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At least 469 records · Page 26Linked to original sources
PubMed2003

[Quantitative analysis of motoneurons innervating the muscle levator ani in rats with anorectal malformation].

OBJECTIVE: To quantify the motorneurons innervating the muscle levator ani (rat equivalent of puborectalis in human) by retrograde tract-tracing in a rat model of anorectal malformation. METHODS: Anorectal malformation is induced in fetuses by gavage feeding of ethylenethiourea (ETU; 125 mg/kg body weigh) to pregnant outbreed Wistar rats at day 11 of gestation. At E20, fetal surgery was performed to expose the muscle levator ani and fluorogold (FG) was injected. Fetuses were collected 24 hours later, fixed by paraformaldehyde infusion cardially. The lumbosacral spinal cord was removed for cryosection. Serial longitudinal sections (60 micro m) encompassing the whole width of lumbosacral spinal cord were studied with fluorescent microscopy. The number of FG-labelled motoneurons were scored and compared between fetuses with or without malformation in the ETU-injection group, and normal controls. RESULTS: In the ETU-injection group, 55.6% (95/171) of fetuses displayed anorectal malformation, 56.7% of fetuses displayed anomalies of neural tube. FG was injected to the muscle levator ani of 8 fetuses without defects of anorectum or neural tube, 5 fetuses with imperforate anus only, 10 fetuses with anomalies of neural tube, and 15 fetuses with combined imperforate anus and anomalies of neural tube. Fetuses (n = 9) from non-injected with ETU group were injected with FG as normal controls. The total number of FG-labelled motoneurons in the fetuses without defects of anorectum and neural tube, with imperforate anus, with anomalies of neural tube, with combined imperforate anus and anomalies of neural tube, and normal controls were 109 +/- 38, 55 +/- 26, 48 +/- 30, 54 +/- 29 and 135 +/- 29 respectively. FG-labelled motoneurons in the fetuses with imperforate anus, anomalies of neural tube, and combined imperforate anus and anomalies of neural tube are significantly fewer than that in fetuses without defects of anorectum or neural tube (P < 0.05), and in normal controls (P < 0.005). The number of FG-labelled motoneurons did not differ between the fetuses without defects of anorectum or neural tube and normal controls (P > 0.05). CONCLUSION: Fewer motoneurons that innervates the puborectalis may contribute to the poor postoperative anorectal function in patients with anorectal malformation.

Abnormalities, Multiple↗
PubMed2004

Using color Doppler sonography to identify the perivesical umbilical arteries: a useful method in the prenatal diagnosis of omphalocele-exstrophy-imperforate anus-spinal defects complex.

OBJECTIVE: To describe the different prenatal sonographic findings in 3 cases of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex, or cloacal exstrophy. METHODS: Three patients with OEIS complex were examined by sonography. In 2 (cases 2 and 3) of the 3 cases, color Doppler sonography was applied to the area of cord insertion and the abdominal mass to determine the origin of the abdominal mass. RESULTS: Three cases of OEIS complex with different sonographic appearances are included in this series. An absent bladder without an abdominal mass but with bowel floating in the amniotic cavity was revealed in case 1; an absent bladder with a lower anterior abdominal mass was found in the second trimester in case 2; and a large cystlike mass located in the anterior abdominal wall was found in case 3. Color Doppler imaging showed that the abdominal mass originated from the urinary bladder in cases 2 and 3; therefore, OEIS complex was presumptively diagnosed antenatally in these cases. In all cases, OEIS complex was confirmed postnatally. CONCLUSIONS: Omphalocele-exstrophy-imperforate anus-spinal defects complex should be considered in patients with an absent bladder combined with either an anterior abdominal wall mass or defects. Special attention should be given to search for other combined anomalies. We suggest that color Doppler sonography for identifying the perivesical umbilical arteries is a very useful method in establishing of the diagnosis of OEIS complex.

Adult↗
PubMedDate not supplied

Anorectal disorders requiring surgical treatment in the University of Port Harcourt Teaching Hospital, Port Harcourt.

BACKGROUND: The prevalence of anorectal disorders requiring surgical treatment has not been previously documented in the University of Port Harcourt Teaching Hospital (UPTH). AIM: To find out which of the anorectal disorders were most commonly managed surgically in the UPTH from January 1 1998 to December 31 2002. METHODS: The case notes and theatre records of all anorectal conditions treated surgically were studied retrospectively. They were analysed with respect to age, sex, type of lesion, duration of pathology before surgery, surgical treatment performed, hospital stay, complications and outcome. RESULTS: Seventy patients were so treated. Males outnumbered females in a ratio of 1.2:1. The commonest age groups treated were in the first, third and fourth decades of life. The commonest conditions treated were haemorrhoid, fissure-in-ano, imperforate anus and fistula-in-ano. Apart from imperforate anus cases, the mean duration of symptoms before surgery was 18 1/2 months. Open haemorrhoidectomy, lateral internal sphincterotomy and fistulotomy/fistulectomy were themain procedures performed. The procedures for imperforate anus varied from simple serial anal dilatation to perineal pull through operations. Main complication encountered was post hemorrhoidectomy anal stenosis. The mean hospital stay was 16.9 days. Mortality rate was 1.4%. CONCLUSION: Haemorrhoid, fissure-in-ano, imperforate anus and fistula-in-ano were the commonest conditions treated surgically in UPTH over the 5 year period.

Adolescent↗
PubMed2006

Cecostomy in children with defecation disorders.

Administration of antegrade enemas through a cecostomy is a therapeutic option for children with severe defecation disorders. The purpose of this study is to report our 4-year experience with the cecostomy procedure in 31 children with functional constipation (n = 9), Hirschsprung's disease (n = 2), imperforate anus (n = 5), spinal abnormalities (n = 8), and imperforate anus in combination with tethered spinal cord (n = 7). Data regarding complications, antegrade enemas used, symptoms, and quality of life were retrospectively obtained. Placement of cecostomy tubes was successful in 30 of 31 patients. Soiling episodes decreased significantly in children with functional constipation (P = 0.01), imperforate anus (P < 0.01), and spinal abnormalities (P = 0.04). Quality of life improved in patients with functional constipation and imperforate anus. No difference in complications was found between percutaneous and surgical placement. Use of antegrade enemas via cecostomy improved symptoms and quality of life in children with a variety of defecation disorders.

Adolescent↗
PubMed1994

Dysraphic myelodysplasias associated with urogenital and anorectal anomalies: prevalence and types seen with MR imaging.

OBJECTIVE: The purpose of this study was to determine by MR imaging the prevalence and types of dysraphic abnormalities of the spinal cord (i.e., myelodysplasias) associated with urogenital and anorectal malformations of childhood. MATERIALS AND METHODS: Since 1987, 92 patients with imperforate anus complex, cloacal malformation, and cloacal exstrophy have had MR imaging as a screening examination for occult dysraphic myelodysplasia. The prevalence and types of myelodysplasia were determined for each group. RESULTS: The prevalence of dysraphic myelodysplasia in each group of children was 17% (1/6) for low imperforate anus (ectopic anus), 34% (11/32) for high imperforate anus (with fistulization), 46% (19/41) for cloacal malformation, and 100% (13/13) for cloacal exstrophy. The most common abnormalities in each group were tethered cord with intradural or filar lipoma in imperforate anus; low-placed or dysplastic conus medullaris and tethered cord with lipoma or myelolipoma in cloacal malformation; and lipomyelocele, lipomyelomeningocele, or lipomyelocystocele in cloacal exstrophy. CONCLUSION: Our results show that the prevalence of myelodysplasia as seen on MR imaging is high in patients with urogenital and anorectal anomalies.

Anus, Imperforate↗
PubMed1980

Vasa deferentia inserting into retroiliac ureters.

A communication between the vas deferens and ureter is one of the many genitourinary anomalies associated with an imperforate anus. We describe a case of an imperforate anus with multiple urinary tract abnormalities, which included ectopic insertion of the vasa deferentia into the ureters.

Anus, Imperforate↗
PubMedDate not supplied

Fetal obstructive uropathy: patterns of renal pathology.

Fetal obstructive uropathy (FOU) is characterized by obstruction of the urethra, renal anomalies, ureterovesical dilatation, oligohydramnios, cryptorchidism, and abdominal muscle wall changes. The main objective of the present study was to better understand the relationship between FOU and renal pathology using a series of 15 male autopsy cases. A total of 11 cases with patent anus and 4 with imperforate anus were analyzed. Of the first group, most cases showed obstruction at the level of prostatic urethra. Seven cases showed obstruction at the level of the prostatic urethra and histologic study revealed scarring and partial or complete absence of the prostate, while in the remaining four cases the prostate was present. Of the cases with imperforate anus, two showed obstruction at the level of prostatic urethra, one showed posterior urethral valves, and one was obstructed at the proximal urethra. In all cases the kidneys showed mixed (dysplastic and cystic) changes with no significant differences between the two groups. An inverse correlation was observed between degree of renal dysplasia and gestational age, whereas the opposite was true for cystic changes. Distal and collecting tubules were more intensely immunoreactive to the anti-cytokeratin antibody when compared to proximal tubules. Moreover, anti-cytokeratin immunoreactivity was more prominent in tubules displaying cystic dilatation. DNA fragmentation analysis of renal tissue revealed a higher apoptosis of mesenchymal and tubular cells in the FOU cases, compared to gestational aged-matched controls. These results suggest that renal anomalies in FOU might be related to the gestational age at which the injury occurred and to the duration of the obstruction.

Apoptosis↗
PubMed1986

Temporal bone findings in VATER syndrome.

The temporal bone findings of a patient with VATER syndrome are reported. The VATER syndrome is a nonrandom association of anomalies including vertebral, anal, tracheoesophageal, radial, and renal defects. This patient had multiple congenital anomalies: tracheal agenesis with associated laryngoesophageal cleft and tracheoesophageal fistula, tetralogy of Fallot, single umbilical artery, and imperforate anus with cloaca. To our knowledge, there have been no reports of the temporal bone findings in the VATER syndrome. Our patient had anomalous configuration of lateral semicircular canal and an abnormally high location of the utricle and saccule. The VATER syndrome seems to be due to faulty mesodermal development during the first five weeks of gestation, which, according to the findings reported here, can also involve the temporal bones as well.

Abnormalities, Multiple↗
PubMed1987

Urorectal septum malformation sequence. Report of six cases and embryological analysis.

We encountered six female infants with a specific pattern of developmental abnormalities of the urogenital and lower intestinal tracts. The anomalies included ambiguous genitalia, lack of perineal openings, and müllerian and urinary tract anomalies. Each patient had normal female chromosomes and normal adrenal gland function. We believe that this combination of anomalies represents a recognizable and specific sequence that is due to a failure of migration to and/or fusion of the urorectal septum with the cloacal membrane. This, in turn, we postulate, leads to persistence of the cloaca and cloacal membrane and failure of normal differentiation of the external genitalia. Persistence of the cloacal membrane results in absence of the urethral and vaginal openings and an imperforate anus. We propose calling this entity the urorectal septum malformation sequence.

Anus, Imperforate↗
PubMed1980

Colostomy complications in children. An analysis of 146 cases.

This report analyzes the course of 146 pediatric patients with colostomies in reference to problems with colostomy formation, management, and subsequent closure. Colostomy was performed predominantly for Hirschsprung's disease (70 cases) and imperforate anus (46 cases). A transverse colostomy was done in 120 patients (82%), and a sigmoid colostomy in the remaining patients. Loop colostomies were five times more frequent than divided colostomies. Early major complications occurred in 24 patients (16%). Stomal complications occurred in 69 patients and were more frequent after loop colostomies. Colostomy revision was required in 24 cases. Sigmoid colostomy had a significantly lower complication rate (P less than .01). One hundred nine patients underwent colostomy closure. Major complications occurred in 16 cases (15%). There were no deaths related to colostomy closure. The use of a sigmoid colostomy when possible and close attention to technical details, principles of stomal care, and proper parental instruction should minimize morbidity.

Adolescent↗
PubMed1998

Fetus with Casamassima-Morton-Nance syndrome and an inherited (6;9) balanced translocation.

We report on a fetus with cranio-facial anomalies, a narrow thorax, imperforate anus with cloacal cyst, and a genitourinary malformation with absent uterus, vagina, and external genitalia. Major thoracic defects were seen on roentgenographic examination, including absent vertebrae and ribs, a supernumerary vertebra, a hemivertebra, and rib fusion. These findings are compatible with Casamassima-Morton-Nance syndrome. The patient was the carrier of a translocation t(6;9)(p12;q12), inherited from the mother. Although the occurrence of this rearrangement may be coincidental, it may also indicate a possible locus for this autosomal recessive thoracic dysplasia.

Abnormalities, Multiple↗
PubMed1996

Ultrasound-guided fluid aspiration and prenatal diagnosis of duplicated hydrometrocolpos with uterus didelphys and septate vagina.

We report on a case of duplicated hydrometrocolpos with uterus didelphys, a septate vagina, lower vaginal atresia, a persistent urogenital sinus, left ear agenesis, a single umbilical artery, and an imperforate anus, but without the associated features of McKusick-Kaufman syndrome such as polydactyly and congenital heart defects. Ultrasound-guided fluid aspiration of the fetal intrapelvic cystic mass helped to decompress the distended genital organs, decrease the severity of the urinary tract obstruction, delineate the ultrasonographic image of duplicated hydrometrocolpos to differentiate it from other intrapelvic cystic masses, and obtain fluid for cytological analysis.

Abnormalities, Multiple↗
PubMed2000

Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome.

Pallister-Hall syndrome (PHS) comprises hypothalamic hamartoma, polydactyly, pituitary dysfunction, laryngotracheal cleft, imperforate anus, and other anomalies. Some patients with PHS have a bifid epiglottis, a rare malformation. Greig cephalopolysyndactyly syndrome (GCPS) comprises polydactyly with craniofacial malformations without the PHS malformations. Both disorders are caused by mutations in the GLI3 gene. Laryngoscopy on 26 subjects with PHS showed that 15 had a bifid or cleft epiglottis (58%) and none of 14 subjects with GCPS had a cleft epiglottis. The malformed epiglottis was asymptomatic in all of the prospectively evaluated subjects. One additional PHS subject was found to have bifid epiglottis and a posterior laryngeal cleft on autopsy. We conclude that bifid epiglottis is common in PHS but not GCPS. Posterior laryngeal clefts are an uncommon manifestation of PHS and are identified only in severely affected patients. The diagnosis of a bifid epiglottis should prompt a thorough search for other sometimes asymptomatic anomalies of PHS to provide better medical care and recurrence risk assessment for affected individuals and families.

Adolescent↗
PubMed2001

Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.

Townes-Brocks syndrome (TBS) is a condition with imperforate anus, hand anomalies, and ear malformations with sensorineural hearing loss. Many cases are sporadic. Within and between families, the phenotype displays striking variability. Recently, the disease-causing gene for TBS was identified as SALL1, a zinc finger transcription factor. Here, we report a three-generation family with seven affected individuals who have a novel SALL1 mutation. Unique cardiac anomalies seen in this family include lethal truncus arteriosus in one patient and a lethal complicated defect, including pulmonary valve atresia, in a second patient. These severe cardiac anomalies have not previously been reported in a familial case of TBS. This family and a review of the literature indicate that cardiac evaluation is warranted in all individuals with this disorder. In addition, hypoplastic thumbs were seen in two individuals in this family and should, therefore, be considered a true feature of TBS.

Abnormalities, Multiple↗
PubMed2002

Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry.

Many types of chromosome mosaicism have been identified in cases of hypomelanosis of Ito, often in association with chromosome instability; however, there have been very few cases with diploid-tetraploid mosaicism described in the literature. We present a patient with a tetraploid mosaicism: a 17-year-old girl who has hypomelanosis of Ito in association with diploid/tetraploid/t(1;6) mosaicism. She had multiple congenital anomalies of omphalocele, exstrophy of bladder, duodenal web, and imperforate anus. These features have not been described previously in diploid-tetraploid mosaicism.

Abnormalities, Multiple↗
PubMed1977

The FG syndrome: further characterization, report of a third family, and of a sporadic case.

We report 5 new cases of the FG syndrome, 1 sporadic, 3 brothers from a European family, and another affected male born in the first FG syndrome family reported by Opitz and Kaveggia in 1974. The pedigree data confirm the hypothesis of X-linked inheritance of this multiple congenital anomaly/mental retardation (MCA/MR) syndrome. Its manifestations include shortness of stature with a disproportionately large head, mental retardation, hypotonia with or without congenital joint contractures, seizures and a strikingly characteristic personality of facial appearance, imperforate anus and/or orthe gastrointestinal defects, congenital heart defects, and many minor manifestations. Chronic pulmonary disease in some affected males may be a complication of hypotonia.

Abnormalities, Multiple↗
PubMed1980

Malformation syndrome associated with small extra chromosome.

We report an infant with a previously apparently unreported lethal malformation syndrome concentrated primarily on the left half of the body, but including midline defects such as meningomyelocele, cleft lip and cleft palate, and imperforate anus. The infant also had a small extra metacentric chromosome in 60% of lymphocytes. It is postulated that the small extra chromosome (whose origin remains unknown) caused the infant's condition, and that its asymmetry is compatible with an uneven distribution of the normal and aneuploid cell lines in the two halves of the body during critical phases of prenatal development.

Abnormalities, Multiple↗