Polymorphism of 3' UTR of MAMLD1 gene is also associated with increased risk of isolated hypospadias in Indian children: a preliminary report.

OBJECTIVE: To study MAMLD1 gene polymorphisms, serum LH and testosterone levels amongst Indian children with isolated hypospadias (IH) and controls. MATERIALS AND METHODS: Screening of the MAMLD1 gene was performed by PCR sequencing method in 100 Indian children aged 0-12 years presenting with IH and 100 controls. LH and testosterone hormone levels were also assessed (categorized in four age-wise groups). RESULTS: IH subjects had significantly higher incidence of MAMLD1 polymorphism as compared to controls (33 vs 15 %, p = 0.01). Of various genomic variants identified in this study, the noteworthy novel ones were missense mutation P299A and single nucleotide polymorphism c.2960C>T in 3' UTR of Exon 7. While p 299A was found to cause protein structural instability consequent to amino acid change, eighty percent subjects with c.2960C>T in 3' UTR of Exon 7 (corresponding to newly discovered currently non-validated exon 11) were found to have lower testosterone levels when compared with their age group mean. IH showed statistically higher incidence of c.2960C>T in comparison to controls (22 vs 10 %, p value 0.046) and about 2.5-folds higher risk of this anomaly. CONCLUSION: Occurrence of MAMDL1 gene polymorphisms, specially of c.2960C>T in 3' UTR of its exon 7 is associated with a higher risk of IH in Indian children, probably by lowering androgenic levels.

Colonic gastrointestinal stromal tumour presenting as intussusception.

Gastrointestinal stromal tumours (GIST) are rare in paediatric patients and have a discrete clinicopathological and molecular divergence from that observed in adults. In the present report we present a case of a 2-month-old female in whom colonic gastrointestinal stromal tumour acted as a lead point of colocolic intussusception. Laparoscopically assisted reduction of the intussusception and resection of tumour was done.

Pedicled omental onlay flap for post-traumatic intrahepatic major ductal injury.

We report a 5-year-old girl who presented with post traumatic biliary leakage that failed to respond to conservative management for two weeks. Surgical exploration in the third week revealed a partially healed 5 cm long hepatic laceration in the right lobe of the liver. Bile was found leaking through a rent in the major right intra-hepatic duct at the apex of liver laceration. A pedicled onlay omental flap was used to buttress this rent as direct closure was not possible due to friable tissue. The child recovered uneventfully.

Neural tube defect repair and ventriculoperitoneal shunting: indications and outcome.

Neural tube defect with its global involvement of nervous system has lot of implications. There is cotroversy in terms of timing of repair, simultaneous or metachronous ventriculoperitoneal shunt and criteria for shunt surgery in neonatal age. We are reporting our approach and results of management of this disease in neonatal period.

Traumatic strictures of the posterior urethra in boys with special reference to recurrent strictures.

PURPOSE: We report 18 years' experience of traumatic urethral strictures in boys with emphasis on recurrent strictures. MATERIALS AND METHODS: Thirty-four boys with pelvic fracture urethral strictures underwent 35 repairs: 23 in the primary group (initial suprapubic cystostomy, but no urethral repair) and 12 in the re-do group (previously failed attempt(s) at urethroplasty elsewhere). The median age at operation and stricture length was 8.4 years and 3 cm in the primary and 9 years and 5.4 cm in the re-do group, respectively. Anastomotic urethroplasty was performed wherever possible, or failing this a substitution urethroplasty. Median follow up was 9 years for primary group and 8 years for re-do group. RESULTS: Primary group: urethroplasty was successful in 22/23, with 10 by perineal and 13 by additional transpubic approach. Two have stress incontinence. Erectile function is unchanged in all and upper tracts are maintained. One had recurrent stricture. Re-do group (12 including 1 recurrence from primary group): anastomotic urethroplasty was done in 5 and substitution urethroplasty in 7. Patients needing substitution had long stricture (>5 cm), stricture extending to distal bulb, or high riding bladder neck. All patients are voiding urethrally. Two patients with substitution required dilatation for early re-stenosis. One appendix substitution required delayed revision. Two have stress incontinence. Erectile function was unaffected. Upper tracts are maintained. CONCLUSIONS: Anastomotic urethroplasty was successful in over 95% of primary cases. In re-do cases it was viable in only 41% of cases; the rest required substitution urethroplasty. Urethral substitution also gave acceptable results.

"Limited" double dorsal dartos flap coverage. An effective alternative to conventional flap coverage of the neourethra following Mathieu repair for subcoronal hypospadias.

OBJECTIVES: Double dorsal dartos flap coverage of the neourethra has been reported to be superior to single flap coverage for the prevention of urethrocutaneous fistula following hypospadias surgery. Conventional flap coverage involves covering the entire neourethra with vascularised flap. We describe a "limited" double dorsal dartos flap coverage of the neourethra following Mathieu repair for subcoronal hypospadias. MATERIALS AND METHODS: In a prospective study conducted between Feb 2003 and Feb 2007, 31 patients with primary subcoronal hypospadias who had a flat and narrow urethral plate with a healthy urethral meatus and minimal or no chordee underwent Mathieu hypospadias repair. A "limited" double dorsal dartos flap coverage of the neourethra was done in all patients. This involved covering only that portion of the neourethra which remained exposed after glans closure, i.e. the proximal neourethra. Primary surgical outcome assessed was the development of urethrocutaneous fistula following surgery. RESULTS: The mean age at the time of repair was seven years and mean follow up was eight months. There was no flap loss, urethrocutaneous fistula formation, or glanular dehiscence in any of the 31 patients. One patient developed meatal stenosis which was managed by dilatation. One patient developed superficial sloughing of the penile skin. Overall complication rate was 6.45%. CONCLUSION: "Limited" double dorsal dartos flap coverage of the neourethra seems to be an effective method to reduce the fistulous complication rate following Mathieu repair for subcoronal hypospadias. A larger comparative study needs to be done to evaluate conventional neourethral coverage with "limited" neourethral coverage.

Unusual ventriculoperitoneal shunt extrusion: experience with 5 cases and review of the literature.

Distal migration of ventriculoperitoneal shunt is rare. We present this unusual complication in 5 patients. The lower end of the shunt was extruded from right lumbar region, cervical area, umbilicus and rectum. The cause of such extrusion is not known. The patients were managed by shunt removal followed by shunt replacement on the opposite side.

Esophageal atresia: Factors influencing survival - Experience at an Indian tertiary centre.

OBJECTIVE: To study the clinical profile of the cases of esophageal atresia (EA) and/or tracheoesophageal fistula (TEF) and various factors affecting the surgical and early postoperative management and their outcome. MATERIALS AND METHODS: A prospective analysis of 127 cases of EA from February 2004 to May 2006 was performed. Waterston prognostic criteria were used for grading. RESULTS: EA with TEF was the commonest type in 117 cases (92%). Associated congenital anomalies were present in 52 (41%) patients, the commonest being the cardiac anomalies, which was followed by the gastrointestinal anomalies. VACTERL was found in 6 (5%) cases. Prematurity, associated congenital anomalies, gap between esophageal ends and preoperative respiratory status were the significant factors affecting the survival (P = < 0.001). Primary extrapleural repair was the surgical approach in most of the patients. Azygos vein was preserved in 46 cases and no retropleural drainage was used in 27 cases. Staged procedures were performed in 19 cases, including 6 cases of isolated esophageal atresia. Pneumonitis and sepsis were the most common early postoperative complications (42%). Hypoxia and cardiorespiratory arrest were the most common causes of mortality (11 cases). Anastomotic leak complicated 13 cases, including 9 major and 4 minor leaks. Major leak followed by sepsis caused 7 deaths. Survival as per Waterston criteria was 100% in group A, 83% in group B and 22% in group C. CONCLUSION: Factors affecting the survival are major or life-threatening associated anomalies, long gap, pneumonia and sepsis at presentation or that acquired during hospitalization and major leaks. The high incidence of low birth weight, delayed diagnosis, poor referral, low-socio economic status and lack of advanced neonatological back up are important contributory factors to poor outcome.

Azygos vein preservation in primary repair of esophageal atresia with tracheoesophageal fistula.

The aim of this study is to report a series of patients with the Azygos vein preserved during the surgery for esophageal atresia with tracheoesophageal fistula (EA&TEF), highlighting the advantages in terms of survival and prevention of anastomotic leak. Ninety-six neonates with EA&TEF, admitted to the Department of Pediatric Surgery, King George Medical University between 2004 and 2006, were reviewed prospectively; the babies were randomly allocated to two groups: Group A (n = 46) in which the Azygos vein was preserved and Group B (n = 50), wherein it was ligated. The two groups were comparable in respect to sex, weight, prematurity, associated anomalies, Waterston classification, Spitz classification and distance between the pouches after mobilization. Anastomotic leak occurred in three cases (6%) in Group A and ten cases (20%) in Group B and was responsible for mortality in one (2%) case in Group A and six cases (12%) in Group B. Preservation of Azygos vein resulted in significant reduction in the number of anastomotic leaks. We propose that preservation of the Azygos vein prevents early postoperative edema of the esophageal anastomosis by maintaining the venous drainage and thus may form an additional protective factor against anastomotic leaks.

Spontaneous biliary perforation in infancy and childhood: clues to diagnosis.

Spontaneous perforation of extrahepatic bile duct is rare. The cause is idiopathic once trauma and choledochal cyst are ruled out. The condition presents a diagnostic dilemma. Preoperative recognition is necessary as early surgical intervention gives excellent prognosis. We report clinical observations made in three cases with acute presentations. Diagnosis is to be suspected by the presence of jaundice after an initial anicteric period of good health with biliary ascites. This is confirmed by bilious abdominal paracentesis, signs of peritonitis and absent free gas on X ray. The constellation of these three findings was constant in three patients. The presented paper highlights the same as reliable clues to diagnosis.