Role of anti-tissue transglutaminase IgA+IgG antibodies in detection of potential celiac disease in patients with type 1 diabetes.

BACKGROUND & OBJECTIVES: : Celiac disease (CD) can exist in various forms in type 1 diabetes (T1D) patients and can remain undetected, leading to severe complications. This study was aimed to evaluate five commercially available anti-tissue transglutaminase (tTG) ELISA kits with distinct formats for the detection of CD and potential CD in T1D patients. Clinical and demographic profiles of the patients with different disease subsets were also studied. METHODS: : Fifty T1D patients with classical and non-classical symptoms of CD and 100 T1D patients without any symptoms of CD were included in this study. Anti-tTG autoantibody levels were estimated by five ELISA kits followed by histological examination of duodenal biopsy. HLA DQ2-DQ8 and DRB1-DQB1 typing was done, and serum levels for transforming growth factor (TGF)-ß1 were also estimated. RESULTS: : Assay format detecting anti-tTG IgA antibodies against recombinant antigens along with neopeptides of gliadin was most efficient in the detection of CD in symptomatic patients, and assay format detecting IgA+IgG helped in the detection of potential CD in asymptomatic T1D patients. These findings were supported by histological examination and human leucocyte antigen analysis. Patients with potential CD were found to have markedly deranged glycaemic control parameters and also had significantly raised serum levels of TGF-ß1, (P <0.05) compared to T1D patients. INTERPRETATION & CONCLUSIONS: : Potential CD can be frequently seen in T1D patients. This can be attributed to the dietary patterns prevalent in the subcontinent and the genetic basis of the disease. Anti-tTG IgA+IgG antibodies can be useful in the detection of these potential CD cases in T1D patients. Early intervention with gluten-free diet can be considered in these patients for better disease management.

Lactase genetic polymorphisms and coeliac disease in children: a cohort study.

BACKGROUND: Lactase activity declines during childhood in the majority of human populations leading to adult-type hypolactasia (AtH). C/T-13910 and G/A-22018 single nucleotide polymorphisms (SNPs) have been suggested to be associated with AtH in different human populations. Coeliac disease (CD) is an autoimmune condition characterized by damage to intestinal cells leading to ultimate deterioration. AIM: This study investigated the association between coeliac disease (CD) and SNPs leading to AtH in children from North India. SUBJECTS AND METHODS: Intestinal biopsies and saliva samples were obtained from 52 children with CD diagnosis and 102 control subjects. Biopsies were assayed for disaccharidase activities and samples were genotyped for given SNPs. RESULTS: Prevalence of C/C and G/G genotypes of AtH was almost equal in the CD and control group. The CD group had low lactase activity compared to the control group, irrespective of genotype at C/T -13910 and G/A -22018 SNPs (p < 0.05). For the control group, lactase activity was high in children with C/T + G/A genotypes compared to C/C + G/G (p < 0.05). CONCLUSION: There appears to be no significant correlation between C/T -13910 or G/A -22018 SNPs of AtH and CD. Children with C/C or G/G genotype of AtH may not be at greater risk of CD.

Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.

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.

Role of abdominal sonography in the preoperative diagnosis of extrahepatic biliary atresia in infants younger than 90 days.

OBJECTIVE: 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. SUBJECTS AND METHODS: 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. RESULTS: 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. CONCLUSION: Comprehensive sonographic evaluation can help in segregating infants at high risk of EHBA from those at low risk.

Natural history and predictive risk factors of prolonged unconjugated jaundice in the newborn.

BACKGROUND: This study aimed to investigate the natural course and risk factors for prolonged unconjugated jaundice (PUJ) in neonates. METHODS: This was a prospective descriptive study conducted in a tertiary care referral hospital of Northern India. The study included neonates who presented with clinical jaundice beyond 14 days of age. A detailed history, clinical examination and investigations were performed in all. All were followed till the normalization of clinical jaundice or up to 8 weeks of age, whichever was earlier. The key outcome measure was time to normalization of PUJ. Predictive risk factors for PUJ were analyzed by comparing with matched controls. Regression analysis was done for independent predictive risk factors of PUJ. RESULTS: A total of 71 infants presented with prolonged jaundice (PJ). Out of these, 66 infants (93%) had PUJ. Glucose-6-phosphate dehydrogenase (G6PD) deficiency was the most commonly identified association of PUJ (24%). The median duration of jaundice in infants with PUJ was 5 weeks (range: 5-8). PJ in siblings (OR 2.9 [1.1-7.6]), oxytocin use during labor (OR 3.4 [1.1-10.4]) and G6PD deficiency (OR 4.0 [1.1-14.1]) were independent predictors of PUJ. CONCLUSIONS: Irrespective of the etiology, by 8 weeks, PUJ disappeared in all infants. G6PD deficiency was the most common association of PUJ. A history of PJ in siblings, use of oxytocin during labor and G6PD deficiency were independent predictors for PUJ.

Brush border enzyme activities in relation to histological lesion in pediatric celiac disease.

BACKGROUND AND AIM: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Lymphocytic gastritis and celiac disease in indian children: evidence of a positive relation.

OBJECTIVES: 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. PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

Implication of the cystic fibrosis transmembrane conductance regulator gene in infertile family members of Indian CF patients.

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the CFTR gene. Among males with CF, 95% are infertile due to congenital absence of the vas deferens. We investigated the role of family history of infertility among CF subjects and characterized mutations in them. Among 50 CF subjects, four had a family history of infertility. A homozygous c.1521_1523delCTT mutation was detected in one, two had a compound heterozygous genotype (c.1521_1523delCTT/c.3717 + 10 kbC>T), and c.1521_1523delCTT mutation was identified on one allele of fourth CF subject. Genetic analysis of each infertile family members of CF subjects revealed the c.1521_1523delCTT mutation on one allele; however, no mutation could be identified on other allele. Haplotype analysis of the infertile family members showed that at least one of the alleles shared the same haplotype as that of the index case. It is suggested that the CFTR gene is implicated in the infertile members of the CF families. Failure to detect mutations on the other allele by SSCP analysis demands direct gene sequencing to detect mutations in the intronic or promoter region.

Liver acoustic radiation force impulse (ARFI) in childhood obesity: comparison and correlation with biochemical markers.

PURPOSE: To compare and correlate the diagnostic efficiency of acoustic radiation force impulse (ARFI) elastography with biochemical markers for assessing hepatic changes in overweight and obese children. METHODS: This prospective study was approved by the institutional ethics committee. It included 54 overweight and obese children and 50 normal children (as a control group) in the age range 5-18 years. For all children, we performed grayscale ultrasonography to diagnose fatty liver, ARFI elastography to measure liver stiffness, and biochemical evaluation for aspartate aminotransferase (AST), alanine aminotransferase (ALT), and serum triglyceride (TG) levels. RESULTS: Of the 54 obese children, AST was elevated in 13 (24.1%) and ALT was elevated in 16 (29.6%); however, only 4 (25%) of these 16 obese children with abnormal aminotransferase levels had an AST/ALT ratio >0.8. Furthermore, all children with abnormal aminotransferase levels with AST/ALT ratio >0.8 also had abnormal readings of ARFI elastography. The TG was elevated (>150 mg/dL) in 2 out of 54 (3.7%) obese children. None of the normal children showed abnormal levels of aminotransferase and TG. Three out of 54 (5.6%) obese children did not show fatty liver changes, while 29 (53.7%) showed grade-I fatty liver changes, and 22 (40.7%) showed grade-II fatty liver changes. The mean (SD) ARFI value was 1.13 m/s (SD 0.199) for obese children and 1.02 m/s (SD 0.11) for children in the control group. Of the 54 obese children, 49 (90.7%) showed ARFI values of <1.19 m/s (normal), 4 (7.4%) had ARFI values from >1.19 to <1.75 m/s, and 1 (1.9%) had an ARFI value >1.75 m/s. Four children with an increased ARFI value also had an AST/ALT ratio >0.8. However, one obese child with a raised ARFI value did not have an elevated AST/ALT ratio, and none of his aminotransferase levels were abnormal. All normal children had ARFI values <1.19 m/s. CONCLUSION: ARFI elastography shows excellent correlation with AST/ALT ratios in obese children and may be used as a noninvasive tool to detect nonalcoholic fatty liver disease (NAFLD) and associated hepatic changes, especially in pediatric patients, for whom liver biopsy is not always feasible.

Congenital Extrahepatic Portosystemic Shunts: Spectrum of Findings on Ultrasound, Computed Tomography, and Magnetic Resonance Imaging.

Congenital extrahepatic portosystemic shunt (CEPS) is a rare disorder characterised by partial or complete diversion of portomesenteric blood into systemic veins via congenital shunts. Type I is characterised by complete lack of intrahepatic portal venous blood flow due to an end to side fistula between main portal vein and the inferior vena cava. Type II on the other hand is characterised by partial preservation of portal blood supply to liver and side to side fistula between main portal vein or its branches and mesenteric, splenic, gastric, and systemic veins. The presentation of these patients is variable. Focal liver lesions, most commonly nodular regenerative hyperplasia, are an important clue to the underlying condition. This pictorial essay covers imaging characteristics in abdominopelvic region.

Ursodeoxycholic acid-augmented hepatobiliary scintigraphy in the evaluation of neonatal jaundice.

UNLABELLED: 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. METHODS: 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. RESULTS: 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. CONCLUSION: Pretreatment with UDCA significantly improves the specificity of hepatobiliary scintigraphy in ruling out extrahepatic biliary atresia as a cause of prolonged neonatal jaundice.

HLA DRB1 Alleles Discriminate the Manifestation of Autoimmune Hepatitis as Type 1 or Type 2 in North Indian Population.

BACKGROUND: Autoimmune hepatitis is a polygenic disorder of unknown etiology, where genetic factors affect the occurrence and clinical phenotype of the disease. It has been reported as a rare disease entity in the Indian subcontinent. This study was undertaken to investigate the association of HLA alleles with autoimmune hepatitis type 1 and type 2 in north Indian population and to analyze if distinct human leukocyte antigen (HLA) alleles help in characterization of the subtypes of autoimmune hepatitis. METHODS: Sixty-eight patients with autoimmune hepatitis and 128 healthy controls were recruited in the study. Out of 68 patients, 55 were diagnosed with autoimmune hepatitis type 1 and 13 with autoimmune hepatitis type 2. The patients and the controls were typed for HLA class II alleles by PCR-SSP method. RESULTS: HLA DRB1*04 and DRB1*08 were found to be significantly associated with autoimmune hepatitis type 1 in north Indian population. It was also observed that DRB1*04, DRB1*13 were significantly associated with pediatric autoimmune hepatitis type 1 and DRB1*08 was significantly associated with adult autoimmune hepatitis type 1. DRB1*14 was significantly associated with autoimmune hepatitis type 2. CONCLUSION: The study indicates that autoimmune hepatitis in north Indian population is associated with HLA alleles that may help to discriminate the subtypes as autoimmune hepatitis type 1 and type 2. The study also highlights the ethnic variations in the Indian subcontinent in context to the genetic association of HLA with autoimmune diseases.

Correlation of G/A -22018 single-nucleotide polymorphism with lactase activity and its usefulness in improving the diagnosis of adult-type hypolactasia among North Indian children.

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.

Intravenous contrast enhanced computed tomography colonoscopy in children with suspected colonic polyps.

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.

Biochemical and molecular characterization of GALT gene from Indian galactosemia patients: identification of 10 novel mutations and their structural and functional implications.

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.

Comparison of hospital versus rural eye cAMP based pediatric cataract surgery.

PURPOSE: To compare the outcomes of pediatric cataract surgery with intraocular lens (IOL) implantation in an eye camp setting and tertiary care center. MATERIALS AND METHODS: Children aged 5-16 years with visually significant cataract underwent phacoaspiration with IOL implantation in an eye camp (eye camp group) or tertiary care center (TCC group). All surgeries incorporated contemporary microsurgical techniques with implantation of polymethyl-methacrylate (PMMA) IOL. Major postoperative complications were managed at a tertiary care center. Postoperative complications, visual acuity and compliance were evaluated using the Chi-square test. A P value less then 0.05 was considered as statistically significant. RESULTS: The cohort comprised 59 children in the eye camp group and 48 children in the TCC group. Thirty two of fifty nine (54.23%) eyes in the eye camp group and 30/48 (62.5%) eyes in the TCC group achieved 20/40 or better best corrected visual acuity (BCVA) postoperatively. Postoperatively, 36 (61%) eyes in the eye camp group and 22 (45.83%) eyes in the TCC group required Nd: YAG laser capsulotomy or a pars plana membranectomy. (P> 0.05) The most striking feature was loss to follow up. In the eye camp group, loss to follow was 20% at one year, 49% at two years, 62% at 3 years and 67% at 4 years compared to 12.5, 21, 27 and 33% respectively in the TCC group (P<0.05, all cases). CONCLUSIONS: The outcomes of camp and tertiary care center (hospital) based pediatric cataract surgery were similar. However, the major drawback of camp based surgery was loss to follow up which eventually affected the management of amblyopia and postoperative complications.

A prospective study comparing histology and enteric enzyme function of patients with extrahepatic portal vein obstruction before and after shunt surgery.

BACKGROUND: 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. PATIENTS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.

Clinical presentation of celiac disease among pediatric compared to adolescent and adult patients.

BACKGROUND: Celiac disease (CD) is being increasingly recognized in adults though a majority of patients continue to be diagnosed in childhood. AIM: To compare the clinical presentation and profile of newly diagnosed pediatric and adolescent/adult CD patients. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.

A case of classical galactosemia: identification and characterization of 3 distinct mutations in galactose-1-phosphate uridyl transferase (GALT) gene in a single family.

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.