World Journal Of Pediatrics-articles

Childhood obesity and food intake

Jia-Yi Huang, Sui-Jian Qi

Author Affiliations: College of Light Industry and Food Sciences, South China University of Technology, Guangzhou 510640, China (Huang JY, Qi SJ)

Corresponding Author: Sui-Jian Qi, PhD, College of Light Industry and Food Sciences, South China University of Technology, Guangzhou 510640, China (Tel: 86-13726780488; Fax: 86-20-87113842; Email: fesuijianqi@scut.edu.cn)

doi: 10.1007/s12519-015-0018-2

Background: The prevalence of obesity among children is growing in China at present. Childhood obesity reflects complex interactions of genetic, environmental, social and behavioral factors. Foods, nutritional components, and food intake patterns may be associated with the increasing obesity rate in children.

Data sources: Articles about the relationship between childhood obesity and food intake were collected from the databases including Web of Knowledge, PubMed, Elsevier and Google Scholar.

Results: Foods and nutritional components such as calcium, dietary fiber are inversely related to obesity, whereas others such as vitamin B and sugar-sweeten beverages play a positive role in obesity development. The differences in food intake pattern also influence the risk of obesity.

Conclusions: Food intake is an important factor influencing childhood obesity. One strategy to prevent childhood obesity is to take foods of moderate amount in a proper pattern.

World J Pediatr 2015;11(2):101-107

Key words: childhood;

Mizoribine in the treatment of pediatric-onset glomerular disease

Hiroshi Tanaka, Kazushi Tsuruga, Taddatsu Imaizumi

Author Affiliations: Department of School Health Science, Faculty of Education, Hirosaki University, Hirosaki 036-8560, Japan (Tanaka H); Department of Pediatrics, Hirosaki University Hospital, Hirosaki 036-8563, Japan (Tanaka H, Tsuruga K); Department of Vacular Biology, Graduate School of Medicine, Hirosaki University, Hirosaki 036-8562, Japan (Imaizumi T)

Corresponding Author: Hiroshi Tanaka, MD, PhD, Department of School Health Science, Faculty of Education, Hirosaki University, 1 Bunkyo-cho, Hirosaki 036-8560, Japan (Email: hirotana@cc.hirosaki-u.ac.jp/hirotana@hirosaki-u.ac.jp)

doi: 10.1007/s12519-015-0013-7

Background: Mizoribine (MZR) is a selective inhibitor of inosine monophosphate dehydrogenase, a key enzyme in the pathway responsible for de novo synthesis of guanine nucleotides. As an immunosuppressant, MZR has been used successfully without any serious adverse effects in the treatment of renal diseases in children as well as adults. Besides its immunosuppressive effect, MZR has been reported to ameliorate tubulointerstitial fibrosis in rats via suppression of macrophage infiltration.

Data Sources: In this review, we summarize reported possible benefits of MZR in the treatment of pediatric-onset glomerular disease.

Results: We recently observed that MZR itself selectively attenuates the expression of monocyte chemoattractant protein-1 at both the mRNA and protein levels in human mesangial cells. Since MZR binds specifically to 14-3-3 proteins and heat shock protein 60, both of which are reportedly expressed in inflamed glomeruli, MZR may bind directly to inflamed glomerular cells, thereby possibly preventing progressive damage from glomerulonephritis through a suppressive effect on activated macrophages and intrinsic renal cells. Moreover, it has recently been reported that MZR directly prevents podocyte injury through correction of the intracellular energy balance and nephrin biogenesis in cultured podocyte and rat models, suggesting a direct anti-proteinuric effect of MZR.

Conclusions: These beneficial mechanisms of action of MZR as well as its immunosuppressive effect would warrant its use in the treatment of pediatric-onset glomerular disease. Although further studies remain to be done, we believe that MZR may be an attractive treatment of choice for children with glomerular diseases from a histologic as well as clinical standpoint.

World J Pediatr 2015;11(2):108-112

Key words: macrophage infiltration;

mesangial cells;

monocyte chemoattractant protein-1;

Molecular pathophysiology of Bartter's and Gitelman's syndromes

Efstathios Koulouridis, Ioannis Koulouridis

Author Affiliations: Nephrology Department, General Hospital of Corfu, Greece (Koulouridis E); St. Elizabeth's Medical Center, Boston, USA (Koulouridis I)

Corresponding Author: Efstathios Koulouridis, MD, General Hospital of Corfu, Kontokali Corfu, TK, 49100, Greece (Tel: +30-26610-33923; Fax: +30-26610-22660; Email: koulef@otenet.gr)

doi: 10.1007/s12519-015-0016-4

Background: In the last two decades, progress in cytogenetic and genome research has enabled investigators to unravel the underlying molecular mechanisms of inherited tubulopathies such as Bartter's and Gitelman's syndromes and helped physicians to better understand not only these two pathologic entities but also renal pathophysiology and salt sensitive hypertension.

Data sources: Articles collected from PubMed and open access journals included original articles, research articles, and comprehensive reviews. They were evaluated by the authors with an special emphasis on originality and up to date information about molecular pathophysiology.

Results: Bartter's and Gitelman's syndromes are two different inherited salt loosing tubulopathies. They are characterized by various inability of distal nephron to reabsorb sodium chloride with resultant extarcellular volume contraction and increased activity of the renin angiotensin aldosterone system. Hypokalemic metabolic alkalosis is a common feature of these two forms of tubulopathies. Hypercalciuria characterizes the majority of Bartter's syndrome, and hypomagnesemia with hypocalciuria characterizes Gitelman's syndrome. Low blood pressure is a common feature among patients who suffered from these tubulopathies. Bartter's syndromes encompass a heterogeneous group of ion channels defects localized at the thick ascending limp of Henle's loop with resultant loss of function of sodium-potassium-2 chloride cotransporter. These defects result in the impairment of the countercurrent multiplication system of the kidney as well as calcium, potassium and acid base disturbances which in the majority of cases are proved lethal especially in the antenatal and/or immediate postnatal life period. The underlying pathology in Gitelman's syndrome is defined to the distal convoluted tubule and is related to loss of function of the sodium-chloride cotransporter. The results of this defect encompass the inability of extracellular volume homeostasis, magnesium and potassium conservation, and acid base disturbances which are generally mild and in the majority of cases are not life-threatening.

Conclusions: Recent advances in molecular patho-physiology of Bartter's and Gitelman's syndromes have helped physicians to better understand the underlying mechanisms of these pathologic entities which remain obscure. Data collected from experiments among genetically manipulated animals enable us to better understand the pathophysiology of mammalian kidney and the underlying mechanisms of salt sensitive hypertension and to lay a foundation for the future development of new drugs, especially diuretics and antihypertensive drugs.

World J Pediatr 2015;11(2):113-125

Key words: Bartter's syndrome;

calcium reabsorption;

Gitelman's syndrome;

magnesium reabsorption;

salt loosing tubulopathies

Prognostic significance of cytokine receptor-like factor 2 alterations in acute lymphoblastic leukemia: a meta-analysis

Ming Jia, Zhu-Jun Wang, Hai-Zhao Zhao, He-Ping Shen, Yu-Ping Cheng, Ze-Bin Luo, Yong-Min Tang

Author Affiliations: Division of Hematology-oncology, Children's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou 310003, China (Jia M, Wang ZJ, Zhao HZ, Shen HP, Cheng YP, Luo ZB, Tang YM)

Corresponding Author: Yong-Min Tang, Division of Hematology-oncology, Children's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou 310003, China (Tel: +86-571-88873450; Fax: +86-571-87033296; Email: Y_M_TANG@zju.edu.cn)

doi: 10.1007/s12519-015-0019-1

Background: Cytokine receptor-like factor 2 (CRLF2) has been shown to play a role in the pathogenesis of acute lymphoblastic leukemia (ALL). Studies have examined the relationship between CRLF2 alterations such as over-expression or deregulation and clinical outcome in childhood ALL, but the results are conflicting. This meta-analysis aimed to explore the association between CRLF2 alterations and survival of pediatric patients with ALL.

Methods: Electronic databases updated to March 2014 were searched for relevant studies. A meta-analysis was made of twelve studies including 5945 patients to evaluate the prognostic significance of CRLF2 alterations on survival in childhood ALL. Hazards ratios (HRs) with 95% confidence intervals (CIs) were pooled across the studies using a fixed-effects model.

Results: CRLF2 over-expression in childhood ALL was associated with poor prognosis in terms of relapse-free survival (RFS; HR=1.70, 95% CI=1.28-2.24, P=0.000), event-free survival (EFS; HR=1.78, 95% CI=1.05-3.01, P=0.032), and overall survival (OS; HR=2.28, 95% CI=1.42-3.65, P=0.001). The combined data also suggested that CRLF2 deregulation in childhood ALL was correlated with poor EFS (HR=1.95, 95% CI=1.46-2.61, P=0.000), RFS (HR=2.20, 95% CI=1.53-3.18, P=0.000), and OS (HR=1.89, 95% CI=1.24-2.87, P=0.003). Subgroup analysis on multivariate HRs showed that CRLF2 deregulation independently predicted a poor prognosis for childhood ALL.

Conclusions: The present meta-analysis reveals that both CRLF2 over-expression and deregulation are associated with poor prognosis in pediatric patients with ALL.

World J Pediatr 2015;11(2):126-133

Key words: acute lymphoblastic leukemia;

cytokine receptor-like factor 2;

Cerebral ultrasound abnormalities in offsprings of women with C677T homozygous mutation in the MTHFR gene: a prospective study

Laura Pogliani, Chiara Cerini, Francesca Penagini, Piergiorgio Duca, Chiara Mameli, Gian Vincenzo Zuccotti

Author Affiliations: Department of Pediatrics (Pogliani L, Cerini C, Penagini F, Mameli C, Zuccotti GV), Department of Clinical Sciences, L. Sacco Hospital, University of Milan, 74 GB Grassi, Milan, IT 20157, Italy (Duca P)

Corresponding Author: Chiara Cerini, MD, Department of Pediatrics, L. Sacco Hospital, University of Milan, 74 GB Grassi, Milan, IT 20157, Italy (Tel: +39(0)239042253; Fax: +39(0)239042253; Email: chiaracerini82@gmail.com)

doi: 10.1007/s12519-014-0490-0

Background: Perinatal stroke is a common cause of neurologic disability. Being clinically under-recognized, its true incidence is not known. Maternal thrombophilia is likely to be a predisposing factor. To date, a general consensus for evaluation of babies born to mothers with genetic thrombotic predisposition is missing. This study was undertaken to assess the frequency of cerebral abnormalities in the offspring of women with homozygous C677T mutation in the MTHFR gene, and to seek for association with additional maternal or pregnancy risk factors.

Methods: Mother-infant pairs were consecutively recruited from October 2006 through February 2013. Neonates underwent a thorough physical examination at birth, and a cerebral ultrasound examination (cUS) was performed within 24 hours of their life. In neonates with major cerebral lesions, a thrombophilia panel test was obtained. Follow-up cUS was performed in babies with major or minor cerebral abnormalities.

Results: Ninety-one neonates (47 males) were enrolled. By cUS, abnormalities were detected in 18 (19.8%) neonates. Twelve neonates were diagnosed with a minor lesion; a major ischemic/hemorrhagic lesion was found in 6 neonates. There were a neat male preponderance and significant associations with a history of suspected miscarriage, maternal coagulation factors gene mutations, and reduced protein S or protein C activity.

Conclusions: Our data confirmed a high incidence of cerebral abnormalities in neonates born to women with C677T homozygous mutation in the MTHFR gene. cUS at birth proved to be an effective screening tool or a diagnostic test, that should be routinely performed in babies born to mothers with known thrombotic predisposition.

World J Pediatr 2015;11(2):134-140

Key words: cerebral ultrasound;

maternal thrombophilia;

methylenetetrahydrofolatereductase

perinatal stroke

Epidemiologic features of mumps in Taiwan from 2006 to 2011: a new challenge for public health policy

Chian-Ching Chen, Chien-Chih Lu, Bo-Hua Su, Kow-Tong Chen

Author Affiliations: Department of Business Administration, National Taiwan University of Science and Technology, Taipei, China (Chen CC); Department of Thoracic Surgery, Chi-Mei Medical Center, Liouying Campus, Tainan, China (Lu CC); Department of Public Health, College of Medicine, National Cheng Kung University, Tainan, China (Su BH, Chen KT); Department of Occupational Medicine, Tainan Municipal Hospital, Tainan, China (Chen KT)

Corresponding Author: Kow-Tong Chen, MD, Department of Occupational Medicine, Tainan Municipal Hospital, No. 670, Chongde Road, East District, Tainan, China (Tel: +886-6-2609926; Fax: +886-6-2606351; Email: kowton@ms81.hinet.net; ktchen@mail.ncku.edu.tw)

doi: 10.1007/s12519-014-0525-6

Background: The adoption of a second dose of the measles-mumps-rubella (MMR) vaccine among Taiwanese school children began in 2001. However, during that time, mumps cases continued to occur. The purpose of the present study was to assess the epidemiology and vaccination policy for mumps in Taiwan.

Methods: We examined the data on mumps cases collected by the Taiwan Centers for Disease Control (Taiwan CDC) between 2006 and 2011.

Results: During the 6-year study period, a total of 6612 cases of mumps were reported to the Taiwan CDC. Of the patients with known vaccination status, 62% received one dose of the MMR vaccine or no vaccine. The incidence of mumps ranged from 4.18 to 5.28 per 100 000 population and peaked in 2007. Males had a higher incidence of mumps than females (5.9 vs. 3.7 per 100 000 population; P=0.024). Children between 5 and 6 years of age had the highest incidence of mumps, and those 20 years and older had the lowest incidence. Compared to those who received two doses of the MMR vaccine, patients who were not vaccinated or received a single dose of the vaccine had a higher risk of suffering from complications and/or hospitalization.

Conclusions: In Taiwan, more than 60% of mumps cases received either no dose or one dose of the MMR vaccine. Monitoring mumps through biological testing and instituting a second dose of the MMR vaccine for children is needed for the elimination of mumps in Taiwan.

World J Pediatr 2015;11(2):141-147

Key words: epidemiology;

measles-mumps-rubella vaccine;

Radiologic factors related to double-bar insertion in minimal invasive repair of pectus excavatum

Ki Hwan Kim, Ki Yeol Lee, Jung Bok Lee, Kyung-Sook Yang, Jinwook Hwang, Bo Kyung Je, Hyung Joo Park

Author Affiliations: Department of Radiology, Korea University College of Medicine, Ansan, Korea (Kim KH, Lee KY, Je BK); Department of Clinical Epidemiology and Biostatics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea (Lee JB); Department of Biostatistics, Korea University College of Medicine, Seoul, Korea (Yang KS); Department of Thoracic Surgery, Korea University College of Medicine, Ansan, Korea (Hwang J); Department of Thoracic and Cardiovascular Surgery, Seoul St. Mary's Hospital, the Catholic University of Korea, Seoul, Korea (Park HJ)

Corresponding Author: Ki Yeol Lee, MD, PhD, Department of Radiology, Korea University Ansan Hospital, Korea University College of Medicine, 516, Gojan 1-dong, Danwon-gu, Ansan-si, Gyeonggi-do 425-707, Korea (Tel: +82-31-412-5228; Fax: +82-31-412-5226; Email: Kiylee@korea.ac.kr)

doi: 10.1007/s12519-014-0522-9

Background: Pectus excavatum is the most common congenital chest wall deformity, with a high incidence in live births. This study aimed to evaluate the measured factors on CT images related to the number of pectus bars for surgical correction.

Methods: A total of 497 patients who had undergone minimally invasive repair between April 2007 and July 2011 were classified into single-bar (n=358) and double-bar (n=139) insertion groups. We measured eight distinct distances and one angle on CT scans to reflect quantitative assessment. Univariate analysis and multivariate logistic regression analysis were performed to detect statistically significant association between radiologic measurements and the pectus bars required.

Results: After adjusting for age and gender, the transverse distance (T), the transverse distance of the depression area (A), the inclined distance of the depression area (B), the AP distance of the depression area (C), the depression angle (G), and the eccentric distance of deformity (E) were significantly correlated with double-bar insertion. The regression model showed that age (P<0.0001), gender (P<0.0001), depression angle (G) (P<0.0001), direction of the depression (DD) (P<0.0001) and depression depth (D) (P<0.0001) were significantly associated with double-bar insertion.

Conclusion: CT scan provides useful factors which can be of assistance in predicting the number of pectus bars for the surgical correction of pectus excavatum.

World J Pediatr 2015;11(2):148-153

Key words: computed tomography;

pectus excavatum

Changing pattern of indications of endoscopic retrograde cholangiopancreatography in children and adolescents: a twelve-year experience

Carlos O Kieling, Cristiane Hallal, Camila O Spessato, Luciana M Ribeiro, Helenice Breyer, Helena AS Goldani, Ismael Maguilnik

Porto Alegre-RS, Brazil

Author Affiliations: Post-Graduate Program of Sciences in Gastro-enterology and Hepatology, Universidade Federal do Rio Grande do Sul (Kieling CO, Hallal C, Goldani HAS); Pediatric Gastroenterology Unit, Hospital de Clínicas de Porto Alegre, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Brazil (Kieling CO, Hallal C, Spessato CO, Ribeiro LM, Goldani HAS); Endoscopy Service, Hospital de Clínicas de Porto Alegre, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Brazil (Breyer H, Maguilnik I)

Corresponding Author: Cristiane Hallal, Rua Ramiro Barcelos 2350, Porto Alegre-RS 90035-903, Brazil (Tel: 55-51-33597859; Fax: 55-51-33597859; Email: cris.hallal@yahoo.com)

doi:10.1007/s12519-014-0518-5

Background: There are few data regarding endoscopic retrograde cholangiopancreatography (ERCP) usefulness in children and adolescents. We reviewed the long-term experience with diagnostic and therapeutic ERCP in a tertiary single center in Southern Brazil.

Methods: A retrospective chart review of patients aged 0-18 years who had undergone ERCPs from January 2000 to June 2012 was done. Data on demographics, indications, diagnosis, treatments, and complications were collected.

Results: Seventy-five ERCPs were performed in 60 patients. The median age of the patients at the procedure was 13.9 years (range: 1.2-17.9). Of the 60 patients, 47 (78.3%) were girls. Of all ERCPs, 48 (64.0%) were performed in patients above 10 years and 35 (72.9%) of them were in girls. ERCP was indicated for patients with bile duct obstruction (49.3%), sclerosing cholangitis (18.7%), post-surgery complication (12%), biliary stent (10.7%), choledochal cyst (5.3%), and pancreatitis (4%). The complication rate of ERCP was 9.7% involving mild bleeding, pancreatitis and cholangitis. Patients who had therapeutic procedures were older (13.7±3.9 vs. 9.9±4.9 years; P=0.001) and had more extrahepatic biliary abnormalities (82% vs. 50%; P=0.015) than those who had diagnostic ERCPs. A marked change in the indications of ERCPs was found, i.e., from 2001 to 2004, indications were more diagnostic and from 2005 therapeutic procedures were predominant.

Conclusions: Diagnostic ERCPs are being replaced by magnetic resonance cholangiopancreatography and also by endoscopic ultrasound. All these procedures are complementary and ERCP still has a role for therapeutic purposes.

World J Pediatr 2015;11(2):154-159

Key words: adolescents;

cholangiopancreatography;

endoscopic retrograde

Newborn screening for galactosemia: a 30-year single center experience

Francesco Porta, Severo Pagliardini, Veronica Pagliardini, Alberto Ponzone, Marco Spada

Author Affiliations: Department of Pediatrics, University of Torino, Torino, Italy (Porta F, Pagliardini S, Pagliardini V, Ponzone A, Spada M)

Corresponding Author: Francesco Porta, MD, Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Torino, Italy (Tel: +39-011-6637777; Fax: +39-011-3135382; Email: porta.franc@gmail.com)

doi: 10.1007/s12519-015-0017-3

Background: Galactosemia due to complete or near-complete galactose-1-phosphate uridyltransferase (GALT) deficiency was the first disorder added to the pioneering newborn screening panel besides phenylketonuria. In the last 50 years, many criticisms have been focused on the opportunity of its inclusion. Consequently, long-term single center experiences with this issue are generally lacking.

Methods: We reviewed the outcome of newborn screening for hypergalactosemia performed at our department since 1982 and the correspondent long-term clinical outcome.

Results: Among 1 123 909 newborns screened for hypergalactosemia, 33 showed abnormal results confirmed at second tier test. Thirteen patients were affected with classic galactosemia, 8 partial GALT deficiency, 3 severe galactokinase deficiency, 7 transient galactosemia, one congenital porto-systemic shunt, and one glucose transporter 2 deficiency. Acute neonatal liver failure in the late first week of life (5.8±1.1 days) unavoidably complicated the clinical course of classic galactosemia, unless in three second-born siblings treated on the basis of presumptive diagnosis immediately after newborn screening sample collection on day 3. Despite early treatment and long-term steadily normal peripheral blood galactose, 77% of patients with severe GALT deficiency present mild to severe intellectual disabilities. All patients with partial GALT deficiency showed normal intellectual development on a regular diet, as well as patients with galactokinase deficiency under treatment.

Conclusions: Availability of screening results within the fifth day after birth would allow the prevention of acute decompensation in classic galactosemia. A systematic diagnostic work-up in all positive newborns is essential to unravel the etiology of hypergalactosemia.

World J Pediatr 2015;11(2):160-164

Key words: galactose;

mental retardation;

newborn screening

Effect of ischemic postconditioning on cerebral edema and the AQP4 expression following hypoxic-eschemic brain damage in neonatal rats

Ling Yu, Shu-Juan Fan, Li Liu, Mi Xiao, Xiao-Jie Lin, Yong Liu, Hai-Xia Lv, Xin-Lin Chen, Jian-Xin Liu

Author Affiliations: Department of Neonatology, First Affiliated Hospital, Xi'an Jiaotong University School of Medicine, Xi'an, China (Yu L, Fan SJ, Liu L, Xiao M, Lin XJ); Institute of Neurobiology of Xi'an Jiaotong University School of Medicine, Xi'an, China (Liu Y, Lv HX, Chen XL, Liu JX); Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, China (Yu L)

Corresponding Author: Li Liu, MD, PhD, Department of Neonatology, First Affiliated Hospital, Xi'an Jiaotong University School of Medicine, Xi'an 710061, China (Tel: 86-29-85323829; Email: Liuli918@163.com)

doi: 10.1007/s12519-014-0519-4

Background: A rat model for neonatal hypoxic-ischemic brain damage (HIBD) was established to observe the effect of ischemic postconditioning (IPostC) on cerebral edema and the AQP4 expression following HIBD and to verify the neuroprotection of IPostC and the relationship between changes of AQP4 expression and cerebral edema.

Methods: Water content was measured with dry-wet method, and AQP4 transcription and the protein expression of the lesions were detected with real-time PCR and immunohistochemistry staining, respectively.

Results: Within 6-48 hours, the degree of ipsilateral cerebral edema was significantly lower in IPostC-15 s/15 s group than in HIBD group. Similar to the HIBD group, the AQP4 transcription and expression in the IPostC group showed a downward and then upward trend. But the expression was still more evident in the HIBD group than in the IPostC-15 s/15 s group. From 24 to 48 hours, IPostC-15 s/15 s decreased the slowing down expression of AQP4 .

Conclusion: IPostC has neuroprotective effect on neonatal rats with HIBD and it may relieve cerebral edema by regulating the expression of AQP4.

World J Pediatr 2015;11(2):165-170

Key words: AQP4;

hypoxic-ischemic brain injury;

ischemic postconditioning;

High shear stress-induced pulmonary hypertension alleviated by endothelial progenitor cells independent of autophagy

Bi-Jun Xu, Jian Chen, Xi Chen, Xi-Wang Liu, Shu Fang, Qiang Shu, Lei Hu, Shan-Shan Shi, Li-Zhong Du, Lin-Hua Tan

Author Affiliations: Department of Cardiothoracic Surgery, Children's Hospital, Zhejiang University School of Medicine, 3333 Binsheng Road, Hangzhou 310051, China (Xu BJ, Liu XW, Fang S, Shu Q); Department of Cardiothoracic Surgery, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou 310016, China (Xu BJ); The First Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou 310006, China (Chen J); Central Laboratory, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310051, China (Chen X); Department of SICU, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310051, China (Hu L, Shi SS, Du LZ, Tan LH)

Corresponding Author: Lin-Hua Tan, MD, PhD, Department of SICU, Children's Hospital, Zhejiang University School of Medicine, 3333 Binsheng Road, Hangzhou 310051, China (Tel: 86-571-86670600; Fax: 86-571-86670600; Email: chtlh@zju.edu.cn)

doi: 10.1007/s12519-015-0008-4

Background: Pulmonary hypertension (PH) is a progressive disease characterized by lung endothelial cell dysfunction and vascular remodeling. Endothelial progenitor cells (EPCs) have been proved to be a potential therapeutic strategy to treat PH. Autophagy has been found to be protective to hypoxia-induced PH. In this study, we applied high shear stress (HSS)-induced PH, and examined whether EPCs confer resistance against HSS-induced PH through autophagy.

Methods: Pulmonary microvascular endothelial cells (PMVECs) were cultured under HSS with pro-inflammatory factors in an artificial capillary system to mimic the PH condition. Levels of p62, a selective autophagy substrate, were quantified by western blotting. Cell viability was determined by trypan blue exclusion test.

Results: The p62 level in PMVECs was increased at 4 hours after HSS, peaked at 12 hours and declined at 24 hours. The cell viability gradually decreased. Compared with PMVECs cultured by empty medium, in cells cultured by EPC-conditioned medium (EPC-CM), the cell viability was significantly higher; however, p62 levels were also significantly higher, suggesting inhibition of autophagy by EPC-CM. Adding choloquine to suppress autophagy decreased the cell viability of PMVECs under PH.

Conclusions: EPC-CM could suppress the autophagic activity of PMVECs in HSS-induced PH. However, suppression of autophagy leads to cell death. EPCs could fight against PH through cellular or molecular pathways independent of autophagy. But it is not proved if induction of autophagy could be a potential strategy to treat HSS-induced PH as hypoxia-induced PH.

World J Pediatr 2015;11(2):171-176

Key words: autophagy;

endothelial progenitor cells;

pulmonary hypertension

Reconstruction of a new pulmonary artery in arterial switch operation

Bai-Ping Sun, Shu Fang, Ze-Wei Zhang, Fang-Xia Chen, Jian-Hua Li, Ru Lin, Qiang Shu, Jian-Gen Yu

Author Affiliations: Department of Thoracic and Cardiovascular Surgery, Children's Hospital of Zhejiang University School of Medicine, 57 Zhugan Xiang, Hangzhou 310003, China (Sun BP, Fang S, Zhang ZW, Chen FX, Li JH, Lin R, Shu Q, Yu JG)

Corresponding Author: Jian-Gen Yu, Department of Thoracic and Cardiovascular Surgery, Children's Hospital, Zhejiang University School of Medicine, 57 Zhugan Xiang, Hangzhou 310003, China (Tel: 86-0571-87061007 ext 60611; Fax: 86-0571-87033296; Email: yujiangen@hotmail.com)

doi: 10.1007/s12519-014-0473-1

Background: This study was undertaken to evaluate the new method for the reconstruction of the pulmonary artery in arterial switch operation (ASO).

Methods: A total of 108 consecutive infants with congenital heart disease were treated with ASO in our department between January 2004 and June 2012. The new pulmonary arterial root was reconstructed with a fresh autologuos pericardium which was clipped pants-like with continuous mattress suture of 6-0 Prolene thread. Patients were reexamined consecutively at 3 and 6 months and 1, 2 and 6 years after discharge. The pulmonary arterial blood velocity was measured by continuous Doppler during systole. The pulmonary flow of healthy children of same age was also measured in the control group. Simplified Bernoulli formula was used to calculate the pressure gradient via the pulmonary artery for determining whether there was pulmonary stenosis.

Results: In this series, 96 infants survived after the surgery and 88 were followed up with a mean peirod of (22±4) months. No pulmonary stenosis was detected with the simplified Bernoulli formula.

Conclusion: No pulmonary stenosis was detected with the simplified Bernoulli formula.

World J Pediatr 2015;11(2):177-180

Key words: arterial switch operation;

fresh autologuos pericardium;

pulmonary arterial reconstruction

Intrapulmonary lipoma: a case report and literature review

Chun-Mei Zhu, Li Chang, Xiu-Shan Ge, Xin-Yu Yuan, Ling Cao

Author Affiliations: Respirology Department (Zhu CM, Chang L, Ge XS, Cao L) and Radiology Department, Children's Hospital of Capital Institute of Pediatrics, Beijing, China (Yuan XY)

Corresponding Author: Ling Cao, MD, Respirology Department, Children's Hospital of Capital Institute of Pediatrics, Beijing, China (Tel: +86 10 85695629; Fax: +86 10 85628367; Email: Caoling9919@163.com)

doi: 10.1007/s12519-015-0011-9

Background: Intrapulmonary lipoma is extemely rare in children. So far, all reported pulmonary lipomas were from adult patients.

Methods: We present herein a case of intrapulmonary lipoma in a child and a review of the related literature.

Results: A 13-month-old boy was hospitalized because of cough and fever. Chest CT showed patchy infiltration and round-shape, hypodense homogeneous lesions located in the lung. After 19 days of antibiotic treatment, his clinic symptoms disappeared, but the round lesions remained without any change. One month and one year later, he was examined by chest MRI with technique of fat suppression. The child was diagnosed as having an intrapulmonary lipoma without biopsy.

Conclusions: Intrapulmonary lipoma is rare in children. Chest CT and MRI are very important for the correct diagnosis of intrapulmonary lipoma.

World J Pediatr 2015;11(2):185-187

Key words: chest imaging;

intrapulmonary lipoma

A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria

Yoshihiro Maruo, Masafumi Suzaki, Katsuyuki Matsui, Yu Mimura, Asami Mori, Haruo Shintaku, Yoshihiro Takeuchi

Author Affiliations: Department of Pediatrics (Maruo Y, Matsui K, Mimura Y, Mori A, Takeuchi Y) and Central Research Laboratory (Suzaki M), Shiga University of Medical Science, Tsukinowa, Seta, Otsu, Shiga 520-2192, Japan; Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka, Japan (Shintaku H)

Corresponding Author: Yoshihiro Maruo, MD, PhD, Department of Pediatrics, Shiga University of Medical Science, Tsukinowa, Seta, Otsu, Shiga 520-2192, Japan (Tel: +81-77-548-2228; Fax: +81-77-548-2230; Email: maruo@belle.shiga-med.ac.jp)

doi: 10.1007/s12519-015-0020-8

Background: Phenylketonuria (PKU) is caused by a defect in phenylalanine hydroxylase (PAH). More than 500 mutations have been reported for the gene encoding PAH. However, approximately 1%–5% of these include large deletions and large duplications that cannot be detected by conventional methods.

Methods: In this report we tried to fully characterize a PAH-deficient patient. The patient was a 2-year-old Japanese boy who was diagnosed with classical PKU at the time of neonatal screening, which was confirmed by the tetrahydrobiopterin-loading test. PCR-related direct sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to analyze of the PAH of the patient.

Results: Using PCR-related direct sequencing method, we could detect only a heterozygous novel missense mutation: p.136G>C (p.G46R). A second mutation was detected by MLPA. The patient was heterozygous for a novel large deletion of exons 12 and 13: c.1200-?_1359+?del (EX12_13del). For genetic counseling, an accurate genetic diagnosis is often necessary.

Conclusions: Through a combination of MLPA and conventional methods, the success rate of PAH mutation identification can be close to 100%.

World J Pediatr 2015;11(2):181-184

Key words: large deletion;

multiplex ligation-dependent probe

phenylalanine hydroxylase;