were significant decreases in markers of inflammation after treatment. The hs-CRP levels decreased significantly from 2.93¡À0.81 mmol/L to 2.14¡À0.82 mmol/L (P<0.05) and the serum apo-B and apo-B/apo-A1 ratio were also reduced (P<0.05) in the KD group. However, the circulating EPC number was not significantly different between baseline and that following pravastatin treatment in the KD group and the control group (P>0.05). No significant complications were noted with paravastatin therapy.
Conclusions: Pravastatin improves endothelial function and reduces low-grade chronic inflammation in patients with coronary aneurysms due to KD. Children with coronary aneurysms due to KD may benefit from statin therapy.
World J Pediatr 2014;10(3):232-237
Key words: coronary aneurysm;
endothelial function;
endothelial progenitor cells;
Kawasaki disease;
statins |
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[Abstract] [Full Text] [PDF]
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Congenital duodenal obstruction in neonates: a decade's experience from one center
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Qing-Jiang Chen, Zhi-Gang Gao, Jin-Fa Tou, Yun-Zhong Qian, Min-Ju Li, Qi-Xing Xiong, Qiang Shu |
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Congenital duodenal obstruction in neonates: a decade's experience from one center
Qing-Jiang Chen, Zhi-Gang Gao, Jin-Fa Tou, Yun-Zhong Qian, Min-Ju Li, Qi-Xing Xiong, Qiang Shu
Hangzhou, China
Author Affiliations: Department of Pediatric General Surgery (Chen QJ, Gao ZG, Tou JF, Qian YZ, Li MJ, Xiong QX), and Department of Pediatric Thoracic Surgery, Children's Hospital, Zhejiang University Shool of Medicine, Hangzhou 310003, China (Shu Q)
Corresponding Author: Qiang Shu, Department of Pediatric Thoracic Surgery, Children's Hospital, Zhejiang University Shool of Medicine, 57 Zhugan Xiang, Hangzhou 310003, China (Tel: +86-571-87033296; Fax: +86-571-87033296; Email: shuqiang@zju.edu.cn)
doi: 10.1007/s12519-014-0499-4
Background: Congenital duodenal obstruction (CDO) is one of the most common anomalies in newborns, and accounting for nearly half of all cases of neonatal intestinal obstruction. This study aimed to review our single-center experience in managing congenital duodenal obstruction while evaluate the outcomes.
Methods: We conducted a retrospective analysis of the records of all neonates dianogsed with congenital duodenal obstruction admitted to our center between January 2003 and December 2012. We analyzed demographic criteria, clinical manifestations, associated anomalies, radiologic findings, surgical methods, postoperative complications, and final outcomes.
Results: The study comprised 287 newborns (193 boys and 94 girls). Birth weight ranged from 950 g to 4850 g. Fifty-three patients were born prematurely between 28 and 36 weeks' gestation. Malrotation was diagnosed in 174 patients, annular pancreas in 66, duodenal web in 55, duodenal atresia or stenosis in 9, preduodenal portal vein in 2, and congenital band compression in 1. Twenty patients had various combinations of these conditions. Presenting symptoms included bilious vomiting, dehydration, and weight loss. X-rays of the upper abdomen demonstrated the presence of a typical double-bubble sign or air-fluid levels in 68.64% of patients, and confirmatory upper and/or lower gastrointestinal contrast studies were obtained in 64.11%. Multiple associated abnormalities were observed in 50.52% of the patients. Various surgical approaches were used, including Ladd's procedure, duodenoplasty, duodenoduodenostomy, duodenojejunostomy, or a combination of these. Seventeen patients died postoperatively and 14 required re-operation.
Conclusions: Congenital duodenal obstruction is a complex entity with various etiologies and often includes multiple concomitant disorders. Timely diagnosis and aggressive surgery are key to improving prognosis. Care should be taken to address all of the causes of duodenal obstruction and/or associated alimentary tract anomalies during surgery.
World J Pediatr 2014;10(3):238-244
Key words: congenital;
duodenal obstruction;
neonate |
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[Abstract] [Full Text] [PDF]
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Somatic growth of lean children: the potential role of sleep
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Yan-Rui Jiang, Karen Spruyt, Wen-Juan Chen, Xiao-Ming Shen, Fan Jiang |
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Somatic growth of lean children: the potential role of sleep
Yan-Rui Jiang, Karen Spruyt, Wen-Juan Chen, Xiao-Ming Shen, Fan Jiang
Shanghai, China
Author Affiliations: Department of Developmental and Behavioral Pediatrics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China and MOE-Shanghai Key Laboratory of Children's Environmental Health (Jiang YR, Spruyt K, Chen WJ, Jiang F); Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiaotong University School of Medicine and MOE-Shanghai Key Laboratory of Children's Environmental Health, Shanghai, China (Shen XM)
Corresponding Author: Fan Jiang, Department of Developmental and Behavioral Pediatrics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, 1678 Dongfang Rd. Shanghai 200127, China (Tel: 86-21-38626012; Fax: 86-21-58706129; Email: fanjiang@shsmu.edu.cn)
doi: 10.1007/s12519-014-0500-2
Background: Despite the current obesity pandemic, childhood malnutrition remains an urgent, public health concern. Similar to the obesity pandemic, childhood malnutrition is influenced by genetic and a number of social, environmental and biological factors. In this study, we investigated the association between sleep duration and somatic growth in lean children.
Methods: A stratified, randomly clustered sampling design was used to select fifth grade students from 10 primary schools in Shanghai. Based on a body mass index below the 15th percentile a subsample of 143 lean children aged 10-11 years old was defined. Sleep duration and other potential confounders were surveyed through parental or self-report questionnaires. Body measurements were collected and used to calculate the Z score of weight, height, body mass index as well as body fat percentage.
Results: Compared with children who slept <9 hours, those who slept for ¡Ý10 hours grew taller and gained more weight after adjusting for confounding factors. When children slept 9-10 hours, they had significantly higher Z score of weight and body mass index.
Conclusions: Prolonged sleep not only benefits weight gain but also improves height in lean children. Our findings might provide important public health advice such that prolonged sleep may be an effective modifier of nutritional problems in childhood.
World J Pediatr 2014;10(3):245-250
Key words: height;
lean children;
sleep;
somatic growth;
weight |
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[Abstract] [Full Text] [PDF]
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Improved outcomes of transported neonates in Beijing: the impact of strategic changes in perinatal and regional neonatal transport network services
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Xiang-Yong Kong, Xiu-Xiang Liu, Xiao-Yang Hong, Jing Liu, Qiu-Ping Li, Zhi-Chun Feng |
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Improved outcomes of transported neonates in Beijing: the impact of strategic changes in perinatal and regional neonatal transport network services
Xiang-Yong Kong, Xiu-Xiang Liu, Xiao-Yang Hong, Jing Liu, Qiu-Ping Li, Zhi-Chun Feng
Beijing, China
Author Affiliations: Newborn Care Center, Bayi Children's Hospital, the Military General Hospital of Beijing, the People's Liberation Army, Beijing 100700, China (Kong XY, Hong XY, Liu J, Li QP, Feng ZC); Department of Pediatrics, Hospital of Binzhou Medical University, Binzhou, Shandong, China (Liu XX)
Corresponding Author: Zhi-Chun Feng, MD, PhD, Bayi Children's Hospital, the Military General Hospital of Beijing, the People's Liberation Army, 5 Nanmen Chang, Dongcheng District, Beijing 100700, China (Tel: +86-10-64075199; Fax: +86-10-66721786; Email: zhjfengzc@126.com)
doi: 10.1007/s12519-014-0501-1
Background: Infants born outside perinatal centers may have compromised outcomes due to the transfer speed and efficiency to an appropriate tertiary center. This study aimed to evaluate the impact of regional coordinated changes in perinatal supports and retrieval services on the outcome of transported neonates in Beijing, China.
Methods: Information about transported newborns between phase 1 (July 1, 2004 to June 30, 2006) and phase 2 (July 1, 2007 to June 30, 2009) was collected. The strategic changes during phase 2 included standardized neonatal transport procedures, skilled attendants, a perinatal consulting service, and preferential admission of transported neonates to the intensive care unit of the tertiary care center. Data from phase 2 (after- strategic changes) were compared with those of phase 1 (the period of pre-strategic changes) after a 12-month washout period, especially regarding the reduction in mortality and selected morbidity.
Results: There was a large increase in the number of transported infants in phase 2 compared with phase 1 (2797 vs. 567 patients). The average monthly rate of increase of transported infants was 383.3% (from 24 infants per month to 116 infants per month). The mortality rate of transported neonates reduced significantly from phase 1 to phase 2 (5.11% vs. 2.82%; P=0.005), particularly for preterm infants (8.47% vs. 4.34%; P=0.006). In addition, transported neonates during phase 2 had significantly decreased morbidities.
Conclusions: Regional coordinated strategies optimizing the perinatal services and transport of outborn sick and preterm infants to tertiary care centers improved survival outcomes considerably. These findings have vital implications for health outcomes and resource planning.
World J Pediatr 2014;10(3):251-255
Key words: morbidity;
mortality;
neonatal transport network;
outcome |
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[Abstract] [Full Text] [PDF]
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Declining age of puberty of school girls in southern Thailand
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Somchit Jaruratanasirikul, Atchariya Chanpong, Nuttaporn Tassanakijpanich, Hutcha Sriplung |
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Declining age of puberty of school girls in southern Thailand
Somchit Jaruratanasirikul, Atchariya Chanpong, Nuttaporn Tassanakijpanich, Hutcha Sriplung
Songkhla, Thailand
Author Affiliations: Department of Pediatrics (Jaruratanasirikul S, Chanpong A, Tassanakijpanich N); Epidemiology Unit, Faculty of Medicine, Prince of Songkla University, Hat-Yai, Songkhla 90110, Thailand (Sriplung H)
Corresponding Author: Somchit Jaruratanasirikul, MD, Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat-Yai, Songkhla 90110, Thailand (Tel: 66-074-429618; Fax: 66-074-429618; Email: somchit.j@psu.ac.th)
doi: 10.1007/s12519-014-0472-2
Background: Declines in the onset age of secondary sexual development have been reported in a number of recent studies in western and Asian countries. A study of Hat-Yai school girls in 1994 in Thailand showed that the ages at thelarche and menarche were 9.9 and 12.4 years, respectively. This study was to determine whether there was a decline in the average age of puberty in Hat-Yai school girls from 1994 to 2012.
Methods: A cross-sectional study was conducted in 2140 healthy Hat-Yai school girls, aged 6-18 years, from June 2011 to March 2012. Breast and pubic hair development was assessed by the Tanner staging method. Probit analysis was used to calculate the median ages of different stages of breast and pubic hair development, and the age of menarche.
Results: The median ages of girls having thelarche and menarche were 9.6 (95% CI, 9.4-9.8) and 12.2 (95% CI, 11.9-12.4) years, which declined from 9.9 (95% CI, 9.7-10.1) and 12.4 years (95% CI, 12.2-12.6) in the 1994 study respectively, however, without statistical significance. The youngest ages of girls who had breast stage 2 and menarche were 7.2 and 9.2 years, respectively. The final height at age 14 years in this cohort (157.3 cm) was 2.3 cm greater than that of girls in 1994 (155.0 cm).
Conclusions: From 1994 to 2012, the age at onset of thelarche and menarche of girls in Hat-Yai municipality declined by 0.2 and 0.3 years, respectively. The earlier age at onset of puberty had no effect on final adult height.
World J Pediatr 2014;10(3):256-261
Key words: growth;
menarche;
puberty;
secular trend;
thelarche |
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[Abstract] [Full Text] [PDF]
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Placental growth factor expression is reversed by anti-vascular endothelial growth factor therapy under hypoxic conditions
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Ai-Yi Zhou, Yu-Jing Bai, Min Zhao, Wen-Zhen Yu, Lv-Zhen Huang, Xiao-Xin Li |
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Placental growth factor expression is reversed by anti-vascular endothelial growth factor therapy under hypoxic conditions
Ai-Yi Zhou, Yu-Jing Bai, Min Zhao, Wen-Zhen Yu, Lv-Zhen Huang, Xiao-Xin Li
Beijing, China
Author Affiliations: Department of Ophthalmology, the Second Affiliated Hospital of Medical College of Xi'an Jiaotong University, Xi'an 710004, Shaanxi Province, China (Zhou AY); Key Laboratory of Vision Loss and Restoration, Ministry of Education, Department of Ophthalmology, People's Hospital, Peking University, Beijing, China (Zhou AY, Bai YJ, Zhao M, Yu WZ, Huang LZ, Li XX)
Corresponding Author: Xiao-Xin Li, MD, Key Laboratory of Vision Loss and Restoration, Ministry of Education, Department of Ophthalmology, People's Hospital, Peking University, Xizhimen South Street 11, Xi Cheng District, Beijing 100044, China (Tel: 010-88325413; Fax: 010-88325413; Email: drlixiaoxin@163.com)
doi: 10.1007/s12519-014-0502-0
Background: Clinical trials have revealed that the anti-vascular endothelial growth factor (VEGF) therapies are effective in retinopathy of prematurity (ROP). But the low level of VEGF was necessary as a survival signal in healthy conditions, and endogenous placental growth factor (PIGF) is redundant for development. The purpose of this study was to elucidate the PIGF expression under hypoxia as well as the influence of anti-VEGF therapy on PIGF.
Methods: CoCl2-induced hypoxic human umbilical vein endothelial cells (HUVECs) were used for an in vitro study, and oxygen-induced retinopathy (OIR) mice models were used for an in vivo study. The expression patterns of PIGF under hypoxic conditions and the influence of anti-VEGF therapy on PIGF were evaluated by quantitative reverse transcription-polymerase chain reaction (RT-PCR). The retinal avascular areas and neovascularization (NV) areas of anti-VEGF, anti-PIGF and combination treatments were calculated. Retina PIGF concentration was evaluated by ELISA after treatment. The vasoactive effects of exogenous PIGF on HUVECs were investigated by proliferation and migration studies.
Results: PIGF mRNA expression was reduced by hypoxia in OIR mice, in HUVECs under hypoxia and anti-VEGF treatment. However, PIGF expression was reversed by anti-VEGF therapy in the OIR model and in HUVECs under hypoxia. Exogenous PIGF significantly inhibited HUVECs proliferation and migration under normal conditions, but it stimulated cell proliferation and migration under hypoxia. Anti-PIGF treatment was effective for neovascular tufts in OIR mice (P<0.05).
Conclusion: The finding that PIGF expression is iatrogenically up-regulated by anti-VEGF therapy provides a consideration to combine it with anti-PIGF therapy.
World J Pediatr 2014;10(3):262-270
Key words: human umbilical vein endothelial cells;
oxygen-induced retinopathy;
placental growth factor;
vascular endothelial growth factor |
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[Abstract] [Full Text] [PDF]
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