Biomedical subjects

R J Rintala

Publications and source records attributed to R J Rintala.

31 records · Page 2Linked to original sources

PubMed1998

Cryptorchidism in boys with congenital abdominal wall defects.

Cryptorchidism (CPT) has been suggested to be common in boys with congenital abdominal wall defects (CAWD). It has been hypothesized that the low intra-abdominal pressure in both omphalocele (OMP) and gastroschisis (GS) and brain malformations in patients with OMP contribute to the high incidence of CPT. To determine the incidence of CPT in boys with OMP and GS and to assess the relationship of CPT to the size of the AWD, prematurity, and concomitant anomalies, the hospital records and autopsy reports of 113 boys with CAWD (OMP n = 75; GS n = 38) were reviewed. Twelve (16.0%) boys with OMP had undescended testes; 5 (41.0%) of those had bilateral and 4 (23.5%) intraabdominal undescended testes. The occurrence of CPT in OMP patients did not correlate with the size of the AWD, birth weight, or gestational age. However, congenital cardiac anomalies and cleft lip and palate were significantly more common (P < 0.05) among those with CPT. Two (5.0%) boys with GS, both of whom were born prematurely, had unilateral CPT. In patients with OMP, the incidence of CPT was significantly higher than that of healthy children. There was a correlation between CPT and congenital midline defects such as cardiac anomalies and cleft lip and palate. In patients with GS, the incidence of CPT only slightly exceeded that of normal children and may have been related to prematurity.

Abdominal Muscles↗

PubMed1998

Congenital diaphragmatic hernia--does the side of the defect influence the incidence of associated malformations?

BACKGROUND/PURPOSE: Patients with congenital diaphragmatic hernia (CDH) frequently have associated anomalies. Experiments in the nitrofen CDH model have shown differential embryonic cell death patterns in rodents suggesting unique mechanisms in the formation of right-sided (RCDH) or left-sided (LCDH) diaphragmatic hernia. These findings provide insight into the pathogenesis of CDH and may aid our understanding on the spectrum of associated anomalies commonly observed in humans. This study therefore set out to test the hypothesis that the side of the diaphragmatic defect in humans is related to the incidence and severity of coexistent organ malformations. METHODS: The medical and autopsy records of 301 CDH patients presenting to two institutions over a 23-year period were examined to analyze these factors. RESULTS: One hundred patients (33%) were found to have one or more associated anomalies. The incidence of multiple-RCDH (10%) versus LCDH (7.3%) and cardiac anomalies-RCDH (10%) versus LCDH (8.5%) was similar in both groups of patients. However, the hypoplastic heart syndrome was a unique feature in 5 of 22 patients (23%) with LCDH who had cardiac abnormalities. This cardiac anomaly may be related developmentally to LCDH. CONCLUSION: The cellular mechanisms underlying the genesis of this spectrum of abnormalities in humans and the nitrofen CDH model warrant further study to elucidate factors governing embryonic cell fate and phenotype expression.

Abnormalities, Multiple↗

PubMed1998

Delayed maturation of the interstitial cells of Cajal: a new diagnosis for transient neonatal pseudoobstruction. Report of two cases.

The case histories of two neonates presenting with intestinal pseudoobstruction are presented. One boy infant was premature and the girl infant was full term. Both patients needed a defunctioning ileostomy, and biopsy findings of the intestine in both patients showed a lack of interstitial cells of Cajal (ICC). At the time of closure of the ileostomies to restore intestinal continuity, repeat biopsy results showed a normal pattern of distribution of ICC. Delay in the development of ICC in the gastrointestinal tract may be a cause of intestinal pseudoobstruction in the newborn.

Colon↗

PubMed1998

Abnormal colonic interstitial cells of Cajal in children with anorectal malformations.

BACKGROUND/PURPOSE: Constipation is a frequent functional problem in children after operation for all types of anorectal malformations. Although this has been assumed to be caused by hypomotility of the rectosigmoid colon, recent studies have demonstrated generalized colonic hypomotility in children with high or intermediate anomalies. The cause of this disorder is unknown. The aim of this study was to determine whether the observed colonic hypomotility seen in patients with anorectal malformations was caused by defects in distribution or density of interstitial cells of Cajal (ICC), recently identified as 'intestinal pacemaker cells'. METHODS: Colostomy specimens from 12 patients with high anorectal anomalies (ARM group; age 0 to 14 months) were compared with colostomy specimens from five control patients with nonmotility-related gastrointestinal pathology (age, 1 to 4 months). Specimens were immunohistochemically labelled with antibodies to PGP9.5, a marker for neural tissue, and antibodies to c-kit, a recently characterized marker for interstitial cells of Cajal (ICC). RESULTS: Ganglion cells were present in all histological specimens. Abnormalities in distribution and density of c-kit-positive ICC were present in 7 of 12 ARM patients. In two ARM patients, ICC were completely absent, and in five patients, ICC density was markedly reduced in circular muscle and at the submucosal border of circular muscle. Only five ARM patients had a distribution of ICC similar to that of control patients. CONCLUSION: Defects in the population of intestinal pacemaker cells may underlie the colonic hypomotility seen in high anorectal malformations and hence may contribute to refractory constipation.

Anus, Imperforate↗

PubMed1998

Functional results following the antegrade continence enema procedure.

BACKGROUND: Forty children who underwent the antegrade continence enema (ACE) procedure for faecal soiling were studied to determine factors predictive of outcome. METHODS: There were four patient groups: (1) ambulant with spinal dysraphism (n = 13), (2) wheelchair bound with spinal dysraphism (n = 14), (3) ambulant with miscellaneous disorders (n = 11) and (4) wheelchair bound with miscellaneous disorders (n = 2). Effectiveness of the procedure was assessed using technical evaluation and quality-of-life improvement (QOLI) scores (0-5). Objective assessment included colonic transit time (CTT) and anorectal manometry. Median follow-up was 21 (range 5-37) months. RESULTS: Some 28 of 40 children achieved continence. The procedure was reversed in four of 40 children. Of the other 36 children with a functioning ACE stoma, all reported improvement in quality of life (mean QOLI score 3.5). There were no significant differences in technical evaluation score, QOLI score, CTT, manometry findings or continence between ambulant groups and the wheelchair-bound group with miscellaneous disorders. QOLI score, anorectal squeeze pressure and continence were significantly poorer in those who were wheelchair bound with spinal dysraphism. Absent squeeze pressure was associated with poor outcome. CONCLUSION: Wheelchair-bound children with spinal neuropathy have a poorer outcome following the ACE procedure. Although ACE is an effective method of promoting faecal continence, it is essential to determine the aetiology of incontinence and sphincter function before operation.

Adolescent↗

PubMed1997

Segmental colonic motility in patients with anorectal malformations.

BACKGROUND: Constipation is one of the most important functional sequelae in patients with anorectal malformations. The cause of this motility disorder is unknown. AIM: The purpose of this study was to assess total colonic transit time (TCT) and segmental colonic transit time (SCT) in patients with anorectal malformations. METHOD: Ninety patients with anorectal malformations (40 low and 50 high; median age, 7 years; range, 3 to 13) and twenty-five healthy children (median age, 8 years; range, 3 to 14 years) underwent measurement of TCT and SCT by the saturation technique. Ten radiopaque markers were ingested daily for 6 days followed by administration of a single abdominal x-ray on day 7. TCT in days was calculated by dividing the number of retained markers in the whole colon by the daily intake. SCT in four colonic segments (right, transverse, left, rectosigmoid) was described as a percentage of TCT (markers in one segment versus total number of retained markers). In high anomalies the degree of rectosigmoid dilatation was assessed by contrast enemas taken before closure of the stoma and later during follow-up. RESULTS: TCT was significantly (P < .03) prolonged in patients with anorectal anomalies (median high, 2.1 days; low, 1.9 days versus 1.3 in healthy subjects). In patients with high anomalies right SCT was prolonged when compared with low anomalies and healthy subjects (median high, 24% versus low, 10% and normal subjects, 10%; P < .01). The impairment was more severe in patients with very high anomalies (P < .005). Patients with a low anomaly had prolonged rectosigmoid SCT (median low, 65% versus high, 43% and normal subjects, 49%; P < .05). Prolonged right colonic SCT and TCT correlated with symptomatic constipation in patients with high anomalies (P < .05) but not with those who had low anomalies. Impaired overall functional outcome correlated with prolonged right colonic SCT in patients with high anomalies and with prolonged rectosigmoid SCT in patients with low anomalies. There was no correlation between the degree of rectosigmoid dilatation and SCT or TCT. CONCLUSION: Patients with anorectal malformations have abnormal colonic motility. The type of motility disorder in low anomalies is rectosigmoid hypomotility. In patients with high anomalies the motility disturbance is more generalized. The overall functional outcome was strongly related to the degree of these motility disorders.

Adolescent↗

PubMed1997

Do children with repaired low anorectal malformations have normal bowel function?

PURPOSE: The authors' aim was to compare bowel function in patients who had undergone repair of a low anorectal malformation with that of normal healthy children. METHODS: The bowel function of 40 patients (29 boys, 11 girls; median age, 7; range, 3 to 13) with low anorectal malformations was evaluated by a multivariate scoring method based on a questionnaire. All patients were toilet trained for defecation and micturition. They were also evaluated clinically, and the outcome was graded as excellent (normal bowel function), good (no or minor social limitations), fair (marked social limitations), or poor (total incontinence). Fifty-four healthy children with a similar age and gender distribution were used as controls. RESULTS: Twenty-one patients (52%) with normal bowel function had continence scores within the range of the scores of healthy children (patients, 19.3 +/- 0.7 v controls, 19.1 +/- 1.3). Fifteen patients had a good clinical outcome. The mean score in this group was 16.3 +/- 2.4. Four patients with a fair outcome had a mean score of 10.5 +/- 2.9. Constipation requiring dietary or medical treatment was reported by 17 patients (42%) and four of the controls (7%). Daily soiling caused by fecal overflow was reported by four patients (10%) and none of the controls. None of the patients had urinary incontinence; occasional wetting was found in 27% of the patients and 22% of the controls (P = .56). CONCLUSION: Only half of the children with a low anorectal malformation have age-appropriate normal bowel function. Long-term follow-up of these patients to manage the main functional problem, constipation, is warranted.

Anus, Imperforate↗

PubMed1996

Congenital funnel anus.

Five patients (three children, two adults) with a congenital funnel anus are described. Congenital funnel anus is a rare anomaly; it was found in 3.5% of the children who were referred to Children's Hospital, University of Helsinki, for the treatment of low anorectal malformations between 1977 and 1993. Unlike the vast majority of patients with low anorectal anomalies, all of these patients had a huge megacolon, with consequent constipation that was refractory to conservative treatment. Resection of the dilated part of the colon and low coloanal anastomosis relieved the severe constipation in all patients.

Adult↗

PubMed1996

Restorative proctocolectomy for ulcerative colitis in children--is the J-pouch better than straight pull-through?

Proctocolectomy and ileoanal anastomosis (IAA), with or without an ileal pouch, is the preferred method for the surgical treatment of ulcerative colitis (UC) in children. The authors compared the surgical complications and functional outcome for patients with UC who had proctocolectomy and straight IAA with those of patients who had proctocolectomy and IAA with a J-pouch. Twenty-two children (aged 7 to 15 years) with intractable UC had an IAA, 11 by straight ileoanal anastomosis (SIAA) and 11 with a J-pouch (JIAA). The median clinical and endoscopic follow-up period for SIAA patients was 4 years (range, 3.0 to 6.5 years); for JIAA patients it was 2 years (range, 1 to 3 years). The frequency of daytime and nighttime defecation was significantly higher (P < .03) for patients with SIAA at 3, 6, and 12 months postoperatively. At the last follow-up visit, the mean frequency of defecation for patients with SIAA was 6.1 +/- 2.5/d; that for patients with JIAA was 3.3 +/- 0.5/d (P < .03). Six of 10 patients with SIAA but none with JIAA had nighttime bowel evacuations. None of the patients had daytime soiling; 3 with SIAA and 2 with JIAA had slight soiling during sleep. There was no significant difference in the incidence of early (SIAA 27% v JIAA 45%) and late (SIAA 54% v JIAA 27%) surgical complications between the two groups. Endoscopically confirmed symptomatic pouchitis during the first postoperative year was found in 4 of the 11 (36%) patients with SIAA and in 2 of the 11 (18%) with JIAA (difference not significant). The early and long-term functional results of JIAA are superior to those of SIAA. There is no difference in the incidence of surgical complications and pouchitis between JIAA and SIAA patients.

Adolescent↗

PubMed1996

Long-term gastrointestinal morbidity in patients with congenital diaphragmatic defects.

Recent reports indicate a significant incidence of gastroesophageal reflux (GER) and other nonpulmonary problems after the repair of congenital diaphragmatic defects. Reports of follow-up through adulthood are few and based on a small number of patients. From 1948 to 1982, 107 of 164 patients (65%) treated at the authors' institution survived after repair of congenital diaphragmatic hernia or eventration. Sixty of the 107 survivors (56%) (mean age, 29.6 years; SD, 9.0 years) were interviewed and examined clinically. Forty-one of the sixty (68%) underwent upper gastrointestinal endoscopy. Early postoperative GER was recorded for 11 of the 60 patients (18%). Two of them underwent fundoplication because of an esophageal stricture. At the time of the follow-up study, 38 of the 60 (63%) reported symptoms suggestive of GER. Endoscopic or histological GER (esophagitis, Barrett's esophagus) was present in 22 of 41 patients (54%). No significant correlation between the initial severity of the diaphragmatic defect or neonatal postoperative problems and the late GER could be verified. Intestinal obstruction requiring hospital admission occurred in 12 of the 60 patients (20%), eight of whom had surgical treatment between 1 month and 20 years after repair of the diaphragmatic defect. GER and intestinal obstruction are common among patients who have undergone repair of a congenital diaphragmatic defect. Investigations for GER should be performed routinely during the follow-up of these patients.

Adolescent↗

PubMed1996

H-type anorectal malformations: incidence and clinical characteristics.

To establish the incidence of H-type anorectal malformations (ARM), the hospital records of 629 patients with ARM were studied. Patients who had a congenital rectourogenital connection and an external anal opening in a normal or ectopic position were considered to have an H-type malformation. Twenty (3.2%; 14 females, 6 males) of the 629 patients studied had an H-type ARM. Major associated anomalies were found in 60% of these patients. Thirteen patients (12 females, 1 male) had a normally placed anus; the H fistula was low rectovestibular in 10, rectovaginal in 2, and rectourethral in 1. Seven patients had an ectopic anal opening. Three males had a rectourethral H fistula; in two of these there was a double fistula. Two males had a rectovesical H fistula. Of the two females with ectopic anal openings, one had a high rectovaginal H fistula and the other had a low fistula. In only one case was the diagnosis of H fistula made immediately after birth. Three patients died of severe cardiac abnormalities during the neonatal period or early infancy. Primary perineal repair or a limited posterior surgical anorectoplasty (PSARP) was used in 15 cases; formal PSARP was used for the other two. Four patients had between one and 4 recurrences; all but one of these fistulas were repaired subsequently. Long term (median follow-up period, 12 years; range, 4 to 38 years), 12 patients had good bowel function and no faecal soiling; four of these had constipation that was manageable with laxatives. Two patients (aged 10 and 12 years) had daily soiling. Two others were too young to evaluate, and one (with severe mental retardation) has a permanent colostomy.

Adolescent↗

PubMed1995

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.

Anal Canal↗

PubMed1995

Total parenteral nutrition-associated cholestasis in surgical neonates may be reversed by intravenous cholecystokinin: a preliminary report.

Neonatal infants who require total parenteral nutrition (TPN) after major operations are susceptible to total parenteral nutrition-associated cholestasis (TPNAC). A therapeutic dilemma ensues if cholestasis does not resolve after the institution of full enteral nutrition. The authors report the reversal of TPN-associated cholestasis by intravenous cholecystokinin in eight infants who had undergone major surgery during the neonatal period. The indications for surgery were necrotizing enterocolitis in three patients, midgut volvulus in one, gastroschisis in one, diaphragmatic hernia in one, necrosis of the stomach in one, and cardiac anomaly in one. Four of the infants were premature. Median duration of TPN was 25 days (range, 20 to 150 days). Seven patients were weaned from TPN before treatment with cholecystokinin was instituted Mean duration of pretreatment full enteral nutrition in these seven patients was 35 days (range, 20 to 55 days). One girl with short gut syndrome tolerated only 10% of her caloric needs via the enteral route. All patients had alcoholic stools, conjugated hyperbilirubinemia, no excretion of Technetium-labeled HIDA to the biliary tree or duodenum (six patients), and significantly elevated liver enzyme values. In three patients, echography showed biliary sludge or stones in the gall bladder. Porcine cholecystokinin (2 IDU/kg) was administered intravenously for 3 to 5 days. If the stool color did not normalize, cholecystokinin injections were repeated using a larger dose (4 IDU/kg). In seven patients, including the girl with short gut syndrome, the clinical jaundice and conjugated hyperbilirubinemia completely resolved within 1 to six weeks. No biliary sludge or stones were seen in the posttreatment echography in any of the patients.(ABSTRACT TRUNCATED AT 250 WORDS)

Cholecystokinin↗