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PubMed2003

Pregnancy after lower urinary tract reconstruction for congenital abnormalities.

OBJECTIVE: To evaluate the effect of pregnancy on renal function, and the effect of congenital urinary tract abnormality and reconstruction on pregnancy and delivery. PATIENTS AND METHODS: The case notes were reviewed of 20 women (median age 32.5 years) who had had 29 live babies. Data collected included patient demographics, congenital urological abnormality, urological reconstructive procedure(s) and any subsequent urological complications. Pregnancy details, including urological and obstetric complications, presentation and mode of delivery, were obtained via a postal questionnaire from the relevant obstetrician. RESULTS: Seven patients had exstrophy-epispadias, seven spinal dysraphism, two sacral agenesis, and one each cerebral palsy, epispadias, imperforate anus and small bladder with vesico-ureteric reflux and congenital incontinence. They had had a mean (range) of 5.7 (1-12) urological reconstructive procedures each. Patients with exstrophy-epispadias had significantly more operations (mean 7.8) than those with spinal dysraphism (mean 4.14) or other diagnoses (mean 2.6) (P < 0.01). At the last follow-up 13 patients had an enterocystoplasty, six a neobladder and one an ileal conduit. Pregnancy-related urological complications were urinary tract infection in 15, upper tract obstruction requiring nephrostomy and stent in three, Mitrofanoff difficulties in two and pyelonephritis in one. There was no significant deterioration in glomerular filtration rate or serum creatinine after pregnancy. Only 10 of the births were normal or assisted vaginal deliveries. Seven patients had emergency and 12 had elective Caesarean sections for obstetric indications, including four breech births in the seven patients with vesical exstrophy. CONCLUSIONS: Pregnancy has no long-term effect on renal function and does not compromise reconstruction. Although there is a substantial complication rate and an increased need for Caesarean section, pregnancy in women with lower urinary tract reconstruction for congenital urological abnormalities is ultimately safe for both mother and baby. Interdisciplinary co-operation is desirable for a successful outcome.

Adult↗

PubMed1993

Single umbilical artery: a Doppler flow velocity study of four cases.

We measured the pulsatility index of the umbilical artery in four fetuses identified as having a single umbilical artery. A pulsed color Doppler ultrasound machine was used and measurements were performed at 4-week intervals following the first diagnosis of single umbilical artery (week 22-34). The pulsatility index was derived from the mean of five consecutive measurements at the umbilical insertion of the cord, taking care to obtain the Doppler signal with an incidence angle between +45 degrees and -15 degrees. All measurements were taken during periods of fetal inactivity. The pulsatility index at 22, 26, 30, 34 and 38 weeks in these pregnancies did not differ significantly from the mean values registered in normal pregnancies. The four women gave birth to babies of normal weight: two were healthy, one suffered from bladder extrophy and hemispondyly, the other had bilateral dilatation of the renal pelves, megalocystis, megalourethra and an imperforate anus.

Journal Article↗

PubMed2004

Epidemiology of fecal incontinence.

Nursing home residence is by far the most prominent association with fecal incontinence, with a prevalence approaching 50%. In one major survey, urinary incontinence was the greatest risk factor for developing fecal incontinence, and fecal incontinence was the greatest risk factor for developing urinary incontinence. Immobility, dementia, and the use of physical restraints were also important risk factors. Specific diseases associated with fecal incontinence include diabetes, multiple sclerosis, Parkinson's disease, stroke, and spinal cord injury. The surgical procedures lateral internal sphincterotomy for anal fissure, fistulotomy, and ileal pouch reconstruction can result in fecal incontinence. Children who are born with congenital abnormalities, such as imperforate anus, often experience soiling for many years. Future studies to determine the prevalence and etiology of fecal and urinary incontinence will need to first define these conditions and eliminate referral bias. Epidemiologic investigations of both disorders should be performed jointly because the conditions are so often comorbid.

Fecal Incontinence↗

PubMed2000

Posterior sagittal approach: megasigmoid resection and anal reconstruction for severe constipation and fecal incontinence after anoplasty.

PURPOSE: The aim of this study was to present the technique of megasigmoid resection and anal reconstruction by complete posterior sagittal approach for the children with severe constipation and fecal incontinence after anoplasty. METHODS: Six patients (age, 2 to 18 years) born with imperforate anus and originally treated with perineal anoplasty suffered from intractable constipation and fecal incontinence. Contrast enema showed massive dilated and aperistaltic rectosigmoid colon with fecal impaction. Resection of the dilated bowel and anal reconstruction were completely performed by posterior sagittal approach. RESULTS: The mean operating time was 205 minutes (range, 125 to 265 minutes) and the average length of resected colon was 23.3 cm (range, 10 to 40 cm). There were no intraoperative or postoperative complications. By 2 to 4 months after the operation, all patients obtained voluntary bowel movement. On follow-up at 6 to 24 months postoperative, no patient had constipation or required use of the laxatives again. Four of 6 patients suffered from grade 1 soiling, and the other 2 had grade greater than 1 soiling. None had urinary retention or incontinence after the procedure. CONCLUSION: Resection of dilated rectosigmoid colon and anal reconstruction for the patients with severe constipation and fecal incontinence after anoplasty can be performed successfully using a posterior sagittal approach.

Adolescent↗

PubMed2000

Choledochal cyst associated with duodenal obstruction.

The association between congenital duodenal obstruction and concomitant choledochal cyst has not been reported, although duodenal obstruction is known to be associated with many other anomalies. The authors describe 2 patients with choledochal cyst with duodenal obstruction. In 1 patient, a diverticulum type of choledochal cyst was found within an annular pancreas. Cyst excision, choledochojejunostomy, and side-to-side duodeno-duodenostomy were performed. The other patient showed separated duodenal atresia and other multiple anomalies including imperforate anus. A choledochal cyst was noted at the time of duodeno-duodenostomy and sigmoid colostomy. Cyst-enterostomy was performed at the age of 8 months, but the patient died of multiple anomalies. Intraoperative cholangiography indicated an anomalous pancreatobiliary ductal junction (APBDJ). In both patients the bile in the cyst contained high levels of amylase, suggesting the presence of an APBDJ. An APBDJ is considered to play an etiologic role in the development of the choledochal cysts associated with duodenal obstruction.

Choledochal Cyst↗

PubMed2002

The natural history of prenatally diagnosed conjoined twins.

BACKGROUND/PURPOSE: Accurate prenatal diagnosis of complex anatomic connections and associated anomalies has only been possible recently with the use of ultrasonography, echocardiography, and fetal magnetic resonance imaging (MRI). To assess the impact of improved antenatal diagnosis in the management and outcome of conjoined twins, the authors reviewed their experience with 14 cases. METHODS: A retrospective review of prenatally diagnosed conjoined twins referred to our institution from 1996 to present was conducted. RESULTS: In 14 sets of conjoined twins, there were 10 thoracoomphalopagus, 2 dicephalus tribrachius dipus, 1 ischiopagus, and 1 ischioomphalopagus. The earliest age at diagnosis was 9 weeks' gestation (range, 9 to 29; mean, 20). Prenatal imaging with ultrasonography, echocardiography, and ultrafast fetal MRI accurately defined the shared anatomy in all cases. Associated anomalies included cardiac malformations (11 of 14), congenital diaphragmatic hernia (4 of 14), abdominal wall defects (2 of 14), and imperforate anus (2 of 14). Three sets of twins underwent therapeutic abortion, 1 set of twins died in utero, and 10 were delivered via cesarean section at a mean gestational age of 34 weeks. There were 5 individual survivors in the series after separation (18%). In one case, in which a twin with a normal heart perfused the cotwin with a rudimentary heart, the ex utero intrapartum treatment procedure (EXIT) was utilized because of concern that the normal twin would suffer immediate cardiac decompensation at birth. This EXIT-to-separation strategy allowed prompt control of the airway and circulation before clamping the umbilical cord and optimized control over a potentially emergent situation, leading to survival of the normal cotwin. In 2 sets of twins in which each twin had a normal heart, tissue expanders were inserted before separation. CONCLUSIONS: Advances in prenatal diagnosis allow detailed, accurate evaluations of conjoined twins. Careful prenatal studies may uncover cases in which emergent separation at birth is lifesaving.

Female↗

PubMed2002

Avoidance of leakage and strictures when creating an invisible conduit for antegrade colonic enemas.

BACKGROUND: Antegrade enemas have been proven to minimize problems with stool control for many incontinent patients; however, foreign bodies are unsightly, and native tissues have been shown to leak or stricture. METHODS: Using a limited laparotomy incision, the appendix or a rolled cecal tube was sutured to the apex of the everted umbilical skin using a V-shaped incision. The skin then was inverted to hide the mucosa. The cecum was plicated around the base of the appendix or cecal tube and then tested by filling the cecum with saline to a pressure of 30 cm H2O. RESULTS: Twenty patients (aged 4.8 to 41 years) with fecal incontinence caused by imperforate anus (17 cases) and other causes underwent this procedure. Two patients had minor strictures that resolved with home dilatations, and one cecal tube necrosed, and the patient has refused reoperation. One patient had minor prolapse and underwent revision. None of the conduits leak. Two patients achieved continence and stopped cannulating their stomas. With adjustment and customization of each enema regimen, stool accidents are infrequent. Follow-up is 22 +/- 14 (mean +/- SD) months. CONCLUSION: A catheterizeable colocutaneous conduit has been developed that allows for an invisible, leak-proof, and relatively stricture-free means through which antegrade enemas can be given.

Adolescent↗

PubMed2003

Duplication of pouch colon associated with duplication of the lower genitourinary tract.

The authors report on a baby with imperforate anus associated with duplication of descending colon, double pouch colon type IV, duplication of the urinary bladder, and a bifid penis. The interesting presentation of this problem and its management is discussed with a brief review of the probable embryologic basis for such an anomaly. Such a duplication of pouch colon has not been described previously.

Colon↗

PubMed2002

Suitability of selected markers for identification of elements of the Intestinal Nervous System (INS).

The possibility of identifying and characterising elements of the enteric nervous system based on their contents of cathepsin D, chromogranin A, neuronal specific enolase and S-100 protein was studied in colorectal specimens (operative full-thickness, seromuscular and mucosomuscular biopsies) obtained from 15 children, aged 2 days to 10 years. Nine patients suffered from Hirschsprung's disease, and two from chronic constipation. Four neonates with imperforate anus or meconium ileus composed the control group. All markers were identified immunohistochemically by antibodies against human antigens with appropriate detection methods. Chromogranin A staining was not always adequate to identify all neuronal cell bodies and other nervous elements. However, it proved superior to the other methods in the depiction of neuroendocrine cells in the intestinal mucosa. Cathepsin D antibodies stained normal and abnormal neural cells with different intensity; nerve fibres were not stained. This marker did not allow an unequivocal differentiation of ganglion cells from macrophages within the submucosa; the latter exhibited exceptionally strong marking and in some cases represented the predominant elements in this area. Neuronal specific enolase was distinctly expressed in nerve cells and fibres of the intestinal wall. Atrophic and hypoplastic features could be identified, suggesting that this method may give some insight into functional aspects. Continuous connections between ganglions were also observed. S-100 protein antibodies resulted in a negative image of unstained ganglion cells surrounded by extensively marked Schwann cells and neural fibres. With respect to clinical application, all these markers may provide supplementary information for the differential diagnosis of intestinal motility disorders.

Biomarkers↗

PubMed1983

Segmental colonic duplication presenting as a sigmoid volvulus.

This is a case report of a four-year-old girl who presented with severe intermittent abdominal pain. She had an infra-levator imperforate anus repaired as a newborn. Operation demonstrated duplications of the right and left colons, separated by a normal transverse colon. The left colon duplication was closed at both ends, and it contained 500 cc of intestinal secretions. The sigmoid colon and its duplication volvulized. The terminal ileum was also duplicated; one ileum joining a normal ascending colon duplication, which was patent proximally, but closed distally.

Child, Preschool↗

PubMed1975

Electromagnetic bougienage to lengthen esophageal segments in congenital esophageal atresia.

Some cases of esophageal atresia, either with or without tracheoesophageal fistula, are not suited for primary anastomosis. To avert the need for colon interposition in two such infants, intermittent electromagnetic force was used to pull together "bullets" placed in the esophageal ends. This method elongated and enlarged the esophageal segments enough to accomplish their anastomosis later. This approach appears feasible to use for infants whose esophageal malformation does not permit primary repair. It may also be applicable to cases of imperforate anus with a hight pouch.

Dilatation↗

PubMed2002

Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: A case-based and case-control approach.

OBJECTIVES: To determine if infants of diabetic mothers (IDM) are at increased risk for dysplastic ears and the oculoauriculo-vertebral spectrum (OAVS). STUDY DESIGN: Cases of IDM with dysplastic external ears seen at Cedars-Sinai Medical Center were combined with case series in medical literature describing similar patients. Data from a large congenital birth defects registry in Spain were analyzed, and odds ratios (OR) for infants born to either a gestational or preconceptionally diabetic mother to have one of the studied malformations were calculated with 95% confidence intervals. RESULTS: Among the 30 patients in the case series, 50.0% (15) had hemifacial microsomia; 46.7% (14) had hearing loss; 33.3% (10) had facial nerve palsy; 33.3% (10) had vertebral anomalies; 36.7% (11) had cardiovascular defects, of which 45% (5) were conotruncal defects; 26.7% (8) had renal anomalies; 13.3% (4) had limb defects (all radial ray hypoplasia); 10% (3) had DiGeorge sequence; 6.7% (2) had laterality defects; and 6.7% (2) had imperforate anus. Within the cases from the birth defects registry, the odds ratio for OAVS in infants of mothers with gestational diabetes mellitus was 2.28 (95% CI, 1.03-4.82, P =.03), and the OR for ear anomalies in these infants was 1.21 (95% CI, 0.94-1.56, P =.13). When infants of mothers with preconceptionally diagnosed type 1 or 2 diabetes were considered, the OR for OAVS was 1.50 (95% CI, 0.08-9.99, P =.49), and the OR for dysplastic ears was 0.94 (95% CI, 0.48-1.81, P =.85). CONCLUSIONS: Our data indicate that OAVS occurs with a higher incidence in IDM than in the general population. Associated problems include hearing loss, athymia, and cardiac, renal, and limb malformations. Therefore, we recommend that an IDM with features consistent with OAVS undergo a workup including hearing evaluation, skeletal survey, echocardiogram, renal ultrasonogram, and immunodeficiency workup if clinically indicated. Furthermore, noting that most of these defects occur in structures of neural crest origin, we hypothesize that poorly controlled maternal diabetes interferes with cephalic neural crest cell migration.

Adult↗

PubMed1978

Urography in children: when should it be done? 2. Conditions other than infection.

Conditions that are often associated with an increased incidence of renal anomalies include imperforate anus, congenital vertebral abnormalities, and Fanconi anemia; excretory urography should be done if such a condition is present. Urography is also useful to provide baseline data in conditions associated with later development of urinary problems, such as myelodysplasia, prune-belly syndrome, and exstrophy of the bladder. In addition, urography serves as a periodic check for complications of treatment (hydronephrosis, obstruction) in patients with urinary diversion. Certain signs, eg, dribbling, hematuria after mild trauma, unexplained pneumothorax or pneumomediastinum in a neonate, and neonatal abdominal mass, call for immediate urography. In many conditions that were formerly thought to be associated with major urinary abnormalities, urography is not called for. Such is the case in hypospadias, deformities of the external ear alone, and undescended testes. Dehydration is the only absolute contraindication to urography.

Child↗

PubMedDate not supplied

Luteinized cystic ovarian hyperplasia associated with placentomegaly due to chorangiomatosis.

Luteinized cystic ovarian hyperplasia (LCOH) is a rare benign condition characterized by bilateral ovarian enlargement during pregnancy secondary to high maternal human chorionic gonadotropin serum levels referred to occur under several conditions. We report the case of a 29-year-old obese woman with LCOH incidentally discovered during cesarean section of a single pregnancy at 35 weeks of gestation for fetal intrauterine demise. The fetus showed external ambiguous genitalia, imperforate anus, bilateral dysplastic kidneys, and hydrometrocolpos secondary to atresia of the vagina. The placental weight was 1,450g (normal for gestational age: 415g). The placenta showed diffuse chorangiomatosis (CM) characterized by multifocal stem villi enlargement containing increased number of small vessels with alpha-smooth muscle actin positive cells in the walls in a dense reticulin fibers-rich stroma. The combination of LCOH and placentomegaly due to CM appears to be unique.

Adult↗

PubMed2001

SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin.

The Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome presenting as an association of imperforate anus, triphalangeal and supernumerary thumbs, malformed ears and sensorineural hearing loss. Mutations in SALL1, a gene mapping to 16q12.1, were identified as a cause for TBS. To elucidate how SALL1 mutations lead to TBS, we have performed a series of functional studies with the SALL1 protein. Using epifluorescence and confocal microscopy it could be shown that a GFP-SALL1 fusion protein localizes to chromocenters and smaller heterochromatin foci in transiently transfected NIH-3T3 cells. Chromocenters consist of clustered pericentromeric heterochromatin and contain telomere sequences. Indirect immunofluorescence revealed a partial colocalization of GFP-SALL1 with M31, the mouse homolog of the Drosophila heterochromatic protein HP1. It was further demonstrated that SALL1 acts as a strong transcriptional repressor in mammalian cells. Transcriptional repression could not be relieved by the addition of the histone deacetylase inhibitor Trichostatin-A. In a yeast two-hybrid screen we identified PIN2, an isoform of telomere-repeat-binding factor 1 (TRF1), as an interaction partner of SALL1, and showed that the N-terminus of SALL1 is not necessary for the interaction with PIN2/TRF1. The interaction was confirmed in vitro in a GST-pulldown assay. The association of the developmental regulator SALL1 with heterochromatin is striking and unexpected. Our results propose an involvement of SALL1 in the regulation of higher order chromatin structures and indicate that the protein might be a component of a distinct heterochromatin-dependent silencing process. We have also provided new evidence that there is a close functional link between the centromeric and telomeric heterochromatin domains not only in Drosophila and yeast, but also in mammalian cells.

3T3 Cells↗

PubMed2001

Disposition of sperm donors with resultant abnormal pregnancies.

We wished to determine how clinicians manage sperm donors whose offspring have chromosomal or structural abnormalities. A directed, multiple-choice survey was given to reproductive endocrinologists and obstetrical geneticists to assess management of sperm donors whose offspring have chromosomal or structural abnormalities. The questionnaire was completed by 66 reproductive endocrinologists and obstetrical geneticists. Abnormalities and the most common inheritance modes included: Trisomy 21 (aneuploidy, maternal origin), Turner syndrome (aneuploidy, paternal origin), cleft lip/palate (multifactorial), VATER sequence (vertebral defects, imperforate anus, tracheo-esophageal fistula, radial and renal dysplasia, sporadic inheritance), and Hurler syndrome (autosomal recessive). Response choices were: (i) remove donor from programme, (ii) inform potential recipients of prior pregnancy outcomes and continue to use donor, or (iii) further study donor to assess karyotype/mutations. Inheritance mode appeared to influence decisions to remove donors from sperm banks; however, no clear consensus was noted. Guidelines exist for screening potential gamete donors, but not for managing donors whose offspring has a chromosomal or structural abnormality. Guidelines must be developed to manage sperm donors with untoward pregnancy outcomes.

Chromosome Aberrations↗

PubMed1986

Down's syndrome and the gastrointestinal tract.

Gastrointestinal (GI) abnormalities are frequent in patients with Down's syndrome. In a 12-year retrospective review, we identified 187 patients with Down's syndrome admitted to the Columbia-Presbyterian Medical Center. Twenty-seven had major GI disorders, the most common being duodenal stenosis (DS, nine), gastroesophageal reflux (GER, five), imperforate anus (five), and Hirschsprung's disease (four). The mortality for the whole group was 11% (20 patients). The mortality in the small group of patients with duodenal stenosis was particularly high (five out of nine, or 56%). Associated congenital heart disease, especially endocardial cushion defects, and the frequent occurrence of pneumonia contributed to this high mortality rate.

Adolescent↗

PubMed1996

Expanded followup of intravesical oxybutynin chloride use in children with neurogenic bladder.

PURPOSE: We evaluated the long-term results of intravesical oxybutynin chloride use in children with neurogenic bladders who could not tolerate or whose conditions were refractory to oral therapy. MATERIALS AND METHODS: We reviewed our experience with 28 children (myelomeningocele in 27 and imperforate anus in 1) who presented with urinary incontinence and/or elevated bladder pressures refractory to intermittent catheterization and oral anticholinergic medication. Intravesical oxybutynin was administered to each child by instillation of 5 mg. crushed oxybutynin chloride in 10 cc sterile saline 2 times daily during catheterization. RESULTS: Seven patients (25%) could not tolerate intravesical oxybutynin secondary to anticholinergic side effects. The remaining 21 children have been followed on intravesical oxybutynin for a mean of 35 months (range 3 to 67). Of these 21 children 12 (57%) became completely dry day and night, 5 (24%) achieved daytime continence between catheterizations and 4 (19%) remained clinically unchanged with 2 in diapers. On urodynamics these 21 patients had increased bladder capacity of up to 1,150% (mean 237%, p < 0.0001) and decreased mean maximum filling pressures of -31% (p = 0.002). CONCLUSIONS: Although a number of patients continued to have anticholinergic side effects, a majority had significant improvement in urodynamic parameters and continence. The response appears to be durable, and it spares many of these children from undergoing bladder augmentation.

Administration, Intravesical↗