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PubMed2005

Use of synaptophysin immunohistochemistry in intestinal motility disorders.

The purpose of this study was to describe synaptophysin (SY) immunoreactivity in colonic specimens from patients with Hirschsprung's disease (HD), chronic constipation (CC), or anal atresia (AA). This membrane protein is specific for the synaptic vesicles in the central and peripheral nervous system and responsible for neurotransmission. Biopsy specimens of the intestinal wall were obtained from 18 patients (age range, 2 days to 7 years). Immunohistochemistry was performed using rabbit anti-human antibodies specific for synaptophysin (DAKO). In the ganglionic colon of HD patients and others the immunoreactivity of SY-positive synapses was abundantly present in the smooth muscle layers. Distinct immunoreactivity showed ganglion cells and nerve fibers inside circular and longitudinal muscle layers. In some non-HD patients' colonic specimens SY-positive synapses were present in the muscularis mucosae. In the aganglionic colonic segment of HD-patients no immunoreactivity of synapses and ganglions was seen. In the transition zone, where ganglion cells appeared sporadically, synapses were very rarely present. In two patients from the CC group the amount of visualized synapses was clearly smaller and the concentration of ganglion cells within ganglions in these cases was much lower than usual (but still within normal ranges). In the AA group in the distal part of the atretic rectum (at the place where the fistula was cut) SY-positive synapses were present in smooth muscle layers and small dysplastic ganglions were seen in the submucosal and muscular region, but not in large numbers. These patients had a normal distribution of ganglion cells and synapses at the place of colostomy. Synaptophysin immunohistochemistry is an indirect labeling method with a high detection rate for intestinal ganglion cells by demonstrating their synapses. Changed intestinal distributions of SY-positive synaptic vesicles usually accompany colonic ganglion cell disorders. The pattern of SY-positive synapses distribution in circular and longitudinal colonic muscles and intermuscular ganglions can reflect functional disturbances of large bowel motility and could be helpful in the description of the innervation status of colonic specimens in HD patients.

Anus, Imperforate↗

PubMed1993

Heterotopic finger transfer in ulnar ray deficiency associated with contralateral postaxial polydactyly: a case report.

A case of type-I ulnar ray deficiency, combined with postaxial polydactyly of the opposite hand, is described. Heterotopic transfer of the supernumerary finger was performed, in order to improve function in the defective hand and to treat the hexadactyly of the other hand. A combination of these malformations has apparently not previously been reported in the literature.

Abnormalities, Multiple↗

PubMedDate not supplied

[Johanson-Blizzard syndrome].

Johanson-Blizzard syndrome (JBS) is an autosomal recessively inherited disorder that is characterized by pancreatic insufficiency, a distinct appearance with hypo- or aplasia of the alae nasi and dental anomalies. We report on 3 patients with JBS who demonstrate the clinical variability of additional symptoms. In contrast to the common mental retardation in JBS we stress the outstanding intellectual abilities of one patient. It is important to realize the treatable dysfunctions in JBS. Specific therapy of e.g. pancreatic insufficiency and hypothyroidism can lead to a marked improvement of the clinical course. For the first time we discuss a possible sex influence. There is evidence that females have a better prognosis. The literature is reviewed, and aspects of differential diagnosis of JBS are considered.

Abnormalities, Multiple↗

PubMedDate not supplied

[Rectum and bladder duplication with malformations of the VACTERL association].

The case of a newborn with duplications of rectum, presenting as a tumor of the labia majora, and duplication of bladder and urethra is reported. In addition malformations from the VACTERL-association (sacral malformation, anal atresia with vestibulum fistula, renal dysplasia, only eleven pairs of ribs with hypoplasia of the eleventh one, diplopodia on the left foot) were found. In the study of urogenital and enteric duplications in cases from the literature this coincidence with VACTERL malformations was found as well.

Abnormalities, Multiple↗

PubMed1993

[MRT for surgical planning in anal atresia].

We evaluated in this study the value of preoperative examinations of anal atresia with an optimised MRI strategy. 13 patients with anorectal anomalies, most of them younger than one year, underwent an MRI examination of the pelvis. 10 of these patients were operated afterwards. Compared with the situs shown by the operation the results of the MRI examination were very exact in all cases in respect of the level of atresia and the development of the striated muscle complex. Fistulas could be completely described in most cases. MRI demonstrated additional lesions in some patients which were of great importance for planning the further treatment of the patients. As a consequence MRI can give valid information on anal atresia for planning the operative treatment.

Anal Canal↗

PubMedDate not supplied

[Associated abnormalities in the VACTERL syndrome--case report with autopsy findings].

We report on a male newborn with a VACTERL-association. Our patient had the characteristics of the syndrome: vertebral defects, anal atresia, cardiac anomalies, tracheal stenosis and radial dysplasia. In addition to this combination of malformations we have found a left pulmonary artery sling, cholecystaplasia and biliary dysplasia-not previously reported. Etiology, embryology, coincidence and differential diagnosis are discussed.

Abnormalities, Multiple↗

PubMed1989

[Epithelium and anal glands in rectal pouches and fistula. Histologic studies of swine with congenital anal atresia].

The epithelial coating of the rectal pouch and fistula was studied morphologically in 33 newborn piglets with high and low forms of anal atresia and was found to be similar to the epithelial coating of the anal canal in normal piglets: the typical epithelium of the rectum changed its character into transitional epithelium at the region of the internal sphincter which surrounded the fistulae in all animals. In the caudal part of the fistula the transitional epithelium was followed by squamous epithelium. Only in male piglets with deformities and recto-urethral fistulae no squamous epithelium was found. In these cases transitional epithelium covered all parts of the fistula and the region of the internal sphincter. Anal glands were found in all animals, with or without anorectal malformations. They always invaded the internal sphincter. According to our morphological studies the fistula in anorectal malformations represents an ectopic anal canal.

Anal Canal↗

PubMed1989

[Improving anal continence performance by intensive continence training].

Ten children of six to sixteen years with anal incontinence following anal atresia were treated with a conservative intensive continence training programme for a period of 6 to 18 months. The continence efficiency distinctly improved by an optic and acoustic biofeedback conditioning, transcutaneous electrostimulation of the pelvic muscles, by physical examinations and a sensibility training, as well as by contraction exercises. Not only the partial continence ability with low atresia but also the incontinence with high anal atresia could be improved to a level of continence, especially short-time continence. The essential success is based on an improvement of the strength and duration of the muscle contraction, of the sensible perception and of the nerval coordination of the pelvic muscles. After two weeks of therapy, 90% of the possible maximum increase had already been achieved. Thus, an evaluation of the training success was possible. This continence training programme proved an ideal supplement to surgical therapy. Even if other methods of therapy are exhausted, continence training is indicated for the improvement of anal sphincter function.

Adolescent↗

PubMed1986

Comparison of results of anorectal manometry performed after surgery for anorectal malformations and repeated three years later.

Anorectal manometry was performed in 27 patients 2 to 16 years after surgical correction of anorectal malformations and again 3 years after the initial examination. Further clinical improvement from faecal incontinence to normal bowel habits was observed in 3 of 11 patients with high anomaly. All of these 3 patients received special physiotherapeutic training from 3 months to 1 year during the two examinations. At the second examination these 3 patients had an anorectal pressure difference of more than 10 cmH2O, which is almost normal, and one of the 3 patients had developed an anorectal reflex. These results suggest that the functioning puborectalis muscle, which had been left intact during surgery, might be reinforced by physiotherapeutic training.

Anal Canal↗

PubMed1986

[Vascular supply of the rectum in anal atresia. Angiography studies in newborn swine].

In 15 piglets with anorectal malformations (high and low anomalies) we performed angiographies of the pelvic arterial system. 3 healthy animals were used as control group. None of the animals had isolated rectal atresia which is assumed to be due to vascular disorders. In all animals we could demonstrate normal superior and inferior rectal arteries. Thus our results support the hypothesis that anorectal malformations, with the exception of isolated rectal atresia, are not associated with vascular malperfusion during embryogenesis.

Angiography↗

PubMed1988

[The Currarino triad--a study of 4 cases].

Report on 4 cases of a rare syndrome known as Currarino triad. The features of this triad consist of constipation, anorectal malformations, presacral masses and a curved defect of the os sacrum (scimitar defect). Currarino was the first to detect autosomal-dominant hereditary transmission in about 50 per cent of the patients. Each congenital or chronic constipation should prompt an early radiological examination including x-ray films of the os sacrum and the anorectum to exclude or to find a Currarino triad. The finding of a "scimitar sacrum" makes it essential to perform a contrast enema of the anorectum and a CT of the pelvic structures in the patient and his family. The possibilities of management depending on the nature of the presacral masses and their communication to the rectum and/or to the spinal channel are described. It is emphasised that a subtitle division of the rectal and spinal tissues has to be the first aim of operation to prevent a dangerous and life-threatening infection of the meningeal sac.

Adolescent↗

PubMed1988

[Pelvic floor hernia caused by longitudinal rectum duplication in a female newborn infant].

Report on a pelvic hernia in a female neonate caused by longitudinal rectal duplication. Additional malformations were: Anal atresia with rectovaginal fistula, dysplastic kidney with partial doubling of the lower urinary tract and left foot. Pre-operative radiological examination should include: Opacification of the rectum--CT and excretory urography. The attachment of the totality of pathologic findings to partial caudal twinning syndrome is discussed.

Abnormalities, Multiple↗

PubMed1985

Reconstructive surgery for cloacal anomalies.

This paper describes a variety of surgical techniques which have been employed in three patients with cloacal anomalies, at the Kobe Children's Hospital during a period from 1977 to 1983. The patients presented with malformations in which the urethra, vagina and rectum converge at the high level of cloaca. Staged approach was mandatory in these patients. A loop colostomy with the distal loop of colon separated from the fecal stream and a decompressing vaginostomy are the initial procedures for this form of malformations. Vaginoplasty is required in some patients for pullthrough to the perineum. In those in whom the vagina and colon are separately pulled through, a posterior sagittal approach is convenient.

Anus, Imperforate↗

PubMed1985

Postoperative continence assessed by electromyography of the external sphincter in anorectal malformations.

Voluntary faecal continence after corrective surgery for anorectal malformations was assessed via electromyography (EMG) of the external sphincter muscle in 20 patients with anorectal malformations. Six normal children served as controls. Function of the external sphincter in patients with high type anomaly was disturbed from the points of tonic activity, inflation reflex, and activity during further rectal filling. Patients with a positive inflation reflex, regardless of the type of anorectal malformation, had good Kelly scores. Phasic activity was observed in patients with high-type anomaly, and in normal subjects and patients with other types of anomaly. Therefore, patients with high-type anomaly may acquire compensatory voluntary anal continence through training.

Adolescent↗

PubMed1985

Use of the recto-urethral fistula for reconstruction of the anal canal in high anal atresia.

A 6-month-old boy with high anal atresia was operated upon via a sacro-perineal approach. After division of the rectourethral fistula, pressure recordings from the rectal part of the fistula during electrical stimulation of the rectal mucosa showed a resting pressure and relaxations resembling internal anal sphincter activity. The fistula was used for the reconstruction of the anal canal and anastomosed to the skin in the anal incision. The postoperative course was uneventful. Six weeks after the operation ano-rectal manometry showed a high resting anal pressure and normal internal sphincter relaxations. It is concluded that the presented surgical technique may provide a functioning internal sphincter in at least some patients with high anal atresia with recto-urethral fistula.

Anus, Imperforate↗

PubMed1983

Heredity in anal atresia.

Although anal atresia is known to occur occasionally in families and as part of genetically determined syndromes, the role of genetics in its causation is highly disputable. In this paper evidence is presented for multifactorial genetic determination as the mode of inheritance in anal atresia. This conclusion is argued as based on evidence from the literature as well as findings in an additional series of 48 cases which were collected as a family study.

Anus, Imperforate↗

PubMed1983

A newborn with a covered anus complicated by two concomitant unique fistulas.

A newborn having a covered anus and two fistulas, one ano-urethral and one penile urethro-cutaneous, is presented. In spite of the resemblance of this ano-urethral fistula to an "H-type" ano-urethral fistula, which is thought to result from the failure of the division of the cloaca in the embryological period, three abnormalities seen in this case were thought to be the result of a serial event which occurred in the more distal part, the anal and the genital folds, during the embryological period.

Anus, Imperforate↗

PubMed1993

Familial congenital diaphragmatic hernia in the pig--studies on pathology and heredity.

Thirteen cases of congenital diaphragmatic hernia were encountered in one of the three pig families, established by us as a disease model of ano-rectal malformations. Five were males and 8 were females. The age at the onset of symptoms ranged between one and 4 months after birth. On the laterality, 7 had right side, 5 had left side and one had bilateral hernias. No hernial sac was observed. Herniated organs were intestine in the right and stomach in the left side. Thus congenital origin with late onset was suggested as a cause of the disease. In the studies of the heredity, there was no linkage between ano-rectal malformations and diaphragmatic hernia. Double recessive genes were supposed as a mode of inheritance, according to the statistical calculation. An effort is being made to produce a model of congenital diaphragmatic hernia from the pig family.

Animals↗