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The value of transperineal injection for the diagnosis of imperforate anus.

Imperforate anus is one of the most common causes of intestinal obstruction in the newborn and the exact estimation of the level of the blind rectal pouch is of primary importance. We present 11 cases of imperforate anus and demonstrate the accurate location of the rectal pouch by transperineal injection of contrast media. This method shows an advantage in comparison to the classical plain roentgenogram in the inverted position of the baby. No unnecessary colostomies were performed since intraduction of the transperineal injection. The method is simple and there were no complications due to injection 10-15 cc of 20% Hypaque. Further studies are not in progress to demonstrate the presence or absence of an associated internal fistula in all cases.

Anus, Imperforate

Importance of cystourethrography in neonates with imperforate anus.

Infants born with imperforate anus have a high incidence of genitourinary anomalies. Vesicoureteral reflux was the most common abnormality in this series. Since these patients often have bacteriuria, this is an important finding. An intravenous pyelogram and voiding cystourethrogram should be part of the evaluation of each neonate with imperforate anus. Persistent cloaca, a frequent finding in the female patients, may require special diagnostic attention.

Anus, Imperforate

Urologic problems associated with imperforate anus.

A total of 120 children with both high, intermediate, and low types of imperforate anus were evaluated urologically. Genitourinary anomalies were associated with all types of imperforate anus but were found more often in children with high rectal deformities. Because the over-all incidence of genitourinary anomalies was high, early and complete urologic evaluation is necessary to achieve the best functional result.

Adolescent

Hyperchloremic acidosis and imperforate anus.

The predominant electrolyte imbalance associated with enterourinary fistulas is hyperchloremic acidosis. The mechanism is the absorption of urinary electrolytes across the colonic mucosa. One of the genitourinary associated anomalies of a high imperforate anus is a rectourinary fistula. There have been 5 cases of hyperchloremic acidosis as a complication of an imperforate anus with a rectourinary fistula reported in the literature to date. An additional case is presented with a clinical analysis of the previously reported cases. The important factors in the development of hyperchloremic acidosis in patients with an imperforate anus are 1) the presence of a rectourinary fistula, 2) an initial diverting colostomy permitting a long segment of colonic mucosa for the absorption of urinary electrolytes, 3) distal urinary tract obstruction allowing significant volumes of urine to flow into the colonic segment and 4) the presence of urinary tract infection contributing to the urinary obstruction. Management should consist of vigorous electrolyte therapy, decreasing the retrograde flow of urine into the colon by temporary catheterization and early repair of the fistulous tract.

Acidosis

Imperforate anus and colon calcification in association with the prune belly syndrome.

Two patients with the prune belly syndrome demonstrated colon calcifications and anorectal malformations. Bladder outlet obstruction was present in both cases. Calcifications were also found in the renal collecting system and bladder of one patient. No fistula was demonstrated between the genitourinary tract and bowel in either infant at autopsy. The calcification in the colon and urinary tract is probably secondary to stasis.

Abdominal Muscles

A clinical and manometric correlation for assessment of postoperative continence in imperforate anus.

Functional results after surgical correction of anorectal malformations were assessed on a clinical basis following Kelly score and by manometric study. Forty-six patients, aged 2--17, were personally interviewed and 25 of these 46 had manometric studies to evaluate postoperative continence. The manometric study was also performed on 35 normal children as a control group. Continent patients characteristically had marked high pressure zones as did the normal subjects. On the other hand, in the patients with fair or poor results, the anorectal pressure profile had no marked high pressure zone in the anal canal. The presence of normal anal pressure at rest as well as adequate ano-rectal pressure difference was found to correlate well with continence. In patients with perineoplasty, the ano-rectal reflex correlated well with continence but not in patients treated by abdominoperineal rectoplasty.

Adolescent

Imperforate anus.

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Anus, Imperforate

Imperforate anus: an analysis of mortalities during a 25-year period.

A careful analysis of 53 deaths in a series of 284 patients suggests the following points are important in reducing risk: 1. Imperforate anus is a complicated lesion which should only be done by experienced surgeons in a large-volume pediatric surgical center in order to avoid the wrong choice of procedure. 2. A careful colostomy technique is essential to avoid herniation, prolapse, evisceration or obstruction. 3. Hyperchloremic acidosis from a large rectourinary fistula into the distal blind pouch of a colostomized high type lesion must be watched for. 4. The mucocutaneous junction (natural or surgical) must be kept free from stenosis to avoid fecalomas or enterocolitis-sepsis sequelae. 5. Neonatal pullthrough should be avoided as they carry an increased risk, make handling of fistulas difficult, and may lead to the placement of the bowel outside of the continence muscles.

Abnormalities, Multiple

[Incontinence after repair of imperforate anus : treatment by a free muscle transplant (author's transl)].

A case of severe anal incontinence after multiple surgical repairs for ano-rectal imperforation is presented. A successful formation of a new puborectalis sling by means of free autogenous palmaris longus muscle transplantation according to Hakeliuis is reported. The clinical success is confirmed radiologically and electromyographically. The authors discussed the principles and the results of this new method. They believe that this case pleads in favour of true muscle autotransplant re-innervation.

Anus, Imperforate

The management of a fistula between the rectum and the lower urinary tract.

Ten boys with a fistula between the rectum and the urinary tract are presented. Six resulted from complications of imperforate anus surgery, three were various congenital abnormalities, and one was associated with an inflammatory pelvic mass. The management of these patients is described and the problems are discussed.

Anus, Imperforate

Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 leads to 7p21.

We report an uncle and niece with duplication and deletion, respectively, of segment 7p15 leads to 7p21 originating from a balanced, intrachromosomal insertion in their mothers. The proposita had prenatal and postnatal growth deficiency, retarded psychomotor development, microcephaly, wide cranial sutures, ocular hypertelorism, small palpebral fissures, apparently low-set and malformed ears, cleft palate, congenital heart defect, hypoplasia of the distal phalanx of first fingers, rocker-bottom feet, persistent cloaca, and imperforate anus. She died at three months. Her maternal uncle has duplication of this segment and is alive at 32 years. He has severe mental deficiency, but normal growth; communicating hydrocephalus was diagnosed at three months.

Abnormalities, Multiple

The spectrum of the DiGeorge syndrome.

Clinical and autopsy data on 25 patients with DiGeorge syndrome and its variants are presented. Congenital heart disease was the most common presenting complaint; 15 patients came to medical attention in the first 48 hours of life because of cyanosis, cardiac murmurs, or tachycardia and tachypnea. Two unusual anomalies, interrupted aortic arch or truncus arteriosus, were seen in 17 patients. Clinically documented hypocalcemia associated with seizures was seen in ten patients, with a median age at onset of eight days. Fifteen of our 25 patients died at less than one month of age. Most of the patients surviving the first month of life developed purulent rhinitis, maculopapular rashes, failure to thrive, and developmental delay. Sixteen patients had major congenital anomalies not localized to the anterior neck and thorax; these anomalies included arhinencephaly, cleft lip, palate, or uvula, diaphragmatic abnormalities, hydronephrosis, malrotation of the gut and imperforate anus. The 24 autopsied cases constitute 0.7% of the 3,469 sequential postmortem studies done in the period 1950--1975 at The Children's Orthopedic Hospital and Medical Center.

Autopsy