Author Affiliations: Department of Neonatology, Institute of Pediatrics, Chongqing Medical University, Chongqing 400014, China (Fan Y, Yu JL)

Corresponding Author: Jia-Lin Yu, Department of Neonatology, Institute of Pediatrics, Chongqing Medical University, Chongqing 400014, China (Tel: +86-13896069217; Email: yujialin486@sohu.com)

doi: 10.1007/s12519-012-0347-3

Background: Since the 1990s, finding the most efficient markers or combinations as predictors of early-onset neonatal sepsis has been the hot topic of studies. But there is no review of such biomarkers detected in umbilical blood at birth. By comparing clinical values of common inflammatory markers detected in cord blood shortly after birth, in this study we tried to find the most performing one or the most efficient combination that might be potentially used in birth room, as the earliest predictor of early-onset neonatal sepsis.

Data sources: We searched PubMed and Elsevier's Web of Science for studies evaluating cord blood inflammatory markers in relation to early-onset neonatal sepsis.

Results: Among C-reactive protein (CRP), procalcitonin (PCT), IL-6, IL-8, TNF-α and IL-1β, none of them could be used individually to establish or exclude the diagnosis of early-onset neonatal sepsis, but PCT, IL-6 and IL-8 have great superiority to CRP, TNF-α and IL-1β. When combined with other hematological markers and clinical observation, the clinical reliability of PCT, IL-6 and IL-8 could be improved. Prolonging the sample collection time window seems to have a positive effect on the clinical utility of IL-6 and IL-8.

Conclusions: More researches focusing on the combination of different umbilical cord biomarkers in different clinical settings are needed to achieve clearer conclusions. Multi-center, large-sized analysis, especially examining groups of cytokines, is also expected.

Key words: C-reactive protein; interleukins; neonatal sepsis; procalcitonin

World J Pediatr 2012;8(2):101-108

Corresponding Author: Mario Mastrangelo, M.D., Department of Pediatrics, Child Neurology Division, "La Sapienza" Roma, Via dei Sabelli 108, 00181 Rome, Italy (Tel: 0039-06-44712227; Fax: 0039-06-44712229; Email: mario.mastrangelo@uniroma1.it)

doi: 10.1007/s12519-012-0348-2

Background: Status epilepticus (SE) is a life-threatening neurologic disorder comprising prolonged and unremitting crisis, and two or more series of seizures without complete intercritical recovery.

Data sources: We reviewed the literature through a Pubmed/Medline research using key words including status epilepticus, antiepileptic drugs AND children, in order to revise and compare international/national protocols and to examine pediatric guidelines in SE management.

Results: Neurologic impairment and SE etiology seem to be the most independent risks for mortality. A deep semiologic evaluation is essential to addressing diagnostic work-up. Ematochemical parameters, plasma levels of antiepileptic drugs and clinically oriented toxic/metabolic screening should be mandatory for investigating both causes and effects of SE. Electroencephalography is clearly helpful to characterize focal from generalized SE and to distinguish epileptic events from pseudoseizures, and it is deal to find nonconvulsive SE. Neuroimaging techniques could detect epileptogenic lesions (such as cortical malformations, tumors, demyelinating disorders or strokes) but are common in practice to find negative or controversial results. Pharmacologic management can be essentially arranged in three stages: benzodiazepines for early SE (lasting less than 30 minutes), phenytoin/fosphenytoin, phenobarbital, valproate, levetiracetam or lacosamide for established SE (30-90 minutes), and anesthetics for refractory SE (more than 90 minutes).

Conclusions: Status epilepticus is the most common neurologic emergency in childhood. A systematic diagnostic work-up and a three steps based therapeutic approach is required at this age.

Key words: antiepileptic drugs; children; status epilepticus

                   World J Pediatr 2012;8(2):109-115

Author Affiliations: Department of Pediatrics, Kinki University School of Medicine, Osaka, Japan (Koshimichi M, Sugimoto K, Yanagida H, Fujita S, Miyazawa T, Sakata N, Okada M, Takemura T)

Corresponding Author: Tsukasa Takemura, MD, PhD, Department of Pediatrics, Kinki University School of Medicine 377-2 Ohno-higashi, Osaka-Sayama 589-8511, Japan (Tel: +11-81-72-366-0221; Fax: +11-81-72-368-1566; Email: tsukasa@med.kindai.ac.jp)

doi: 10.1007/s12519-012-0349-1

Background: In addition to the urinary abnormalities, symptoms of left renal vein entrapment between the aorta and superior mesenteric artery (left renal vein entrapment syndrome, LRVES) may include abdominal and flank pain as well as chronic fatigue. We investigated various LRVES symptoms in this study.

Methods: In 53 pediatric LRVES patients treated at our department, 22 had a score of 5 points or higher on orthostasis. Initial evaluation of LRVES by abdominal ultrasonography showed a stenotic-to-prestenotic vein diameter ratio of 0.2 or less. Definitive diagnosis was made by computed tomography and magnetic resonance angiography. Cortisol, catecholamine (CA), and brain natriuretic peptide (BNP) were also measured.

Results: The frequency of LRVES was 2.5 times higher in girls than in boys. Low or very low body mass indexes were seen in both sexes. The most common initial finding was urine abnormalities, followed by dizziness and malaise. In 6 patients, orthostasis precluded school attendance. Ten patients had orthostasis scores above 12. Patients unable to attend school had either low levels of plasma or urinary cortisol. Midodrine significantly decreased orthostasis scores. Some patients required treatment with fludrocortisone. Plasma CA, renin, and BNP levels were all normal.

Conclusions: Locally excessive venous pressure may cause reversible adrenal dysfunction with transitory Addisonian symptoms. Children with cryptogenic malaise or severe orthostasis should be evaluated for LRVES.

Key words: abdominal and flank pain; dizziness; hematuria; nutcracker syndrome; pre-stenotic dilation; proteinuria

                   World J Pediatr 2012;8(2):116-122

Author Affiliations: Division of Pediatric Gastroenterology (Cleveland K, Bishop P, Nowicki M) and Department of Pediatrics (Ahmad N), University of Mississippi Medical Center, Jackson, MS 39216, USA

Corresponding Author: Michael Nowicki, M.D., Division of Pediatric Gastroenterology, University of Mississippi Medical Center, 2500 North State Street, Jackson, MS 39216, USA (Tel: (601) 984-5232; Fax: (601) 815-1053; Email: mnowicki@umc.edu)

Background: Upper gastrointestinal bleeding (UGIB) may present as hematemesis, coffee-ground emesis, or melena requiring esophagogastroduodenoscopy (EGD) for diagnosis and/or therapy. Worldwide, differences exist for the etiology of UGIB reflecting geographical differences in common disease states. In the past 25 years, there have been improvements in endoscopic optics. This study was undertaken to determine: 1) if identifying a bleeding source in UGIB have improved with better endoscopic optics, 2) geographic differences in causes of UGIB, 3) differences in severity of UGIB based on clinical factors, and 4) the likelihood of finding a bleeding source based on symptom duration and time to endoscopy.

Methods: A retrospective chart review was made on children having EGD for evaluation of UGIB. Data collected included type, etiology, and degree of bleeding.

Results: Of 2569 diagnostic procedures, 167 (6.5%) were performed for UGIB. The most common presentation was hematemesis (73.4%). Melena was associated with lower hemoglobin levels and higher transfusion rates. A source of UGIB was found in 57.0%, no cause in 11.4% and a questionable cause in 29.7%. A source was found less commonly in children with a history of UGIB less than one month and in those undergoing endoscopy over 48 hours after a bleeding episode.

Conclusions: Improved endoscopic optics has not changed diagnostic ability for UGIB. Etiologic differences for UGIB in children from varying geographic areas are related to indication for endoscopy, patient selection, and co-morbid conditions. Duration of bleeding and time to endoscopy after a bleeding episode may help predict when endoscopy should be performed to determine a bleeding source.

Key words: esophagogastroduodenoscopy; hematemesis; melena; upper gastrointestinal bleeding

World J Pediatr 2012;8(2):123-128

Neng-liang Yao, Marianne M. Hillemeier

University Park, PA, USA

Author Affiliations: Department of Health Policy and Administration, the Pennsylvania State University, USA (Yao N, Hillemeier MM)

Corresponding Author: Neng-liang Yao, Department of Health Policy and Administration, College of Health and Human Development, the Pennsylvania State University, 604 Ford Building, University Park, PA 16802, USA (Tel/Fax: (814) 380 1251 / (814) 863 2905; Email: ayao@psu.edu)

doi: 10.1007/s12519-012-0346-4

Background: Inaccurate parental perceptions of child weight status as well as children's own misperceptions can reduce motivation to adopt optimal nutritional and physical activity behaviors, thereby increasing overweight and obesity risk in child populations in the U.S. and elsewhere. Using population-based data from nine provinces of China, we analyzed the accuracy of maternal perceptions and children's self-assessments of weight status.

Methods: The data were collected from 1265 children aged 6 to 18 years with self-reported weight status perceptions during the 2006 China Health and Nutrition Survey. Among these children, 863 had maternal estimation of child weight status. Descriptive and multiple regression analyses are conducted to find variations in the misperception of children's weight status.

Results: Among overweight children (n=176), 69% underestimated their weight status; 72% mothers of the overweight children (n=143) also underestimated their child's weight status. Less than one-quarter of overweight children and their mothers chose the correct classification of weight status. Multiple regression analyses showed that as children's body-mass-index (BMI)-for-age increased, the odds that mothers underestimated their weight status increased. Low maternal weight was significantly associated with maternal underestimation of child weight status but not with child's underassessment.

Conclusions: Underestimation of childhood overweight is common among both mothers and children in China, particularly for children with the highest BMI. School-based BMI reporting may be beneficial in alerting parents and children to the problem and encouraging communication with health care providers.

Key words: childhood obesity; Chinese; weight status

World J Pediatr 2012;8(2):129-135

Author Affiliations: Gazi University Medical School, Department of Pediatrics, Division of Neonatology, Ankara, Turkey (Onal EE, Hirfanoglu IM, Beken S, Altuntas N, Turkyilmaz C, Duyan Camurdan A, Turan O, Ergenekon E, Koc E, Atalay Y)

Corresponding Author: Esra E. Onal, MD, Gazi University Hospital, Department of Pediatrics, Besevler, Ankara, 06500, Turkey (Tel: 90-312-202-6573; Fax: 90-312 215-0143; Email: esraonal@gazi.edu.tr)

doi: 10.1007/s12519-011-0291-7

Background: Infants are considered large for gestational age (LGA) if their birth weight is greater than the 90th percentile for gestational age and they have an increased risk for adverse perinatal outcomes. Maternal diabetes is one of the factors affecting birthweight. However there are limited data on the perinatal outcomes of infants of gestational diabetic mothers. The aim of the present study was to compare the neonatal outcomes of LGA infants delivered by women with and without gestational diabetes mellitus.

Methods: This was a retrospective study of LGA infants of ≥36 weeks of gestation born at the Gazi University Medical School Hospital during the period of 2006-2009. Neonatal outcomes included hypoglycemia and polycythemia in the early neonatal period and hospital admissions. The Chi-square and Student's t test were used for comparing variables.

Results: Seven hundred eligible infant-mother pairs were enrolled in the study. Eighty-seven of them (12.4%) were infants of gestational diabetic mothers and 613 (87.6%) were infants of non-diabetic mothers. The incidence of hypoglycemia at the first hour was higher in infants of diabetic mothers (12.8%) than in infants of non-diabetic mothers (5.3%) (P=0.014). Polycythemia was also more frequently observed in infants of the gestational diabetic mothers (9.3%) than in infants of the non-diabetic mothers (3.0%) (P=0.010). Although overall hospital admission rates were not different between the two groups, infants of diabetic mothers were more likely to be admitted because of resistant hypoglycemia (P=0.045).

Conclusions: The results of this study suggested that LGA infants of mothers with gestational diabetes mellitus were at a greater risk for hypoglycemia and polycythemia in the early neonatal period than LGA infants of non-diabetic mothers.

Key words: gestational diabetes; large-for-gestational age infants; neonatal hypoglycemia; polycythemia

                   World J Pediatr 2012;8(2):136-139

Author Affiliations: Harbin Medical University, Center for Endemic Disease Control, China CDC, Harbin, China (Sun LY, Yuan LJ, Fu Y, Wang LH); Sichuan Provincial Center for Disease Control and Prevention, Chengdu, China (Deng JY)

Corresponding Author: Li-Hua Wang, Harbin Medical University, Center for Endemic Disease Control, China CDC, 157# Baojian Road, Nan'gang District, Harbin, China, 150081 (Tel: 86-451-87503095; Fax: 86-451-87503115; Email: lhwanganna@126.com)

doi: 10.1007/s12519-012-0351-7

Background: Kaschin-Beck disease (KBD), a special type of osteoarthritis, is a disabling degenerative disease and it can cause severe dysarthrosis of joints. This study was undertaken to investigate the prevalence of KBD among Tibetan children in the Aba Tibetan and Qiang Autonomous Prefecture in Sichuan Province and to provide evidence for KBD control in the western regions of China.

Methods: Eleven counties were selected as the monitoring regions and all Tibetan children aged 6-13 years were selected as the study subjects. A questionnaire survey and clinical and radiological examinations (right hand and wrist) were performed. KBD was diagnosed according to the Chinese Radiological Criteria of Kaschin-Beck Disease Diagnosis (GB16003-1995).

Results: X-ray analysis showed that all counties belonged to controlled endemic areas, and 4 of them were confirmed as active endemic areas for KBD. The overall detection rate of KBD in the Aba Tibetan and Qiang Autonomous Prefecture was 2.09% in 2007, 2.66% in 2008, and 1.20% in 2009. The majority of pediatric patients were found in Jinchuan and Markang counties.

Conclusions: Although the prevalence of KBD showed a decreasing trend in the Aba Tibetan and Qiang Autonomous Prefecture, some new pediatric cases are still emerging. Therefore, comprehensive measures should be taken to prevent the occurrence of the disease in children, and an effective preventive program should be set up in the prefecture.

Key words: epidemiological survey; incidence; Kaschin-Beck disease; pediatric; prevalence

                    World J Pediatr 2012;8(2):140-144

Author Affiliations: Zhejiang Provincial Center for Disease Control and Prevention, Hangzhou, China (Zou Y, Jin PG); Yiwu Women and Children's Hospital, Yiwu, Zhejiang Province, China (Jin HX, Wang RS); Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China (Li HF)

Corresponding Author: Pei-Gang Jin, Zhejiang Provincial Center for Disease Control and Prevention, Hangzhou 310051, China (Email: zouyan0573@sina.com)

doi: 10.1007/s12519-012-0352-6

Background: Many studies have shown an association between the risk of increased recurrent respiratory infections and socioeconomic and fostering factors, but often only a few risk factors have been studied. This study aimed to identify and compare such factors between urban and rural preschool children.

Methods: Case control studies were conducted in Yiwu urban and rural areas respectively in Zhejiang Province. A structured questionnaire was used to collect information on influencing factors such as socioeconomic factors, fostering factors, and housing conditions. The chi-square test was used to compare the distribution of some health related factors between urban and rural children. Risk factor analyses were also made in urban and rural children respectively. Univariate and multivariate analyses were made using the binary logistic regression.

Results: Multivariate analysis showed that maternal age (OR=0.94, 95%CI: 0.89-0.99), asthma (OR=2.34, 95%CI: 1.22-4.48), rickets (OR=5.03, 95%CI: 2.10-12.05), snack (OR=1.62, 95%CI: 1.19-2.20), traffic mode (OR=1.38, 95%CI: 1.03-1.86), living with patients with chronic respiratory system disease (OR=1.79, 95%CI: 1.02-3.15), and indoor passive smoking (OR=1.46, 95%CI: 1.02-2.10) were the influencing factors for recurrent respiratory infections in urban children. Rickets (OR=3.77, 95% CI: 1.13-12.65) and passive smoking (OR=2.33, 95% CI: 1.17-4.65) were the influencing factors for recurrent respiratory infections in rural children.

Conclusions: Public health measures against risk factors should be taken to prevent the occurrence of recurrent respiratory infections in urban and rural children respectively.

Key words: children; recurrent respiratory infection; risk factor; rural; urban

World J Pediatr 2012;8(2):145-150

Author Affiliations: Division of Pediatric Nephrology, The Second Xiangya Hospital, Central South University, 139 Middle Renmin Road, Changsha, Hunan 410011, China (Liu L, Chen D, Yi ZW, Liu XH, Wu XC, Dang XQ, He QN, He XJ, Mo SH)

Corresponding Author: Zhu-Wen Yi, Division of Pediatric Nephrology, The Second Xiangya Hospital, Central South University, 139 Middle Renmin Road, Changsha, Hunan 410011, China (Email: yizhuwen@yahoo.com.cn)

doi: 10.1007/s12519-012-0353-5

Background: The subcapsular transplantation of metanephric mesenchymal cells (MMCs) may be a new therapeutic approach for the treatment of acute tubular necrosis (ATN). To investigate this hypothesis and provide evidence for its possible use in the clinic, we evaluated the nephroprotective effects of transplanting MMCs into the renal subcaspsule of rats with ATN induced by gentamicin.

Methods: MMCs were expanded in culture. After gentamicin-induced ATN was established, fluorescently-labeled cells were transplanted and traced in kidney tissues by fluorescence microscopy. Serum creatinine (Cr), urea nitrogen (BUN), and N-acetyl-b-D-glucosaminidase (NAG) levels were determined at different time points. Kidney pathology was studied by hematoxylin-eosin staining. Apoptosis was examined by the TUNEL assay.

Results: In the MMCs-treated group, the mortality rate decreased; BUN, Cr, and NAG levels peaked at 8 days, and were significantly lower than those in the other groups at 11 and 14 days. RIMM-18 cells locally recruited through precise tropism to sites of injury had the ability to migrate into the tubuli from the renal subcapsule. Damage to the cell-treated kidneys was reduced. The pathologic lesion scores of tubular damage reached the highest values at 8 days in the treated kidneys and 11 days in the untreated ones. The apoptotic index showed that the peaks of apoptosis occurred at earlier stages of the injury process in cell-treated than in untreated kidney and thereafter declined in a time-dependent manner.

Conclusion: The subcapsular transplantation of MMCs could ameliorate renal function and repair kidney injury.

Key words: acute tubular necrosis; metanephric mesenchymal cells; subcapsular transplantation

World J Pediatr 2012;8(2):156-163

Author Affiliations: Division of Pediatric Nephrology, The Second Xiangya Hospital, Central South University, 139 Middle Renmin Road, Changsha, Hunan 410011, China (Liu L, Chen D, Yi ZW, Liu XH, Wu XC, Dang XQ, He QN, He XJ, Mo SH)

Corresponding Author: Zhu-Wen Yi, Division of Pediatric Nephrology, The Second Xiangya Hospital, Central South University, 139 Middle Renmin Road, Changsha, Hunan 410011, China (Email: yizhuwen@yahoo.com.cn)

doi: 10.1007/s12519-012-0353-5

Background: The subcapsular transplantation of metanephric mesenchymal cells (MMCs) may be a new therapeutic approach for the treatment of acute tubular necrosis (ATN). To investigate this hypothesis and provide evidence for its possible use in the clinic, we evaluated the nephroprotective effects of transplanting MMCs into the renal subcaspsule of rats with ATN induced by gentamicin.

Methods: MMCs were expanded in culture. After gentamicin-induced ATN was established, fluorescently-labeled cells were transplanted and traced in kidney tissues by fluorescence microscopy. Serum creatinine (Cr), urea nitrogen (BUN), and N-acetyl-b-D-glucosaminidase (NAG) levels were determined at different time points. Kidney pathology was studied by hematoxylin-eosin staining. Apoptosis was examined by the TUNEL assay.

Results: In the MMCs-treated group, the mortality rate decreased; BUN, Cr, and NAG levels peaked at 8 days, and were significantly lower than those in the other groups at 11 and 14 days. RIMM-18 cells locally recruited through precise tropism to sites of injury had the ability to migrate into the tubuli from the renal subcapsule. Damage to the cell-treated kidneys was reduced. The pathologic lesion scores of tubular damage reached the highest values at 8 days in the treated kidneys and 11 days in the untreated ones. The apoptotic index showed that the peaks of apoptosis occurred at earlier stages of the injury process in cell-treated than in untreated kidney and thereafter declined in a time-dependent manner.

Conclusion: The subcapsular transplantation of MMCs could ameliorate renal function and repair kidney injury.

Key words: acute tubular necrosis; metanephric mesenchymal cells; subcapsular transplantation

World J Pediatr 2012;8(2):156-163

Author Affiliations: Department of Pediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China (Hon KL, Wang SS, Wong WL,  Poon WK, Mak KY, Leung TF)

Corresponding Author: Dr. Kam-lun Ellis Hon, Department of Pediatrics, The Chinese University of Hong Kong, 6/F, Clinical Science Building, Prince of Wales Hospital, Shatin, Hong Kong, China (Tel: 852 2632 2859; Fax: 852 2636 0020; Email: ehon@hotmail.com/ehon@cuhk.edu.hk)

Background: Atopic eczema is a common and distressing disease. This study aimed to review the age-dependent pattern of atopic sensitization to food and aeroallergens in patients with eczema by skin prick testing.

Methods: The results of skin prick test (SPT), serum IgE, bronchial challenge test, and family history of atopy in eczema patients seen at a pediatric dermatology clinic were reviewed.

Results: SPT results were available in 816 eczema patients. In these patients, 90% had atopic sensitization to at least one aeroallergen, 69% to at least one food allergen, and 94% to at least one allergen by SPT. Together with a family history of atopy in parents or siblings and a personal history of airway atopies, 97% and 99.8% of the patients were atopic, respectively. Bronchial hyper-reactivity (BHR) was demonstrated in 44% of 339 patients. Aeroallergen was more prevalent than food allergen sensitization among children older than 10 years. The mites (D. pteronysissnus, D. farinae and Blomia Tropicalis) were the most prevalent allergens regardless of age and BHR, but D. pteronysissnus and D. farinae sensitization were more prevalent among BHR-positive patients. Beef is the least sensitized food protein in all ages.

Conclusions: The majority of patients with eczema are atopic to aeroallergens. The mites (D. pteronysissnus, D. farinae and Blomia Tropicalis) are the most prevalent allergens regardless of age and BHR.

Key words: aeroallergens; atopic dermatitis; eczema; food allergens; IgE; skin prick test

Author Affiliations: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea (Ko JM); Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea (Yang S, Hwang IT); Department of Pediatrics, Bundang Jeseang General Hospital, Seongnam, Korea (Kim SY); Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea (Lee HS, Hwang JS)

Corresponding Author: Il Tae Hwang, MD, PhD, Department of Pediatrics, Gangdong Sacred Heart Hospital, Gil-dong, Gangdong-gu, Seoul 134-701, Korea (Tel: 82-2-2224-2114; Email: ithwang83@hallym.or.kr)

doi: 10.1007/s12519-012-0355-3

Background: This study was undertaken to evaluate the association of the E23K polymorphism of KCNJ11 and type 1 diabetes in a Korean population.

Methods: Clinical variables from 70 Korean children with type 1 diabetes were analyzed. Patients' DNA was screened for the E23 locus in the KCNJ11 gene. Each genotype frequency and clinical characteristics according to the genotypes were compared between the patient and control groups.

Results: The genotype frequencies of the KCNJ11 E23 polymorphic locus in the patient group were 30.0% for EE, 44.3% for EK, and 25.7% for KK. We detected no differences in genotype frequencies between the patient and control groups. Additionally, in the patient group, no difference was detected in the clinical phenotypes among the three genotypes.

Conclusion: Although a rather small sample size constituted a limitation of this study, the association of the E23K polymorphism with type 1 diabetes was not statistically significant in the Korean population evaluated.

Key words: KCNJ11; type 1 diabetes; polymorphism; Kir6.2

                   World J Pediatr 2012;8(2):169-172

Author Affiliations: Department of Pediatric Surgery, Children's University Hospital, Inselspital, University of Bern, Switzerland (Berger S, Rufener J, Klimek P, Zachariou Z, Boillat C)

Corresponding Author: S Berger, MD, Department of Pediatric Surgery, Children's University Hospital, Inselspital, University of Bern, CH-3010 Bern, Switzerland (Tel: 0041-31-632-9274; Fax: 0041-31-632-9292; Email: steffen.berger@insel.ch)

doi: 10.1007/s12519-012-0356-2

Background: After resection of long-segment Hirschsprung's disease, severe perianal dermatitis (SPAD) may occur because of high stool frequency and elevated concentrations of fecal pancreatic proteases. We investigated prospectively the effect of potato-derived protease inhibitors (PPI) on skin conditions in children with postoperative SPAD.

Methods: Four children (aged 12 to 24 months) with therapy-resistant SPAD after transanal endorectal pull-through for long-segment Hirschsprung's disease received topical PPI (1% in 20% zinc ointment) with each diaper-change. Parents noted down a subjective dermatitis score daily. Photo documentation and outpatient visits were made to assess the treatment results.

Results: No adverse effects were observed after treatment with PPI. A remarkable improvement of the dermatitis in 3 of the 4 patients as well as improvements in pain and sleep disorders were observed during the PPI-treatment course.

Conclusion: The results of the study suggest that PPI may reduce otherwise intractable protease-induced skin irritation in infants.

Key words:  Hirschsprung's disease; perianal dermatitis; protease inhibitor; transanal endorectal pull-through

World J Pediatr 2012;8(2):173-176

Author Affiliations: Department of Pediatrics, University of California, San Francisco, California 94143, USA (Seeley HH); Department of Pediatrics, University of California, Davis, California 95616, USA (Loomba-Albrecht LA, Butani L); Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics, Weisswasser, Germany (Nagel M); Department of Pediatrics, Vanderbilt University, Nashville, Tennessee 37232, USA (Bremer AA)

Corresponding Author: Andrew A. Bremer, MD, PhD, Division of Endocrinology, Vanderbilt University School of Medicine, 11136 Doctors' Office Tower, 2200 Children's Way, Nashville, TN 37232-9170, USA (Tel: 615-936-1874; Fax: 615-875-7633; Email: andrew.a.bremer@vanderbilt.edu)

doi: 10.1007/s12519-011-0295-3

Background: This article summarizes the varying clinical manifestations of three siblings with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) caused by the same genetic lesion.

Methods: The medical records of three siblings with FHHNC (one girl and two boys, aged 6 to 12 years) were reviewed and the clinical manifestations and treatment of their disease were described.

Results: Despite varying phenotypes, each sibling had the same genetic lesion—a novel homozygous mutation in CLDN16 (c.211A>G, M71V).

Conclusion: Although FHHNC is a rare disorder, this report is significant for the following reasons: (i) it describes a novel CLDN16 mutation causing FHHNC, adding to the literature of FHHNC-causing CLDN16 mutations; (ii) it suggests that genes other than CLDN16 or epigenetic factors are involved in the clinical spectrum of FHHNC; and (iii) it reinforces the variability of disease manifestation and genotype-phenotype correlations.

Key words: claudin-16; hypomagnesemia; hypercalciuria; nephrocalcinosis; paracellin-1

Author Affiliations: Department of Pediatrics, Nagahama City Hospital, Nagahama, Shiga, Japan (Omoya K, Naiki Y, Yoshioka S, Uchida Y, Taga T); Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan (Omoya K, Kato Z, Kondo N); Center for Emerging Infectious Diseases (CEID), Gifu University, Japan (Kato Z, Kondo N); Center for Advanced Drug Research (CADR), Gifu University, Japan (Kato Z, Kondo N); Department of Dermatology, Nagahama City Hospital, Nagahama, Shiga, Japan (Aoki Y, Deguchi H)

Corresponding Author: Zenichiro Kato, MD, PhD, Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu 501-1194, Japan (Tel: +81 (58) 230 6386;  Fax: +81 (58) 230 6387; Email: zen-k@gifu-u.ac.jp)

doi: 10.1007/s12519-011-0308-2

Background: Sweet's syndrome (acute febrile neutrophilic dermatosis) is characterized by fever, polymorphonuclear leukocytosis of blood, painful plaques on the limbs, face and neck, and histologically a dense dermal infiltration with mature neutrophils. Sweet's syndrome is often a complication of hematologic malignant disease or drug-induced sensitivity reactions and has a significant susceptibility correlated with certain human leukocyte antigen (HLA).

Methods: A 5-week-old Japanese girl with Sweet's syndrome confirmed by skin biopsy was successfully treated and HLA analysis was performed.

Results: The patient was one of the youngest patients reported with Sweet's syndrome, suggesting the importance of the genetic background. Although the HLA types of the patient did not have B54, which was reported as a significant susceptibility correlation, structural analysis of the patient's HLAs suggested a similar possible motif for the bound peptides.

Conclusion: Studies on the HLA bound peptides and HLA structural analysis for patients with Sweet's syndrome would be valuable for understanding the molecular mechanism of the pathogenesis.

Key words: acute febrile neutrophilic dermatosis; human leukocyte antigen; infant; rectovaginal fistula; Sweet's syndrome

World J Pediatr 2012;8(2):181-184

Author Affiliations: Department of Pediatric Surgery, Trakya University Faculty of Medicine, Edirne, Turkey (Inan M, Basaran UN, Aksu B, Dortdogan Z, Dereli M)

Corresponding Author: Mustafa Inan, MD, Department of Pediatric Surgery, Trakya University Faculty of Medicine, 22030, Edirne, Turkey (Tel: +90 284 2357641; Fax: +90 284 2357652; Email: mustafainan@trakya.edu.tr)

doi: 10.1007/s12519-011-0313-5

Background: A Spigelian hernia (SH) is a ventral interstitial hernia through a defect in the Spigelian fascia; an undescended testis is sometimes associated with this clinical entity in male newborns. The etiopathogenesis, surgical anatomy, diagnostic methods, and treatment for this rare condition are discussed with a review of the literature.

Methods: A 20-day-old newborn was admitted to our hospital for a swelling in the right lower abdomen and undescended testis. Physical examination of the abdomen and scrotum revealed a congenital SH associated with cryptorchidism.

Results: Herniotomy, herniorrhaphy, and orchidopexy were performed. In the post-operative period, scrotal abscess occurred and was drained. After drainage, the fixed testis was found to be atrophic.

Conclusions: This association may be a distinct clinical syndrome. The operation time in cases of neonatal SH with undescended testis should be well planned because of probable surgical complications such as vascular damage, tension, or compression.

Key words: congenital Spigelian hernia; testicular atrophy; undescended testis     

World J Pediatr 2012;8(2):185-187