PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “ANUS, IMPERFORATE”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 523 records · Page 29Linked to original sources
PubMed2006

Symptomatic anal anomalies in chromosome 22q11 deletion syndrome: a report of three patients.

Deletion of chromosome 22q11 is a common genetic condition with varying clinical presentation ranging from neonatal fatality to patients whose presentation to medical services will be prompted after a few years by speech delay or mild developmental concerns. While most published data relating to patients with 22q11 deletions has focused on the "classical" presentation of the condition with cardiac manifestations, hypocalcaemia and velopharyngeal insufficiency, a much wider range of clinical presentations can characterise this syndrome. Anal anomalies, comprising imperforate anus and symptomatic anal stenosis, are a rarely described presentation of this multisystem disorder. In this report we document three patients presenting to paediatric services with symptoms attributed initially to symptomatic anal stenosis/atresia.

Anal Canal↗
PubMed2005

Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature.

UNLABELLED: The urorectal septum malformation sequence (URSMS) consists of multiple systems anomalies including ambiguous genitalia, the absence of a perineal opening, an imperforate anus, and urogenital, colonic and lumbosacral anomalies. We describe a 3-day-old female infant with characteristic URSMS and review its clinical manifestations, outcomes and putative pathogenesis. We also compare its characteristics with those of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia (VATER) association. CONCLUSION: Although defects of the urorectal septum malformation sequence and the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association overlap, we believe that they are separate entities. Differentiating the urorectal septum malformation sequence from vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association is helpful to develop appropriate clinical investigations and search for the aetiology and pathogenesis of these diseases.

Abnormalities, Multiple↗
PubMed2000

Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.

A 14-year-old African-American boy had chronic renal failure and Townes-Brocks syndrome (TBS). There were no affected family members. Features were imperforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, rocker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss, hypospadias, bilateral renal hypoplasia, and progressive chronic renal failure. Renal and urological anomalies in TBS include renal hypoplasia, renal dysplasia, unilateral renal agenesis, horseshoe kidney, posterior urethral valves, uretero-vesical reflux, and meatal stenosis. TBS is caused by a dominantly inherited defect in the gene encoding the SALL1 putative transcription factor, a protein possibly required for urological, renal, limb, ear, brain, and liver development. This patient had a novel mutation in this gene. The extent of renal involvement in patients with TBS should be evaluated for optimum treatment and prediction of prognosis.

Abnormalities, Multiple↗
PubMed2004

Anorectal agenesis with a rectourethral fistula diagnosed in an adult: report of a case.

We report an unusual case of anorectal agenesis with a rectourethral fistula diagnosed in a 48-year-old man. The patient presented after noticing hematuria, although he had been aware of urinary leakage from his colostomy with occasional fecal urine for about 4 years. He had had a double-barrel colostomy created soon after birth for an imperforate anus, with revision at the age of 4 years to correct a prolapse of the stoma, but his malformation had never been repaired. We performed a physical examination, which did not reveal a perineal fistula, but urethrocystography demonstrated high anorectal agenesis with a rectourethral fistula. Thus, we resected the rectourethral fistula and created an end-colostomy. The patient had an uneventful postoperative course, and was discharged in good health on postoperative day 19. To our knowledge, this is the oldest patient to be diagnosed with anorectal agenesis and undergo resection of a rectourethral fistula.

Anus, Imperforate↗
PubMed2001

VATER association: is it recognised by rheumatologists?

The authors describe an adult patient with history of chronic low back pain and recurrent prostatitis, marked limitation of lumbar spine motion and a radiograph demonstrating fused lumbar vertebrae, which suggest a diagnosis of spondylarthropathy. However, the absence of radiographic evidence of sacroilitis, the nature of the vertebral defects and a history of imperforate anus pointed towards the diagnosis of VATER association, rather than a spondylarthropathy. Although most patients with VATER association are diagnosed during infancy, the musculoskeletal anomalies can be overlooked while the potentially life-threatening problems are under treatment. These anomalies may become evident later in life. Therefore, in a rheumatologic practice, when evaluating patients with back pain and vertebral anomalies, one should become familiar with the varied manifestations of VATER association.

Abnormalities, Multiple↗
PubMed1977

Surgical management of urogenital sinus abnormalities.

This report describes 12 cases of urogenital sinus malformations and their management in female infants, 10 with imperforate anus. Excluded were cases of urogenital sinus malformation secondary to the adrenogenital syndrome or primary sexual ambiguity. Immediate definition of the anatomy by appropritae endoscopy and radiography is essential to plan the correct operative approach. This can be a relatively simple flap vaginoplasty from below, together with perineal anoplasty in some cases. Others may require an extensive combined abdominal-perineal approach with vaginal pullthrough, ureteral reimplantation, creation of a urethra from the urogenital sinus, resection of vaginal septum, and creation of perineal skin flaps to join to the pulled through vagina which may be too short to reach the perineum.

Adolescent↗
PubMed1990

Does the distal rectal muscle in anorectal malformations have the functional properties of a sphincter?

Smooth muscle strips from the distal rectum of 11 patients who underwent surgery for imperforate anus and cloacal malformations, were studied in vitro to assess the motility response to electrical field stimulations (EFS) and to pharmacological stimulation with adrenergic and cholinergic agonists. EFS induced a nonadrenergic, noncholinergic inhibition in most strips. Acetylcholine caused either a modest contraction, no response, or a relaxation. Following atropine administration, acetylcholine caused a nonadrenergic and tetrodotoxin-resistant relaxation. The alpha-adrenergic agonist phenylephrine induced contractions in all strips. The response was abolished by alpha-adrenoceptor blockade with phentolamine, but was resistant to atropine and tetrodotoxin. beta-Adrenergic stimulation caused a relaxation that was abolished by propranolol. Function of the distal rectal smooth muscle, resected during correction of anorectal malformations, shows similarities to the function reported previously on normal anal smooth muscle evaluated in vitro.

Adrenergic Agonists↗
PubMed1990

Postoperative intussusception in a premature infant.

Intussusception occurs most commonly between the fifth and ninth month of life. Affected infants are usually healthy and born at full gestation age. We describe a case of intussusception occurring in a 10-day-old, 700-g neonate born at 28 weeks' gestation. The diagnosis was made at laparotomy 7 days after colostomy for imperforate anus. There were three associated bowel perforations. This case demonstrates that postoperative intussusception can occur in the premature infant. It also serves to illustrate the difficulty in making the diagnosis preoperatively.

Anus, Imperforate↗
PubMed1991

Double atresia of the hindgut.

An unusual case of double atresia of the rectum, including an imperforate anus is reported. The author was unable to find a similar case published before.

Anus, Imperforate↗
PubMed1991

Gracilis muscle transposition for anal incontinence in children: long-term follow-up.

We report a series of 7 patients, aged 6.5 to 19 years (mean, 12.9), who have been treated for uncontrollable fecal incontinence since 1976: 5 had imperforate anus and multiple subsequent operative procedures, 1 had a low myelomeningocele with bi-sphincteric incontinence, and 1 had a traumatic destruction of the sphincter apparatus. A modified Pickrell procedure was performed, with the gracilis muscle transposed subcutaneously, without constructing a pulley through the median raphe as originally described. All patients were evaluated by anorectal manometry preoperatively and post-operatively. They were followed-up for a period of 0.5 to 12.5 years (mean, 4.4). All patients were continent at follow-up, with a normal defecation pattern and no enemas required. None of the patients had evidence of fibrosis of the muscle or anal canal, and tension in the transposed muscle was maintained. Voluntary contractions remain efficient in all cases. Age was thought to be an important factor: personal motivation and compliance with physiotherapy, essential for a good outcome, is unlikely to be present in the younger child. We conclude that the gracilis sling procedure is an excellent long-term alternative for total fecal incontinence when time and other therapeutic measures have failed.

Adolescent↗
PubMed1992

The bowel management tube: an effective means for controlling fecal incontinence.

Regular bowel washout enemas have been used as a method of management of fecal incontinence. The effective administration of a washout enema to a child with weak anal sphincters is often a problem. Using a new silastic balloon-tipped enema catheter (bowel management tube [BMT]) of our design, we prospectively studied its effectiveness in a group of children who suffered fecal incontinence. Thirty-one children were studied over a 1-year period. Their diagnoses included meningomyelocele (19), postoperative Hirschsprung's disease or imperforate anus (10), and other (2). Before and after starting the BMT enema system, clinical assessment and a diary, which graded the degree of fecal incontinence and satisfaction with the system, were completed. Five patients failed to benefit because of noncompliance (3) or balloon extrusion (2). Three more patients discontinued the use of the tube system. Twenty-three patients achieved successful results with this system as evidenced by a significant amelioration in their fecal incontinence and their unwillingness to give up the use of the BMT. We conclude that the use of a regular washout enemas with BMT can be an effective method for control of fecal incontinence in children.

Adolescent↗
PubMed1994

Diamond flap anoplasty in infants and children with an intractable anal stricture.

After posterior sagittal anorectoplasty for imperforate anus a prolonged course of anal dilatations is necessary until the scar softens. Although rare, severe stricture after this procedure is difficult to resolve. Y-V plasty is not entirely satisfactory because the pedicle advanced into the anus has some tension, which tends to retract producing recurrent stricture. The authors performed a diamond-shaped island anoplasty in eight children with postoperative and strictures (one after an unsuccessful Y-V plasty), with prompt resolution of the stricture in five. The island flap anoplasty consists of a diamond-shaped flap of skin formed laterally, with complete separation of skin and subcutaneous attachments around the periphery of the flap. The skin island is supplied with blood from the deep tissue. An incision is made through the scarred anal ring and into the mucosa, a distance of half the length of the diamond, which is then advanced into the mucosal defect. The defect lateral to the advanced flap is sutured closed. The island of skin descends naturally into the anus, under no tension. The procedure can be performed simultaneously in the 3 o'clock and 9 o'clock positions, and can later be repeated anteriorly and posteriorly, although this has not been necessary. Two of the eight children have required no dilatation postoperatively, a distinct advantage in the 4-year-old patient. One segment in one child sloughed, resulting in repeat stricture that is responding to dilatation. The other seven children are doing well with their colostomies closed.

Anus, Imperforate↗
PubMed1995

MR of terminal myelocystoceles.

PURPOSE: To delineate the clinical and MR findings in children with an unusual type of spinal dysraphism, the terminal myelocystocele. Infants with a terminal myelocystocele carry a favorable neurologic prognosis if the entity is diagnosed early. Understanding the MR characteristics of this entity will allow for earlier and more accurate diagnosis. METHOD: Analysis of the medical charts and MR studies in 15 children with surgically and histologically proven myelocystocele. RESULTS: In all 15 children, MR demonstrated the primary findings of a terminal cyst of the central canal of the spinal cord which is tethered and herniated with arachnoid and cerebrospinal fluid through an area of spinal dysraphia onto the back as a mass. Of these children, 10 had additional findings (one or more) on MR of Chiari I (five cases), Chiari II (one case), cervicothoracic hydromyelia (two cases), lumbar hydromyelia (two cases), hydrocephalus (2 cases) segmentation anomalies of vertebrae (3 cases) and partial agenesis of sacrum (six cases). Of the clinical findings, all 15 children had a back mass, 10 also had cloacal exstrophy. One had imperforate anus, 10 were girls, five had ambiguous genitalia and all were neurologically intact. CONCLUSION: Children with a terminal myelocystocele present with a back mass and there is a high association with cloacal exstrophy. MR is the best noninvasive modality to diagnose all of the components of a terminal myelocystocele and the associated central nervous system findings.

Anus, Imperforate↗
PubMed2006

Burns caused by fan heater used for managing post-operative hypothermia in a premature neonate.

Generally fan forced area heaters are considered to be incapable of causing burn injury. A case is presented where such a heater was used to prevent post-operative hypothermia after cut-back anoplasty to correct low anorectal malformation (imperforate anus) in a premature neonate. The neonate sustained dermo-epidermal (second degree) burns to the abdominal wall and right forearm which were swaddled with cloth and deep (third degree) burns to the fingers of left hand that were exposed as intravenous line was inserted at dorsum of the hand.

Anus, Imperforate↗
PubMed2004

Bowel vaginoplasty in children: a retrospective review.

BACKGROUND/PURPOSE: There are numerous congenital genitourinary conditions that result in vaginal agenesis or atresia. Reconstruction presents a challenge to the surgeon who wishes long-term functional and cosmetic results with low morbidity. Historically, reconstruction has involved the use of skin grafts and nonoperative methods with less than ideal results. The preference of the authors is to use intestinal segments for creating the neovagina and herein review their experience with this procedure. METHODS: The authors identified 10 children who underwent vaginal construction with intestinal segments from 1996 to the present. Patient charts were reviewed for etiology, procedure performed, operative and postoperative complications, and follow-up. RESULTS: Average age at surgery was 10.9 years (1 to 29 years). Of the 10 children, 3 required vaginal construction for cloacal extrophy, and 7 had vaginal atresia of various etiology. Sigmoid colon was utilized in 6 cases, ileum in 2, and, in 2 patients with high imperforate anus, their mucous fistula segment was used to create the vagina. Mean follow-up was 24 months. Complications included a right ureteral injury necessitating placement of an indwelling ureteral stent and a girl presenting with cyclic pelvic pain who required reanastomosis of the neovagina to the uterus for an obstructed cervical os. CONCLUSIONS: Intestinal segments can be used successfully for creation of a neovagina with exceptional cosmetic results and an acceptable complication rate. In appropriate patients, the mucous fistula can be used to create the vagina obviating the need for a bowel anastomosis.

Abnormalities, Multiple↗
PubMed2003

Deficient motor innervation of the sphincter mechanism in fetal rats with anorectal malformation: a quantitative study by fluorogold retrograde tracing.

BACKGROUND/PURPOSE: Deficiency of motoneuron innervation to the sphincter mechanism has been described in patients with anorectal malformation. Whether this event is primary or secondary remains unclear. METHODS: The authors quantified the motoneuron innervation of the sphincter mechanism by Fluorogold (FG) retrograde tracing experiment in fetal rats with anorectal malformation. Anorectal malformation was induced in rat fetuses by ethylenethiourea (ETU). Serial longitudinal sections encompassing the whole width of lumbosacral spinal cord were examined. The number of FG-labelled motoneurons were scored and compared between male fetuses with or without malformation in the ETU-fed group and normal controls. RESULTS: The number of FG-labelled motoneurons in the fetuses without defect, with imperforate anus (IA), with neural tube anomalies (NTA), with combined IA and NTA, and normal controls were determined to be (mean +/- SEM) 109.13 +/- 37.88, 55.05 +/- 25.85, 48.20 +/- 30.34, 54.43 +/- 28.55, and 135.22 +/- 28.78, respectively. FG-labelled motoneurons in the fetuses with IA, NTA, and combined IA and NTA are significantly fewer than that in fetuses without defects (P <.05) and in normal controls (P <.005). CONCLUSIONS: These findings suggest that defective motoneuron innervation to the sphincter mechanism is a primary anomaly that coexists with the alimentary tract anomaly in anorectal malformation during fetal development. The intrinsic neural deficiency is an important factor likely to contribute to poor postoperative anorectal function despite surgical correction of anorectal malformation.

Anal Canal↗
PubMed1978

Vesicointestinal fissure revisited.

This complicated anomaly of bladder exstrophy, intestinal fistula, and various degrees of colonic atresia with imperforate anus is readily recognizable. The long-term result of conventional management has been disappointing. Fecal and urinary incontinence have been unavoidable and a source of disappointment to patients and parents. An alternative method of total management is detailed. This variation of management may result in earlier and more complete social acceptability of the child so afflicted. At as young an age as possible, the vesicointestinal connection is detached and the bladder defect as well as the intestinal opening closed. The short colon is freed and transected at its midpoint. The right half of the colon is brought out through a separate wound as a colostomy. The distal half of the divided colon is brought out as mucous fistula on the left. This distal colonic segment is the proposed future colonic loop for urinary diversion to be fashioned in the first year of life. The exstrophied bladder is removed at a later date. Epispadias in the male may be repaired later. A Pediatric Ostomy Club has been organized to include a pediatric stomal therapist and involved nurses and physicians. The group gives the parents advice and moral support. We believe that this approach will permit the child to go to school and carry on relatively normal activity and to be socially acceptable. An overview of our total experience in the management of 25 patients with vesicointestinal fistula details the result in 9 surviving patients.

Anus, Imperforate↗