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ABSTRACT: OBJECTIVE: The purpose of this study was to evaluate the diagnostic performance of intravenous contrast enhanced computed tomographic colonoscopy (IVCTC) in the diagnosis of clinically suspected colorectal polyps in children, using conventional colonoscopy (CC) as the gold standard. METHODS: This was a prospective study conducted between July 2008 and June 2010. 30 pediatric patients with history of rectal bleeding and clinically suspected to have colorectal polyps were enrolled. All of the patients underwent IVCTC followed by CC. 30 IVCTC and 31 CC were performed in 30 patients. The findings of IVCTC were compared with those of CC. Statistical analysis was performed to obtain diagnostic performance values of IVCTC on per polyp (sensitivity and positive predictive value) and per patient (sensitivity, specificity, positive predictive value and negative predictive value) basis. RESULTS: By IVCTC, 63 polyps were detected in 28 patients of which 53 polyps were eligible for inclusion in the statistical analysis. 60 polyps were detected by CC in 28 patients of which 50 polyps were eligible for inclusion in the statistical analysis. The per polyp sensitivity and positive predictive values were 94% and 88.6% respectively. The per patient sensitivity, specificity, positive predictive value, and negative predictive values were 96.4, 50, 96.4, and 50% respectively. Twenty polyps, in 10 patients, were visualized only after intravenous contrast administration of which 5 polyps, in 5 patients, were likely to have been missed in the absence of the intravenous contrast injection as these polyps were submerged in fluid. Four patients would have had a false negative CTC examination if the intravenous contrast had not been injected; while in another patient, the number of polyps would have been underestimated. CONCLUSION: CTC is capable of serving as a safe and efficient non-invasive tool for evaluating children with clinically suspected colorectal polyps. Administration of intravenous contrast improves the sensitivity of polyp detection on CTC.
European journal of radiology 01/2013; · 2.65 Impact Factor
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ABSTRACT: Classical Galactosemia is an autosomal recessive disorder of galactose metabolism caused by severe reduction or absence of the galactose-1-phosphate uridyl transferase (GALT) enzyme. Till date, no reports are available on clinical and molecular spectrum of galactosemia from Indian population. The characterization of underlying GALT gene lesions was performed in 55 unrelated galactosemia patients. The GALT mutational spectrum comprised 16 distinct mutations including 10 previously unreported mutations. N314D was the most common mutation with a frequency of 40% followed by Q188R at 2.7%. The novel GALT gene mutations included 6 missense mutations viz. Y89H, Q103R, P166A, S181F, K285R, R333L; one nonsense mutation, S307X and 3 silent mutations - Q103Q, K210K and H319H. The functional significance of the novel GALT missense mutations was investigated using SNPs&GO and SIFT tools. Further, modeling studies using 3D models of mutant and wild type GALT proteins revealed mutations to exert their effects at the molecular level by altering H-bonds, salt bridges, secondary structure or surface features. The study highlighted the heterogeneity of classical galactosemia in the Indian population and also emphasizes the importance of GALT gene analysis in diagnosis of galactosemia. It also revealed that the Indian GALT mutational profile differs significantly from other populations studied.
Clinica chimica acta; international journal of clinical chemistry 09/2012; 414C:191-196. · 2.54 Impact Factor
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ABSTRACT: This was a prospective observational study carried out to objectively assess the effect of shunt surgery on intestinal morphology and function in patients with extrahepatic portal vein obstruction (EHPVO) and correlate it with growth improvement.
Twenty patients who were operated upon for EHPVO were divided into two groups for the purpose of analysis depending on the outcome of surgery: group A - patients who underwent successful shunt surgery (n=14) and group B - patients who underwent splenectomy with devascularization (n=1) and those with thrombosed shunts (n=5). The patient groups were created on the basis of the type and outcome of the surgery and not prospective stratification. Growth parameters, endoscopy findings, duodenal histology, brush border enzyme activity, urinary D-xylose levels, fecal steatocrit, fecal α-1 antitrypsin, serum growth hormone and insulin-like growth factor-1 levels, and quality-of-life scores were assessed before surgery and at a mean of 24.9 weeks after surgery.
There was no significant difference between the preoperative and postoperative duodenal histology. Preoperative brush border lactase activity was significantly lower than normal and did not change significantly after surgery. EHPVO did not affect intestinal absorption or permeability. Shunt surgery resulted in significantly improved z scores for height after surgery as well as quality of life. There was no significant growth hormone resistance.
Our patients did not have any significant malabsorption or abnormality in small intestinal structure and function when compared with established normal levels. There was no significant change in the above parameters after shunt surgery, although an improvement in growth was observed. Thus, factors other than enteropathy or other lesser known enteral factors seem to be responsible for the growth retardation observed in EHPVO and its subsequent improvement after shunt surgery.
European journal of gastroenterology & hepatology 07/2012; 24(10):1219-26. · 1.66 Impact Factor
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ABSTRACT: Classical galactosemia is a genetic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. The Q188R and N314D mutations are the most frequently cited GALT gene mutations. N314D is further associated with two variants, Duarte 1 and Duarte 2. Nevertheless, no reports are available on the clinical and molecular spectrum of galactosemia from the Indian population. The present study was designed to establish the frequency of these two most common mutations and their variants in Indian galactosemia patients so as to determine a single most common mutation/polymorphism for establishing the DNA-based diagnosis of galactosemia. Three alleles were found to be present at a frequency of 0.036 (Q188R), 0.40 (N314D), and 0.39 (D2); no D1 alleles were found. A significantly higher frequency of the Duarte 2 allele in our population suggests the presence of a milder form of galactosemia, which can be well managed by early diagnosis and dietary management.
Biochemical Genetics 07/2012; · 0.86 Impact Factor
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ABSTRACT: Adult-type hypolactasia (AtH or lactase non-persistence) is the physiological decline in lactase activity that manifests in majority of the world's population after weaning. Recently, various single-nucleotide polymorphisms (SNPs) upstream of lactase gene (LCT) have been suggested to be associated with AtH or the lactase persistent trait in different human populations. C/T -13910 SNP was found be completely associated with AtH in Finnish population, and G/A -22018 SNP was found to be strongly, but not completely, associated with AtH. The aim of this study was to correlate G/A -22018 SNP with intestinal lactase activity in North Indian children. These children were also genotyped for C/T -13910 SNP. We also examined the differences in milk consumption and milk-related clinical symptoms in children with different genotypes of G/A -22018 and C/T -13910 SNPs. Intestinal biopsies were obtained from 231 children aged 2-16 years undergoing routine endoscopy for various abdominal complaints. The biopsies were assayed for lactase, sucrase, and maltase activities and genotyped for G/A -22018 and C/T -13910 SNPs using restriction fragment length polymorphism and DNA sequencing analysis. There was a significant correlation between lactase activity and different genotypes of G/A -22018 SNP. Children with G/G -22018 genotype had low lactase activity. With a reference value of <10 U/g protein (lactase activity) to be indicative of AtH, the sensitivity and specificity of genetic test based on G/A -22018 SNP was 94.4 and 94.1 %, respectively. Furthermore, the consumption of milk was lower in children with G/G -22018 genotype. Flatulence was the only symptom significantly more frequent among the children with G/G -22018 genotype compared to those with G/A and A/A -22018 genotypes. However, most of the children with G/G -22018 genotype seem to tolerate small amounts of milk without any significant difference in gastrointestinal symptoms from those with G/A and A/A -22018 genotypes.
Genes & Nutrition 07/2012; · 2.51 Impact Factor
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Rakesh Kochhar,
Kapil Jain, Babu R Thapa,
Pawan Rawal,
Abdul Khaliq,
Rashi Kochhar,
Sanjay Bhadada,
Kim Vaiphei,
Subhash Varma,
Usha Dutta,
Chander K Nain,
Kaushal K Prasad,
Kartar Singh
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ABSTRACT: Celiac disease (CD) is being increasingly recognized in adults though a majority of patients continue to be diagnosed in childhood.
To compare the clinical presentation and profile of newly diagnosed pediatric and adolescent/adult CD patients.
Retrospective analysis of patients diagnosed with CD between year 1997 and 2007 in the pediatric group, and between year 2000 and 2007 in the adolescent/adult group was done for clinical presentation, endoscopic findings and duodenal histology.
A total of 434 children and 298 adults were studied. The mean age of diagnosis was 6.5 ± 2.5 years (1-11 years) in children and 29.3 ± 13.3 years (6-73 years) in adolescent/adults. The mean duration of symptoms before diagnosis was 3.5 ± 2.5 years in children and 4.9 ± 4.6 years in the latter. Diarrhea as the presenting symptom was seen in 74 % of children and 58.7 % of adolescent/adults. Anemia (on investigations) was seen in 84 % of children and 94 % of adolescent/adults.
Pediatric patients of CD present more often with typical features than adults. Atypical presentations are more common in adults and the latent period for diagnosis is also longer in adolescent/adults. There is a need for increasing awareness about CD, both among pediatricians and physicians caring for adult patients.
Indian Journal of Gastroenterology 06/2012; 31(3):116-20.
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ABSTRACT: Absorption of milk sugar (lactose) is regulated by the activity of lactase enzyme in gut wall. Intestinal lactase activity declines during childhood in majority of human populations leading to adult-type hypolactasia (primary lactose malabsorption), limiting the use of fresh milk due to lactose intolerance. Aim of this study was to correlate lactase expression and activity with C/T -13910 variant in Indian children, determine the age of onset of down-regulation of lactase activity and assess the applicability of the C/T -13910 variant as a diagnostic marker for identifying children genetically inclined to develop adult-type hypolactasia.
Intestinal biopsies were obtained from 176 children aged 1-16 years undergoing routine endoscopy for various abdominal complaints. The biopsies were assayed for lactase, sucrase and maltase activities and genotyped for C/T 13910 variant using PCR-RFLP analysis. The functional effect of the C/T -13910 variant on expression of lactase mRNA and protein in these children was examined using reverse-transcription PCR and western blotting.
Among the 176 children investigated in our study, 56.8% (100/176) carried the C/C -13910 genotype, which has been associated with the onset of adult-type hypolactasia, while 40.9% (72/176) carried the C/T -13910 genotype and 2.3% (4/176) the T/T -13910 genotype. There was a significant correlation between lactase activity and C/T -13910 variant (P<0.001). The mean level of lactase activity among children with C/C -13910 genotype was 15.9 U/g protein and with C/T and T/T -13910 genotypes was 30.9 U/g protein. The age of onset of down-regulation of lactase activity in children with C/C -13910 genotype was between 3 and 5 years and keeping 10 U/g protein lactase activity as cut off, adult-type hypolactasia was evident in all the individuals>8 years of age for this genotype. C/C -13910 genotype was associated with low expression of lactase mRNA and protein compared with C/T genotype. Considering lactase activity of 10 U/g protein as gold standard, predictive value of genetic test based on C/T -13910 variant for adult-type hypolactasia was 100% in children>8 years of age.
C/T -13910 cis-acting regulatory variant located ≈14 kb upstream of lactase gene (LCT) completely correlates with lactase phenotype in Indian children. The genetic testing for the C/T -13910 variant may be helpful in the diagnosis of adult-type hypolactasia in Indian children.
Clinica chimica acta; international journal of clinical chemistry 10/2011; 412(21-22):1924-30. · 2.54 Impact Factor
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The Indian Journal of Pediatrics 06/2011; · 0.52 Impact Factor
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ABSTRACT: The objective of our study was to prospectively assess the role of abdominal sonography in the preoperative diagnosis of extrahepatic biliary atresia (EHBA) in infants younger than 90 days.
Sonography was performed in 99 infants younger than 90 days with conjugated hyperbilirubinemia (total bilirubin > 3 mg/dL, conjugated bilirubin > 20% of total) after 4 hours of fasting. They were evaluated for the "triangular cord" sign, the presence and morphology of the gallbladder, gallbladder contraction after oral feeding, the presence and diameter of the common bile duct (CBD), liver size and echotexture, spleen size, caliber of the right branch of the hepatic artery, and caliber of the right branch of the portal vein. The final diagnosis of EHBA was made on basis of surgery. The performance of sonography in the diagnosis of EHBA was evaluated.
The study group was composed of 68 boys and 31 girls (age range, 13-89 days); of the 99 infants, 30 had EHBA. The triangular cord sign had a sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of 23.3%, 97.1%, 77.8%, and 74.4%, respectively. The gallbladder was not visualized in seven infants, all of whom had EHBA. The sensitivity, specificity, PPV, and NPV of an abnormal gallbladder were 83.3%%, 82.6%, 67.6%, and 91.9%, respectively, and for noncontraction of the gallbladder were 87%, 72.5%, 51.3%, and 94.3%, respectively. A nonvisualized CBD had a sensitivity, specificity, PPV, and NPV of 93.3%, 47.8%, 43.8%, and 94.3%, respectively. A negative triangular cord sign with normal gallbladder morphology had an NPV of 91.9% for excluding EHBA.
Comprehensive sonographic evaluation can help in segregating infants at high risk of EHBA from those at low risk.
American Journal of Roentgenology 04/2011; 196(4):W438-45. · 2.78 Impact Factor
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ABSTRACT: Galactosemia is an autosomal recessive disorder of galactose metabolism. In the very first instance of its kind from India, the authors report the presence of three different galatose-1-phosphate uridyl transferase (GALT) gene mutations, associated with galactosemia, in a single Indian family. One of the three mutations, S307X, is a novel mutation (GenBank Accession number GQ355273) and is of nonsense nature causing the truncation of the GALT protein resulting in the decreased enzyme activity. The authors have also emphasized the importance of introduction of new born screening program for galactosemia and its genetic analysis in select settings across the country.
The Indian Journal of Pediatrics 12/2010; 78(7):874-6. · 0.52 Impact Factor
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ABSTRACT: Lymphocytic gastritis (LG) is characterized by the presence of > or = 25 lymphocytes/100 epithelial cells in the gastric surface and pit epithelium. An association of LG with Helicobacter pylori infection or celiac disease (CD) has been suggested. The aim of this study was to verify the relation of LG with CD, with and without H pylori infection, in children.
A total of 164 children with CD diagnosed between June 2003 and October 2005, in whom gastric and duodenal biopsies were performed simultaneously, were enrolled prospectively. The control group was composed of 164 children without CD, matched for sex and age, who were undergoing upper digestive endoscopy. H pylori was searched for in gastric biopsy specimens sectioned and stained with hematoxylin and eosin, and a modified Giemsa stain for H pylori was performed for confirmation. The Student t test was used to compare quantitative measurements between groups.
LG was found in 69 (42.1%) patients with CD. Positive cases had a mean of 43.9 +/- 1.5 intraepithelial lymphocytes per 100 surface epithelial cells, compared with a mean of 13.4 +/- 0.4 in negative cases and 7.8 +/- 0.5 in non-CD control children (P<0.0001). Patients not showing LG did, however, show significantly increased gastric intraepithelial lymphocytes compared with the control children. Nine of 164 CD patients, and 4 of 69 patients with LG, had positive results for H pylori.
This study supports a pathogenetic relation between CD and LG. CD without LG also showed increased gastric intraepithelial lymphocytes. H pylori infection may be another cause of LG in children.
Journal of pediatric gastroenterology and nutrition 11/2008; 47(5):568-72. · 2.18 Impact Factor
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ABSTRACT: Congenital absence of portal vein is a rare anomaly that results from aberrant venous development in early embryonic life. The intestinal and splenic venous drainage bypass the liver and may drain directly into inferior vena cava or the left renal vein or the left hepatic vein. This rare anomaly is commonly associated with other congenital malformations and generally limited to females. We describe a rare case of aberrant portal vein development with congenital portocaval shunt (end-to-side) in a 3.5-year male child associated with cardiac defects (atrial and ventricular septal defects), skeletal deformities (flexion deformity and clinodactyly of digits and toes), and lichen planus with café au lait macules of skin.
Journal of Pediatric Surgery 09/2008; 43(8):e25-8. · 1.45 Impact Factor
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ABSTRACT: In celiac disease (CD), abnormalities of brush border enzyme activities have been detected in the course of the disease activity. There are conflicting results on intestinal mucosal enzyme activities and its correlation to mucosal injury in CD. The aim of the present study was to evaluate the brush border enzyme activities (disaccharidases and alkaline phosphatase) in the duodenal mucosa of North Indian children with CD and to examine their correlation to duodenal mucosal morphological alterations.
This prospective study included 71 children with CD and 29 controls (patients with gastroesophageal reflux disease) in whom upper gastrointestinal endoscopy was performed and distal duodenal biopsies were taken for histological assessment, and estimation of disaccharidases and alkaline phosphatase activities. Each biopsy sample was classified according to the modified Oberhuber classification. Lactase, sucrase, maltase and alkaline phosphatase activities were estimated in duodenal biopsy homogenates from patients with CD and from controls. The association between enzyme activities and duodenal morphology was examined.
The mean age of the 71 patients with CD (M:F, 43:28) was 6.0 +/- 0.3 years and mean age of onset of symptoms was 2.7 +/- 0.4 years. Sixty-four of 71 (90.1%) CD patients showed type 3 (destructive) lesion, whereas it was grade 0 in all patients with gastroesophageal reflux disease. In CD and patients with gastroesophageal reflux disease, the mean level (IU/g protein) of lactase was 12.1 +/- 0.9 versus 24.4 +/- 1.0 (P < 0.001), mean level of sucrase was 25.9 +/- 1.9 versus 42.5 +/- 1.9 (P < 0.001), mean level of maltase was 56.6 +/- 3.5 versus 76.1 +/- 13.0 (NS), and mean level of alkaline phosphatase was 602.8 +/- 56.2 versus 1359.3 +/- 51.2 (P < 0.001), respectively. The mean disaccharidases and alkaline phosphatase levels were not significantly different in patients with milder lesions (type 2 and type 3a) compared with those of control. However, mean lactase, sucrase and alkaline phosphatase levels were significantly lower (P < 0.001) in CD patients with moderate (type 3b) and severe (type 3c) lesions compared with control.
A generalized decrease of disaccharidases and alkaline phosphatase activity was seen in the duodenal mucosa of children with CD. The depressed activities of lactase, sucrase and alkaline phosphatase were well correlated with the histological grade of duodenal mucosal lesions in children with CD.
Journal of Gastroenterology and Hepatology 12/2007; 23(8 Pt 2):e348-52. · 2.87 Impact Factor
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ABSTRACT: Endoscopic drainage of a single pseudocyst is a well-known treatment modality. Its role in the management of multiple pseudocysts is not well established. We evaluated the role of endoscopic transpapillary nasopancreatic drain (NPD) placement in the management of multiple and large pseudocysts.
Over 3 yr (2001-2004), endoscopic transpapillary NPD placement was attempted in 11 patients (age range 12-50 yr, 10 men) with symptomatic communicating multiple pseudocysts of pancreas (three in two and two in nine cases). A 5Fr/7Fr NPD was placed across the most distal duct disruption or into one of the pseudocysts.
Eight patients had an underlying chronic pancreatitis and three patients had pseudocysts as sequelae of acute pancreatitis. The size of pseudocysts ranged from 2 to 14 cm (mean 7.5 cm). Eight patients (72.7%) had at least one pseudocyst more than 6 cm in size. Nine patients had a partial disruption and two patients had complete disruption of the pancreatic duct. The NPD was successfully placed in 10 of 11 (90.9%) patients. Postprocedure acute febrile illness in one patient was the only complication noted, which responded to intravenous antibiotics. All pseudocysts resolved in 4-8 wk in 7 of 7 patients with successful bridging of the most distal ductal disruption. There was no recurrence of the pseudocysts in a mean follow-up of 19.4 months. Two patients, in whom there was a complete disruption and the NPD could not bridge the disruption, required surgery for the nonresolution of pseudocysts. In one patient with partial ductal disruption that could not be bridged, there was complete resolution of one pseudocyst and a decrease in the size of the other pseudocyst from 12 to 4 cm. The NPD was replaced by a stent and both the pseudocysts resolved in 20 wk.
Endoscopic transpapillary NPD placement is a safe and effective modality for the treatment of multiple and large pseudocysts, especially when there is partial ductal disruption, and the disruption can be bridged.
The American Journal of Gastroenterology 09/2006; 101(8):1780-6. · 7.28 Impact Factor
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ABSTRACT: Early differentiation of extrahepatic biliary atresia from intrahepatic cholestasis is important. Hepatobiliary scintigraphy is an excellent noninvasive investigation for ruling out extrahepatic biliary atresia. This study aimed at identifying the role of ursodeoxycholic acid (UDCA), a choleretic agent, in conjunction with hepatobiliary scintigraphy in differentiating extrahepatic biliary atresia from neonatal hepatitis.
Fifty-one infants (42 male, 9 female) aged 0.3-5.5 mo (mean, 2.9 mo) presenting with neonatal jaundice underwent 99mTc-mebrofenin hepatobiliary scintigraphy. For patients who did not show any excretion of tracer into the intestine till 24 h, the study was repeated after oral administration of UDCA (20 mg/kg every 12 h) for 48-72 h. Ultrasonography and, if required, liver biopsy and intraoperative cholangiography were used with clinical data such as stool color and serologic and other etiologic investigations to form a final diagnosis.
Of 51 patients, 19 showed biliary excretion in the first study, ruling out extrahepatic biliary atresia. Neonatal hepatitis was the final diagnosis in these. Of the remaining 32 patients, 12 nonexcretors converted to excretors after UDCA treatment, whereas 20 still showed no biliary drainage. Four nonexcretors on scintigraphy had a final diagnosis of neonatal hepatitis with galactosemia; the remaining 16 had extrahepatic biliary atresia. The specificity of hepatobiliary scintigraphy in ruling out extrahepatic biliary atresia improved from 54.3% to 88.6% (P < 0.001) after UDCA treatment. None of the patients experienced any ill effects from UDCA administration.
Pretreatment with UDCA significantly improves the specificity of hepatobiliary scintigraphy in ruling out extrahepatic biliary atresia as a cause of prolonged neonatal jaundice.
Journal of Nuclear Medicine 09/2004; 45(9):1488-92. · 6.38 Impact Factor
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ABSTRACT: Endoscopic sclerotherapy often is used to treat variceal bleeding in children with extrahepatic portal hypertension, but published data are limited. The role of endoscopic sclerotherapy in a large number of children with extrahepatic portal hypertension was evaluated.
Consecutive children presenting with variceal bleeding because of extrahepatic portal hypertension were included in this study. All children underwent endoscopic sclerotherapy with absolute alcohol at presentation and at 2-week to 3-week intervals thereafter, until variceal eradication was achieved. Follow-up endoscopy was performed at 3 months after eradication and then every 6 months thereafter.
A total of 257 patients with extrahepatic portal hypertension were managed from January 1992 to December 2001. Of these, 50 were lost to follow-up before eradication was achieved, leaving 207 patients (144 boys, 63 girls; mean age at presentation, 7 [SD 3.5] years) for whom evaluation was complete. Of the 207 patients, 5 died of bleeding, 23 underwent surgery, and 6 are still undergoing endoscopic treatment. Varices were successfully eradicated in 165 of 173 cases (95%) after a mean of 4.5 (1.9) endoscopic sclerotherapy sessions (mean volume of sclerosant, 8 [4] mL). Complications encountered were ulcer (17%), stricture (18%), and perforation (1.4%). Interval bleeding before eradication was encountered in 10.6% of cases. At a mean follow-up of 36 (29) months, varices had recurred in 17% patients, but only 3 of them had recurrent bleeding.
Endoscopic sclerotherapy effectively eradicates varices in children with extrahepatic portal hypertension, with an acceptable complication rate. On long-term follow-up, recurrent bleeding after eradication is rare.
Gastrointestinal Endoscopy 06/2003; 57(6):683-6. · 4.88 Impact Factor
