Clinical characteristics and conservative treatment of perineal groove.

PURPOSE: Perineal groove is a rare congenital anomaly of the perineum, and only a few papers describing a small number of cases have been reported in the medical literature. This study aimed to evaluate the clinical characteristics and proper management of perineal groove. METHODS: We performed a retrospective review of 26 pediatric patients who were diagnosed with perineal groove between January 2012 and October 2018 at our institution. RESULTS: Perineal groove was extremely prevalent among the females: 25 of the 26 patients were girls, and only one patient was a boy. All the patients presented with an unusual lesion at the anus or perineum, but no symptoms related to this anomaly. The median age at the first visit to our clinic was 1.5 month (range, 0.3-11.4 month). Two types, complete and partial, were used to categorize the appearance of perineal groove. In a sample group, 55% (12/22) of the patients had complete perineal groove while 45% (10/22) had partial perineal groove. One patient underwent an anoplasty at another hospital following the diagnosis of an imperforate anus. One male and 13 female patients were followed beyond the age of two, and 10 patients (71%) showed a natural healing process. CONCLUSION: Perineal groove manifested as two types of appearance and showed excellent results with conservative treatment in our study. A natural healing process can be expected in the long-term follow-up. Perineal groove must be differentiated from other defects to avoid unnecessary surgical treatment. LEVELS OF EVIDENCE: Therapeutic Study, Level IV.

Association analysis of NOX5 polymorphisms with Hirschsprung disease.

BACKGROUND/PURPOSE: Hirschsprung disease (HSCR) is a developmental disease characterized by the absence of ganglion cells in the intestinal region. NADPH oxidase5 (NOX5) has been identified as one of the possible candidate genes for risk of Hirschsprung disease in our recent genome wide association study (GWAS). In this study, we performed a replication study to analyze the association of NOX5 polymorphisms with HSCR risk and conducted an extended analysis to investigate further associations for sub-groups and haplotypes. METHODS: A total of 23 NOX5 single nucleotide polymorphisms (SNPs) were genotyped in 187 HSCR patients and 283 unaffected controls. Statistical analysis was performed to examine the effects of genotype on risk of HSCR and HSCR subtype. RESULTS: Logistic regression analyses revealed that six SNPs (rs59355559, rs62010828, rs34990910, rs11856030, rs311905, and rs8024894) were associated with risk of HSCR (minimum p = 0.007 at rs62010828). Moreover, three SNPs (rs59355559, rs62010828, and rs8024894) were significantly associated with risk of long-segment HSCR (L-HSCR) subtype and 5 SNPs (rs59355559, rs62010828, rs34990910, rs11856030, and rs8024894) were found to be associated with risk of TCA subtype. CONCLUSION: Our results demonstrate that genetic variants in NOX5 have genetic effects on risk of HSCR, which may serve as useful preliminary information for further study. LEVELS OF EVIDENCE: Level III of prognosis study.

Laparoscopic repair of inguinal hernia in infants: Comparison with open hernia repair.

PURPOSE: This study aimed to evaluate the usefulness of laparoscopic repair of inguinal hernia (LR) in infants in comparison with open hernia repair (OR). METHODS: We retrospectively analyzed the clinical data of 465 infants treated for inguinal hernia from January 2006 to December 2015. Among them, 124 underwent LR and 341 underwent OR. RESULTS: In the OR group, 16.1% (55/341) primarily underwent bilateral inguinal hernia repair and 13.6% (42/308) subsequently developed metachronous contralateral inguinal hernia during follow-up. In the LR group, 75.8% (94/124) underwent primary bilateral inguinal hernia repair and only 1.6% (2/123) developed metachronous contralateral inguinal hernia. The mean operation times of unilateral inguinal hernia repair showed no statistical differences between LR and OR. However, the mean operation times of bilateral inguinal hernia repair were shorter in LR (39.8±10.4 vs. 51.1±14.4min, p<0.001). Postoperative recurrence and wound infection showed no statistical differences between the groups, but postoperative scrotal swelling was more common in OR (0.0% vs. 4.0%, p=0.006). CONCLUSION: LR in infants showed a lower incidence of metachronous hernia, shorter operation times, and better postoperative course than OR. LR could be considered the primary operation method in infants with inguinal hernia. LEVELS OF EVIDENCE: Prognosis Study, Retrospective Study, Level III.

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

Hirschsprung disease (HSCR) is the most common cause of neonatal intestinal obstruction. It is characterized by the absence of ganglia in the nerve plexuses of the lower gastrointestinal tract. So far, three common disease-susceptibility variants at the RET, SEMA3 and NRG1 loci have been detected through genome-wide association studies (GWAS) in Europeans and Asians to understand its genetic etiologies. Here we present a trans-ethnic meta-analysis of 507 HSCR cases and 1191 controls, combining all published GWAS results on HSCR to fine-map these loci and narrow down the putatively causal variants to 99% credible sets. We also demonstrate that the effects of RET and NRG1 are universal across European and Asian ancestries. In contrast, we detected a European-specific association of a low-frequency variant, rs80227144, in SEMA3 [odds ratio (OR) = 5.2, P = 4.7 × 10-10]. Conditional analyses on the lead SNPs revealed a secondary association signal, corresponding to an Asian-specific, low-frequency missense variant encoding RET p.Asp489Asn (rs9282834, conditional OR = 20.3, conditional P = 4.1 × 10-14). When in trans with the RET intron 1 enhancer risk allele, rs9282834 increases the risk of HSCR from 1.1 to 26.7. Overall, our study provides further insights into the genetic architecture of HSCR and has profound implications for future study designs.

A genome-wide association analysis of chromosomal aberrations and Hirschsprung disease.

Hirschsprung disease (HSCR) is a neurocristopathy characterized by the absence of intramural ganglion cells along variable lengths of the gastrointestinal tract. Although the RET proto-oncogene is considered to be the main risk factor for HSCR, only about 30% of the HSCR cases can be explained by variations in previously known genes including RET. Recently, copy number variation (CNV) and loss of heterozygosity (LOH) have emerged as new ways to understand human genomic variation. The goal of this present study is to identify new HSCR genetic factors related to CNV in Korean patients. In the genome-wide genotyping, using Illumina's HumanOmni1-Quad BeadChip (1,140,419 markers), of 123 HSCR patients and 432 unaffected subjects (total n = 555), a total of 8,188 CNVs (1 kb âˆ¼ 1 mb) were identified by CNVpartition. As a result, 16 CNV regions and 13 LOH regions were identified as associated with HSCR (minimum P = 0.0005). Two top CNV regions (deletions at chr6:32675155-32680480 and chr22:20733495-21607293) were successfully validated by additional real-time quantitative polymerase chain reaction analysis. In addition, 2 CNV regions (6p21.32 and 22q11.21) and 2 LOH regions (3p22.2 and 14q23.3) were discovered to be unique to the HSCR patients group. Regarding the large-scale chromosomal aberrations (>1 mb), 11 large aberrations in the HSCR patients group were identified, which suggests that they may be a risk factor for HSCR. Although further replication in a larger cohort is needed, our findings may contribute to the understanding of the etiology of HSCR.

Ultrasonographic assessment of optic nerve sheath diameter during pediatric laparoscopy.

This study investigated the extent of the raised intracranial pressure resulting from carbon dioxide (CO2) pneumoperitoneum by ultrasonographically measuring optic nerve sheath diameter (ONSD) in children undergoing laparoscopic surgery. Twenty-five children aged less than 9 y (53.1 ± 23.3 mo, mean ± standard deviation) and scheduled for an elective laparoscopic surgery participated. ONSD was assessed using ocular ultrasonography 10 min after induction of anesthesia (T0), 10 min after induction of CO2 pneumoperitoneum at 10 mm Hg intra-abdominal pressure (T1) and in an anesthetized state without CO2 pneumoperitoneum at the conclusion of the surgery (T2). During CO2 pneumoperitoneum, ONSD increased significantly compared with ONSD after anesthesia induction (T0: 4.3 ± 0.3 mm, T1: 4.6 ± 0.3 mm, p < 0.05). In all enrolled patients, any neurologic complications were not observed during the intra-operative or post-operative period. In children undergoing laparoscopic surgery, an increase in ONSD was ascertained during CO2 pneumoperitoneum, and thus the corresponding increase in intracranial pressure could be predicted.

Relationship between Anomalous Pancreaticobiliary Ductal Union and Pathologic Inflammation of Bile Duct in Choledochal Cyst.

PURPOSE: Choledochal cyst is a cystic dilatation of common bile duct. Although the etiology is presently uncertain, anomalous pancreaticobiliary ductal union (APBDU) is thought to be a major etiology of choledochal cyst. In this study, we analyzed the clinical and anatomical characteristics and pathologies of patients diagnosed with choledochal cyst in a single institute for 25 years. METHODS: A total of 113 patients, diagnosed with choledochal cyst and who received an operation in Severance Children's Hospital from January 1988 to May 2013, were included. Medical records were reviewed, including clinical and demographic data, surgical procedures. Abdominal ultrasonography, magnetic resonance cholangiopancreatography, and intraoperative cholangiography were used as diagnostic tools for evaluation and classification of choledochal cyst and the presence of anomalous pancreaticobiliary ductal union. Todani's classification, and relationship between APBDU and surgical pathology. RESULTS: Among 113 patients, 77 patients (68.1%) presented symptoms such as hepatitis, pancreatitis and/or cholecystitis. Eighty three patients (73.5%) had APBDU, and 94 patients (83.2%) showed inflammatory pathologic changes. APBDU, pathologic inflammation, and serological abnormalities such as hepatitis or pancreatitis showed a statistically significant correlation to one another. CONCLUSION: APBDU is thought to be one of the etiologic factors of choledochal cyst. It is related to the inflammatory changes in bile duct that can lead to the cystic dilatation.

Clinical characteristics and management of benign transient non-organic ileus of neonates: a single-center experience.

PURPOSE: The term benign transient non-organic ileus of neonates (BTNIN) is applied to neonates who present symptoms and plain radiographic findings of Hirschsprung's disease, but do not have aganglionic bowel and are managed well by conservative treatment. It can often be difficult to diagnose BTNIN because its initial symptoms are similar to those of Hirschsprung's disease. The aim of this study is to evaluate the clinical characteristics and proper treatment of BTNIN. MATERIALS AND METHODS: A retrospective review was made on the clinical data of 19 neonates who were treated for BTNIN between January 2008 and December 2011 at a single facility. RESULTS: Abdominal distension occurred in every patient (19/19). Other common symptoms included emesis (5/19), explosive defecation (5/19), and constipation (4/19). The vast majority of patients (15/19) experienced the onset of symptoms between 2 and 4 weeks of age. Radiograph findings from all of the patients were similar to Hirschsprung's disease. A barium study showed a transition zone in 33.4% (6/18) of the patients. However, rectal biopsy revealed ganglion cells in the distal rectum in 88.2% (15/17) of the patients, and anorectal manometry showed a normal rectoanal inhibitory reflex in 90% (9/10). All patients responded well to conservative treatment. Symptoms disappeared at the mean age of 4.9±1.0 months, and the abdominal radiographs normalized. CONCLUSION: BTNIN had an excellent outcome with conservative treatment, and must be differentiated from Hirschsprung's disease. A rectal biopsy and anorectal manometry were useful diagnostic tools in the differential diagnosis.

Feasibility of a laparoscopic approach for generalized peritonitis from perforated appendicitis in children.

PURPOSE: This study evaluated the feasibility of a laparoscopic approach in children with generalized peritonitis secondary to perforated appendicitis. MATERIALS AND METHODS: We retrospectively analyzed the medical records of patients who underwent laparoscopic appendectomy with drainage for generalized peritonitis secondary to perforated appendicitis at our hospital between September 2001 and April 2012. Laparoscopic outcomes were compared with outcomes of an open method for perforated appendicitis. RESULTS: Ninety-nine patients underwent laparoscopic appendectomy (LA) for generalized peritonitis from perforated appendicitis, and 87 patients underwent open appendectomy (OA) for perforated appendicitis. Wound infection was more common in the OA group (12.6%) than in the LA group (4.0%; p=0.032). The incidence of intestinal obstruction during long-term follow-up was significantly higher in the OA group (4.6% vs. 0.0% in the LA group; p=0.046). LA was possible in most patients for whom LA was attempted, with a conversion rate of 10.8%. Conversion to OA was affected by the preoperative duration of symptoms and the occurrence of intraoperative complications. CONCLUSION: LA is feasible for use in children with generalized peritonitis from perforated appendicitis, with reasonable open conversion and perioperative complication rates comparable to those of the OA group.

Calretinin and microtubule-associated protein-2 (MAP-2) immunohistochemistry in the diagnosis of Hirschsprung's disease.

BACKGROUND/PURPOSE: Identifying ganglion cells by rectal suction biopsy is a basic diagnostic tool for the diagnosis of Hirschsprung's disease (HD). However, the difficult interpretation of conventionally processed slides often necessitates ancillary staining methods. The aim of this study was to evaluate the usefulness of calretinin and microtubule-associated protein-2 (MAP-2) immunohistochemistry in the diagnosis of HD. METHODS: We analyzed 52 rectal suction biopsy specimens (37 from 15 HD patients and 15 from 7 non-HD patients) for ganglion cells with calretinin and MAP-2 immunohistochemistry. We also analyzed full-thickness, frozen biopsy samples obtained from 15 HD patients who underwent surgery utilizing calretinin and MAP-2 immunohistochemistry. RESULTS: Both calretinin and MAP-2 positively stained ganglion cells in the submucosal plexus of the ganglionic bowel but not aganglionic bowel. Calretinin usually stained ganglion cell cytoplasm and nuclei more intensely than MAP-2, which only stained cytoplasm. No nerve fiber staining in the submucosal layer was observed for either antibody. In 21.1% (11/52) of samples, calretinin and MAP-2 staining found ganglion cells which were reported not to have ganglion cells in the original surgical pathology reports. Immunohistochemical staining for calretinin using paraffin-embedded tissue sections after cryostat sections clearly demonstrated decreased staining intensity compared to MAP-2. CONCLUSION: Calretinin and MAP-2 are useful diagnostic markers for diagnosing HD in rectal suction biopsies. These complementary methods could ameliorate the diagnostic difficulties associated with HD.

Minimally invasive surgery in infants with congenital diaphragmatic hernia: outcome and selection criteria.

PURPOSE: The aim of the study was to determine clinical indications for performing minimally invasive surgery (MIS) with acceptable results by reviewing our experience in congenital diaphragmatic hernia (CDH) repair and comparing outcomes of MIS with open surgery. METHODS: Medical records of patients who underwent CDH repair were reviewed retrospectively between January 2008 and December 2012, and outcomes were compared between MIS and open repair of CDH. RESULTS: From 2008 to 2012, 35 patients were operated on for CDH. Among these patients, 20 patients underwent open surgery, and 15 patients underwent MIS. Patients with delayed presentations (60.0% [9/15] in the MIS group vs. 20.0% [4/20] in the open surgery group; P = 0.015) and small diaphragmatic defect less than 3 cm (80.0% [12/15] in the MIS group vs. 0.0% [0/20] in the open surgery group; P < 0.001) were more frequently in the MIS group than the open surgery group. All 10 patients who also had other anomalies underwent open surgery (P = 0.002). Moreover, nine patients who needed a patch for repair underwent open surgery (P = 0.003). Patients in the MIS group showed earlier enteral feeding and shorter hospital stays. There was no recurrence in either group. CONCLUSION: CDH repair with MIS can be suggested as the treatment of choice for patients with a small sized diaphragmatic defect, in neonates with stable hemodynamics and without additional anomalies, or in infants with delayed presen tation of CDH, resulting in excellent outcomes.

Long-term outcome of left- vs right-sided antegrade continence enema.

BACKGROUND/PURPOSE: This study compared long-term outcomes of left- vs right-sided antegrade continence enema (ACE) procedures. METHODS: We retrospectively analyzed medical records and performed a follow-up telephone survey of patients who underwent the ACE procedure at Severance Children's Hospital between 1999 and 2011. RESULTS: A total of 49 patients underwent 51 ACE procedures. The procedures were left-sided ACE in 25 patients (group 1) and right-sided in 26 patients (group 2), including 2 patients who underwent left-sided procedures a few years earlier. Fecal soiling was more common in group 1 than in group 2 (8/25 [32.0%] vs 1/26 [3.9%], respectively; P = .0109). Seven patients (28.0%) in group 1 had abdominal pain unrelieved by ACEs. Stomal reflux of fecal material was more frequent in group 1 than in group 2 (13/25 [52.0%] vs 0/26 [0%], respectively; P < .0001). Nonuse or infrequent use of ACE was more common in group 1 than in group 2 (11/25 [44.0%] vs 0/26 [0%], respectively; P < .0001). Patient satisfaction was higher in group 2 (P = .0015). CONCLUSIONS: In our experience using the sigmoid colon for left-sided ACE, right-sided ACE was superior to left-sided ACE in achieving fecal continence, resolving intractable constipation, and providing patient satisfaction.

Clinical characteristics and treatment of esophageal atresia: a single institutional experience.

PURPOSE: Treatment for esophageal atresia has advanced over several decades due to improvements in surgical techniques and neonatal intensive care. Subsequent to increased survival, postoperative morbidity has become an important issue in this disease. The aim of our study was to analyze our experience regarding the treatment of esophageal atresia. METHODS: We reviewed and analyzed the clinical data of patients who underwent surgery for esophageal atresia at Severance Children's Hospital from 1995 to 2010 regarding demographics, surgical procedures, and postoperative outcomes. RESULTS: Seventy-two patients had surgery for esophageal atresia. The most common gross type was C (81.9%), followed by type A (15.3%). Primary repair was performed in 52 patients. Staged operation was performed in 17 patients. Postoperative esophageal strictures developed in 43.1% of patients. Anastomotic leakages occurred in 23.6% of patients, and recurrence of tracheoesophageal fistula was reported in 8.3% of patients. Esophageal stricture was significantly associated with long-gap (≥3 cm or three vertebral bodies) atresia (P = 0.042). The overall mortality rate was 15.3%. The mortality in patients weighing less than 2.5 kg was higher than in patients weighing at least 2.5 kg (P = 0.001). During the later period of this study, anastomotic leakage and mortality both significantly decreased compared to the earlier study period (P = 0.009 and 0.023, respectively). CONCLUSION: The survival of patients with esophageal atresia has improved over the years and the rate of anastomotic leakage has been significantly reduced. However, overall morbidities related to surgical treatment of esophageal atresia still exists with high incidence.

Lessons and tips from the experience of pediatric robotic choledochal cyst resection.

PURPOSE: The laparoscopic surgery for a choledochal cyst in children is technically challenging because of its high degree of complexity despite its possibility. In an attempt to overcome this laparoscopic weakness and to facilitate the difficult steps in the minimally invasive surgery for choledochal cyst resection in children, we have performed the robot-assisted resection of the choledochal cyst. The aim of this study is to report lessons and tips obtained from our experience of the robot-assisted choledochal cyst resection in children. PATIENTS AND METHODS: From July 2008 to October 2011, we have attempted robot-assisted resections of choledochal cyst for 14 children using the da Vinci Robotic Surgical System(®) (Intuitive Surgical, Sunnyvale, CA). We analyzed retrospectively reviewed medical records for patients' clinical characteristics, operative methods, and postoperative outcomes including operative time, hospital days, and complications. RESULTS: In 3 early consecutive cases, we encountered serious technical problems and complications. However, after the operator underwent the robot system off-site training program, complete resection of the choledochal cyst and Roux-en-Y hepaticojejunostomy were performed successfully without difficulty and any complication in the 11 later consecutive cases. The important technical developments of our late-period operations include placing the patient's body above the operative table, performing the extracorporeal jejunojejunostomy through an umbilical incision, omitting the operative cholangiography with magnetic resonance cholangiopancreatography substitution, exposure of the porta hepatis by lateral retractions of the gallbladder and the falciform ligament with anchoring sutures to the abdominal wall, and using a third robotic arm for counter-traction of tissues for careful dissection. CONCLUSION: We believe that the techniques of pediatric robotic choledochal cyst resection have evolved from the previous experiences to be safer and easier.

Anesthetic management for neonate with giant cystic hygroma involved upper airway -A case report-.

Significant differences exist between neonatal and adult airways. Anesthetic management of the airway may be challenging in neonate and young infant with large neck mass because these patients are at risk for sudden complete airway occlusion resulting in hypoventilation and hypoxemia. We experienced a 30-day-old baby presented with large cystic hygroma on the left side of neck. This mass was infiltrated in pharynx and large enough to disturb swallowing and breathing, and was not reduced despite of sclero-therapy. Therefore he was decided to get surgical removal. During the gaseous induction with sevoflurane, spontaneous respiration was maintained because difficulty was encountered with intubation. Intraoperatively, the endotracheal tube was dislodged unexpectedly because vigorous surgical traction. Postoperatively the baby was extubated 2 day after operation, and suffered from transient facial nerve palsy and continuous discharge from surgical wound. He was administered ICU for a long time.

Slide thyrocricotracheoplasty for the treatment of high-grade subglottic stenosis in children.

BACKGROUND/PURPOSE: The aim of this study was to describe our early experiences with a novel surgical procedure, "slide thyrocricotracheoplasty," for the treatment of high-grade subglottic stenosis in children. PATIENTS AND METHODS: A retrospective analysis was performed in 7 children who underwent slide thyrocricotracheoplasty for high-grade subglottic stenosis from 1996 to 2009. RESULTS: Three patients were male and four were female. The etiology of subglottic stenosis was congenital (n = 4) or acquired (n = 3). All patients had undergone a tracheostomy before slide thyrocricotracheoplasty. Median age at operation was 16 months (range, 1-25 months). The median follow-up period after definitive operation was 58 months (range, 13-156 months). There was one case requiring debridement and re-anastomosis of slide thyrocricotracheoplasty site because of anastomotic disruption caused by a methicillin-resistant Staphylococcus aureus infection of the cartilage and one case requiring a minor operation to remove granulation tissue. At final follow-up, all patients did not have any airway cannulation with satisfactory functional outcome in terms of breathing and swallowing. All except one were noted to have acceptable vocal function. The patient with unsatisfactory vocal function continued to receive voice rehabilitation treatment. CONCLUSIONS: Slide thyrocricotracheoplasty offers an efficient surgical treatment option with minimal morbidity for high-grade subglottic stenosis in children.

Clinical characteristics and treatment of perianal abscess and fistula-in-ano in infants.

PURPOSE: The aims of this study were to evaluate the clinical characteristics of perianal abscess and fistula-in-ano in infants and to identify factors that affected the clinical outcomes. METHOD: The authors retrospectively reviewed the clinical data of 112 infants who were treated for perianal abscess and fistula-in-ano by a single pediatric surgeon from January 2006 to December 2008. RESULTS: All patients were male and the mean age of infants presented to our hospital was 6.0 ± 4.5 months. One hundred one patients (90.2%) had 1 or 2 perianal lesions, and 76 (67.9%) had lesions at the 3 and/or 9-o'clock directions. The use of oral antibiotics did not improve or aggravate the lesions in 29 of 37 cases. Ninety-seven patients (86.6%) were cured by conservative treatment with a mean duration of 5.2 ± 3.9 months from the onset of the disease to the cure. The mean age of curing was 9.0 ± 4.9 months. Feeding formula change showed improvement of stooling in 38 (62.3%) of 61 patients but did not affect the duration of conservative treatment. Multiple linear analysis revealed that the presence of multiple lesions was a significant independent variable (P = .001) for the duration of conservative treatment, but age of the onset and location of the lesion were not. Twelve patients (10.7%) underwent fistulectomy at a mean age of 15.0 ± 5.1 months. None of the patients had recurrences after operation for the mean follow-up period of 23.7 ± 11.7 months. CONCLUSION: Conservative treatment of perianal abscess and fistula-in-ano has an excellent outcome and could be the first choice of treatment of these diseases.

Infantile vulvar abscess with a normal anus: a suspicious sign of rectovestibular fistula.

PURPOSE: We investigated whether infantile vulvar abscesses are predictable features of rectovestibular fistula with a normal anus. MATERIALS AND METHODS: A retrospective analysis of five infants with vulvar abscesses and rectovestibular fistulae with normal anuses was performed. RESULTS: Four cases had a left vulvar abscess, and in one case the vulvar abscess was on the right side. All caregivers reported passage of stool from the vagina. The fistulae were almost uniformly located from the vestibule to the rectum above the anal dentate line, observable by visual inspection and probing under anesthesia. The first two cases were treated with division and closure of the fistulae after a diverting loop colostomy, and the remaining three cases with fistulotomy and curettage. There was no recurrence during the median follow-up period of 38 months. CONCLUSION: This unique rectovestibular fistula should be suspected in female infants with vulvar abscesses, especially when parents report passage of stool from the vagina. Fistulotomy and curettage may be an initial treatment and effective as a temporary diverting colostomy and delayed repair of the fistula.

Structural and biomechanical characteristics of the diaphragmatic tendon in infancy and childhood: an initial analysis.

BACKGROUND: Engineered tendon grafts have been shown, experimentally, to be promising alternatives for partial diaphragmatic replacement. This study was aimed at determining the cellularity, extracellular matrix composition, and biomechanical characteristics of the diaphragmatic tendon in infants and children to be used as a reference for proper diaphragmatic graft engineering. METHODS: The left diaphragmatic tendon was procured at autopsy from 13 patients divided into 2 groups. Group I (n = 9) consisted of newborns and infants. Group II (n = 4) consisted of children and adolescents. Samples underwent quantitative assays for total DNA, glycosaminoglycans, collagen, and elastin contents. Biomechanical measurements included modular and ultimate tensile strength analyses. Statistical comparisons were by the 2-sample Student's t test. RESULTS: Group I showed significantly higher levels of total DNA, glycosaminoglycans, collagen, and elastin than group II. Conversely, group II tended to have higher modular and ultimate tensile strengths. CONCLUSIONS: In neonates and infants, the diaphragmatic tendon has increased cell density and higher levels of major extracellular matrix components than in older children, in whom the diaphragmatic tendon tends to have higher tensile strength. Engineered diaphragmatic constructs should be tailored to the distinct anatomical, functional, and biomechanical characteristics of the diaphragmatic tendon at different age groups.

Spinal dysraphism with anorectal malformation: lumbosacral magnetic resonance imaging evaluation of 120 patients.

PURPOSE: We evaluated the prevalence of spinal dysraphism (SD) in patients with anorectal malformation (ARM) by magnetic resonance imaging (MRI). METHODS: From January 2002 to March 2009, 120 patients with ARM who underwent anorectal reconstruction were evaluated for SD with sacral plain film, spinal ultrasonography (US), and lumbosacral MRI. We adopted Krickenbeck international classification of ARM. RESULTS: Spinal dysraphism was present in 41 (34.2%) of 120 patients with ARM, 3 (13.0%) of 23 patients with perineal fistula, 7 (29.2%) of 24 patients with vestibular fistula, 4 (36.4%) of 11 patients with rectovesical fistula, 18 (40.9%) of 44 patients with rectourethral fistula, and 9 (60.0%) of 15 patients with cloacal anomaly (P = .04). Among 41 patients having SD detected by MR, 26 patients (26/41; 63.4%) underwent detethering surgery for tethered spinal cord. The mean sacral ratio (SR) in patients who underwent detethering surgery (0.54 +/- 0.19) was significantly lower than in patients who did not undergo detethering surgery (0.69 +/- 0.13; P < .001). The optimal cutoff for the SR value predicting SD requiring detethering surgery was 0.605, with sensitivity of 65.4% and specificity of 77.7%. CONCLUSIONS: Spinal dysraphism is common in patients with ARM, and its prevalence is higher in patients with complex ARM. Spinal anomalies can occur even with benign types of ARM and, therefore, that all patients should be screened. Magnetic resonance imaging is useful in detecting occult SD that may be missed by conventional radiologic evaluation, physical examination, and spinal US. We further recommend a lumbosacral MRI examination in those whose SR is lower than 0.6.