Orthodontic premaxillary setback versus premaxillary osteotomy with gingivoperiosteoplasty for Bilateral cleft lip and palate patients: 4-year observation outcomes.

Patients with bilateral cleft lip and palate (BCLP) generally require several stages of treatment, and adequate maxillary development without orthognathic surgery is not easy to achieve. The purpose of this study was to determine short-term outcomes of orthodontic premaxillary setback (OPS) and premaxillary osteotomy (PO) for complete BCLP treatment. PATIENTS AND METHODS: Twenty-six patients with BCLP were consecutively treated for 4 years by a single surgeon. All patients were categorized by three indications for the first operation: OPS1, cheiloplasty + gingivoperiosteoplasty (GPP) + palatoplasty; OPS2, cheiloplasty + GPP; and PO, cheiloplasty + GPP + PO. Cephalograms for maxillary growth and velopharyngeal function (VPF) were judged at 4 years old, before orthodontic treatment. RESULTS: OPS1 was performed in 14 cases, OPS2 in 8 cases, and PO in 4 cases. As for cephalometric analysis at 4 years old, no significant differences between groups were seen in any cephalometric measurements. As for speech outcomes, assessment of VPF at 80.8±14.8 months was good in 17 cases, slightly impaired in 8 cases, and marginally impaired in 1 case, with no severely impaired cases. DISCUSSION: No significant differences in maxillary growth or speech outcomes were seen between OPS1, OPS2, and PO groups at 4 years old, possibly because all groups showed the same position of the premaxilla after the first operation. CONCLUSIONS: No significant differences in maxillary growth or speech outcomes were seen for 26 patients with BCLP between OPS1, OPS2, and PO groups at 4 years old. However, the long-term growth characteristics remain unclear.

Establishment of a rescue program for anorectal malformations induced by retinoic acid in mice.

AIMS OF STUDY: Retinoid-mediated signal transduction plays a crucial role in the embryogenesis of various organs. We previously reported the successful induction of anorectal malformations in mice using retinoic acid (RA). Retinoic acid controls the expression of essential target genes for cell differentiation, morphogenesis, and apoptosis through a complicated interaction in which RA receptors form heterodimers with retinoid X receptors. In the present study, we investigated whether the retinoid antagonist, LE135, could prevent the induction of anorectal malformations (ARMs) in mice. METHODS: Retinoic acid was intraperitoneally administered as 100 mg/kg of all-trans RA on E9; and then the retinoid antagonist, LE135, was intraperitoneally administered to pregnant ICR strain mice on the eighth gestational day (E8), 1 day before administration of RA (group B) or on E9, simultaneously (group C) with RA administration. All of the embryos were obtained from the uteri on E18. Frozen sections were evaluated for concentric layers around the endodermal epithelium by hematoxylin and eosin staining. RESULTS: In group A, all of the embryos demonstrated ARM with rectoprostatic urethral fistula, or rectocloacal fistula, and all of the embryos showed the absence of a tail. In group B, 36% of the embryos could be rescued from ARM. However, all of the rescued embryos had a short tail that was shorter than their hind limb. The ARM rescue rates in group B were significantly improved compared to those in group A (P < .01). In group C, 45% of the embryos were rescued from ARM, but all of the rescued embryos had short tail. The ARM rescue rate in group C was significantly improved compared to that in group A (P < .01). However, there was no significant difference in the ARM rescue rate between group B and Group C. CONCLUSION: The present study provides evidence that in the hindgut region, RAR selective retinoid antagonist, LE135, could rescue embryos from ARM. However, the disturbance of all-trans RA acid was limited to the caudal region. Further study to establish an appropriate rescue program for ARM in a mouse model might suggest a step toward protection against human ARM in the future.

Laparoscopic versus open abdominoperineal rectoplasty for infants with high-type anorectal malformation.

BACKGROUND/PURPOSE: There has not been any study comparing laparoscopic abdominoperineal rectoplasty (ARP) with open ARP. This study investigated the true benefits of the laparoscopic approach in infants with high anorectal malformation. PATIENTS AND METHODS: A retrospective analysis was performed in 28 infants with high anorectal malformation treated between 1990 and 2007. Fifteen were treated by open ARP, and 13 were treated by laparoscopic ARP. Surgical durations, amount of bleeding, complications, anorectal pressure measurements, barium enema study, and clinical assessment were compared between the 2 groups. RESULTS: The amount of intraoperative bleeding was significantly less in laparoscopic ARP (12 ± 11 g) than in open ARP (65 ± 44 g) (P = .003). Anal resting pressure was 34 ± 9 cm H(2)O after laparoscopic ARP and 31 ± 14 cm H(2)O after open ARP. Anorectal reflex was positive in 1 (7%) of 15 after open ARP and 3 (23%) of 13 after laparoscopic ARP. There was no significant difference in barium enema study and clinical assessment between the 2 groups. With regard to postoperative complications, mucosal prolapse occurred in 10 (67%) of 15 after open ARP and in none of 13 after laparoscopic ARP (P = .003). CONCLUSION: Benefits of the laparoscopic approach were reduced intraoperative bleeding and a lower incidence of postoperative anal mucosal prolapse. These results indicate that minimal dissection of the mesorectum in laparoscopic ARP may provide those better outcomes.

Usefulness of magnetic resonance imaging for congenital prepubic fistula.

Congenital prepubic fistula is a rare congenital anomaly. Complete removal of the fistular tract remains challenging because of the complicated course. Although conventional fistulography has been used widely as a diagnostic tool for congenital prepubic fistula, more detailed information such as accurate localization of the fistular end or relative position to the urinary tract cannot be preoperatively obtained because the conventional contrast studies have insufficient capability. In this article, we reported the complete removal of congenital prepubic fistula based on preoperative magnetic resonance imaging findings, especially T2-weighted imaging. Magnetic resonance imaging clearly displayed not only the tract of the prepubic fistula originating from a subcutaneous cyst but also the tract extending and ending near the top of the urinary bladder.

Bowel function after surgery for anorectal malformations in patients with tethered spinal cord.

Tethered spinal cord (TC) is an anomaly frequently recognized in association with anorectal malformations (ARM). However, the influence of TC on bowel function in children with ARM remains unknown. Furthermore, there are few studies that have assessed anorectal function in children with ARM and TC. The aim of this study was to evaluate anorectal function in ARM patients with TC using clinical assessment and anorectal manometry. Among 258 patients with ARM, this retrospective investigation included 35 patients who underwent spinal magnetic resonance imaging (MRI) after surgery for ARM. The patients were divided into two groups based on the presence or absence of TC, and bowel function was assessed by Kelly's clinical score and anorectal manometry. Tethered cord was found in nine of the 35 patients (26%) with ARM. Of the ARM patients, TC was noted in four of 11 (36%) with high type anomalies, one of 8 (13%) with intermediate type anomalies, two of 14 (14%) with low type anomalies, and two of two patients (100%) with cloacal anomalies. Kelly's clinical score did not significantly differ between the two groups. However, two of the nine patients with TC had poor bowel function (Kelly's score; 2-0 points). On the contrary, patients without TC did not have poor bowel function. Anorectal manometry did not show a significant difference between patients with and without TC. However, the two patients with TC who had poor bowel function by Kelly's score had low anal resting pressure, which was essential for achieving fecal continence. In conclusion, the present study showed that tethered cord was more frequently found in patients with more severe anorectal anomalies. Patients with TC were more likely to have poor bowel function, but this did not reach statistical significance.

The role of sympathetic innervation in the developing rat gubernaculum.

BACKGROUND: Testicular descent occurs in several steps, but the mechanism remains unknown. Recently, sympathetic nerves have been proposed to have a role. This study aimed to see if adrenergic agonists and antagonists affected the neonatal rat gubernacular cremaster sac in organ culture. METHODS: Cremaster sacs were collected from 2-day-old Sprague-Dawley male rats (n = 90) and placed in organ culture with/without (1) calcium chloride (0.45-1.8 mmol/L), (2) rat calcitonin gene-related peptide (CGRP) (714 nmol/L), (3) nifedipine (0.1-100 nmol/L), (4) isopreneline (10 micromol/L), and (5) guanethidine (10 micromol/L). Gubernacula were observed over 2 days for rhythmic peristalsis (>120 beats per minute for >1 minute). RESULTS: Addition of CGRP stimulated rhythmic contractility but only in the presence of calcium, with a dose-response to the level of calcium ions. Contractions induced by CGRP with calcium could be obliterated in a dose-response by nifedipine. Isoprenaline caused some increase in contractions with calcium but less than that seen with CGRP. No augmentation of effect was seen with CGRP and isopreneline together, and the level of contractility was the same with guanethidine. CONCLUSIONS: Calcitonin gene-related peptide is the main effector for contractility of the rat cremaster sac, as long as calcium ions are present. Adrenergic agonists and antagonists had limited effects. Contractility could be inhibited with nifedipine, consistent with CGRP acting via a calcium-dependent pathway.

Testicular descent, cryptorchidism and inguinal hernia: the Melbourne perspective.

Cryptorchidism is the commonest congenital genitourinary anomaly in males and results when the testis does not descend into its normal intrascrotal position during development. In full-term infants, the incidence is approximately 3% at birth. Cryptorchidism results in several abnormalities, including attenuated spermatogenesis, infertility and a greater risk of malignancy. The normal mechanism of testicular descent appears to be multi-staged, with various anatomical factors and hormonal influences, but the exact process is still unclear. In this article we review the current theories of normal testicular descent, with a focus on the hormones and anatomical factors, and current treatments for undescended testis.

The gubernaculum in testicular descent and cryptorchidism.

The gubernaculum plays an essential role in the complex mechanism of testicular descent and inguinal hernia closure. Understanding this complex developmental process is gradually allowing us insight into how to regulate normal descent and also treat maldescended testes.

Sonic hedgehog and bone morphogenetic protein 4 expressions in the hindgut region of murine embryos with anorectal malformations.

PURPOSE: The aim of this study was to determine the possible role of the retinoid-mediated signaling pathway in the pathogenesis of anorectal malformations (ARM). The authors investigated whether all-trans retinoic acid (ATRA) affects the expression pattern of Sonic hedgehog (Shh) and Bone morphogenetic protein 4 (BMP4), which play important roles in anorectal morphogenesis in vertebrates. METHODS: Pregnant ICR strain mice were fed 100 mg/kg of ATRA on the ninth gestational day (E9). Embryos with or without administration of ATRA were obtained from the uteri between E12 and E16 and were fixed immediately in a 4% paraformaldehyde solution. Frozen sections were evaluated for concentric layers around the endodermal epithelium by H&E and immunohistochemistry using antibodies created specifically to act against Shh and BMP4. RESULTS: More than 95% of the embryos administered ATRA had ARM; rectoprostatic urethral fistula, rectocloacal fistula, and short tail were the most frequent anomalies in the mouse embryos. On E14, normal mouse embryos had normal rectum and anus in which the epithelium of the anorectum was positive for Shh, and the mesenchyme was positive for BMP4. In the ARM embryos, however, the epithelium of the anorectum was negative for Shh, and the mesenchyme was also negative for BMP4. CONCLUSIONS: In normal hindgut development, Shh from the epithelium induces BMP4 expression in the mesenchyme, which differentiates into the lamina propria and the submucosa. In ARM embryos, expressions of Shh and BMP4 could not be found in those regions of the hindgut. Therefore, these findings indicate that Shh and BMP4, which appear to play a crucial role in organogenesis of the hindgut, were disturbed in the cell signaling pathway between the epithelium and the mesenchyme layers.

Results of biofeedback therapy for fecal incontinence in children with encopresis and following surgery for anorectal malformations.

INTRODUCTION: Some children with fecal incontinence respond to biofeedback therapy. However, whether they can achieve fecal continence posttherapeutically has not been clarified. We studied the serial results of biofeedback therapy and discuss the necessity of providing repeated biofeedback therapy at home. METHODS: Nineteen children with encopresis underwent one session of biofeedback therapy. Seven of 15 children with fecal incontinence that developed after surgery for anorectal malformations underwent three to eight sessions of biofeedback therapy; the remaining 8 underwent one (mean, 2.9) session only. The patients were hospitalized for one session of biofeedback therapy. To monitor the clinical outcome of intervention, we used serial score assessments from three months to two years posttherapeutically. RESULTS: Seventeen of 19 (90 percent) patients with encopresis showed clinical improvement after one session of therapy (P < 0.0001). Six months after treatment, however, six of ten (60 percent) patients with encopresis reported recurrent fecal incontinence after one therapeutic session. Clinical improvement was noted in 5 of 15 (33 percent) patients who had fecal incontinence after surgery for anorectal malformations. All five patients showed clinical improvement from six months to two years after several sessions of biofeedback therapy (P < 0.05). CONCLUSIONS: Biofeedback therapy is effective in most children with encopresis and in some children with anorectal malformations. However, some patients need repeated sessions of biofeedback therapy to achieve fecal continence. Therefore, a new portable biofeedback apparatus for the treatment of fecal incontinence at home may be helpful.

Development of the pelvic floor muscles of murine embryos with anorectal malformations.

BACKGROUND/PURPOSE: Recent biological studies have elucidated the molecular mechanism of muscle development, in which various regulatory molecules play key roles during embryogenesis. To determine possible myogenic abnormalities in anorectal malformations (ARM), the authors investigated the pelvic muscle development in murine embryos affected with ARM. METHODS: ARM embryos were induced by all-trans retinoic acid (ATRA) on the ninth gestational day (E9.0). Embryonal specimens were obtained from the uteri between E10.5 and E16.0, and the frozen sections were prepared for immunohistochemistry using antibodies specific for MyoD, myogenin, and PGP9.5 molecules. RESULTS: In ARM embryos, the neural tube was irregularly branched and formed an anomalous mass in the sacral region. Embryonal caudal somites differentiated into myogenic cells to form proper myotubes in the pelvis corresponding to the developmental stages between E12.5 and E15.0 both in affected embryos and the controls. CONCLUSIONS: In ARM embryos, an impaired anatomic framework of the pelvis was caused by neural maldevelopment, whereas muscle development proceeded physiologically. These results support the hypothesis that pelvic floor muscles may function in ARM children, in whom neural abnormalities such as meningomyelocele or tethered spinal cord have been ruled out, if the surgical correction is appropriately completed.