Health implications of engineered nanoparticles in infants and children

Song Tang, Mao Wang, Kaylyn E Germ, Hua-Mao Du, Wen-Jie Sun, Wei-Min Gao,

Gregory D Mayer

Lubbock, USA

Author Affiliations: The Institute of Environmental and Human Health, Texas Tech University, Lubbock, Texas 79416, USA (Tang S, Germ KE, Gao WM, Mayer GD); School of Environment and Sustainability, University of Saskatchewan, Saskatoon, Saskatchewan S7N 5B3, Canada (Tang S); Department of Preventive Medicine, School of Public Health, Sun Yat-sen University, Guangzhou 510080, China (Wang M); College of Biotechnology, Southwest University, Beibei, Chongqing 400715, China (Du HM); School of Food Science, Guangdong Pharmaceutical University, Zhongshan 528458, China (Sun WJ); Department of Global Health and Environmental Sciences, School of Public Health and Tropical Medicine, Tulane University, New Orleans, Louisiana 70112, USA (Sun WJ)

Corresponding Author: Wen-Jie Sun, MD, School of Food Science, Guangdong Pharmaceutical University, Zhongshan 528458, China; Department of Global Health and Environmental Sciences, School of Public Health and Tropical Medicine, Tulane University, 1440 Canal Street, Suite 2100, New Orleans, Louisiana 70112, USA (Tel: 504-988-4223, Email: wsun3@tulane.edu)

doi: 10.1007/s12519-015-0028-0

Background: The nanotechnology boom and the ability to manufacture novel nanomaterials have led to increased production and use of engineered nanoparticles (ENPs). However, the increased use of various ENPs inevitably results in their release in or the contamination of the environment, which poses significant threats to human health. In recent years, extraordinary economic and societal benefits of nanoproducts as well as their potential risks have been observed and widely debated. To estimate whether ENPs are safe from the onset of their manufacturing to their disposal, evaluation of the toxicological effects of ENPs on human exposure, especially on more sensitive and vulnerable sectors of the population (infants and children) is essential.

Data sources: Papers were obtained from PubMed, Web of Science, and Google Scholar. Literature search words included: "nanoparticles", "infants", "children", "exposure", "toxicity", and all relevant cross-references.

Results: A brief overview was conducted to 1) characterize potential exposure routes of ENPs for infants and children; 2) describe the vulnerability and particular needs of infants and children about ENPs exposure; 3) investigate the current knowledge about the potential health hazards of ENPs; and 4) provide suggestions for future research and regulations in ENP applications.

Conclusions: As the manufacturing and use of ENPs become more widespread, directed and focused studies are necessary to measure actual exposure levels and to determine adverse health consequences in infants and children.

                                                                                             World J Pediatr 2015;11(3):197-206

Key words: developmental effects; human exposure; maternal-fetal transmission; nanopediatrics; nanotoxicity

Pancreatic involvement in pediatric infl ammatory bowel diseases

Sabrina Cardile, Antonino Randazzo, Simona Valenti, Claudio Romano

Messina, Italy

Author Affiliations: Department of Pediatrics, IBD Unit, University of Messina Via Consolare Valeria, Messina 98125, Italy (Cardile S, Randazzo A, Valenti S, Romano C)

Corresponding Author: Claudio Romano, Pediatrics Department, IBD Unit, University of Messina, Via Consolare Valeria, Messina 98125, Italy (Tel: 390902212918, 390902212919; Fax: 390902213788; Email: romanoc@unime.it)

doi: 10.1007/s12519-015-0029-z

Background: Infl ammatory bowel diseases (IBDs) are a group of chronic diseases affecting the gastrointestinal tract, with a disabling course. The incidence of IBDs is increasing in different geographical areas, indicating its emergence as a global disease, especially in children. Many patients with IBDs develop extraintestinal manifestations (EIMs) during follow-up, as IBDs have a potential risk of systemic involvement..

Data sources: A systematic review of the literature was made to analyze latest studies on pancreatic involvement in children with IBD including our experience in assessing possible implications and its future application.

Results: The involvement of the hepatobiliary system is considered a rare EIM of children with IBD, with an incidence much higher than that in the general population. Isolated pancreatic hyperenzymemia, which occurs in the absence of typical symptoms and/or characteristic imaging findings, may be found in many patients with IBD. The frequent causes of pancreatitis are drugs, bilio-pancreatic disorders, immunologic disturbances and pancreatic auto-antibodies, although in some cases idiopathic forms have been described.

Conclusions: It is important to establish a correct diagnostic approach based on etiology and to assess the most appropriate therapeutic strategy, thus avoiding complications and improving the quality of life of children with IBD.

                                                                                                  World J Pediatr 2015;11(3):207-211

Key words: Crohn's disease; extraintestinal manifestations; inflammatory bowel diseases;  pancreatitis; ulcerative colitis

Weaning preterm infants from continuous positive airway pressure: evidence for best practice

Hesham Abdel-Hady, Basma Shouman, Nehad Nasef

Mansoura, Egypt

Author Affiliations: Neonatal Intensive Care Unit, Mansoura University Children's Hospital, Mansoura, Egypt (Abdel-Hady H, Shouman B, Nasef N)

Corresponding Author: Hesham Abdel-Hady, Mansoura University Children's Hospital, Gomhoria Street, Mansoura 35516, Egypt (Tel: +20 1114328500; Email: hehady@yahoo.com)

doi: 10.1007/s12519-015-0022-6

Online First April 2015.

Background: Nasal continuous positive airway pressure (NCPAP) is frequently used in preterm infants. However, there is no consensus on when and how to wean them from NCPAP.

Data sources: Based on recent publications, we have reviewed the criteria of readiness-to-wean and factors affecting weaning success. A special focus is placed on the methods of weaning from NCPAP in preterm infants.

Results: Practical points of when and how to wean from NCPAP in preterm infants are explained. Preterm infants are ready to be weaned from NCPAP when they are stable on a low NCPAP pressure with no (or minimal) oxygen requirement. Methods used to wean from NCPAP include: sudden weaning of NCPAP, gradual decrease of NCPAP pressure, graded-time­off NCPAP (cycling), weaning to high or low flow nasal cannula, and a combination of these methods. The best strategy for weaning is yet to be determined. Cycling-off NCPAP increases the duration of NCPAP and length of hospital stay without beneficial effect on success of weaning. Gradual decrease of NCPAP pressure is more physiological and better tolerated than cycling-off NCPAP.

Conclusion: Further studies are needed to reach a consensus regarding the optimal timing and the best method for weaning from NCPAP in preterm infants.

                                                                                                  World J Pediatr 2015;11(3):212-218

Key words: continuous positive airway pressure;     preterm infant;     weaning

Guang-Qiao Zeng, Jia-Ying Luo, Hui-Min Huang, Pei-Yan Zheng, Wen-Ting Luo, Ni-Li

Wei, Bao-Qing Sun

Guangzhou, China

Author Affiliations: State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Diseases, Guangzhou Institute of Respiratory Diseases, First Affiliated Hospital, Guangzhou Medical University, Guangzhou, China (Zeng GQ, Luo JY, Huang HM, Zheng PY, Luo WT, Wei NL, Sun BQ)

Corresponding Author: Sun Bao-Qing, MD, State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Diseases Guangzhou Institute of Respiratory Diseases, First Affiliated Hospital, Guangzhou Medical University, 151 Yanjiang Road, Guangzhou 510120, China (Tel: +86-20-8306-2865; Fax: +86-20-8306-2729; Email: sunbaoqing@vip.163.com)

doi: 10.1007/s12519-015-0030-6

Background: Although the number of studies on allergic diseases in the general population of southern China is increasing, only a few have addressed food allergy (FA) in children in this region. The present study aimed to investigate the prevalence, clinical manifestations, spectrum of allergens, and related risk factors of FA in preschool children in Guangdong Province, southern China.

Methods: A random cluster-sampling method was used to select 24 kindergartens from 12 cities in Guangdong Province. The parents or guardians of the children were requested to complete a questionnaire on general information and data regarding FA diagnosis and symptoms in the children and their first-degree relatives. Thereafter, the Chi-square test, multivariate regression analysis, and Spearman's rank-order correlation coefficient analysis were performed to identify statistically signifi cant differences.

Results: Analysis of 2540 valid questionnaires revealed an FA prevalence rate of 4%. Adverse food reactions were due to the consumption of shrimp (4.4%), crab (3.2%), mango (2.3%), cow's milk and dairy products (1.9%), and eggs (1.4%). Logistic regression analysis indicated that a history of FA and a history of allergic rhinitis in the first-degree relatives were the major factors leading to FA in children.

Conclusions: The incidence of FA in children in Guangdong Province is higher than that commonly believed. An individual's genetic background is an important risk factor for FA. Hence, mitigation of the impact of lifestyle and environmental factors should be carefully considered to reduce the incidence of childhood FA.

                                                                                                  World J Pediatr 2015;11(3):219-225

Key words: allergic rhinitis; eczema; epidemiology; food allergy; questionnaire

Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Joachim Cieślik, Anna Tylki- Szymańska

Warsaw, Poland

Author Affiliations: Anthropology Laboratory, the Children's Memorial Health Institute, Warsaw, Poland (Różdżyńska-Świątkowska A); Department of Genetics, University of Gdańsk, Gdańsk, Poland (Jurecka A, Tylki- Szymańska A); Department of Medical Genetics, the Children's Memorial Health Institute, Warsaw, Poland (Jurecka A); Department of Human Biological Development, Institute of Anthropology, Faculty of Biology, Adam Mickiewicz University, Poznań, Poland (Cieślik J); Department of Metabolic Diseases, the Children's Memorial Health Institute, Warsaw, Poland (Tylki-Szymańska A)

Corresponding Author: Różdżyńska-Świątkowska A, PhD, the Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04-730 Warsaw, Poland (Tel: +48 22 815 1049; Email: agnieszka.rozdzynska@gmail.com/ ajurecka@gmail.com)

doi: 10.1007/s12519-014-0517-6

Online First November 2014.

Background: Mucopolysaccharidosis (MPS) diseases lead to a profound disruption in normal mechanisms of growth and development. This study was undertaken to determine the general growth of children with MPS I and II.

Methods: The anthropometric data of patients with MPS I and II (n=76) were retrospectively analyzed. The growth patterns of these patients were analyzed and then plotted onto Polish reference charts. Longitudinal analyses were performed to estimate age-related changes.

Results: At the time of birth, the body length was greater than reference charts for all MPS groups (Hurler syndrome, P=0.006; attenuated MPS II, P=0.011; severe MPS II, P<0.001). The mean z-score values for every MPS group showed that until the 30th month of life, the growth patterns for all patients were similar. Afterwards, these growth patterns start to differ for individual groups. The body height below the 3rd percentile was achieved around the 30th month for boys with Hurler syndrome, between the 4th and 5th year for patients with severe MPS II and between the 7th and 8th year for patients with attenuated MPS II.

Conclusions: The growth pattern differs between patients with MPS I and II. It reflects the clinical severity of MPS and may assist in the evaluation of clinical effi cacy of available therapies.

                                                                                                       World J Pediatr 2015;11(3):226-231

     Key words: anthropometric features; longitudinal study; mucopolysaccharidosis I; mucopolysaccharidosis II

Li Tang, Andy H Lee, Colin W Binns

Perth, Australia

Author Affiliations: School of Public Health, Curtin University, Perth, Australia (Tang L, Lee AH, Binns CW)

Corresponding Author: Li Tang, School of Public Health, Curtin University, GPO Box U 1987, Perth, WA, Australia, 6845 (Tel: +61-8-92664180; Fax: +61-8-92662958; Email: Li.Tang@curtin.edu.au)

doi: 10.1007/s12519-014-0520-y

Online First November 2014.

Background: The World Health Organization (WHO) recommends exclusive breastfeeding for 6 months and continued breastfeeding thereafter with appropriate complementary foods for at least 2 years or longer. This study aimed to determine the factors associated with breastfeeding duration in Sichuan Province of China.

Methods: A prospective longitudinal study of 695 women, with a follow-up response rate of 71.9%, was conducted in Jiangyou, Sichuan Province in the period of 2010-2011. Participants were interviewed at discharge and followed up by telephone at 1, 3, 6 and 12 months postpartum. Breastfeeding duration was estimated by the Kaplan-Meier method. Cox regression analyses were performed to identify factors associated with the breastfeeding duration.

Results: The median duration of "any breastfeeding" was 8.0 [95% confidence interval (CI): 7.8, 8.2] months. Maternal age less than 25 years [adjusted hazard ratio (HR): 1.61; 95% CI: 1.32, 1.96] and maternal return to work before 6 months postpartum (adjusted HR: 1.69; 95% CI: 1.32, 2.17) were associated with a shorter duration of breastfeeding. Women who delivered at hospital (adjusted HR: 1.33; 95% CI: 1.05, 1.67), introduced solid foods (adjusted HR: 1.30; 95% CI: 1.02, 1.64) and intended to stop breastfeeding within 6 months, or undecided how long to breastfeed (adjusted HR: 1.41; 95% CI: 1.16, 1.72), were more likely to terminate lactation within 1 year.

Conclusions: The duration of breastfeeding in Jiangyou was far below the recommendation of the WHO. Education programs targeting vulnerable subgroups of mothers should be provided in Sichuan to help them maintain breastfeeding as long as possible.

                                                                                                  World J Pediatr 2015;11(3):232-238

Key words: breastfeeding; cohort study; solid foods; working mother 

Hui Li, Ying Liu, Jing Chen, Xia Tan, Xiu-Yun Ye, Ming-Sheng Ma, Jian-Ping Huang,

Li-Ping Zou

Beijing, China

Author Affiliations: Department of Pediatrics, Chinese PLA General Hospital, Beijing 100583, China (Li H, Liu Y, Zou LP); Department of Pediatrics, Xin Hua Hospital and Shanghai Children's Medical Center, Shanghai Second Medical University, Shanghai 200127, China (Chen J, Tan X); Department of Radiology, The Yuying Children Hospital Affiliated Wenzhou Medical University, Wenzhou 325027, China (Ye XY); Department of Pediatrics, Peking Union Medical College Hospital, Beijing 1007320, China (Ma MS); Department of Nephrology and Rheumatology, Bayi Children's Hospital Affiliated to Beijing Military Region General Hospital, Beijing 100700, China (Huang JP)

Corresponding Author: Li-Ping Zou, Department of Pediatrics, Chinese PLA General Hospital, Center of Epilepsy, Beijing Institute for Brain Disorders, Beijing 100853, China (Tel: +86-10-55499016; Fax: +86-10­66939770; Email: zouliping21@hotmail.com); Jing Chen, Department of Pediatrics, Xin Hua Hospital and Shanghai Children's Medical Center, Shanghai Second Medical University, Shanghai 200127, China (Tel: +86­21-38626161 ext. 82073; Fax: +86-21-38626296; Email: chenjingscmc@ hotmail.com)

doi: 10.1007/s12519-015-0027-1

Online First June 2015.

Background: This study aimed to evaluate the clinical features of posterior reversible encephalopathy syndrome (PRES) in children.

Methods: The medical records of 31 patients from five medical centers who were diagnosed with PRES from 2001 to 2013 were retrospectively analyzed. In the 31 patients, 16 were males, and 15 females, with a median age of 7 years (3-12 years). Patients younger than 10 years accounted for 74.2% of the 31 patients.

Results: Seizure, the most common clinical sign, occurred in 29 of the 31 patients. Visual disturbances were also observed in 20 patients. Cerebral imaging abnormalities were bilateral and predominant in the parietal and occipital white matter. In this series, three patients died in the acute phase of PRES. One patient had resolution of neurologic presentation within one week, but no apparent improvement in radiological abnormalities was observed at eight months. One patient showed gradual recovery of both neurologic presentation and radiological abnormalities during follow-up at eight months. One patient developed long-term cortical blindness. All of the PRES patients with hematologic tumor had a worse prognosis than those without hematologic tumor.

Conclusions: Seizure is a prevalent characteristic of children with PRES. Poor prognosis can be seen in PRES patients with hematologic tumor.

                                                                                                  World J Pediatr 2015;11(3):245-249

Key words: adverse outcomes; posterior reversible encephalopathy syndrome; seizure;

     tumors 

Mohammad Aghazadeh, Reza Ghotaslou, Mohammad Ahangarzadeh Rezaee, Mohammad Hassan Moshafi, Zoya Hojabri, Fereshteh Saffari

Tabriz, Iran

Author Affiliations: Tabriz Research Center of Infectious and Tropical Diseases, Tabriz University of Medical Sciences, Tabriz, Iran (Aghazadeh M, Ghotaslou R, Ahangarzadeh Rezaee M, Saffari F); Department of Pharmaceutical Science, Faculty of Pharmacy, Kerman University of Medical Sciences, Kerman, Iran (Moshafi MH); Department of Microbiology, School of Medicine, Semnan University of Medical Sciences, Semnan, Iran (Hojabri Z)

Corresponding Author: Fereshteh Saffari, Tabriz Research Center of Infectious and Tropical Diseases, Tabriz University of Medical Sciences, Tabriz, Iran (Tel: + 98 411 3364661; Fax: + 98 411 3364661; Email: fereshtesaffari@yahoo.com)

doi: 10.1007/s12519-014-0524-7

Online First November 2014.

Background: Currently, coagulase negative staphylococci (CoNS) have got much attention as a serious health problem especially in neonates and children. High incidence of antibiotic resistance, in particular methicillin resistance, has complicated the treatment of these organisms. The aim of this study is to determine the susceptibility to different antimicrobial agents and the prevalence of macrolides­lincosamides-streptogramins B (MLSB) resistance in CoNS isolates obtained from pediatric patients.

Methods: Totally 157 CoNS isolates from various clinical samples were examined for antibiotic resistance using disk diffusion and E-test methods. Double-disk test was applied to detect constitutive and inducible MLSB resistance (cMLSB and iMLSB) phenotypes.

Results: Resistance to methicillin was seen in 98 (62.4%) isolates. All isolates were susceptible to vancomycin and linezolid. The prevalence of resistance to antibiotics tested was as follows: fusidic acid (n=58, 36.9%), gentamicin (n=73, 46.5%), ciprofloxacin (n=81, 51.6%), clindamycin (n=112, 71.3%), erythromycin (n=129, 82.2%) and trimethoprim/sulfamethoxazole (n=133, 84.7%). iMLSB phenotype was seen in 14 (8.9%) isolates, and 18 (11.5%) and 98 (62.4%) isolates showed MS and cMLSB phenotypes, respectively. We observed that high overall antibiotic resistance rates were associated significantly with methicillin resistance. Conversely, iMLSB phenotype was correlated neither with methicillin resistance nor with invasiveness.

Conclusion: Given the similarity observed between the prevalence of iMLSB and MS phenotypes, the performance of disk diffusion induction test is strongly recommended in our region.

                                                                                                  World J Pediatr 2015;11(3):250-254

Key words: antibiotic susceptibility; coagulase negative staphylococci; inducible resistance; pediatrics

Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease

Zhe-Feng Yuan, Wei Wu, Yong-Lin Yu, Jue Shen, Shan-Shan Mao, Feng Gao, Zhe-Zhi Xia

Hangzhou, China

Author Affiliations: Department of Neurology (Yuan ZF, Yu YL, Shen J, Mao SS, Gao F, Xia ZZ), Department of Endocrinology (Wu W), Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China

Corresponding Author: Yong-Lin Yu, Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, 57 Zhugan Xiang, Hangzhou 310003, China (Tel: +86-571-88873682; Fax: +86-571­87074655; Email: yuyonglin1998@163.com)

doi: 10.1007/s12519-015-0031-5

Background: Wilson's disease (WD) is an autosomal recessive genetic disorder of copper metabolism, caused by mutations in the ATP7B gene, resulting in copper accumulation in the liver, brain, kidney, and cornea and leading to significant disability or death if untreated. Early diagnosis and proper therapy usually predict a good prognosis, especially in pre-symptomatic WD. Genetic testing is the most accurate and effective diagnostic method for early diagnosis.

Methods: The clinical and biochemical features of three unrelated Han Chinese families with pre-symptomatic WD were reported. The molecular defects in these families were investigated by polymerase chain reaction and DNA sequencing. Hundred healthy children with the same ethnic background served as controls. Bioinformatic tools (polymorphism phenotyping-2, sorting intolerant from tolerant, protein analysis through evolutionary relationships, and predictor of human deleterious single nucleotide polymorphisms) were combined and used to predict the functional effects of mutations.

Results: We identified 2 novel ATP7B mutations (p.Leu692Pro and p.Asn728Ser) and 3 known mutations (p.Met769fs, p.Arg778Leu and p.Val1216Met) in these Chinese WD families. These mutations were not observed in the 100 normal controls. The bioinformatic method showed that p.Leu692Pro and p.Asn728Ser mutations are pathogenic.

Conclusions: Our research enriches the mutation spectrum of the ATP7B gene worldwide and provides valuable information for studying the mutation types and mode of inheritance of ATP7B in the Chinese population. Liver function analysis and genetic testing in young children with WD are necessary to shorten the time to the initiation of therapy, reduce damage to the liver and brain, and improve prognosis.

                                                                                                  World J Pediatr 2015;11(3):255-260

Key words: ATP7B; Chinese; mutation; Wilson's disease

Veerajalandhar Allareddy, Ingrid M Anderson, Min Kyeong Lee, Veerasathpurush Allareddy, Sankeerth Rampa, Romesh P Nalliah

Boston, MA, USA

Author Affiliations: Department of Pediatric Critical Care and Pharmacology, Rainbow Babies and Children's Hospital, University Hospitals, Case Medical Center (Allareddy V, Anderson IM); Department of Developmental Biology, Harvard School of Dental Medicine, Boston, MA (Lee MK); Boston Children's Hospital, Boston, MA (Allareddy V); Nance College of Business Administration, Cleveland State University, Cleveland, Ohio (Rampa S); Office of Dental Education, Harvard School of Dental Medicine, Boston, MA, United States (Nalliah RP)

Corresponding Author: Romesh P Nalliah, BDS, Senior Tutor, Offi ce of Dental Education, Harvard School of Dental Medicine, Boston, MA, United States (Tel: 617-817-2301; Email: Romesh_nalliah@hsdm.harvard.edu)

doi: 10.1007/s12519-014-0521-x

Online First November 2014.

Background: The purpose of this study is to provide nationally representative estimates of children visiting hospital-based emergency departments (ED) for motor vechicle traffic accidents (MVTA) in the United States during the year of 2008.

Methods: Nationwide Emergency Department Sample for 2008 was used. All pediatric (age ≤18 years) ED visits with external cause for injury ICD-9-diagnostic codes for MVTA were selected. Outcomes examined included discharge status following ED visit and presence of concomitant injuries. Descriptive statistics was used to summarize the estimates.

Results: Totally 604 027 hospital-based ED visits occurred in the United States among children (age ≤18 years) due to MVTA. Following an ED visit, 91% were discharged routinely, while 6% were admitted as inpatients into the same hospital. A total of 928 children died in the ED. A total of 34 004 ED visits required inpatient admission into the same hospital and 768 patients died during hospitalization. Mean charge per ED visit was $1887 and total ED charges across the United States were close to $970 million. Among those admitted into the same hospital following ED visit (n=34 004), the mean hospitalization charge was $53 726 and total hospitalization charge across the entire United States were $1.8 billion.

Conclusions: Study findings illustrate the burden associated with pediatric ED visits due to MVTA. Close to $970 million of hospital charges were incurred by children who made an ED visit due to a MVTA during 2008 and about $1.8 billion was incurred among those hospitalized following an ED visit.

                                                                                                  World J Pediatr 2015;11(3):261-266

Key words: emergency; hospital; traffic accidents

Partial gastric pull-up in the treatment of patients with long-gap esophageal atresia

Marc Reismann, Tina Granholm, Henrik Ehrén

Stockholm, Sweden

Author Affiliations: Department of Pediatric Surgery and Urology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden (Reismann M, Granholm T, Ehrén H)

Corresponding Author: Marc Reismann, Department of Pediatric Surgery and Urology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Karolinskavägen, 17176 Stockholm, Sweden (Email: marc.reismann@gmx.de)

doi: 10.1007/s12519-014-0523-8 Online First November 2014.

Background: This study was to analyze outcomes of long-gap esophageal atresia (LGEA) treated with partial gastric pull-up (PGP) into the thorax.

Methods: The medical records of all children who had undergone PGP for LGEA from 1999 to 2012 were reviewed. Preoperative data, initial postoperative course, complications, time to full oral nutrition, follow-up diagnostics and nutritional status were assessed.

Results: Nine children who had undergone PGP were followed up for a mean period of 6.2±3.1 years. Their median gestational age was 37+2 weeks, and mean birth weight 2462±658 g. Eight children were primarily treated with a gastrostomy, their mean age at PGP was 11.4±10.9 weeks and mean weight was 4484±1966 g. Their mean operation time was 199±51 minutes. Leakage was an early postoperative complication in three children, one of whom had a consecutive stricture resection. Late complications were stenosis (n=7) and gastro-esophageal refl ux (n=5). The general status of the children was judged as "good" or "very good" on the last presentation. The median percentile of the body-mass-index was 25. Gastroscopy at 3.7±3.2 years after the operation revealed a grade I esophagitis in two children. There was no death in this group of children.

Conclusions: Because of its high complication rate, partial gastric pull-up cannot be recommended as an alternative for the treatment of LGEA at present. A final judgment could be made on the basis of a comparative study.

World J Pediatr 2015;11(3):267-271

Key words: early childhood; esophageal atresia; gastric pull-up

Ernesto Martin-Nuñez, Elizabeth Cordoba-Lanus, Hilaria Gonzalez-Acosta, Aniana Oliet, Elvira Izquierdo, Felix Claverie-Martin

Santa Cruz de Tenerife, Spain

Author Affiliations: Unidad de Investigacion, Hospital Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain (Martin-Nuñez E, Cordoba-Lanus E, Gonzalez-Acosta H, Claverie-Martin F); Servicio de Nefrologia, Hospital Severo Ochoa, Madrid, Spain (Oliet A); Nefrologia Infantil, Hospital General Gregorio Marañon, Madrid, Spain (Izquierdo E)

Corresponding Author: Felix Claverie-Martin, PhD, Unidad de Investigacion, Hospital Nuestra Señora de Candelaria, 38010 Santa Cruz de Tenerife, Spain (Tel: +34 922 600546, Fax: +34 922 600562, Email: fclamar@gobiernodecanarias.org)

doi: 10.1007/s12519-014-0528-3

Online First November 2014.

Background: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubular disease caused by mutations in the CLDN16 or CLDN19 gene. Previous studies using microsatellite markers flanking the CLDN19 locus estimated that p.G20D (c.59G>A), a recurrent mutation in Spanish families, is a founder mutation. In the present study, we assessed the haplotype of Spanish patients using single nucleotide polymorphisms (SNPs).

Methods: Twenty-seven FHHNC patients were included in this study. We analyzed four SNPs located in CLDN19 introns 3 and 4 by polymerase chain reaction amplification and DNA sequencing.

Results: Three new patients with homozygous p.G20D were identified. The SNP genotyping analysis showed that alleles carrying this mutation shared a common SNP haplotype.

Conclusions: Our findings suggest the existence of a founder effect responsible for FHHNC in our cohort. Testing for the presence of mutation p.G20D should be the first genetic screening in Spanish patients.

                                                                                                  World J Pediatr 2015;11(3):272-275

Key words: chronic kidney disease; founder effect; gene mutation; nephrocalcinosis

Qi-Liang Li, Wen-Qi Song, Xiao-Xia Peng, Xiao-Rong Liu, Le-Jian He, Li-Bing Fu

Beijing, China

Author Affiliations: Department of Laboratory Medicine, Beijing Children's Hospital, Capital Medical University, Beijing, China (Li QL, Song WQ); Department of Epidemiology and Biostatistics, School of Public Health and Family Medicine, Capital Medical University, Beijing, China (Peng XX); Department of Nephrology, Beijing Children's Hospital, Capital Medical University, Beijing, China (Liu XR); Department of Pathology, Beijing Children's Hospital, Capital Medical University, Beijing, China (He LJ, Fu LB)

Corresponding Author: Wen-Qi Song, Department of Laboratory Medicine, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China (Tel: +86-10-59616962; Email: songwenqi2005@126.com)

doi: 10.1007/s12519-015-0032-4

Background: The present study was undertaken to investigate the clinical characteristics of hemolytic uremic syndrome (HUS) secondary to cobalamin C disorder (cbl-C disorder).

Methods: We reviewed retrospectively the medical records of 3 children with HUS secondary to cbl-C disorder who had been treated between April 1, 2009 and October 31, 2013.

Results: The 3 patients with HUS secondary to cbl-C disorder presented with progressive hemolytic anemia, acute renal failure, thrombocytopenia, poor feeding, and failure to thrive. Two of the 3 patients once had high blood pressure. The mutations of c.609G>A (p.W203X), c.217C>T (p.R73X) and c.365A>T (p.H122L) in the methylmalonic aciduria (cobalamin deficiency) cbl-C type, with homocystinuria gene were detected in the 3 patients. In these patients the levels of lactate dehydrogenase and homocysteine in serum were elevated and the level of methylmalonic acid (MMA) in urine was also elevated. After treatment with hydroxocobalamin, 2 patients were discharged with no obvious abnormal growth and neurological development and 1 patient died of multiple organ failure.

Conclusions: The results of this study demonstrated that cbl-C disorder should be investigated in any child presenting with HUS. The high concentrations of homocysteine and MMA could be used for timely recognization of the disease. Once the high levels of plasma homocystein and/or plasma or urine MMA are detected, the treatment with parenteral hydroxocobalamin should be prescribed immediately. The early diagnosis and treatment would contribute to the good prognosis of the disease.

                                                                                                  World J Pediatr 2015;11(3):276-280

Key words: children; cobalamin C disorder; hemolytic uremic syndrome 

Hai Xue, Olafur Sveinsson, Yong-Jie Li

Beijing, China

Author Affiliations: Beijing Institute of Functional Neurosurgery, Department of Functional Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China (Xue H, Li YJ); Department of Neurology, Karolinska University Hospital, Stockholm, Sweden (Sveinsson O)

Corresponding Author: Yong-Jie Li, Changchun Street, No 45, Xicheng District, Beijing, China (Tel: +86-10-83198882; Fax: +86-10-83163174; Email: lyj8828@vip.sina.com)

doi: 10.1007/s12519-015-0033-3

Background: Dysembryoplastic neuroepithelial tumors (DNTs) are common causes of intractable epilepsy in pediatric epilepsy patients. The effect of surgical intervention is often limited when the tumor is located in the precentral gyrus. Furthermore, complete surgical resection is often not performed in order to avoid permanent neurological deficits.

Methods: Here, we present a pediatric patient with intractable epilepsy caused by a simple DNT located in the precentral gyrus. Intracranial electrodes were implanted and used in combination with magnetic resonance imaging, video-electroencephalography and electrical cortical stimulation to assess neurological function, and where the epileptogenic zone was located.

Results: The results of intracranial electrode monitoring suggested that the epileptogenic zone was located in the tumor area and that cortical function had been reorganized. We completely resected the tumor based on these findings. The patient has been seizure free after the surgery and has not had any neurological deficits.

Conclusions: Simple form DNTs in the precentral gyrus can be completely resected with careful preoperative assessment of cortical function. Cortical reorganization could partly explain the functional preservation after surgery.

                                                                                                  World J Pediatr 2015;11(3):281-283

Key words: cortical reorganization; dysembryoplastic neuroepithelial tumor;      epilepsy; precentral gyrus; surgery