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Vol 9, No 2
Vol 9, No 2 May 2013 ISSN 1708-8569
 
Editorial
Review articles
Original articles
Brief report
Case reports
   
Editorial:
Childhood obesity and type 2 diabetes: the frightening epidemic
  Nicola Santoro
   

Childhood obesity and type 2 diabetes: the frightening epidemic

Nicola Santoro

New Haven, CT, USA

Author Affiliations: Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA (Santoro N)

Corresponding Author: Nicola Santoro, MD, PhD, Department of Pediatrics, Yale University School of Medicine, 330 Cedar Street, P.O. Box 208064, New Haven 06520, CT, USA (Tel: 203-737-6356; Fax: 203-785-6421; Email: nicola.santoro@yale.edu)

doi: 10.1007/s12519-013-0410-8
  [Abstract] [Full Text] [PDF]  
Review articles:
Sexual precocity and its treatment
  DeAnna B Brown, Lindsey A Loomba-Albrecht, Andrew A Bremer
   

Sexual precocity and its treatment

DeAnna B Brown, Lindsey A Loomba-Albrecht, Andrew A Bremer

Nashville, TN, USA

Author Affiliations: Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA (Brown DB, Bremer AA); Department of Pediatrics, University of California Davis School of Medicine, Sacramento, California 95817, USA (Loomba-Albrecht LA); Department of Pediatrics, Division of Endocrinology, Vanderbilt University, 2200 Children's Way, 11134-A DOT-9170, Nashville, TN  37232-9170, USA (Bremer AA)

Corresponding Author: Andrew A Bremer, MD, PhD, Department of Pediatrics, Division of Endocrinology, Vanderbilt University, 2200 Children's Way, 11134-A DOT-9170, Nashville, TN 37232-9170, USA (Email: andrew.a.bremer@vanderbilt.edu)

doi: 10.1007/s12519-013-0411-7

Background: Puberty is a complex and dynamic period in development during which individuals transition from the juvenile to adult state. Regulated by multiple genetic and endocrine controls, it is characterized by somatic growth and sexual maturation. Sexual precocity is defined as the appearance of secondary sexual characteristics before the lower limit of the normal age for pubertal onset.

Data sources: Based on recent publications and the experience with the disease of our group, we reviewed the normal timing and order of puberty, the definition of sexual precocity, the classification of sexual precocity, the differential diagnosis of sexual precocity, variations in pubertal development, the diagnosis of sexual precocity, and the treatment of sexual precocity.

Results: Sexual precocity can be classified as either gonadotropin-releasing hormone (GnRH)-dependent or GnRH-independent. Regardless of the etiology, sexual precocity causes increased height velocity, somatic development, and skeletal maturation, which may have profound physical and psychological implications.

Conclusions: The treatment of sexual precocity is focused on its cause and must address both its psychosocial and clinical implications. For GnRH-dependent precocious puberty, GnRH agonists are the main pharmacological agents used. Alternatively, the treatment of disorders causing GnRH-independent sexual precocity is directed toward the underlying abnormality.

Key words: puberty; sex precocity

World J Pediatr 2013;9(2):103-111
  [Abstract] [Full Text] [PDF]  
Controversial role of pets in the development of atopy in children
  Andrew Fretzayas, Doxa Kotzia, Maria Moustaki
   

Controversial role of pets in the development of atopy in children

Andrew Fretzayas, Doxa Kotzia, Maria Moustaki

Athens, Greece

Author Affiliations: Third Department of Pediatrics, "Attikon" University Hospital, School of Medicine, University of Athens, Athens, Greece (Fretzayas A, Kotzia D, Moustaki M)

Corresponding Author: Andrew Fretzayas, MD, PhD, Professor of Pediatrics, 3rd Department of Pediatrics, "Attikon" University Hospital, Athens University School of Medicine, 1 Rimini str, Haidari, Athens 12462, Greece (Tel: 00302105832228; Fax: 00302105832229; Email: mar.moustaki@gmail.com)

doi: 10.1007/s12519-013-0412-6

Background: Exposure to environmental allergens originating from different sources has been implicated in the sensitization to the respective allergens and development of atopic diseases. Keeping domestic animals is associated with exposure to relevant allergens but there are controversial data whether this exposure promotes or protects from the development of atopy.

Data sources: We herein reviewed the literature regarding the available data for the exposure to pets (cats and/or dogs) and the development of atopy. For this purpose, we searched the PubMed database.

Results: This review attempts to answer the following questions that arise from the daily practice and the relevant studies, which are: a) is pet keeping associated with sensitization? b) is there an association between keeping pets and the development of asthma, allergic rhinitis and eczema, and, c) what is the underlying mechanism of any possible protective association? Despite the fact that several studies and meta-analyses have been conducted to explore the role of pets in the development of atopy, there are still conflicting pieces of evidence. It seems that there are different effects depending on the type of pets, the time and duration of exposure, and the genetic background of the individual.

Conclusion: Further appropriately designed birth cohort studies are needed to explore whether exposure to relevant allergens from pets promotes or protects from the development of atopy.

Key words: allergic rhinitis asthma; atopic dermatitis; atopy; pet keeping

World J Pediatr 2013;9(2):112-119

  [Abstract] [Full Text] [PDF]  
Original articles:
Environmental risk factor assessment: a multilevel analysis of childhood asthma in China
  Fei Li, Ying-Chun Zhou, Shi-Lu Tong, Sheng-Hui Li, Fan Jiang, Xing-Ming Jin, Chong-Huai Yan, Ying Tian, Shi-Ning Deng, Xiao-Ming Shen
   

Environmental risk factor assessment: a multilevel analysis of childhood asthma in China

Fei Li, Ying-Chun Zhou, Shi-Lu Tong, Sheng-Hui Li, Fan Jiang, Xing-Ming Jin, Chong-Huai Yan, Ying Tian, Shi-Ning Deng, Xiao-Ming Shen

Shanghai, China

Author Affiliations: Department of Developmental and Behavioral Pediatrics, Shanghai Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China (Li F, Jiang F, Jin XM, Deng SN, Shen XM); Shanghai Key Laboratory of Children's Environmental Health, Shanghai Jiaotong University School of Medicine Shanghai, China (Li F, Li SH, Jiang F, Jin XM, Yan CH, Tian Y, Deng SN, Shen XM); The Key Laboratory of Children's Environmental Health, Ministry of Education, China (Li F, Li SH, Jiang F, Jin XM, Yan CH, Tian Y, Deng SN, Shen XM); Department of Statistics and Actuarial Sciences, East China Normal University, China (Zhou YC); School of Public Health and Institute of Health and Biomedical Innovation, Queensland University of Technology, Australia (Tong SL)

Corresponding Author: Xiao-Ming Shen, MD, 1678 Dongfang Road, Shanghai 200129, China (Tel: 86-21-38626161-6020; Fax: 86-21-38626161-6020; Email: xmshen@shsmu.edu.cn)

doi: 10.1007/s12519-013-0413-5

Background: Rapid changes in socioeconomic environ-ment and their diverse patterns in China raise a question: how socio-environmental factors affect childhood asthma in China. We performed a multilevel analysis based on a 2005 national survey to understand the association between environmental factors and asthma, and to provide insights on developing prevention strategies.

Methods: A multi-center, cross-sectional survey was conducted in 2018 school-aged children chosen from eight Chinese cities. Children of 6-13 years old were chosen randomly from schools of 39 centers in 8 cities. The multilevel analysis was made to assess both individual-level and city-level risk factors. The effect of gross domestic product (GDP) was further investigated by analysis of the factors.

Results: Analysis of city-level environmental factors showed that GDP [adjusted odds ratio (OR)=1.88], particulate matter with aerodynamic diameter ≤10 μm (PM10) (adjusted OR=1.37), and average humidity (adjusted OR=1.33) were strong risk factors. Further analysis of the factors decomposed GDP into two major factors, the first represented by urban construction, energy consumption, nitrogen dioxide concentration, and the second represented by health-system coverage. This suggested that the negative effects of GDP outweighed its positive effects on asthma.

Conclusions: The prevalence of childhood asthma varies significantly in the eight Chinese cities. Socio-environmental factors such as GDP, PM10 and average humidity are strong risk factors controlling individual attributes, suggesting that balance is needed between public health and economic development in China.

Key words: asthma; environmental health; risk factors; socioeconomic factors

World J Pediatr 2013;9(2):120-126

  [Abstract] [Full Text] [PDF]  
Status and trends of diabetes in Chinese children: analysis of data from 14 medical centers
  Jun-Fen Fu, Li Liang, Chun-Xiu Gong, Feng Xiong, Fei-Hong Luo, Ge-Li Liu, Pin Li, Li Liu, Ying Xin, Hui Yao, Lan-Wei Cui, Xing Shi, Yu Yang, Lin-Qi Chen, Hai-Yan Wei
   

Status and trends of diabetes in Chinese children: analysis of data from 14 medical centers

Jun-Fen Fu, Li Liang, Chun-Xiu Gong, Feng Xiong, Fei-Hong Luo, Ge-Li Liu, Pin Li, Li Liu, Ying Xin, Hui Yao, Lan-Wei Cui, Xing Shi, Yu Yang, Lin-Qi Chen, Hai-Yan Wei

Hangzhou, China 

Author Affiliations: Key Laboratory of Reproductive Genetics, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China (Fu JF, Liang L); Beijing Children's Hospital of Capital Medical University, Beijing, China (Gong CX); Children's Hospital of Chongqing Medical University, Chongqing, China (Xiong F); Children's Hospital of Shanghai Fudan University, Shanghai, China (Luo FH); General Hospital of Tianjin Medical University, Tianjin, China (Liu GL); Children's Hospital of Shanghai, Children's Hospital of Shanghai Jiaotong University, Shanghai, China (Li P); Guangzhou Women and Children's Medical Center, Guangzhou, China (Liu L); Shengjing Hospital of China Medical University, Shenyang, China (Xin Y); Wuhan Children's Hospital, Wuhan, China (Yao H); The First Affiliated Hospital of Harbin Medical University, Harbin, China (Cui LW); Nanjing Children's Hospital, Nanjing Medical University, Nanjing, China (Shi X); Children's Hospital of Jiangxi Province, Nanchang, China (Yang Y); Children's Hospital of Soochow University, Suzhou, China (Chen LQ); Zhengzhou Children's Hospital, Zhengzhou, China (Wei HY)

Corresponding Author: Li Liang, MD, Department of Endocrinology of Children's Hospital, Zhejiang University School of Medicine, 57 Zhugan Avenue, Hangzhou 310003, China (Tel: 86-571-87061007; Fax: 86-571-87033296; Email: zdliangli@yahoo.com.cn)

doi: 10.1007/s12519-013-0414-4

Background: Childhood diabetes has become a growing concern. We conducted a study to evaluate the status and trend of diabetes from 14 medical centers in China. Pre-diabetic status among obese children was also noted.

Methods: Hospital medical records were reviewed, and data of diabetes were collected from 1995 through 2010. We took every five years as a calculation unit to analyze the trend of new-onset diabetes. Data on obesity were collected in the recent five years.

Results: A total of 4 337 836 patients aged 0-18 years were discharged from the 14 centers. The prevalence (per 100 000 persons) of new-onset type 1 diabetes, type 2 diabetes and other types of diabetes were 96.8, 8.0, and 3.3, respectively. The prevalence of type 1 diabetes increased from 90.9 to 92.9 and 101.4, while type 2 diabetes increased from 4.1 to 7.1 and 10.0 in every five years (P<0.0001). The increasing trend was significant from Southwest to East and North China (type 1 diabetes from 59.76 to 80.02 and 120.45, type 2 diabetes from 2.52 to 3.77 and 15.64 (per 100 000 persons) (all P<0.0001). Well developed areas in China had a higher prevalence compared to less developed areas [type 1 diabetes: 151.51 vs. 32.2 (per 100 000 persons); type 2 diabetes: 15.16 vs. 1.64 and others: 7.54 vs. 0.42 (per 100 000 persons)]. Of the 3153 obese children, 18.24% had impaired fasting glucose (IFG), 5.99% had impaired gulose tolerance (IGT), and 4% had combined IFG and IGT.

Conclusions: The prevalence of childhood diabetes in China has increased dramatically, with type 2 diabetes exceeding type 1 diabetes. The incidence rate of abnormal glucose metabolism in obese children has reached 28.26%.

Key words: diabetes mellitus; obesity; prediabetic status

World J Pediatr 2013;9(2):127-134

  [Abstract] [Full Text] [PDF]  
Prevalence and regional distribution of childhood overweight and obesity in Shandong Province, China
  Ying-Xiu Zhang, Shu-Rong Wang
   

Prevalence and regional distribution of childhood overweight and obesity in Shandong Province, China

Ying-Xiu Zhang, Shu-Rong Wang

Jinan, China

Author Affiliations: Shandong Center for Disease Control and Prevention, Jinan, China (Zhang YX); Shandong Blood Center, Jinan, China (Wang SR)

Corresponding Author: Ying-Xiu Zhang, Shandong Center for Disease Control and Prevention, 16992 Jingshi Road, Jinan 250014, China (Tel: +86-0531-82679413; Fax: +86-0531-82679708; Email: sdcdczyx@163.com)

doi: 10.1007/s12519-012-0392-y

Background: The rising prevalence of childhood obesity was observed in China. This study assessed the prevalence and district distribution of childhood obesity in Shandong Province, China.

Methods: A cross-sectional study was conducted in the province. A total of 42 275 students (21 222 boys and 21 053 girls) aged 7-18 years from 16 districts participated in this study. Height and body weight of all subjects were measured, and the body mass index (BMI) was calculated. The prevalence of overweight and obesity was obtained according to the International Obesity Task Force (IOTF) cut-offs.

Results: In 2010, the prevalence rates of combined overweight and obesity reached 26.86% in urban boys, 18.32% in rural boys, 14.36% in urban girls, and 11.31% in rural girls, respectively. An increasing trend was observed in the prevalence of overweight and obesity from the low socioeconomic status (SES) group to the moderate and high SES groups. The prevalence  rates of combined overweight and obesity in the three SES groups were 18.46%, 21.08% and 27.31% in boys and 10.43%, 12.42% and 15.18% in girls, respectively.

Conclusions: There is a high level of overweight and obesity among children and adolescents in Shandong Province, China. The distribution of childhood obesity is positively associated with the regional SES.

Key words: child and adolescent; district difference; prevalence; obesity; overweight

World J Pediatr 2013;9(2):135-139

  [Abstract] [Full Text] [PDF]  
Risk factors associated with pediatric intensive care unit admission and mortality after pediatric stem cell transplant: possible role of renal involvement
  Nabil E Hassan, Aly S Mageed, Dominic J Sanfilippo, Dianne Reischman, Ulrich A Duffner, Surender Rajasekaran
   

Risk factors associated with pediatric intensive care unit admission and mortality after pediatric stem cell transplant: possible role of renal involvement

Nabil E Hassan, Aly S Mageed, Dominic J Sanfilippo, Dianne Reischman, Ulrich A Duffner, Surender Rajasekaran

Michigan, USA

Author Affiliations: Pediatric Critical Care Medicine, Blood and Bone Marrow Transplant, Helen DeVos Children's Hospital, USA (Hassan NE, Mageed AS, Sanfilippo DJ, Reischman D, Duffner UA, Rajasekaran S)

Corresponding Author: Nabil Hassan, MD, Helen DeVos Children's Hospital, 100 Michigan St NE, MC# 117, Grand Rapids MI 49503, USA (Tel: 616-267-0115; Fax: 616-267-0090; Email: Nabil.Hassan@helendevoschildrens.org)

doi: 10.1007/s12519-012-0391-z

Background: Hematopoietic stem-cell transplant (HSCT) is associated with many risk factors for life-threatening complications. Post-transplant critical illness often requires admission to the pediatric intensive care unit (PICU).

Methods: A retrospective analysis was made on the risk factors associated with PICU admission and mortality of all HSCT patients at Helen DeVos Children's Hospital from October 1998 to November 2008.

Results: One hundred and twenty-four patients underwent HSCT, with 19 (15.3%) requiring 29 PICU admissions. Fifty patients received autologous, 38 matched sibling, and 36 matched un-related donor HSCT, with 10%, 13% and 25% of these patients requiring PICU admission, respectively (P=0.01). Among the HSCT patients, those who were admitted to the PICU were more likely to have renal involvement by either malignancy requiring nephrectomy or a post transplant complication increasing the likelihood of  decreased renal function (21.1% vs. 4.8%, P=0.03). PICU admissions were also more likely to receive pre-transplant total body irradiation  (52.6% vs. 27.6%, P=0.03). Among 29 patients with PICU admission, 3 died on day 1 after admission, and 5 within 30 days (a mortality rate of 17%). Thirty days after PICU admission, non-survivors had a higher incidence of respiratory failure and septic shock on admission compared with survivors (80% vs. 16.7%, P=0.01 and 80% vs. 4.2%, respectively, P=0.001). Two survivors with chronic renal failure underwent renal transplantation successfully.

Conclusions: Total body irradiation and renal involvement are associated with higher risk for PICU admissions after HSCT in pediatric patients, while septic shock upon admission and post-admission respiratory failure are associated with mortality.

Key words: hematopoietic stem-cell transplant; intensive care; renal complications

World J Pediatr 2013;9(2):140-145

  [Abstract] [Full Text] [PDF]  
Low iron storage in children with tilt positive neurally mediated syncope
  Baris Guven, Taliha Oner, Vedide Tavli, Murat Muhtar Yilmazer, Savas Demirpence, Timur Mese
   

Low iron storage in children with tilt positive neurally mediated syncope

Baris Guven, Taliha Oner, Vedide Tavli, Murat Muhtar Yilmazer, Savas Demirpence, Timur Mese

Izmir, Turkey

Author Affiliations: Department of Pediatric Cardiology, Izmir Dr Behcet Uz Children's Hospital, Izmir, Turkey (Guven B, Oner T, Tavli V, Yilmazer MM, Demirpence S, Mese T)

Corresponding Author: Baris Guven, M.D., Pediatric Cardiology, Izmir Dr Behcet Uz Children's Hospital,  Izmir, Turkey (Tel: +902324895656-2210; Fax: +902324892315; Email: drbarisguven@yahoo.com)

doi: 10.1007/s12519-012-0396-7

Background: The mechanisms under neurally mediated syncope (NMS) are not fully understood. This study aimed to assess the level of storage iron in children with different hemodynamic patterns in head-up tilt test.

Methods: Altogether 210 children (11.31±2.49 years) with syncope or pre-syncope treated between May 2008 and September 2010 were studied prospectively. Following history taking and physical examination, their levels of hemoglobin (Hb), hematocrit (Hct) and serum ferritin were measured.

Results: In the 210 children, 162 (77.1%) had NMS and 48 (22.9%) had syncope due to other causes. In the 162 children with NMS, 98 children were subjected to positive tilt test. The level of serum ferritin was significantly lower in the 98 children with NMS (P<0.001). The comparison of levels of Hb, Hct and mean cell volume (MCV) displayed no significant difference between the two groups. Reduced iron storage (serum ferritin <25 ng/mL) was found to be more prevalent in children with NMS (63% vs. 20%, P<0.001). Prevalence of iron deficiency was also significantly higher in children with NMS than in children with syncope due to other causes (27% vs. 6%, P=0.003).

Conclusions: In head-up tilt test positive children with NMS, the level of serum ferritin should be evaluated. Low storage iron may be one of the underlying mechanisms of NMS.

Key words: head-up tilt table test; neutrally mediated syncope; serum ferritin

World J Pediatr 2013;9(2):146-151

  [Abstract] [Full Text] [PDF]  
Intestinal helminthiasis in children with chronic neurological disorders in Benin City, Nigeria: intensity and behavioral risk factors
  Damia Uchechukwu Nwaneri, Michael Okoeguale Ibadin, Gabriel Egberue Ofovwe, Ayebo Evawere Sadoh
   

Intestinal helminthiasis in children with chronic neurological disorders in Benin City, Nigeria: intensity and behavioral risk factors

Damia Uchechukwu Nwaneri, Michael Okoeguale Ibadin, Gabriel Egberue Ofovwe, Ayebo Evawere Sadoh

Benin City, Nigeria

Author Affiliations: Department of Child Health, University of Benin Teaching Hospital, PMB 1111, Benin City, Nigeria (Nwaneri DU, Ibadin MO, Ofovwe GE); Institute of Child Health, University of Benin, Benin City, Nigeria (Sadoh AE)

Corresponding Author: Nwaneri DU, Department of Child Health, University of Benin Teaching Hospital, PMB 1111, Benin City, Edo State, Nigeria (Tel: +2348056321577; +23480139172309; Email: damiannwaneri@yahoo.com)

doi: 10.1007/s12519-012-0394-9

Background: Behavioral aberrations such as nail biting, finger sucking, and pica have been postulated as risk factors that enhance helminths ova transmission. These aberrations may present commonly in children with chronic neurological disorders and predispose them to heavy intensity of intestinal helminthiasis. This comparative cross-sectional study was to determine the prevalence, intensity, and behavioral risk factors for intestinal helminthiasis in children with chronic neurological disorders and apparently healthy controls.

Methods: Fresh stool samples from 155 children (2-17 years) with chronic neurological disorders seen at the child neurology clinic and 155 age and sex matched controls from nursery and primary schools in Benin City were analyzed using the Kato-Katz technique for detection of ova of helminths from November 2008 to April 2009.

Results: The prevalence of intestinal helminthiasis (31.0%) was significantly higher in children with chronic neurological disorders compared with the controls (19.4%) (P=0.03). The intensity of infections in both groups was light ranging 24-144 eggs per gram. Ascaris lumbricoides, Trichuris trichiura and hookworm were the intestinal helminths isolated in both groups. Behavioral aberrations were significantly more represented in the subjects than in the controls (P<0.0001, OR=2.8). Nail biting and encopresis were the most significant independent predictors of intestinal helminthiasis (P=0.025 and 0.001, respectively) in the subjects only. Hand washing with water and soap after defecation and frequent de-worming exercise were practices significantly associated with decreased prevalence of intestinal helminthiasis in the subjects and controls.

Conclusions: Behavioral modification in children with chronic neurological disorders should be an integral part of the control program for intestinal helminthiasis.

Key words: encopresis; helminthiasis; intensity; risk

World J Pediatr 2013;9(2):152-157

 

  [Abstract] [Full Text] [PDF]  
Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease
  Juan Geng, Jian Wang, Ru-En Yao, Xiao-Qing Liu, Qi-Hua Fu
   

Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease

Juan Geng, Jian Wang, Ru-En Yao, Xiao-Qing Liu, Qi-Hua Fu

Shanghai, China

Author Affiliations: Department of Laboratory Medicine (Geng J, Yao RE, Fu QH), Division of Birth Defects Research, Institute of Pediatric Translational Medicine (Wang J, Fu QH), and Department of Pediatric Internal Medicine (Liu XQ), Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China

Corresponding Author: Qi-Hua Fu, PhD, Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine. 1678 Dongfang Road, Shanghai 200127, China (Tel: +86-21-38625568; Fax: +86-21-58756923; Email: qfu@shsmu.edu.cn)

doi: 10.1007/s12519-012-0388-7

Background: Wilson disease (WND), also called hepatolenticular degeneration, is an autosomal recessive genetic disorder in which copper abnormally accumulates in several organs. WND arises from the defective ATP7B gene, which encodes a copper transporting P-type ATPase.

Methods: The molecular defects in 11 unrelated Chinese WND patients aged from 3 to 12 years were investigated. The diagnosis of these patients was based on typical clinical symptoms and laboratory testing results. All 21 exons and exon-intron boundaries of the ATP7B gene were amplified by polymerase chain reaction from the genomic DNA of the patients and then analyzed by direct sequencing. One hundred healthy subjects served as controls to exclude gene polymorphism.

Results: In one novel (c.3605 C>G) and nine recurrent mutations of ATP7B identified, there were eight missense mutations, one splice-site mutation, and one nonsense mutation. The novel c.3605 C>G mutation resulted in the substitution of alanine by glycine at amino acid position 1202 (p.Ala1202Gly). The most frequent ATP7B mutation was c.2333 G>T (p.Arg778Leu), followed by c.2975 C>T (p.Pro992Leu), which accounted for 63.6% of the WND mutated alleles.

Conclusions: The novel c.3605 C>G mutation in ATP7B is one of the molecular mechanisms of WND.

Key words: ATP7B; gene; mutation; Wilson disease

World J Pediatr 2013;9(2):158-162

  [Abstract] [Full Text] [PDF]  
Persistent asymptomatic isolated hematuria in children: clinical and histopathological features and prognosis
  Chun-Yue Feng, Yong-Hui Xia, Wen-Jin Wang, Jin Xia, Hai-Dong Fu, Xia Wang, Hui-Jun Shen, Gu-Ling Qian, Ai-Min Liu, Jian-Hua Mao
   

Persistent asymptomatic isolated hematuria in children: clinical and histopathological features and prognosis

Chun-Yue Feng, Yong-Hui Xia, Wen-Jin Wang, Jin Xia, Hai-Dong Fu, Xia Wang, Hui-Jun Shen, Gu-Ling Qian, Ai-Min Liu, Jian-Hua Mao

Hangzhou, China

Author Affiliations: Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China (Feng CY, Xia YH, Wang WJ, Xia J, Fu HD, Wang X, Shen HJ, Qian GL, Liu AM, Mao JH)

Corresponding Author: Yong-Hui Xia, Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China (Tel: 86-571-87061007; Fax: 86-571-87033296; Email: xyhhz916@sohu.com)

doi: 10.1007/s12519-013-0415-3

Background: This study involving 351 children who had undergone kidney biopsy secondary to persistent asymptomatic isolated hematuria was undertaken to assess histological diagnosis of the disease and its natural history and prognosis.

Methods: The patients were divided into two groups: 215 patients with asymptomatic isolated microhematuria (AIMH; proteinuria <0.1 g⁄day) and 136 patients with persistent asymptomatic microhematuria, recurrent macrohematuria and/or proteinuria (AMHP; proteinuria 0.1-0.25 g/day). After kidney biopsy, the patients were monitored for 2-10 years.

Results: Normal biopsies or minor abnormalities were more frequent in AIMH patients than those in AMHP patients, who exhibited IgA nephropathy more frequently. During the 2- to 10-year follow-up period, adverse renal events (i.e., development of proteinuria, hypertension, or impaired renal function) were observed in 13/215 (6.0%) patients with AIMH and 31/136 (22.8%) patients with AMHP (χ2=15.521, P<0.001).

Conclusions: Normal biopsies or minor abnormalities were more frequently observed in AIMH patients, whereas IgA nephropathy and adverse renal events were more frequent in AMHP. Microscopic hematuria, especially when accompanied by macroscopic hematuria and proteinuria, may represent an important risk factor for the development of chronic kidney disease.

Key words: adverse renal events; asymptomatic isolated hematuria; proteinuria

World J Pediatr 2013;9(2):163-168

  [Abstract] [Full Text] [PDF]  
Trampoline related injuries in children: risk factors and radiographic findings
  Peter Klimek, David Juen, Enno Stranzinger, Rainer Wolf, Theddy Slongo
   

Trampoline related injuries in children: risk factors and radiographic findings

Peter Klimek, David Juen, Enno Stranzinger, Rainer Wolf, Theddy Slongo

Bern, Switzerland

Author Affiliations: Department of Pediatric Surgery (Klimek P, Juen D, Slongo T), Department of Diagnostic, Interventional and Pediatric Radiology, Inselspital, University of Bern, Switzerland (Stranzinger E, Wolf R)

Corresponding Author: Peter Michael Klimek, MD, Department of Pediatric Surgery University of Bern, Inselspital, CH- 3010 Bern, Switzerland (Tel: 0041 31 632 21 11; Fax: 0041 31 632 92 92; Email: peter.klimek@ksa.ch)

doi: 10.1007/s12519-013-0416-2

Background: Backyard trampolines are immensely popular among children, but are associated with an increase of trampoline-related injuries. The aim of this study was to evaluate radiographs of children with trampoline related injuries and to determine the risk factors.

Methods: Between 2003 and 2009, 286 children under the age of 16 with backyard trampoline injuries were included in the study. The number of injuries increased from 13 patients in 2003 to 86 in 2009. The median age of the 286 patients was 7 years (range: 1-15 years). Totally 140 (49%) patients were males, and 146 (51%) females.Medical records and all available diagnostic imaging were reviewed. A questionnaire was sent to the parents to evaluate the circumstances of each injury, the type of trampoline, the protection equipment and the experience of the children using the trampoline. The study was approved by the Institutional Ethics Committee of the University Hospital of Bern.

Results:  The questionnaires and radiographs of the 104 patients were available for evaluation. A fracture was sustained in 51 of the 104 patients. More than 75% of all patients sustaining injuries and in 90% of patients with fractures were jumping on the trampoline with other children at the time of the accident. The most common fractures were supracondylar humeral fractures (29%) and forearm fractures (25%). Fractures of the proximal tibia occurred especially in younger children between 2-5 years of age.

Conclusions: Children younger than 5 years old are at risk for specific proximal tibia fractures ("Trampoline Fracture"). A child jumping simultaneously with other children has a higher risk of suffering from a fracture.

Key words: fracture; injuries; prevention; trampoline

World J Pediatr 2013;9(2):169-174
  [Abstract] [Full Text] [PDF]  
Brief report:
Radiation exposure in extremely low birth weight infants during their neonatal intensive care unit stay
  Narayan Prabhu Iyer, Amy Baumann, Mark Stephen Rzeszotarski, Robert Donald Ferguson, Maroun Jean Mhanna
   

Radiation exposure in extremely low birth weight infants during their neonatal intensive care unit stay

Narayan Prabhu Iyer, Amy Baumann, Mark Stephen Rzeszotarski, Robert Donald Ferguson, Maroun Jean Mhanna

Cleveland, Ohio, USA

Author Affiliations: Department of Pediatrics (Iyer NP, Baumann A, Mhanna MJ), and Department of Radiology (Rzeszotarski MS, Ferguson RD), MetroHealth Medical Center, Case Western Reserve University, Cleveland, Ohio, USA

Corresponding Author: Maroun Jean Mhanna, MD, MPH, MetroHealth Medical Center, 2500 MetroHealth Drive, Cleveland, Ohio 44109, USA (Tel: 216-778-1346; Fax: 216-778-4223; Email: mmhanna@metrohealth.org)

doi: 10.1007/s12519-013-0417-1

Background: Extremely low birth weight (ELBW <1000 g) infants may have increased sensitivity to radiation exposure. Our objective was to estimate the radiation exposure in survivors of ELBW infants during their neonatal intensive care unit (NICU) stay.

Methods: In this retrospective cohort study, medical records of all ELBW infants who had been admitted to our NICU between May 1999 and October 2009 were reviewed. The infants' total entrance skin exposure [ESE in micro-Gray (µGy)] was estimated.

Results: Among 450 survivors, the mean gestational age (GA) was 26.3±2.1 weeks, and the mean birth weight (BW) was 774.2±144.4 g. Infants received a median of 32 (range: 1-159) X-rays, with an estimated ESE of 1471 µGy (range: 28-9264). Total ESE was inversely proportional to GA (r=-0.34; P<0.01), and BW (r=-0.39; P=0.01) and proportional to the severity of illness [score for neonatal acute physiology-perinatal extension (SNAPPE), r=0.39; P=0.01]. In a linear regression analysis, GA, SNAPPE and necrotizing enterocolitis were associated with radiation exposure (ESE) in ELBW infants (r2=0.133; P<0.001).

Conclusions: During their NICU stay, ELBW infants were subjected to a significant number of diagnostic X-ray procedures. Our data highlight the need to closely monitor the number of X-ray procedures ordered to ELBW infants to avoid unnecessary radiation exposure.

Key words: entrance skin exposure; extremely low birth weight infants; radiation exposure

World J Pediatr 2013;9(2):175-178

  [Abstract] [Full Text] [PDF]  
Case reports:
Trisomy 18 mosaicism: report of two cases
  Siddharth Banka, Kay Metcalfe, Jill Clayton-Smith
   

Trisomy 18 mosaicism: report of two cases

Siddharth Banka, Kay Metcalfe, Jill Clayton-Smith

Manchester, UK

Author Affiliations: Academic Unit of Medical Genetics, St. Mary's Hospital, Manchester, M13 9WL, UK (Banka S, Metcalfe K, Clayton-Smith J)

Corresponding Author: Dr. Siddharth Banka, Department of Genetic Medicine, St. Mary's Hospital, Manchester M13 9WL, UK (Tel: +44 161 27 66506; Fax: +44 161 27 66145; Email: Siddharth.Banka@manchester.ac.uk)

doi: 10.1007/s12519-011-0280-x

Background: Mosaic trisomy 18 has a wide phenotypic spectrum ranging from near normal to early death. We report two cases that add to our knowledge of the disease.

Methods: Patient 1 was a girl with a tracheoesophageal fistula, horse-shoe kidneys and a ventricular septal defect. Karyotyping of her lymphocytes showed complete trisomy 18. Due to her milder phenotypes, skin fibroblasts were karyotyped. Patient 2 was a boy with biventricular hypertrophic cardiomyopathy, patent ductus arteriosus, ventricular and atrial septal defects and significant feeding problems.

Results: Karyotyping of the skin and lymphocytes in patients 1 and 2 respectively revealed trisomy 18 mosaicism. Both children had only mild learning problems and were generally healthy with satisfactory growth. Patient 1 illustrates the possibility of significant discrepancy between the levels of trisomic cells in skin fibroblasts and lymphocytes leading to misdiagnosis. This finding has significant implications in medical management and counselling. Hypertrophic cardiomyopathy in patient 2 is recognized as a novel finding for this condition.

Conclusion: There is the possibility of good outcome for patients with mosaic trisomy 18, even in the presence of multiple congenital anomalies.

Key words: horse-shoe shaped kidneys; hypertrophic cardiomyopathy mosaicism; trisomy 18

World J Pediatr 2013;9(2):179-181

  [Abstract] [Full Text] [PDF]  
Blount disease in a case of Prader-Willi syndrome: why is it not as prevalent as in obesity without Prader-Willi syndrome?
  Susan Dulka, Arabinda Kumar Choudhary, Sosamma Methratta, Kristine Fortuna
   

Blount disease in a case of Prader-Willi syndrome: why is it not as prevalent as in obesity without Prader-Willi syndrome?

Kumar Choudhary, Sosamma Methratta, Kristine Fortuna

Hershey, USA

Author Affiliations: Department of Radiology (Dulka S, Choudhary AK, Methratta S) and Department of Orthopedics (Fortuna K), Penn State/Milton S. Hershey Medical Center, 500 University Drive, Hershey, PA, 17036, USA

Corresponding Author: Susan Dulka, MD, Department of Radiology, Penn State/Milton S. Hershey Medical Center, 500 University Drive, Hershey, PA, 17036, USA (Tel: 7175310000; Fax: 717 531 5596; Email: sdulka@hmc.psu.edu)

doi: 10.1007/s12519-011-0315-3

Background: Prader-Willi syndrome (PWS) is a genetic disorder causing multisystem abnormalities with obesity. Obesity is a well established cause of Blount disease.

Methods: A 7-year-old girl with PWS presented with genu varum of the left knee with deformity of the proximal medial tibial condyle, which was consistent with Blount disease.

Results: A lateral physeal stapling and subsequent osteotomy for the left proximal tibia and fibula were performed with improved anatomical alignment.

Conclusion: Blount disease has not been reported in the literature in association with PWS despite excessive obesity.

Key words: Blount disease; genetics; obesity; Prader-Willi syndrome; radiology

World J Pediatr 2013;9(2):182-184

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  [Abstract] [Full Text] [PDF]  
Necrotizing fasciitis of the perineum
  Yasemin Akın, Ayşenur Cerrah Celayir, Tayfun Aköz, Hasret Ayyıldız Civan, Gökmen Kurt, Turgut Ağzıkuru, Ceyhan Şahin
   

Necrotizing fasciitis of the perineum

Yasemin Akın, Ayşenur Cerrah Celayir, Tayfun Aköz, Hasret Ayyıldız Civan, Gökmen Kurt, Turgut Ağzıkuru, Ceyhan Şahin

Istanbul, Turkey

Author Affiliations: First Department of Pediatrics, Dr. Lütfi Kırdar Kartal Educational and Research Hospital, İstanbul, Türkiye (Akın Y, Civan HA, Ağzıkuru T); Department of Pediatric Surgery, Zeynep Kamil Maternal and Child Educational and Research Hospital, İstanbul, Türkiye (Celayir AC, Kurt G, Şahin C); Department of Plastic and Reconstructive Surgery, Dr. Lütfi Kırdar Kartal Educational and Research Hospital, İstanbul, Türkiye (Aköz T)

Corresponding Author: Ayşenur Cerrah Celayir, Zeynep Kamil Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi, Başhekim, Arakiyeci Hacı Mehmet Mah. Op.Dr.Burhanettin Üstünel Cad. No:10, 34668, Üsküdar, İstanbul, Türkiye (Tel: +90 216 343 20 73; Fax: +90 216 343 92 51; Email: acelayir@ttmail.com)

doi: 10.1007/s12519-011-0294-4

Background: Necrotizing fasciitis is a severe soft tissue infection characterized by rapidly progressing necrosis, involving subcutaneous tissues. This rare condition carries a high mortality rate and requires prompt diagnosis and urgent treatment with radical debridement and antibiotics; but early diagnosis, which is essential to successful treatment, remains a challenge.

Methods: Physical examination findings, pre-operative and operative findings, histopathological results of the structure, and follow-up results of the patient are discussed with related reports.

Results: A 15-month old girl had a history of trivial perineal dermatitis after treatment of anemia and pneumonia. Perineal dermatitis progressed fastly as necrotizing fasciitis which was successfully managed with intensive medical treatment, surgical debridement and reconstructive surgery.

Conclusions: Lack of cutaneous findings early in the disease makes the diagnosis challenging, so a high suspicion is essential. Recovery of the patient from this life-threatening condition needs a multi-disciplinary approach involving pediatrics, pediatric surgery, and plastic and reconstructive surgery.

Key words: child; Fournier's gangrene; necrotizing fasciitis; perineum

World J Pediatr 2013;9(2):185-187

 

  [Abstract] [Full Text] [PDF]  
   
 
 
 
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