Background: The genetics of inflammatory bowel diseases (IBD) has brought new insight into the spectrum of disease phenotypes that are collectively labeled as either Crohn's disease or ulcerative colitis. In concert with the pharmacogenomics of drug therapy, it has led clinicians to develop the notion of a more tailored approach to therapy.

Data sources: Articles were searched from PubMed (1995-2010) with key words "inflammatory bowel diseases", "Genetics", "pharmacogenomics".

Results: Among all the putative susceptibility loci, the NOD2 gene has been the most studied and linked to an aggressive form of stricturing and perforating disease of the ileum. Other potential gene polymorphisms, including those encoding for the interleukin-23 receptor, have lent themselves to the recent development of potential novel immunosuppressive therapies. While the linkage of a number of autophagy genes with either Crohn's disease or ulcerative colitis has provided insight into the innate adaptive immune pathway's response to commensual intestinal bacteria. Pharmacogenetic polymorphisms of azathioprine metabolism have been shown to predict toxicity to anti-metabolite therapy. Patients with absent thiopurine methyl transferase enzyme activity are at risk for irreversible bone marrow suppression, and are not considered good candidates for either 6-mercaptopurine (6-MP) or azathioprine therapy.

Conclusions: Ultimately, the correlation between these genotypes and clinical phenotype of disease will inevitably lead to an improved understanding of disease natural history and a more tailored approach to therapy. Although there is ongoing debate as to whether these inherent differences in enzyme activity can predict responsiveness to anti-metabolite therapy, some gastroenterologists do find value in 6-MP metabolite testing as a means of monitoring patient compliance and tailoring the dose of anti-metabolite therapy based on a perceived therapeutic window. In the future, patients with IBD will ultimately be categorized based on their genomic imprint to allow for a better delineation of disease phenotype. Furthermore, the application pharmacogenomics of drug therapy into clinical practice will be pivotal in maximizing treatment response while avoiding untoward side-effects.

Key words: genetics; inflammatory bowel diseases; pharmacogenomics; 6-mercaptopurine metabolites

                    World J Pediatr 2010;6(3):203-209

Author Affiliations: Department of Paediatrics, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, New Delhi-110001, India (Mishra K, Basu S, Roychoudhury S, Kumar P)

Corresponding Author: Srikanta Basu, # 318, Ashirwad Enclave 105, I P Extension Patpargunj, New Delhi 110092, India (Tel: 0091-11-22238229/0091-9818291595; Fax: 0091-11-23365792; Email: srikantabasu@gmail.com)

doi:10.1007/s12519-010-0220-1

Background: Liver abscess (LA) in the pediatric population has become relatively uncommon in developed countries but it continues to have a high incidence among children in developing countries. This article aims to review the trends in all aspects of LA in children, both temporally and geographically.

Data sources: The PubMed and Google Scholar database were searched with the keywords "liver abscess", "children", "predisposing causes", "clinical signs and symptoms", "treatment" from 1975 to 2009 and all kinds of retrospective and prospective studies, reviews, case series were included.

Results: Pyogenic LA constitutes the majority of cases, followed by amebic and fungal LA. Staphylococcus aureus is the most common pathogen worldwide. Ultrasonography (US) and computed tomography (CT) are widely used as diagnostic tools. There are varying opinions regarding the treatment of LA in children. The general trend is towards less invasive modalities of treatment like percutaneous drainage along with antimicrobial drug therapy. However, in selected patients, open surgical drainage still plays an important role. The mortality rate for pyogenic LA has shown a decline from about 40% before the 1980s to less than 15% in the recent years. At the same time, the mortality rate of amebic LA cases reported to be around 11%-14% before 1984 has reduced to less than 1% at present.

Conclusions: Etiological pattern of LA in children has remained the same over the years, and in most regions, it is associated with Staphylococcus aureus and amebic LA is quite uncommon. US or CT scan is the most frequently employed diagnostic modality for LA, and follow-up is usually performed by serial US scans. Antimicrobial therapy along with, if necessary, drainage of the abscess by either percutaneous or open surgical route remains the treatment of choice.

Key words: children; clinical signs and symptoms; liver abscess; predisposing causes; treatment

          World J Pediatr 2010;6(3):210-216

Author Affiliations: Department of Pediatrics and Child Health, Lagos State University College of Medicine, PMB 21266, Ikeja, Lagos, Nigeria (Senbanjo IO); Pharmacology Department, Lagos State University College of Medicine, PMB 21266, Ikeja, Lagos, Nigeria & Academic Division of Child Health, Medical School (University of Nottingham), Derbyshire Children's Hospital, Uttoxeter Road, Derby DE22 3DT, UK (Oshikoya KA)

Corresponding Author: Idowu O. Senbanjo, FWACP, Department of Pediatrics & Child Health, Lagos State University College of Medicine, Ikeja, Lagos, Nigeria (Tel: (+234) 08067777363; Email: senbanjo001@yahoo.com)

doi:10.1007/s12519-010-0209-9

Background: Physical inactivity and sedentary lifestyles are known to predispose to overweight and obesity. These lifestyles are also known to track from childhood into adulthood with consequent cardiovascular and metabolic problems. This study aimed to describe the frequency of physical activity and the relationship between physical activity and body mass index of urban Nigerian school children and adolescents.

Methods: Children from seven schools in Abeokuta, southwest Nigeria were selected using a multi-staged random sampling technique.

Results: Of 570 children, 411 (72.1%) were involved in moderate to vigorous physical activities. Involvement in physical activity was higher in older children (P<0.001), males (P<0.001), and children of mothers with a higher educational level (P=0.03). Eleven (1.9%) children were overweight or obese whereas 163 (28.6%) were underweight. There were more children with underweight than overweight among the subject population with a high level of physical activity (35.6% vs. 4.4%, P=0.499).

Conclusions: A large proportion of the children in urban Nigeria participate in physical activity. The prevalence of overweight and obesity is low but undernutrition is a major nutritional problem among these children.

Key words: adolescents; body mass index; children; Nigeria; physical activity

                   World J Pediatr 2010;6(3):217-222

Background: For the first time, not only in Iran but also in the Eastern Mediterranean region, we report the prevalence of underweight and overweight among all children at school entry.

Methods: The current study was part of the national screening survey of all children at school entry that was conducted in all 31 provinces of Iran in 2007. Body mass index (BMI) cut-off points provided by the US Centers for Disease Control and Prevention were used.

Results: This cross-sectional national study was performed among 899 035 children (48.8% girls and 51.2% boys); 76.7% of them lived in urban areas. Overall, 12.7% of the children had a BMI below the age- and gender-specific 5th percentile, and with the highest prevalence in the southern provinces. In addition, 17.0% of the children had high BMI levels, i.e., 13.5% were overweight and 3.5% were obese, with the highest prevalence in the capital city as well as in the western and northwestern provinces.

Conclusions: Until a few years ago, childhood undernutrition has been the major nutritional problem in our community and still is the focus of nutritional policies and related medical education curriculum; however the higher prevalence of overweight other than underweight obtained in the current national survey is alarming and confirms the importance of considering childhood overweight as a health priority. This should be taken into account for all Middle Eastern countries that are expected to bear one of the world's greatest increases in the burden of chronic diseases notably diabetes in the next two decades.

Key words: Iran; overweight; pre-schoolers; underweight

                  World J Pediatr 2010;6(3):223-227

Background: The outcome of preterm neonates has been varied in different hospitals and regions in developing countries. This study aimed to determine the mortality, morbidity and survival of neonates weighing 1500 g or less and with gestational age of 30 weeks or less who were admitted to referral neonatal intensive care units (NICUs) of two hospitals in Isfahan city, Iran and to investigate the effect of birth weight, gestational age and Apgar score on infant mortality.

Methods: We studied retrospectively the morbidity, mortality and survival of 194 newborns with a birth weight of ≤1500 g and a gestational age of ≤30 weeks who had been hospitalized during a 15-month period in NICUs of the two referral hospitals. The Kaplan-Meier method was used to estimate the survival of the neonates. The survival was defined as the discharge of live infant from the hospital within 75 days.

Results: Overall, 125 (64.4%; 95%CI 58%-71%) of the 194 infants died during their hospital stay. The morbidity in this study was as follows: respiratory distress syndrome 76% (95%CI 70%-82%), septicemia 30.9% (95%CI 24%-37%), bronchopulmonary dysplasia 10.3% (95%CI 6%-15%), necrotizing enterocolitis 6.7% (95%CI 3%-10%), patent ductus arteriosus 12.4% (95%CI 8%-17%), intraventricular hemorrhage 7.2% (95%CI 4%-11%), and apnea 16.5% (95%CI 11%-22%). Packed cell transfusion was required in 43.3% (95%CI 36%-50%) of the neonates. The Kaplan Meier survival analysis revealed that 75% of the infants would live past 2 days, 50% after 14 days, and 25% after 69 days.

Conclusions: Even with modern perinatal technology and care, early deaths of very low birth weight infants are still common in our referral hospitals. The outcome of infants born at 24-28 weeks is unfavorable. The hospital level is an important factor affecting the mortality and morbidity of these infants.

World J Pediatr 2010;6(3):228-232

Background: Iodine deficiency disorder (IDD) or goiter is the cause of preventable brain damage, mental  retardation, and stunted growth and development in children. This study aimed to detect the prevalence of IDD in Rajkot district, India by testing urinary iodine excretion levels and iodine salt intake of school children.

Methods: A cross-sectional study was conducted in 2940 school children of both sexes aged 6-12 years from 14 talukas subdivisions of the district. Thirty clusters were selected by using cluster sampling technique. Goiter was assessed in all the studied children along with biochemical analysis of iodine in 420 urine samples and iodine content in 840 edible salt samples in the studied area.

Results: Goiter was reported from all talukas subdivisions of the studied area. Goiter prevalence ranged from 1% to 35%, and the overall prevalence was 8.8% (grade 1: 7.6%; grade 2: 1.2%), indicating a mild public health problem. In the study areas, 18.1% of the population showed a level of urinary iodine excretion <50 µg/L. The median level of urinary iodine in the studied areas was 110 µg/L (range 10-415 µg/L). The iodine level of more than 15 ppm was found in 81% of salt samples tested at the household level.

Conclusion: There is mild goiter prevalence in primary school children of Rajkot district, which is due to the inadequate iodine intake or content from salt at the household level.

Key words: goiter survey; household level; iodine deficiency disorder; prevalence; primary school children

Background: Physical exercise has been proven to be beneficial to children with asthma, but the traditional view in China is that asthmatic children should not take part in sports. This study was undertaken to investigate the current status of children with asthma taking part in exercise in China.

Methods: One hundred and twenty-three asthmatic children (7-14 years old) who had visited our asthma control center between February 2009 and June 2009 were enrolled in this cross-sectional study. Each child had a pulmonary function test and his/her health-related quality of life was assessed. The children also finished a questionnaire about their physical activity. As a control group, 109 non-asthmatic children from a primary school were surveyed about their level of activity.

Results: Asthmatic children took part in less exercise than their healthy peers, and 62.6% (77/123) of the children with asthma never reached the criteria of exercise prescription for patients with asthma advised by the American College of Sports Medicine. The asthmatic children were divided into two groups based on the level of activity; compared with the group with a higher physical activity level, more children in the group with lower activity believed that exercise could make asthma worse, more parents and teachers restricted the children's exercise, and fewer doctors approved them participating in exercise. All of the parameters of basic lung function were higher in the group with higher activity level. Moreover, the children with a higher exercise level had a higher score on all parts of the pediatric asthma quality-of-life questionnaire. About 78.5% (96/123) of children ever experienced coughing, chest distress, dyspnea, or gasping during exercise, but 49.6% (61/123) had these symptoms occasionally.

Conclusions: Our study reveals that children with asthma do not have enough exercise in China. The concept that children, parents, teachers and doctors have about exercise for patients with asthma is urgent to be updated. We need to prescribe appropriate exercise for children with asthma.

Key words: asthma; physical activity; quality of life

                    World J Pediatr 2010;6(3):238-243

Background: Focal segmental glomerulosclerosis (FSGS) is a component of childhood nephrotic syndrome occurring in 10%-20% of all cases. Over time, 25%-50% of children with FSGS develop kidney failure disease. We followed a cohort of children with FSGS in order to delineate the risk profile of progression to kidney failure (KF).

Methods: We evaluated patient data collected from 1977 to 2002 at a regional mid-Atlantic nephrology center in the United States. KF was defined primarily for those patients whose serum creatinine (SCr) value doubled compared with the SCr value from a previous visit. Patients who received dialysis or a kidney transplant were also defined as having KF. We analyzed patient data for those who had at least two visits with SCr values recorded. Various baseline characteristics of patients who had developed KF and those with no kidney failure (NKF) were compared. Hazard ratios and correlation were used to further investigate potential risk factors of the kidney failure. We also compared the inverse SCr trend for KF and NKF patients using weighted linear regression.

Results: Thirty-four of 43 FSGS patients had adequate follow-up data. About 60% of the patients developed KF over the study period. The average age of the KF patients at diagnosis of FSGS was 9 years, and that of NKF patients 12 years (P=0.05). FSGS patients with KF had a significantly higher mean diastolic blood pressure (DBP) at baseline, compared to those with NKF (P<0.0001). Other baseline characteristics including race, body mass index (BMI), systolic blood pressure, total cholesterol, urinary protein/creatinine ratio and calculated glomerular filtration rate (cGFR) were not significantly different. Baseline DBP was a significant risk factor in progression to KF (HR: 1.03; 95%CI: 1.01-1.06). Inverse SCr values were significantly decreased over time in KF patients (P=0.01).

Conclusions:  The data of this study indicate that children diagnosed with FSGS who are younger than 10 years and have elevated baseline DBP are more likely to develop kidney failure. The non-significant hazard ratios for other baseline characteristics including gender, race, and BMI are not instrumental risk factors. These results may help understand what may affect progression towards kidney failure in children with FSGS.

Key words: blood pressure; focal segmental glomerulosclerosis; gender; predictors of progression; risk profile     

                    World J Pediatr 2010;6(3):244-248

Background: The maternal-fetal infection/inflam-mation is believed to be the mechanism in the patho-genesis of periventricular leukomalacia (PVL). The activation of microglias (MGs) may contribute to preoligodendroglial damage. The present study was undertaken to explore the effect of N-[3-(aminomethyl) benzyl] acetamidine (1400W), a selective inhibitor of inducible nitric oxide synthase (iNOS), on the blockage of lipopolysaccharide (LPS)-induced microglial toxicity to preoligodendrocytes (preOLs).

Methods: The co-cultural MGs and preOLs obtained from two-day-old Sprague-Dawley (SD) neonatal rats were divided into three groups: co-culture control group, co-culture LPS group, and co-culture LPS plus 1400W group. The concentration of nitric oxide (NO) was measured by nitric acid-deoxidize-colorimetry, the level of peroxynitrite (ONOO^–) determined by immunocytochemistry, the synthetic level of inducible nitric oxide synthase (iNOS) detected by western blotting, and the apoptotic rate of preOLs assessed by flow cytometry after the co-cultural cells were induced by LPS (100 ng/ml) for 48 hours.

Results: Compared with those in the co-culture control group, the levels of NO (82.27±3.41 μmol/L vs. 167.86±9.87 μmol/L, P<0.01), ONOO^– (6.14±1.27 vs. 34.38±7.75, P<0.01), and iNOS (0.18±0.027 vs. 0.79±0.068, P<0.01) induced by LPS increased remarkably in the co-culture LPS group, with a higher apoptotic rate of preOLs (6.73±1.39% vs. 24.77±2.05%, P<0.01). The levels of NO (69.55±5.07 µmol/L, P<0.01), ONOO^– (10.33±3.47, P<0.01) and iNOS (0.35±0.042, P<0.01) were decreased significantly using 1400W at a dose of 10 µmol/L in the co-culture LPS plus 1400W group, and the apoptotic rate of preOLs (11.80±2.06% vs. 24.77±2.05%, P<0.01) also decreased compared with the co-culture LPS group.

Conclusion: 1400W can block effectively the LPS-induced microglial toxicity to preOLs by inhibiting iNOS specifically, resulting in a significant reduction of toxicity parameters investigated and a marked increase of the survival preOLs.

Key words: N-[3-(aminomethyl) benzyl] acetamidine; inducible nitric oxide synthase; nitric oxide; peroxynitrite; preoligodendrocyte

                   World J Pediatr 2010;6(3):249-254

Author Affiliations: Department of Pathology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China (Wang J, Xi ZJ); Department of Orthopedics, Shanghai Yangpu Central Hospital, Shanghai 200090, China (Wu X)

Corresponding Author: Zheng-Jun Xi, Department of Pathology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China (Tel: 86-21-65790000; Email: xizhengjun@gmail.com)

doi:10.1007/s12519-010-0205-0

Background: Langerhans cell histiocytosis (LCH) is a rare disease that is characterized by abnormal proliferation of pathological Langerhans cells (LCs). In this study, a total of 108 pediatric patients with LCH of bone were evaluated retrospectively for illustrating the clinicopathologic features of this disease, with a goal of improving the diagnosis, treatment, and prognosis.

Methods: A retrospective study was based on the clinical records and pathological data of 108 patients (13 days to 12 years of age) with LCH of bone from a single hospital. Hematoxylin-eosin stain and immunohistochemical stain were applied. The follow-up was conducted to June 2008.

Results: The peak age of the patients ranged between 3 years and 6 years (80.6%, 87/108), and male gender predominated. The most common clinical presentation was local pain, and the imaging findings commonly showed an isolated lytic lesion in the bone. Of the 108 patients, 79 (73.1%) had single bone involvement, 27 (25.0%) had multi-bone involvement (with or without related skin involvement), and 2 (1.8%) had multi-system involvement. Histologically, all the lesions revealed abnormal proliferation of pathological Langerhans cells along with an admixture of eosinophils, lymphocytes, and other inflammatory cells. The LCs have similar shape and are positive for cluster of differentiation 1a (CD1a) (100.0%, 60/60), S100 (90.0%, 54/60), CD68 (41.7%, 25/60), lysozyme (Lys) (40.0%, 24/60), and macrophage antigen compound (MAC) 387 (30.0%, 18/60); cytokeratin (CK) and epithelial membrane antigen (EMA) were negative. The overall survival rate was 98.0% at a median follow-up of 5 years.

Conclusions: LCH of bone in children is predominant in males and usually shows as an isolated lytic lesion. Histologically, the lesions reveal abnormal proliferation of pathological Langerhans cells, admixed with various types of inflammatory cells. The patients have a good prognosis, except those with multi-system involvement.

Key words: bone; clinicopathological study; Langerhans cell histiocytosis

World J Pediatr 2010;6(3):255-259

Corresponding Author: Jia-Wen Li, Department of Dermatology, Affiliated Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China (Tel:+86-27-85726157; Email:chenyu855@126.com)

doi:10.1007/s12519-010-0213-0

Background: Childhood psoriasis is common, but it has not been adequately reported in China. This study was undertaken to evaluate the epidemiological and clinical findings in children with psoriasis treated in a 9-year period and to compare the data with those from other studies.

Methods: The data were from 137 children (≤14 years old) with psoriasis registered in two tertiary hospitals in Wuhan, China between January 2000 and December 2008. They were retrospectively studied.

Results: Of the 137 patients, aged between 3 and 14 years, 64 were males (46.7%) and 73 females (53.3%). Eleven patients (8%) had a family history of psoriasis. Infection was the most common precipitating factor (39, 28.5%). Seasonal influence was found in 57 patients (41.6%). Exacerbations in winter and spring were noted in 29 and 16 patients respectively. Plaque psoriasis was the most common type (72 patients, 52.6%), followed by guttate psoriasis (35, 25.5%), psoriasis pustulosa (15, 10.9%), and psoriasis erythroderma (7, 5.1%). The scalp was the most common initial site affected (69, 50.3%). Nail changes were found in 35 patients (25.5%), but no mucosal involvements were observed. Five patients had arthralgia and two showed abnormal X-ray appearance. Most of the affected children had pruritus. The co-morbidities of childhood psoriasis included allergic contact dermatitis (31, 22.6%), eczema (6, 4.3%), vitiligo (5, 3.6%), and alopecia areata (3, 2.2%). Psoriasis was sometimes misdiagnosed as dermatitis seborrheica (11, 8.0%), neurodermatitis (9, 6.6%) and balanitis (7, 5.1%). Some patients were treated with steroids, but there were obvious side-effects after long-term administration. Thiamphenicol was effective in the treatment of refractory psoriasis pustulosa in children.

Conclusions: Our findings differ from those of previous studies, showing a lower rate of family history and a higher incidence of severe psoriasis. Differential diagnosis should be made especially when lesions occur at the scalp, elbow or balanus. Allergic contact dermatitis takes place more frequently in children with psoriasis than in normal children. Systemic corticosteroids should not be routinely used and other safer and more effective treatments are needed for severe cases.

Key words: childhood psoriasis; outcome; steroid

                   World J Pediatr 2010;6(3):260-264

Background: Vitamin D and calcium deficiency is common in pregnant women and newborn infants. There are few data about the prevalence of hypovitaminosis D during pregnancy and infancy in China. We assessed vitamin D status of pregnant women and their neonates in Chengdu, Sichuan province, China.

Methods: Maternal serum and cord blood levels of calcium, 25-hydroxyvitamin D [25(OH)D], alkaline phosphatase, and parathyroid hormone (PTH) were studied in 77 urban and rural mother-neonate pairs at term.

Results: The mean level of maternal serum 25(OH)D was 35.95±19.7 nmol/L, and that of cord blood 25(OH)D was 40.98±18.89 nmol/L. The intake of calcium and vitamin D was uniformly low, although it was higher in urban (1010±450 mg/d, 237±169 IU/d) than in rural (320±210 mg/d, 62±66 IU/d) women. Maternal serum 25(OH)D was correlated positively with cord blood 25(OH)D (r=0.94, P<0.01).

Conclusions: There is a high prevalence of vitamin D and calcium insufficiency in pregnant women and neonates in Chengdu even when mothers are compliant with prenatal vitamin supplementation. Supplementation is needed to improve maternal and neonatal vitamin D and calcium nutrition.

Key words: dietary calcium; newborn; parathyroid hormone; pregnancy; vitamin D

                    World J Pediatr 2010;6(3):265-267

Methods: A total of 100 children, aged 0-4 years with cyanotic (35) and acyanotic (65) heart diseases who had undergone cardiac surgery with ECC, were subjected to neuropsychological and behavioral evaluation using the Gesell Developmental Schedule (GDS) before operation and at 1 week, and 1, 3 and 6 months after operation.

Results: The GDS scores in the first postoperative week were significantly lower than those before operation, but the scores increased gradually (P<0.01). ECC affected the GDS scores after operation, with the cyanotic children being more significantly affected than the acyanotic children. The GDS scores were negatively correlated with the age at each time point. The GDS scores were significantly lower in the cyanotic children than in the acyanotic children at 1 and 3 months postoperatively (P<0.01), but there was no significant difference at 6 months (P<0.05).

Conclusions: After cardiac surgery with ECC, the younger the children who have cardiac surgery, the more significantly the GDS score increases. The ECC mainly affects the cognitive ability and academic performance in cyanotic children in one month postoperatively.

Key words: behavior; congenital heart disease; extracorporeal circulation; neuropsychology

                   World J Pediatr 2010;6(3):268-270

Background: This study was undertaken to assess the effect of antegrade placement of internal double-J catheters for patients who underwent open pyeloplasty for ureteropelvic junction (UPJ) obstruction.

Methods: Medical records of unilateral dismembered pyeloplasties of 71 patients with UPJ obstruction treated between 1998 and 2008 were reviewed retrospectively. In all patients, a double-J catheter was placed in an antegrade fashion during the operation. The patients were reviewed in terms of age, sex, postoperative complications and length of hospital stay

Results: All children but one using double-J catheter were discharged within 24 hours after the operation. Neither urinary leak nor re-obstruction occurred in the operated kidneys during a follow-up.

Conclusion: Transanastomotic stenting with double-J catheter is recommended as the reasonable mode of drainage in open pyeloplasty in pediatric patients.

Key words: double-J catheter; pyeloplasty; ureteropelvic junction

                  World J Pediatr 2010;6(3):271-273

Methods: A 3080 g full-term female infant was born with a GO. The skin was dissected from the fascia circumferentially without opening the amniotic sac and the peritoneum. Subsequently, two polypropylene meshes of 10 × 10 cm in diameter were sutured to each other. Inner surface of the mesh silo was covered with sterile incision drape. This texture was sutured to the fascial margin. Then, the skin was sutured to the mesh and the silo was closed from the side and above. On the 4th day the reduction was started using thick sutures without anesthesia. This procedure was repeated on every 3rd day. When it came closer to the skin margins, constriction was performed using right angle clamps, each time placed 2 cm proximally to the previous sutures in a circular manner. Silo was removed easily and the skin, subcutaneous layers, and fascia were then approximated on the 42nd day.

Results: The postoperative course was uneventful and the infant was well with left inguinal hernia repaired in the 3rd month.

Conclusion: The method we used can be performed at bedside and without the application of anesthesia, but should be tried on more patients to determine its effect.

Key words: giant omphalocele; newborn; treatment

World J Pediatr 2010;6(3):274-277

Author Affiliations: Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China (Li FB, Chen J, Yu JD); Center for Genetic & Genomic Medicine, Zhejiang University, Hangzhou 310058, China (Gao H, Qi M); Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA (Qi M)

Corresponding Author: Ming Qi, Center for Genetic & Genomic Medicine, Zhejiang University, Hangzhou 310058, China (Tel: +86-571-87061007; Fax: +86-571-87033296; Email: ming_qi@urmc.rochester.edu)

doi:10.1007/s12519-010-0226-8

Background: Alagille syndrome (AGS) is a rare or fatal disease affecting multiple systems including the liver, heart, eyes, skeleton and face. It has been considered a genetically heterogeneous disorder of the Notch signaling pathway.

Methods: A 28-month-old Chinese girl with congenital heart disease and jaundice was diagnosed with Alagille syndrome by liver biopsy showing a paucity of the intrahepatic bile ducts. Variants of the JAG1 gene were detected by DNA sequencing in the patient and her unaffected father.

Results: A heterozygous missense mutation was identified in exon 2 of the JAG1 gene in the proband but not in exon 2, 4, 6, 9, 17, 23, 24 by DNA sequencing in her father. The mutation G→T change was seen at position 133 in the cDNA sequence (c.133 G→T), causing a substitution of a leucine for a valine (V45L) residue in the N terminus between signal peptide and DSL domain of the Notch ligand. This mutation, however, was absent in her father.

Conclusion: Genes in the Notch signaling pathway should be further studied in AGS, and used to confirm clinical or prenatal diagnosis and facilitate genetic counseling.

Key words: Alagille syndrome; mutation; Notch2 receptor

World J Pediatr 2010;6(3):278-280