Risto Rintala

Is normal bowel function possible after repair of intermediate and high anorectal malformations

The bowel function of 46 patients who had undergone internal sphincter-saving posterior sagittal anorectoplasty (PSARP) was evaluated by a questionnaire 3 to 10 years after the closure of the colostomy. The bowel function was assessed by a multivariate scoring method. All patients had also been followed up clinically and manometrically. Seventy healthy children with a similar age and sex distribution were used as controls. Sixteen (35%) patients had bowel function scores that were within the range of the scores of healthy children (mean score of healthy children +/- SD). Another 16 (35%) patients with intermediate scores had a clinically good continence. Fourteen (30%) patients with low scores had a clinically fair or poor functional result; 3 of them required enemas because of severe constipation and 11 used protective aids or had to change underwear frequently because of daily soiling. There was a correlation between a good continence outcome and the presence of a functional internal sphincter and high anorectal resting pressure. Absence of a functional internal sphincter, severe sacral anomalies, and constipation were associated with poor functional results. It is concluded that normal bowel function after internal sphincter-saving PSARP may be expected in a significant proportion of children with high or intermediate anorectal anomalies.

Fecal continence and quality of life for adult patients with an operated high or intermediate anorectal malformation.

Fecal continence and quality of life were evaluated by a questionnaire completed by 33 patients (mean age, 35 years; 25 males, 8 females) who had undergone anorectal reconstruction for a high or intermediate anorectal anomaly between 1946 and 1962. The malformation was classified as high in 30 cases and as intermediate in three. The primary reconstruction was abdominoperineal in 23 patients and direct perineal in 10. Ten patients had undergone secondary sphincter reconstructions. Fecal-continence was assessed by the scoring system described by Holschneider. Thirty-five healthy people with a similar age and sex distribution were used as controls. Only 6 patients (18%), including all three with an intermediate anomaly, had good fecal continence. None had completely normal bowel habits. Eighteen patients (54%) had a fair continence outcome. Seven patients (21%) had complete fecal incontinence. A permanent colostomy had been performed in two patients. Urinary incontinence was reported by 11 patients (33%). Ten patients (30%) had difficulties with sexual functions. Social problems related to defective continence were found in 28 patients (85%). All controls had good fecal continence; 80% had completely normal bowel habits. The authors conclude that most adults with high anorectal malformations who have undergone abdominoperineal or direct perineal repair suffer from severely defective fecal continence and have poor quality of life.

Esophageal Morbidity and Function in Adults With Repaired Esophageal Atresia With Tracheoesophageal Fistula A Population-Based Long-term Follow-up

Objective:We assessed esophageal morbidity and relationships between surgical complications, symptoms, endoscopic findings, immunohistochemistry, and esophageal motility in adults with repaired esophageal atresia (EA). Summary of Background Data:There exist no previous population-based long-term follow-up studies on EA. Methods:Participants were interviewed, and they underwent esophageal endoscopy and manometry. Matched control subjects (n = 287) served as controls. Results:A total of 101 (42%) individuals representative of the entire study population participated at a mean age of 36 years (range, 21–57). Symptomatic gastroesophageal reflux had occurred in 34% and dysphagia in 85% of the patients and in 8% and 2% of the controls (P < 0.001 for both). Endoscopic findings included hiatal hernia (28%), Barrett′s esophagus (11%), esophagitis (8%), and anastomotic stricture (8%). Immunohistochemistry revealed esophagitis in 25%, and CDX2-positive columnar epithelial metaplasia in 21%, with additional goblet cells and MUC2 positivity in 6%. Gastroesophageal reflux and dysphagia were equally common in individuals with normal histology, esophagitis, or epithelial metaplasia. Manometry demonstrated nonpropagating peristalsis in 80% of the patients, and low distal wave amplitudes of the esophagus in all the changes being significantly worse in those with epithelial metaplasia (P ≤ 0.022 metaplasia vs. esophagitis/normal). Anastomotic complications (odds ratio [OR]: 8.6–24, 95% confidence interval [CI]: 1.7–260, P = 0.011–0.008), age (OR: 20, 95% CI: 1.3–310, P = 0.034), low distal esophageal body pressure (OR: 2.6, 95% CI: 0.7–10, P = 0.002), and defective esophageal peristalsis (OR: 2.2, 95% CI: 0.4–11, P = 0.014) predicted development of epithelial metaplasia. Conclusions:Significant esophageal morbidity associated with EA extends into adulthood. Surgical complications, increasing age, and impaired esophageal motility predict development of epithelial metaplasia after repair of EA.

Long-term pulmonary sequelae in survivors of congenital diaphragmatic defects.

Between 1948 and 1980, 107 of 164 patients survived after repair of a congenital diaphragmatic defect. Sixty of the survivors (mean age, 29.6 years; SD, 9.0 years) underwent clinical examination, chest radiography, spirometry, and diffusing capacity measurement 11 to 41 years after the diaphragmatic repair. Twenty-seven of the 60 had body plethysmography, xenon 133 radiospirometry, and a test of bronchial hyperreactivity. Subjective physical performance was below average for eight patients (13%), seven patients (12%) had asthma, and four patients (7%) reported increased susceptibility to respiratory infections. Thirty-one patients (52%) had ventilatory impairment, which was obstructive in nine (15%), restrictive in seven (12%), and obstructive and restrictive in 15 patients (25%). Nine (35%) of the 26 patients tested had bronchial hyperreactivity. The presence of ventilatory impairment and bronchial hyperreactivity correlated with the initial clinical severity of the affliction. Chest asymmetry (29 patients; 48%) and scoliosis (16 patients; 27%) were more common among patients with ventilatory impairment than among those with normal spirometric findings. Ventilatory impairment and thoracic deformities are common in adults with repaired diaphragmatic defects. Surveillance should begin in infancy and continue into adulthood.

Fecal Continence and Quality of Life in Adult Patients With an Operated Low Anorectal Malformation

Fecal continence and quality of life were evaluated by a questionnaire in 83 adult patients (mean age, 35 years; 53 women, 30 men) who underwent surgery for a low anorectal anomaly between 1947 and 1963. Fecal continence was assessed by a score described by Holschneider. Seventy-eight healthy people with similar age and sex distributions were used as controls. All controls had good fecal continence, 76% with completely normal bowel function. The aberrations in anal function found in 24% of the controls were minor, such as constipation or occasional slight smearing. Only 60% of the patients who had a low anorectal anomaly had good continence and completely normal bowel function was observed in 15%. Male patients had a slightly better outcome than females. Social problems related to deficient fecal control were reported by 39% of the patients. In addition, 13% of the patients had difficulties in sexual functions. Other health problems were reported by 52% of the patients. Social or sexual problems associated with anal function were not reported by the control population; 6% of them had other health problems. The present controlled study shows that at the adult age, a significant proportion of patients with low anorectal anomalies suffer from deficient fecal control and a diminished quality of life.

Chronic esophagitis and gastric metaplasia are frequent late complications of esophageal atresia

Long-term follow-up examination with esophagogastroduodenoscopy was performed on 39 esophageal atresia patients 2 to 11 years (mean, 7.6) after the anastomotic operation. Nine of these patients had undergone fundoplication for symptomatic gastroesophageal reflux. The subjective results at the last follow-up were as follows: excellent in 25, good in 10, and fair in 4 patients. The endoscopic findings were normal in 17 patients. Endoscopy of the remaining 22 patients showed esophagitis in 20, 5 associated with Barretts change. Hiatal hernia was found in 10 patients. The fundoplication was totally or partially disrupted in 3 patients. Esophageal biopsies were obtained from 37 patients. The histological findings were as follows: esophagitis in 21, gastric metaplasia in 3, and normal esophageal mucosa in 13 patients. The endoscopic and histological findings correlated poorly with subjective results as more than half of the patients with excellent subjective results had esophagitis, one of them with gastric metaplasia. Therefore, long-term endoscopic follow-up of all esophageal atresia patients is warranted.

Cervical Barrett's esophagus: A common complication of gastric tube reconstruction

Upper gastrointestinal endoscopy was performed on 14 of our 18 long-term (more than 2 years) gastric tube esophagus survivors, with special attention paid to cervical gastric metaplasia. Barretts esophagus was found in 10 patients. In eight cases, this could also be histologically verified. Three patients had esophagitis, but no verified gastric metaplasia. Isotope reflux studies were performed on six patients, all having both endoscopically and histologically shown pathology in the cervical esophagus. Reflux was provoked by putting patients in different positions. Only one patient showed gastrotubal reflux, and only in the prone Trendelenburg position. We conclude that Barretts esophagus is a common complication of gastric tube patients, and is probably due to acid secreted by the tube itself. Life-long endoscopic follow-up of these patients is warranted.

Chest wall and spinal deformities in adults with congenital diaphragmatic defects

Between 1948 and 1980, 107 of 164 patients survived after repair of congenital diaphragmatic defects. To study chest wall and spinal deformities among these patients, 60 survivors (mean age, 29.6 +/- 9.0 years) underwent clinical examination, chest and spinal radiography, spirometry, and diffusing capacity measurements. Twenty-seven of these patients also had body pletysmography, xenon 133 radiospirometry, and a test for bronchial hyperreactivity. Chest asymmetry was present in 29 patients (48%). Eleven patients (18%) had pectus excavatum, and one had a pectus carinatum deformity. Anterior asymmetry, pectus deformities, and a flat chest were more common among the patients who initially had a large diaphragmatic defect. Two patients underwent anterior thoracoplasty because of their deformities. Sixteen patients (27%) had significant scoliosis (Cobb angle > or = 10 degrees). Scoliosis was more common in patients with ventilatory impairment than in those with normal lung function. One patient required spinal stabilization, one with severe kyphoscoliosis remains under observation, and a patient with moderate scoliosis was treated with a spinal brace. The results of this study indicate that chest wall deformities and scoliosis are common among adults with repaired congenital diaphragmatic defects. In most patients the deformity is mild, but some will require surgery. Surveillance until adulthood is appropriate.

Testicular tumors in children and adolescents

OBJECTIVE To analyze the spectrum of testicular tumors in children in an unselected population-based series, as well as the results of testis-preserving surgery. PATIENTS AND METHODS Our hospital database was analyzed for operations for testicular tumors from 1981 to 2006. The clinical data and findings during follow up (4.7 years) were recorded. RESULTS Thirty-four patients were operated on because of testicular tumors. In 23 (68%) the tumor was benign: benign teratoma (16), Leydig-cell tumor (2), epidermoid cyst (2), Sertoli-cell tumor (1), cystic dysplasia (1), intratesticular focal fibrosis (1). Eleven patients (32%) had a malignant tumor: yolk-sac tumor (6), embryonal carcinoma (5). Twenty out of the 26 (77%) prepubertal boys had a benign tumor in contrast to only three of the eight (38%) adolescent males (P=0.079). Testis-preserving surgery was performed in 10 patients. In eight, the tumor was curatively excised and remaining testis preserved. Two patients with benign teratoma had a recurrence due to incomplete primary resection. In one patient who underwent orchiectomy for benign teratoma, two metachronous teratomas were detected in the contralateral testis 6 years after primary surgery. CONCLUSIONS In children, most testicular tumors are benign, especially before puberty. If testis-preserving surgery is contemplated, complete excision of the tumor should be ascertained. The possibility of metachronous bilateral tumors should be considered in the follow up of testicular teratomas.

Bowel function and gastrointestinal quality of life among adults operated for Hirschsprung disease during childhood: a population-based study.

Objective: To assess bowel function and gastrointestinal quality of life among adults with operated Hirschsprungs disease (HD). Summary Background Data: Outcomes of HD extending to adulthood are unclear; bowel function and quality of life may deteriorate by aging. Methods: Bowel function and gastrointestinal quality of life were cross-sectionally assessed in a population-based manner among adults operated for HD during childhood between 1950 and 1986. Patients were interviewed during their outpatient visit. Controls matched for age and sex were randomly chosen from the Population Register Centre of Finland. Results: Ninety-two (64%) patients representative for the entire study population responded. The mean age of patients (79% male) was 43 (interquartile range [IQR], 35–48) years. Most (78%) had undergone Duhamel operation, and 94% had aganglionosis confined to the rectosigmoid. The mean overall bowel function score was decreased among patients (17.1 ± 2.8 vs 19.1 ± 1.2; P < 0.0001). They reported increased incidence of inability to hold back defecation (40% vs 17%), fecal soiling (48% vs 22%), constipation (30% vs 9%) and social problems related to bowel function (29% vs 11%; P < 0.05 for all). Gastrointestinal quality of life was only marginally lower among patients (121 ± 15.3 vs 125 ± 13.1; P = 0.0578) mainly because of significantly lower scores in questions assessing disease-specific factors such as bowel function and continence. Age was the only predictor of poor bowel function (OR 1.07, 95% CI 1.00–1.14, P = 0.049), which weakly predicted gastrointestinal quality of life (OR 0.81, 95% CI 0.66–1.01, P = 0.055). Conclusions: Although bowel function deteriorates with increasing age after operated HD, it is associated with only slightly decreased gastrointestinal quality of life.