Benefits from genetic test in descendants of familial adenomatous polyposis syndrome: report of a family in southern Thailand.

Background: Familial adenomatous polyposis (FAP) is an inherited colorectal cancer predisposing syndrome that has an autosomal dominant mode of inheritance with complete penetrance. Although the disease-causing gene of FAP, the adenomatous polyposis coli (APC) gene, is well understood, genetic testing for FAP remains uncommon in Thailand, possibly because of its high cost. Objective: Present a family in southern Thailand that had benefited from this test. Subject and methods: The proband was a 31-year-old man who had rectal cancer with profuse adenomatous polyposis of his colon. Results: APC mutation screening revealed a novel mutation at codon 1249 (TGC1249TAA) that could predict a premature stop codon. On screening of three siblings in the same generation who were alive and 11 members of the descendant generation, four cases were positive for the mutation. The positive members were confirmed to have a type of diffuse colonic polyposis by endoscopy, and a prophylactic colectomy was performed without complications for every affected individual. Conclusion: A genetic test is cost-effective. It should be considered for FAP, especially when the number of at-risk family members is high.

Outcomes of pediatric nephroblastoma in southern Thailand.

BACKGROUND AND AIMS: The outcomes of nephroblastoma (Wilms tumor, WT) in our institute and other developing countries are notably below results in most developed countries. The objective of this study was to review treatment outcomes of pediatric nephroblastoma in southern Thailand during the past decade and attempt to isolate factors associated with a poor prognosis. PATIENTS AND METHODS: The records of 34 WT patients, aged less than 16 years, who were operated on in Songklanagarind Hospital, Thailand, during the period from January 1996 to December 2007 were reviewed. The management protocol followed the scheme of the US National Wilms Tumor Study Group (NSWTG). RESULTS: Thirteen cases (38.2%) were diagnosed as stage I, 4 (11.8%) as stage II, 13 (38.2%) as stage III and 2 (5.9%) as stage IV. Two cases with bilateral disease (stage V) had stage I tumors in both kidneys. Four-year overall survival (OS) and event free survival (EFS) rates were 65.2% and 52.7%, respectively. Univariate analysis by Log-rank test revealed statistically significant associations between OS and nodal status (p-value <0.01), manifestation of gross hematuria (p-value 0.02), and tumor size of 10 centimeters or more (p-value 0.02). Multivariate analysis found only the nodal status to be independently associated with OS at a Hazard Ratio of 16.6 (p-value <0.01). Eight of 13 stage I cases and 6/13 stage III cases had relapsed, with two-year post-relapse survival of 42.8%. Significantly poorer outcome was found in cases with early relapse within 200 days after enrolment (p-value 0.02). CONCLUSION: The poor outcome of pediatric nephroblastoma in southern Thailand seems to be related at least in part to failures in primary treatment in stage I patients. Large tumor size and gross hematuria were associated with risk of a poorer outcome.

Gastropleural fistula following a splenectomy for splenic abscess: a case report.

Gastropleural fistula is a rare condition that occurs as a consequence of various thoraco-abdominal surgical procedures and septic conditions. The diagnosis is difficult, it needs a high index of suspicion and appropriate investigations. There are no previous reports of a patient developing a fistula after a splenectomy procedure. The authors report a twelve-year old boy who developed gastropleural fistula following thoracoabdominal surgery, a splenectomy. The patient presented with the clinical condition of chronic empyema thoracis and responded well to medical and surgical treatment.

Circumumbilicus incision for bleeding Meckel's diverticulectomy.

BACKGROUND/OBJECTIVE: With regard to the recent interest in minimally invasive surgery, the authors report on a technique of transumbilical incision for Meckel s diverticulum and appendectomy, which provides better cosmetic results and no increase in complications. MATERIAL AND METHOD: The case records of 18 consecutive Meckel's diverticulum (MD) patients who were treated at Songklanagarind Hospital in Thailand between 1996 and 2005 were reviewed. RESULTS: The male-female ratio was 14-4 (3.5:1). Of the 15/18 (83.3%) symptomatic cases, presenting symptoms were bleeding 10/15 (66.7%), gut obstruction 2/15 (13.3%), peritonitis 2/15 (13.3%), and intussusception 1/15 (6.7%). All bleeding patients were children (age 1-15 years), 9/10 (90%) Meckel scan positive and 10/10 (100%) ectopic-gastic tissue. Four children underwent a circumumbilical incision. There were no perioperative or long-term complications related to the transumbilical approach. CONCLUSION: The umbilical incision has all the benefits of a minimal access approach. Umbilical incision is a safe, inexpensive, cosmetically pleasing, and easy technique. This minimally invasive surgery does not require long-term specialized training or special equipment.

Incomplete duplication of the esophagus: a case report.

A case of incomplete duplication of the esophagus diagnosed in a 20-month-old girl with an esophageal perforation is presented. X-ray films of the chest showed pneumomediastinum and subcutaneous emphysema. A water soluble contrast esophagogram revealed a contrast leakage from the cervical esophagus to the thoracic inlet. The endoscopic findings are described. Complete resection of the esophageal duplication was effective.

Application of subjective global assessment as a screening tool for malnutrition in pediatric surgical patients.

OBJECTIVES: To determine the incidence of malnutrition in the pediatric surgical ward and to evaluate the value of SGA as a nutrition assessment tool in this patient group. PATIENTS AND METHOD: Consecutive pediatric patients aged 2 months-16 years who were admitted for an operation in the pediatric surgical ward, Songklanagarind Hospital from February to September 2001 were included. Nutritional assessment was performed for each case, using a translated version of the SGA questionnaire. Anthropometric measurements and laboratory tests were performed as a routine pre-operative evaluation. The result of the SGA ratings were tested against the other parameters and Gomez's weight for age (W/A) criteria for protein energy malnutrition. SGA and the other parameters were tested for association with post-operative infectious complications. Each SGA question was analyzed by multivariate logistic regression analysis, to determine an independent correlation between the question item and final SGA rating. RESULTS: The study included 78 patients. At least one item of SGA history was positive in 28 cases (35.9%). The SGA rating was class A in 50 cases (64.1%), class B in 17 cases and class C in 11 cases. According to the Gomez classification, 42 cases (53.8%) were considered normal or overweight, whereas 23 cases (29.5%) were in the first degree underweight, 9 cases were in the second degree and 4 cases were in the third degree. Malnutrition by SGA rating correlated significantly with Gomez's second and third degree malnutrition, lower z-score, lower BMI and hypoalbuminemia. Malnutrition by SGA rating and hypoalbuminemia were associated with increased risk of an infectious complication, whereas a significant relation between a complication and anthropometric malnutrition could not be demonstrated. Moreover, SGA malnutrition was significantly associated with a longer post-operative stay. Among 5 items of SGA questions, history of weight change in the recent 2 weeks and increased energy need considered by an underlying disease were found to be independently associated with a final SGA rating of malnutrition. History of weight loss and gastrointestinal symptoms were the 2 most sensitive questions. CONCLUSIONS: SGA is a sensitive and specific nutrition assessment tool useful in a pre-operative pediatric setting. Application of the protocol as a complement of standard anthropometric tool should be considered.

An appraisal of invertograms and distal colostograms in the management of anorectal malformations.

OBJECTIVES: To determine the accuracy of two main radiologic tools currently employed in the clinical management of anorectal malformations, the invertogram and the distal colostogram. The data will be useful as a basis for quality assurance as well as for future comparisons in case there are innovations to be considered. MATERIAL AND METHOD: Radiological materials and clinical records of infants with anorectal malformations operated on in Songklanagarind Hospital from 1995 to 2001 were retrieved. Each record was blindly reviewed by two radiologists and one pediatric surgeon. Using operative findings as the gold standard, the accuracy of an invertogram in diagnosing low anomalies and the accuracy of a distal colostogram in screening cases that needed a laparotomy and in detecting internal fistulas were determined. The quality of the films was also categorized and poor quality studies were excluded from the analysis. Cases of common cloaca were not included in the level reading analysis. RESULTS: Radiologic materials from 59 patients were examined, including 26 invertograms and 49 distal colostograms. Among 52 cases whose neonatal history could be traced, 29 (55.8%) cases exhibited clinical evidence of anomalies level. Two invertograms and 5 colostograms were graded as poor quality and excluded from the analysis. The overall sensitivity of invertograms in detecting low anomalies was 33.3%, whereas, specificity was 66.7%. Analyzing only infants with a blind rectal pouch, the sensitivity and specificity to detect low anomalies were 33.3% and 75.0%, respectively. The sensitivity of distal colostograms in detecting a fistula was 60.0% in males and 62.5% in females. Distal colostograms diagnosed 'high-type anomalies' in 7 cases and correctly detected 2 cases of vesical fistula which needed APSARP. No prostetic-urethral fistulas showed a radiological high level. CONCLUSION: The study found poor diagnostic sensitivity of invertograms in detecting low type anomalies which deserved primary anoplasty. However, the data support the role of a distal colostogram in diagnosing high anomalies, despite its low sensitivity in detecting urethral fistulas.

Peri-operative factors predicting the outcome of hepatic porto-enterostomy in infants with biliary atresia.

INTRODUCTION: Without hepatic transplantation, hepatic porto-enterostomy is the only definitive surgical therapy for infants with biliary atresia. Unfortunately, clearance of jaundice by the procedure is not promising. Pre-operative data that may predict the outcome is of great value in the selection of surgical candidates. Early post-operative determinants of outcome also help in follow-up planning. OBJECTIVE: To determine peri-operative factors influencing jaundice clearance after hepatic porto-enterostomy in infants with biliary atresia. PATIENTS AND METHOD: Clinical and laboratory data of pediatric patients undergoing hepatic porto-enterostomy in Songklanagarind Hospital from 1988 to 2001 were reviewed regarding age at operation, clinical presentation, gross pathology of bile duct atresia, liver function profiles and changes after the procedure, liver pathology and post-operative ascending cholangitis. Univariate comparison followed by multivariate logistic regression analysis was analyzed against the clearance of jaundice. Statistical analysis was aided by the Stata 7.0 program. Statistical significance was set at p-value less than 0.05. RESULTS: There were 62 infants operated on during the thirteen-year period. Four cases of operative death and a case lost to follow-up before the second post-operative month was excluded. The median age at the operation was 78 days (34-326 days). Twenty-four cases (42.1%) presented with signs of portal hypertension. After the operation, 19 cases (33.4%) were jaundice free, 6 cases (10.5%) had fair clearance and 32 cases (56.1%) had a poor result. Univariate analysis revealed an association between age at surgery and jaundice clearance. Post-operative stool color and decline of total bilirubin level at one month after surgery were significantly correlated with the outcome (p < 0.01). Cholangitis within the first post-operative month significantly had an adverse effect on the short-term survival probability. Multivariate analysis showed an independent association of jaundice clearance with age at surgery and type of bile duct atresia. CONCLUSION: Age of the infants younger than 60 days and type I of bile duct atresia were the key determinants of successful hepatic porto-enterostomy. Early cholangitis was an accelerator of progressive cirrhosis. Stool color and bilirubin level at one month after surgery can be used as predictors of jaundice clearance.

Ileal atresia and total colonic aganglionosis.

Herein, the authors report a case of ileal atresia who failed to have good bowel function after primary anastomosis. After the leakage of the revised anastomosis, a thorough pathological review found distal aganglionosis. An ileostomy followed by an ileocolic patch operation were performed for temporary decompression, awaiting intestinal adaptation. A definitive pull-through was performed, eight months later. The child also had bilateral cleft lip together with complete cleft palate, and hemivertebrae of the thoracic spines. A cluster of malformations is unusual in a single patient.

Associated genitourinary tract anomalies in anorectal malformations: a thirteen year review.

Congenital anomalies in the genitourinary tract are the leading associated anomalies in infants with anorectal malformations (ARM). Certain anomalies such as vesicoureteric reflux (VUR) may cause permanent renal damage. OBJECTIVE: To review associated genitourinary tract anomalies in-cases of anorectal malformations and evaluate the efficacy of ultrasonography in detecting VUR. MATERIAL AND METHOD: Retrospective review of 183 patients with ARM undergoing anoplasty between 1988-2001. RESULTS: Genital anomalies were found in 14 per cent (26 cases). Urologic anomalies were detected in 25.6 per cent (47 cases), with a higher incidence in supralevator anomalies. The most common upper tract anomaly was hydronephrosis, which resolved spontaneously in most of them. VUR was found in 16 cases (21 refluxing units) or 20 per cent of patients to whom voiding cystourethrogram (VCUG) was done. Sonography detected hydroureter and/or hydronephrosis in 3 of 21 refluxing units, despite 17 of them being grade three or more. Half of the cases with reflux had urinary tract infection at least once in the follow-up period despite normal initial urinalysis. Parenchymal scar was positive in four cases with VUR. CONCLUSION: Thorough evaluation of the urinary tract is necessary in infants with anorectal malformations. Ultrasound is an accurate tool in the examination of the upper tract, but not sensitive enough to detect lower tract anomalies, especially VUR.

Congenital megacolon: diagnosis using size of sub-mucosal nerve trunk as a criteria.

Cholinergic hyperinnervation in submucosa of aganglionic segment of Hirschsprung's disease has been described. However, objective measurement of the nerve fibers was insufficiently reported. OBJECTIVES: To study the amount and size of hypertrophic submucosal nerve trunks in the aganglionic segment of Hirschsprung's disease, semiquantitatively and evaluate the possibility of using the size as objective diagnostic criteria. MATERIAL AND METHOD: Thirteen specimens from aganglionic segments from Hirschsprung's disease and six specimens from the age-matched control subjected without colonic innervation disorders were studied with the S-100 immunohistochemical technic. The submucosal nerve trunks were counted per ten HPF and measured in width, semiquantitatively. Fiber sizes were stratified into small (<20 micrometers), medium (20-40 micrometers), and large (>40 micrometers). Maximum fiber size in each specimen was also recorded. RESULTS: Average density of submucosal nerve trunk in the aganglionic segment and the control were 12.5 and 3.4 fibers per ten HPF, respectively. The large nerve trunks were detected in 12 of 13 aganglionic specimens and none was detected in the controls. The maximum fiber size in aganglionic segments was 78.2 micrometers, compared to 24.1 micrometers in the control group. The sensitivity and specificity to set the presence of hypertrophic nerve trunk, larger than 40 micrometers as a diagnostic criteria for Hirschsprung's disease were 92.3 and 100 per cent, respectively. The data suggest the use of this size as an objective diagnostic criterion, which may be valuable in rectal suction biopsy specimens.

Gastric perforation in very low birth weight infants following indomethacin administration: 2 case reports.

Two very low birth weight infant who had received intravenous Indomethacin for closure of ductus arteriousus developed massive pneumoperitoneum on the first and fifteenth day after administration. Isolated gastric perforation, sparing the entire intestine was found on laparotomy. Pathological findings in the first case shows transmural hemorrhage without inflammation. This report aims to discuss the contribution that Indomethacin makes in the pathogenesis of intestinal perforation in newborn patients.