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Vol 12, No 4
Vol 12, No 4 November 2016 ISSN 1708-8569
 
Review articles
Meta-analysis
Original articles
Case reports
Clinical image
Correspondence
   
Review articles:
Non-pharmacological management of abdominal pain-related functional gastrointestinal disorders in children
  Siba Prosad Paul, Dharamveer Basude
 
Background:
Abdominal pain-related functional gastrointestinal disorder (AP-FGID) comprises of 4 main conditions: functional dyspepsia, irritable bowel syndrome, abdominal migraine and functional abdominal pain. AP-FGIDs are diagnosed clinically based on the Rome IV criteria for FGIDs of childhood. There is limited evidence for pharmacological therapies.
Data sources:
This review article discusses nonpharmacological management of AP-FGID based on the current literature including systematic reviews, randomized controlled trials, cohort and case control studies. We aim to provide a comprehensive overview on the available evidence for the pediatricians and pediatric gastroenterologists involved in managing children with AP-FGID.
Results:
Managing AP-FGIDs can be challenging. This should follow a stepwise approach with focused history, identification of ¡°red flag¡± signs and symptoms, physical examination and investigations done following initial consultation. Family needs explaining that there is nothing seriously wrong with the child¡¯s abdomen. This explanation and reassurance can achieve symptom control in large number of cases. Non-pharmacological interventions are delivered through lifestyle and dietary changes and bio-psychosocial therapies. Dietary interventions vary depending on the type of AP-FGID. Bio-psychosocial therapies such as hypnotherapy, cognitive behavioral therapy and yoga aim at stress reduction.
Conclusion:
There is increasing evidence for use of non-pharmacological interventions in children with APFGID.
 
Key words: abdominal pain; behavioral intervention; diet; gastrointestinal diseases; hypnosis; Rome IV criteria
  [Abstract] [Full Text] [PDF]  
Efficacy and safety of itraconazole use in infants
  Shuang Chen, Kai-Yi Sun, Xiao-Wei Feng, Xin Ran, Jebina Lama, Yu-Ping Ran
 
Background:
Itraconazole has been used to treat fungal infections, in particular invasive fungal infections in infants or neonates in many countries.
Data sources:
Literature search was conducted through Ovid EMBASE, PubMed, ISI Web of Science, CNKI and Google scholarship using the following key words: ¡°pediatric¡± or ¡°infant¡± or ¡°neonate¡± and ¡°fungal infection¡± in combination with ¡°itraconazole¡±. Based on the literature and our clinical experience, we outline the administration of itraconazole in infants in order to develop evidence-based pharmacotherapy.
Results:
Of 45 articles on the use of itraconazole in infancy, 13 are related to superficial fungal infections including tinea capitis, sporotrichosis, mucosal fungal infections and opportunistic infections. The other 32 articles are related to systemic fungal infections including candidiasis, aspergillosis, histoplasmosis, zygomycosis, trichosporonosis and opportunistic infections as caused by Myceliophthora thermophila.
Conclusions:
Itraconazole is safe and effective at a dose of 5 mg/kg per day in a short duration of therapy for superficial fungal infections and 10 mg/kg per day for systemic fungal infections in infants. With a good compliance, it is cost-effective in treating infantile fungal infections. The profiles of adverse events induced by itraconazole in infants are similar to those in adults and children.
 
Key words: infant; itraconazole; prophylaxis; superficial fungal infections; systemic fungal infections
  [Abstract] [Full Text] [PDF]  
Meta-analysis:
Feasibility and efficacy of gentamicin for treating neonatal
  Nishant Jaiswal, Meenu Singh, Ritika Kondel, Navjot Kaur, Kiran K Thumburu, Ajay Kumar,
 
Background:
Neonatal sepsis is a leading cause of neonatal deaths in developing countries. The current recommended in-hospital treatment is parenteral ampicillin (or penicillin) and gentamicin in young infants for 10-14 days; however, very few could access and afford. The current review is to evaluate the feasibility of gentamicin in community based settings.
Both observational and randomized controlled trials were included. Medline, Embase, Cochrane Central Register of Controlled Trials and Central Trial Register of India were searched until September 2013. We assessed the risk of bias by Cochrane Collaboration¡¯s "risk of bias" tool.
Results:
Two observational studies indicated feasibility ensuring coverage of population, decrease in case fatality rate in the group treated by community health workers. In an RCT, no significant difference was observed in the treatment failure rates [odds ratio (OR)=0.88], and the mortality in the first and second week (OR=1.53; OR=2.24) between gentamicin and ceftriaxone groups. Within the gentamicin group, the combination of penicillin and gentamicin showed a lower rate of treatment failure (OR=0.44) and mortality at second week of life (OR=0.17) as compared to the combination of gentamicin and oral cotrimoxazole.
Conclusions:
Gentamicin for the treatment of neonatal sepsis is both feasible and effective in community-based settings and can be used as an alternative to the hospitalbased care in resource compromised settings. But there was less evidence in the management of neonatal sepsis in hospitals as was seen in this review in which we included only one RCT and three observational studies.
 
Key words: gentamicin; neonatal sepsis; neonates
  [Abstract] [Full Text] [PDF]  
Original articles:
Modified stool color card with digital images was efficient
  Yuan-Yuan Kong, Jin-Qi Zhao, Jie Wang, Lei Qiu, Hai-He Yang, Mei Diao, Long Li, Yan-
 
Background:
The aim of this pilot study in Beijing, China, was to validate a screening system for early detection of biliary atresia (BA) by using a modified version of the stool color card (SCC).
From 2013 to 2014, a total of 29 799 live born infants were screened. SCC was distributed in maternal facilities. Guardians were asked to check their infants¡¯ stool colors daily using SCC up until four months after birth. The screening results among 92.5% of participants were reported. Cases deemed as high risk were referred to a surgical department immediately.
Results:
Based on the results reported by the guardians, 24 infants showed pale-pigmented stools, of which two males without obvious signs of jaundice were diagnosed with BA at 52 and 55 days of age, respectively. The sensitivity was 100% and specificity was 99.9%. Four infants were confirmed as having other diseases. Two female patients failed to be screened by the SCC because they had severe jaundice and were referred to the Neonatal Intensive Care Unit after birth. They were diagnosed as BA at 14 and 17 days after birth, respectively. The overall prevalence of BA in this study was 1.3 in 10 000 live births.
Conclusion:
The modified SCC was effective and feasible for early detection of BA, especially for patients with no apparent jaundice.
 
Key words: early detection; jaundice; Kasai procedure; sensitivity; specificity
  [Abstract] [Full Text] [PDF]  
The role of exclusive enteral nutrition in the management
  Mohamed Mutalib, Khaled Bezanti, Mamoun Elawad, Fevronia Kiparissi
 
Background:
Orofacial granulomatosis (OFG) is a term used to describe a persistent, painless swelling of lips and orofacial region. It can be associated with ulceration, gingival hypertrophy and cobble stone appearance of the buccal mucosa. OFG is commonly associated with Crohn¡¯s disease and can precede the intestinal manifestation of the disease. Exclusive enteral nutrition (EEN) is a recognized treatment for induction of remission for Crohn¡¯s disease. The aim of this study was to review the use of EEN in the management of OFG in children.
Retrospective review of medical records of all children diagnosed with OFG between 2007 and 2012 was conducted. Presence of comorbidities, progression to inflammatory bowel disease (IBD) and response to EEN was evaluated.
Results:
Twenty-nine children were included, mean age at diagnosis was 9 years (standard deviation 3.9) years. Ten children had isolated OFG and 19 had OFG and IBD, of which 12 presented with OFG and IBD and 7 developed IBD later. Median time to progression to IBD was 33 months (inter quartile range: 9.8-85.5). Twenty-two children completed 6 weeks of EEN, and 19 showed clinical improvement in the OFG appearance.
Conclusion:
EEN appears to be an effective treatment option for children with isolated OFG or OFG and IBD.
 
Key words: gastroenterology; inflammatory bowel disease; inflammation; orofacial granulomatosis
  [Abstract] [Full Text] [PDF]  
Probiotics prophylaxis in pyelonephritis infants with
  Seung Joo Lee, Jihae Cha, Jung Won Lee
 
Background:
Pyelonephritis in infants is considered as a major factor for the formation of renal scar. To prevent recurrent pyelonephritis and renal damage, prophylaxis is extremely important. The aim of this study was to compare the effectiveness of probiotic and antibiotic prophylaxis or no-prophylaxis in infants with pyelonephritis and normal urinary tract.
Altogether 191 infants, who were diagnosed with acute pyelonephritis, proven to have normal urinary tracts and followed up for 6 months on prophylaxis, were retrospectively evaluated. According to the types of prophylaxis, the infants were divided into three groups [probiotics (Lactobacillus species), antibiotics (trimethoprim/sulfamethoxazole, TMP/SMX), and noprophylaxis]. The incidence of recurrent urinary tract infection (UTI) during 6 months after the development of pyelonephritis, main causative uropathogens, and its antimicrobial sensitivities were compared.
Results:
The incidence of recurrent UTI in the probiotic group was 8.2%, which was significantly lower than 20.6% in the no-prophylaxis group (P=0.035) and was not significantly different from 10.0% of the antibiotic group (P=0.532). The significant difference between the probiotic and no-prophylaxis groups was seen only in male infants (P=0.032). The main causative organism of recurrent UTI was Escherichia coli (E.coli), which was not different among the three groups (P=0.305). The resistance rate of E. coli to TMP/SMX was 100% in the antibiotic group, which was significantly higher than 25.0% in the probiotic group and 41.7% in the no-prophylaxis group (P=0.008).
Conclusions:
Probiotic prophylaxis was more effective in infants with pyelonephritis and normal urinary tract than in those with no-prophylaxis. It could be used as a natural alternative to antibiotic prophylaxis.
 
Key words: antibiotic prophylaxis; antibiotic resistance; probiotic prophylaxis; pyelonephritis
  [Abstract] [Full Text] [PDF]  
Profi les of HIV-infected anti-retroviral therapy naïve
  Supriya Mayur Paranjpe, Purva Pankaj Sarkate, Nayana Avinash Ingole, Shweta Sadanand
 
Background:
This study aimed to investigate the demographic profiles of human immunodifficiency virus (HIV) infected anti-retroviral therapy (ART) naïve children in our hospital and their relations to the clinical, immunological and nutritional status.
A cross-sectional study was conducted in an Integrated Counselling and Testing Center (ICTC) at a tertiary care hospital in Mumbai. ART naïve HIV positive children were enrolled in the study. The demographic profiles, clinical features, immunological (CD4%/CD4 count) and nutritional status of these children were recorded. The agreement between clinical, immunological and nutritional staging was determined using Cohen¡¯s kappa test.
Results:
In 192 HIV-infected ART naive children enrolled with a median age of 9 years (range 3 months-14 years), 97.4% acquired infection through vertical transmission. The most common clinical presentation was fever (39.6%), followed by generalized lymphadenopathy (32.3%), cough (22.4%) and diarrhoea (9.9%). Tuberculosis was seen in 22.9% of the children. The agreement was fair between clinical and immunological staging, and slight between nutritional, immunological and clinical staging.
Conclusions:
Perinatal transmission is the most common mode of acquiring HIV infection in children. The Prevention of Parent to Child Transmission (PPTCT) program should be strengthened for lowering the transmission rate by providing extended ART to mothers during pregnancy and breast-feeding. Tuberculosis remains a major concern in HIV-infected children. The poor correlation between WHO clinical and immunological staging emphasizes the importance of making CD4 facilities available in HIV prevalent areas. Malnutrition cannot be used as a surrogate marker for predicting stage or severity as it is common at all stages of HIV disease.
 
Key words: anti-retroviral therapy; CD4 count; clinical stage; HIV; nutritional status
  [Abstract] [Full Text] [PDF]  
Effect of gluten free diet on gastrointestinal and behavioral
  Faezeh Ghalichi, Jamal Ghaemmaghami, Ayyoub Malek, Alireza Ostadrahimi
 
Background:
Genetic and environmental factors are both responsible for the etiology of autism spectrum disorders (ASD). Although epidemiological studies have been conducted to clarify the association between restriction diets and ASD, the conclusion remains unclear. This study was undertaken to investigate the effect of gluten free diet (GFD) on gastrointestinal symptoms and behavioral indices in children with ASD.
In this randomized clinical trial, 80 children diagnosed with ASD by the Autism Diagnostic Interview-Revised (ADI-R) were assigned into GFD (n=40) and regular diet (RD) (n=40) groups for 6 weeks. At the beginning and end of the intervention, the ROME §º questionnaire for evaluating gastrointestinal symptoms and Gilliam Autism Rating Scale 2 questionnaire (GARS-2) for assessing psychometric properties were completed.
Results:
Of the 80 children, 53.9% had gastrointestinal abnormalities. In the GFD group, the prevalence of gastrointestinal symptoms decreased significantly (P<0.05) after intake of GFD (40.57% vs. 17.10%) but increased insignificantly in the RD group (42.45% vs. 44.05%). GFD intervention resulted in a significant decrease in behavioral disorders (80.03¡À14.07 vs. 75.82¡À15.37, P<0.05) but an insignificant increase in the RD group (79.92¡À15.49 vs. 80.92¡À16.24).
Conclusion:
This study suggested that GFD may be effective in controlling gastrointestinal symptoms and ASD behaviors.
 
Key words: autism; behavior disorders/problems; gastrointestinal system; gluten free diet
  [Abstract] [Full Text] [PDF]  
Prescription trends in children with pervasive developmental
  Michihiro Satoh, Taku Obara, Hidekazu Nishigori, Nobuhiro Ooba, Yoshihiko Morikawa,
 
Background:
The only drug approved for pervasive developmental disorders (PDD) in Japan is pimozide. Several psychotropic drugs are also prescribed for offlabel use in Japan, but details regarding their prescription and use are largely unknown. The purpose of this study was to clarify the use of drug treatment in Japanese children with PDD.
Data were extracted from claims data from the Japan Medical Data Center for children younger than 18 years of age who were newly diagnosed with PDD (International Classification of Diseases version 10 codes: F84) from 2005 to 2010 (total of 3276 patients as of 2010). The prescription rates were presented as the percentage of PDD patients who were prescribed each drug.
Results:
Prior to 2010, the prescription rates for atypical antipsychotics, other antipsychotics, psychostimulants, all other central nervous system drugs, anticovnvulsants, non-barbiturates, and Parkinson¡¯s disease/syndrome drugs significantly increased among the Anatomical Therapeutic Chemical classifications defined as the ¡°nervous system¡± (trend P¡Ü0.02). The prescription rate for risperidone consistently increased, reaching 6.9% in 2010 (trend P<0.0001), the highest rate of the surveyed drugs among the antipsychotics. The prescription rate for aripiprazole also increased (trend P<0.0001), reaching 1.9% in 2010. The prescription rate for pimozide showed no annual changes, with a low rate of 0.4% in 2010.
Conclusions:
Compared with pimozide, the prescription rates for risperidone, aripiprazole and other psychotropic drugs have increased. Because safety data for these drugs in Japanese children are sparse, there is a need for future safety evaluations of these drugs in Japanese children.
 
Key words: autism; children; pervasive developmental disorders; prescription
  [Abstract] [Full Text] [PDF]  
Impact of a new aggressive nutrition policy incorporating
  Chuen Siang Low, Jacqueline J Ho, Revathy Nallusamy
 
Background:
Most of the evidence on early feeding of preterm infants was derived from high income settings, it is equally important to evaluate whether it can be successfully implemented into less resourced settings. This study aimed to compare growth and feeding of preterm infants before and after the introduction of a new aggressive feeding policy in Penang Hospital, a tertiary referral hospital in a middle income country.
The new aggressive feeding policy was developed mainly from Cochrane review evidence, using early parenteral and enteral nutrition with standardized breastfeeding counselling aimed at empowering mothers to provide early expressed milk. A total of 80 preterm babies (34 weeks and below) discharged from NICU were included (40 pre- and 40 post-intervention). Pre and post-intervention data were compared. The primary outcome was growth at day 7, 14, 21 and at discharge and secondary outcomes were time to full oral feeding, breastfeeding rates, and adverse events.
Results:
Complete data were available for all babies to discharge. One baby was discharged prior to day 14 and 10 babies before day 21, so growth data for these babies were unavailable. Baseline data were similar in the two groups. There was no significant weight difference at 7, 14, 21 days and at discharge. More post-intervention babies were breastfed at discharge than pre-intervention babies (21 vs. 8, P=0.005). Nosocomial infection (11 vs. 4, P=0.045), and blood transfusion were significantly lower in the postintervention babies than in the pre-intervention babies (31 vs. 13, P=0.01). The post-intervention babies were more likely to achieve shorter median days (interquartile range) to full oral feeding [11 (6) days vs. 13 (11) days, P=0.058] and with lower number affecting necrotising enterocolitis (0 vs. 5, P=0.055).
Conclusions:
Early aggressive parenteral nutrition and early provision of mother¡¯s milk did not result in improved growth as evidenced by weight gain at discharge. However we found more breastfeeding babies, lower nosocomial infection and transfusion rates. Our findings suggest that implementing a more aggressive feeding policy supported by high level scientific evidence is able to improve important outcomes.
 
Key words: early breastfeeding; early parenteral nutrition; pediatrics; preterm babies
  [Abstract] [Full Text] [PDF]  
CAIPIRINHA-accelerated T1w 3D-FLASH for small-bowel
  Mengxia Li, Anke Dick, Nicole Hassold, Thomas Pabst, Thorsten Bley, Herbert Köstler,
 
Background:
The ¡°Controlled Aliasing In Parallel Imaging Results In Higher Acceleration¡± (CAPIRINHA) technique greatly accelerates T1w 3D fast low angle shot (FLASH) scans while maintaining high image quality. We studied image quality and conspicuity of inflammatory lesions on CAIPIRINHA-accelerated imaging for pediatric small-bowel magnetic resonance imaging (MRI).
Forty-four consecutive patients (mean 14¡À3 years, 18 girls) underwent small-bowel MRI (MR enterography, MRE) at 1.5 T including diffusion-weighted imaging (DWI), contrast-enhanced CAIPIRINHA 3D-FLASH and standard 2D-FLASH imaging. Crohn¡¯s disease (CD) was confirmed in 26 patients, 18 patients served as control. Independent blinded readings were performed for grading of image quality and conspicuity of CD lesions on CAIPIRINHA FLASH and standard FLASH images in comparison to a reference standard comprising imaging and endoscopic data.
Results:
CAIPIRINHA FLASH yielded significantly higher image quality with good inter-observer agreement (¦Ê=0.68) and showed better visual delineation in 40% of the assessed bowel lesions, as compared to standard FLASH. There was full agreement for identification of CD patients between CAIPIRINHA and standard FLASH. CAIPIRINHA FLASH detected two small-bowel lesions that were not seen on standard FLASH. DWI revealed additional inflammatory lesions inconspicuous on contrast-enhanced imaging. MRE showed an overall diagnostic accuracy of 93%.
Conclusion:
We present first evidence that CAIPIRINHA greatly accelerates T1w imaging in paediatric MRE without trade-off in image quality or lesion conspicuity and is thus preferable to standard FLASH imaging.
 
Key words: CAIPIRINHA; Crohn's disease; FLASH; pediatrics; small-bowel MRI
  [Abstract] [Full Text] [PDF]  
Assessment of cardiac function in absence of congenital and
  Sevket Balli, Ilker Kemal Yucel, Ayse Esin Kibar, Ibrahim Ece, Eylem Sen Dalkiran,
 
Background:
Extra genetic material in patients with Down syndrome (DS) may affect the function of any organ system. We evaluated cardiac functions using conventional tissue Doppler and two-dimensional speckle tracking echocardiography in patients with DS in the absence of congenital and acquired heart disease in patients.
A total of 115 patients with DS between 6 and 13 years of age with clinically and anatomically normal heart and 55 healthy children were included in this cross-sectional study. DS was diagnosed by a karyotype test. Patients with mosaic type were not included in this study. Systolic and diastolic functions were evaluated by echocardiography.
Results:
Pulsed waved Doppler transmitral early/late inflow velocity (E/A), tissue Doppler mitral annular early/late diastolic peak velocity (Ea/Aa), transtricuspid E/A and tricuspid valve annulus Ea/Aa, pulmonary venous Doppler systolic/diastolic (S/D) wave ratio were lower in patients with Down syndrome than in the control group (P=0.04, P=0.001, P<0.05, P<0.001, P<0.001, respectively). Mitral and tricuspid annular Ea were lower in patients with DS (P<0.001). The right and left ventricular myocardial performance indexes were higher in patients with DS than in the controls (P<0.01). They had significantly higher left ventricular mass, ejection fraction, the mitral annular plane systolic excursion values. However, the Down syndrome group compared with the controls had a lower strain values examined by two-dimensional longitudinal speckle-tracking strain echocardiography.
Conclusion:
These findings suggest conventional tissue Doppler and two-dimensional longitudinal speckletracking strain echocardiography were useful methods of investigating ventricular function and identifying a higher incidence of biventricular dysfunction in patients with Down syndrome compared with the healthy controls.
 
Key words: diastolic function; Down syndrome; strain imaging analysis; systolic function; tissue Doppler
  [Abstract] [Full Text] [PDF]  
Prevalence of selective immunoglobulin A deficiency in Greek children and adolescents with type 1 diabetes
  Styliani Giza, Eleni Kotanidou, Efi mia Papadopoulou-Alataki, Maria Christina Antoniou,
 
Background:
The association of selective immunoglobulin A (IgA) deficiency with type 1 diabetes (T1D) remains unclear. This study was to evaluate serum IgA concentrations in Greek children and adolescents with T1D.
In two hundred individuals with T1D, serum IgA concentrations were quantitatively determined using nephelometry.
Results:
Immunoglobulin A deficiency was detected in 6 (3.0%) of 200 patients who were subjected to immunological evaluation. Recurrent infections were not recorded, but human papilloma virus infection was clinically suspected and confirmed by laboratory examination in a 5-year-old girl. In regard to coincidence of selective IgA deficiency with autoimmune diseases, celiac disease was detected in a girl and juvenile idiopathic arthritis in a boy. Serum IgA concentrations differed significantly when patients were grouped according to age at the beginning of the study (P<0.001), age at diagnosis of T1D (P=0.015) and coincidence of celiac disease (CD) (P=0.038). However, when the age of the patients was adjusted, difference in serum IgA concentrations was not statistically significant despite CD was present or not. Moreover, serum IgA concentrations were positively correlated with serum IgG (P<0.001) and IgE (P=0.001) concentrations and negatively correlated with serum antigliadin antibody IgG (P=0.035) concentrations. There was no association or correlation of serum IgA concentrations with glycemic control.
Conclusions:
The prevalence of selective IgA deficiency in Greek children and adolescents with T1D is high (3.0%). The correlation of serum IgA concentrations with serum IgG, IgE and anti-gliadin antibody IgG concentrations needs further investigation.
 
Key words: adolescents; children; immunoglobulin A deficiency; type 1 diabetes
  [Abstract] [Full Text] [PDF]  
Prevalence of metabolic syndrome in children aged 5-9
  Milton Fabian Suarez-Orteg¨®n, Cecilia Aguilar-de Plata
 
Background:
Exploration of cardiometabolic alterations in the pre-adolescent stage is necessary to characterize possible patterns for matabolic syndrome (MetS) in the earliest stages of the life. However, defining specific cutoff points for metabolic and vascular markers represents a complex task in pre-adolescent populations. This study aimed to estimate the prevalence of MetS and its components in children aged 5-9 years old by using the MetS definition for adolescents with the lowest cut-off points, and evaluate its relationship with overweight and socio-demographic determinants.
A total of 494 children were evaluated. Multivariate models with filtered variables in preliminary univarite analyses were built to find predictive factors of MetS and its components.
Results:
The prevalence of MetS was 8.7% in the studied children. Multivariate models showed that age, overweight and low socioeconomic stratum were associated with MetS; low high-density lipoprotein cholesterol was not significantly associated with any variable; high triglycerides were positively associated with age, overweight and inversely associated with kilocalories/day; female gender was the only variable significantly associated with high fasting glucose (inverse association); and age, gender and overweight were significant factors for increased waist circumference. In the case of high blood pressure, no variable was classified to the multivariate analysis.
Conclusions:
This study showed disturbing figures regarding cardiometabolic risk in the children based on comparisons with studies in adolescents. Further studies are needed to confirm the utility of the de Ferranti Mets definition in children.
 
Key words: fasting glucose; metabolic syndrome; obesity
 
 
  [Abstract] [Full Text] [PDF]  
Novel OCRL1 gene mutations in six Chinese families with
  Yan Gao, Fang Jiang, Zhi-Ying Ou
 
Background:
Lowe syndrome, an X-linked, inheritable disease with clinical symptoms of congenital cataracts, incomplete Fanconi syndrome, and mental retardation, has an approximate incidence of 1 in 500 000. Nearly 200 OCRL mutations related to Lowe syndrome have been found worldwide, with only ten mutations among the Chinese population. Since more mutations may exist in Chinese patients, we sequenced and analyzed the OCRL genes of six children with Lowe syndrome in a medical center in China.
Peripheral blood was collected from six children with Lowe syndrome and their relatives, and ten healthy adults. Genomic DNA was extracted from the blood and applied to amplify the twenty-four exons and flanking introns of the OCRL gene. The mutations were identified by sequencing.
Results:
Five mutations (c.1528C>T, c.2187insG, c.1366C>T, c.1499G>A, and c.2581G>A) of the OCRLgene were found in five families; c.2187insG and c.1366C>T were novel mutations. None of the five mutations were detected in 20 normal chromosomes. No mutation was found in the sixth family.
Conclusion:
Two novel mutations of the OCRL gene, c.2187insG and c.1366C>T, were found in Chinese patients with Lowe syndrome, which will provide new clues for the etiology of Lowe syndrome and could be beneficial to genetic diagnosis of the condition.
 
Key words: Lowe syndrome; OCRL gene; mutation
 
 
  [Abstract] [Full Text] [PDF]  
A high-fat high-energy diet infl uences hepatic CYP3A
  Shao-Qing Ni, Yin Lou, Xiu-Min Wang, Zheng Shen, Jue Wang, Zheng-Yan Zhao, Su Zeng
 
Background:
The objective of this study was to investigate the effects of a high-fat, high-energy (HFHE) diet on the hepatic expression of CYP3A in low-birthweight developing female rats.
Pregnant rats were divided into nourished and undernourished groups. The offspring of the nourished rats were defined as the normal-birth-weight (NBW) group, and those of undernourished rats were defined as the low-birth-weight (LBW) group. According to their birth weights and diets, the rats were subdivided into the following four groups: NBW-normal diet (NN) group; NBW-HFHE (NH) group; LBW-normal diet (LN) group; and LBW-HFHE (LH) group. Liver samples were isolated on days 3, 7, 14, 21, 28, 56 and 84 after birth.
Results:
The CYP3A1 mRNA levels in the LH group on days 3, 56 and 84 were significantly higher than those of the NN group (P<0.05). CYP3A1 expression was significantly higher in the LH group than that in the NH group on days 21, 28 and 84 (P<0.05). CYP3A1 mRNA expression was higher in the LH group than that in the LN group on days 3 and 21 (P<0.05). No zonal CYP3A1 expression pattern was observed in the LH developmental group. The LH group had significantly higher mean activity than the LN group on days 7, 14, 28 and 56.
Conclusion:
Our results indicated that an HFHE diet can result in alterations of CYP3A expression in a developmental LBW rat model.
 
Key words: CYP3A; development; high-energy diet; low birth weight
  [Abstract] [Full Text] [PDF]  
Case reports:
Complete resection of a huge hypervascular inflammatory
  Kyu-Nam Kim, Dong-Won Kim
 
Background:
Inflammatory myofibroblastic tumor (IMT) is a rare and mostly benign tumor that has the possibility of malignant change.
Radiological findings revealed a huge mass that filled most of the right hemithorax of a 17-monthold female infant. Tumorextirpation was stopped due to massive bleeding and limited exposure of the tumor. Embolization was conducted to obstruct the arteries feeding the mass. Complete resection was performed.
Results:
Histopathologic examination led to the diagnosis of IMT. Postoperative recovery was uneventful.
Conclusions:
Hypervascularity of IMT should be considered. Preoperative embolization can be effective to reduce intraoperative blood loss and facilitate the surgical procedure.
 
Key words: embolization; granuloma; mediastinal neoplasms; plasma cell
  [Abstract] [Full Text] [PDF]  
Rare co-occurrence of osteogenesis imperfecta type I and
  Julia Hoefele, Karin Mayer, Christoph Marschall, Martin Alberer, Hanns-Georg Klein,
 
Background:
There are several clinical reports about the co-occurrence of autosomal dominant polycystic kidney disease (ADPKD) and connective tissue disorders. A simultaneous occurrence of osteogenesis imperfecta (OI) type I and ADPKD has not been observed so far.
This report presents the first patient with OI type I and ADPKD.
Results:
Mutational analysis of PKD1 and COL1A1 in the index patient revealed a heterozygous mutation in each of the two genes. Mutational analysis of the parents indicated the mother as a carrier of the PKD1 mutation and the father as a carrier of the COL1A1 mutation. The simultaneous occurrence of both disorders has an estimated frequency of 3.5:100 000 000.
Conclusion:
In singular cases, ADPKD can occur in combination with other rare disorders, e.g. connective tissue disorders.
 
Key words: kidney disease; osteogenesis imperfect; polycystic kidney
  [Abstract] [Full Text] [PDF]  
Clinical image:
Diagnostic clues to avoid pitfalls in the management of rare association of anorectal malformation with ileal atresia
  Archana Puri, Shalu Shah
 
  [Abstract] [Full Text] [PDF]  
Correspondence:
Reply to "Lack of evidence for Helicobacter pylori to prevent children growth efficiently"
  Celebi Kocaoglu
 
  [Abstract] [Full Text] [PDF]  
Lack of evidence for Helicobacter pylori to prevent children growth efficiently
  Amin Talebi, Bezmin Abadi
 
  [Abstract] [Full Text] [PDF]  
   
 
 
 
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