Clinical Differentiation between a Normal Anus, Anterior Anus, Congenital Anal Stenosis, and Perineal Fistula: Definitions and Consequences-The ARM-Net Consortium Consensus.

In the past, an anteriorly located anus was often misdiagnosed and treated as an anorectal malformation (ARM) with a perineal fistula (PF). The paper aims to define the criteria for a normal anus, an anterior anus (AA) as an anatomic variant, and milder types of ARM such as congenital anal stenosis (CAS) and PF. An extensive literature search was performed by a working group of the ARM-Net Consortium concerning the subject "Normal Anus, AA, and mild ARM". A consensus on definitions, clinical characteristics, diagnostic management, and treatment modalities was established, and a diagnostic algorithm was proposed. The algorithm enables pediatricians, midwives, gynecologists, and surgeons to make a timely correct diagnosis of any abnormally looking anus and initiate further management if needed. Thus, the routine physical inspection of a newborn should include the inspection of the anus and define its position, relation to the external sphincter, and caliber. A correct diagnosis and use of the presented terminology will avoid misclassifications and allow the initiation of correct management. This will provide a reliable comparison of different therapeutic management and outcomes of these patient cohorts in the future.

Bowel function and associated risk factors at preschool and early childhood age in children with anorectal malformation type rectovestibular fistula: An ARM-Net consortium study.

BACKGROUND: Outcome of patients operated for anorectal malformation (ARM) type rectovestibular fistula (RVF) is generally considered to be good. However, large multi-center studies are scarce, mostly describing pooled outcome of different ARM-types, in adult patients. Therefore, counseling parents concerning the bowel function at early age is challenging. Aim of this study was to evaluate bowel function of RVF-patients at preschool/early childhood age and determine risk factors for poor functional outcome. METHODS: A multi-center cohort study was performed. Patient characteristics, associated anomalies, sacral ratio, surgical procedures, post-reconstructive complications, one-year constipation, and Bowel Function Score (BFS) at 4-7 years of follow-up were registered. Groups with below normal (BFS < 17; subgroups 'poor' ≤ 11, and 'fair' 11 < BFS < 17) and good outcome (BFS ≥ 17) were formed. Univariable analyses were performed to detect risk factors for outcome. RESULTS: The study included 111 RVF-patients. Median BFS was 16 (range 6-20). The 'below normal' group consisted of 61 patients (55.0%). Overall, we reported soiling, fecal accidents, and constipation in 64.9%, 35.1% and 70.3%, respectively. Bowel management was performed in 23.4% of patients. Risk factors for poor outcome were tethered cord and low sacral ratio, while sacral anomalies, low sacral ratio, prior enterostomy, post-reconstructive complications, and one-year constipation were for being on bowel management. CONCLUSIONS: Although median BFS at 4-7 year follow-up is nearly normal, the majority of patients suffers from some degree of soiling and constipation, and almost 25% needs bowel management. Several factors were associated with poor bowel function outcome and bowel management. LEVEL OF EVIDENCE: Level III.

Cardiorespiratory performance and locomotor function of patients with anorectal malformations.

The aim of this study was to assess whether adolescents following anorectal malformation repair have a decreased cardiorespiratory performance capacity and impaired motor skills. All eligible children treated for ARMs between 2000 and 2014 were invited to participate in a prospective study consisting of a clinical examination, evaluation of Bowel function and Quality of Life, spirometry, spiroergometry and assessment of the motor activity. The results were compared to a healthy age- and sex-matched control group. There was no statistically significant difference in height, weight, BMI, muscle mass or body fat percentage between the study and the control group. Nine out of 18 patients (50%) had an excellent functional outcome with a normal Bowel Function Score. Spirometry revealed no significant differences between ARM patients and controls, four patients showed a ventilation disorder. Spiroergometry revealed a significantly lower relative performance capacity and the overall rating of the motor activity test showed significantly decreased grades in ARM patients. ARM patients were affected by an impaired cardiopulmonary function and decreased motor abilities. Long-term examinations consisting of routine locomotor function evaluation and spiroergometry are advisable to detect impaired cardiopulmonary function and to prevent a progression of associated complications and related impaired quality of life.

Perineal Groove: An Anorectal Malformation Network, Consortium Study.

OBJECTIVE: To review the Anorectal Malformation Network experience with perineal groove (PG) focusing on its clinical characteristics and management. STUDY DESIGN: Data on patients with PG managed at 10 participating Anorectal Malformation Network centers in 1999-2019 were collected retrospectively by questionnaire. RESULTS: The cohort included 66 patients (65 females) of median age 1.4 months at diagnosis. The leading referral diagnosis was anal fissure (n = 20 [30.3%]): 23 patients (34.8%) had anorectal malformations. Expectant management was practiced in 47 patients (71.2%). Eight (17%) were eventually operated for local complications. The median time to surgery was 14 months (range, 3.0-48.6 months), and the median age at surgery was 18.3 months (range, 4.8-58.0 months). In the 35 patients available for follow-up of the remaining 39 managed expectantly, 23 (65.7%) showed complete or near-complete self-epithelization by a mean age 15.3 months (range, 1-72 months) and 4 (11.4%) showed partial self-epithelization by a mean age 21 months (range, 3-48 months). Eight patients showed no resolution (5 were followed for ≤3 months). Nineteen patients (28.7%) were primarily treated with surgery. In total, 27 patients were operated. Dehiscence occurred in 3 of 27 operated patients (11.1%). CONCLUSIONS: PG seems to be an underestimated anomaly, frequently associated with anorectal malformations. Most cases heal spontaneously; therefore, expectant management is recommended. When associated with anorectal malformations requiring reconstruction, PG should be excised in conjunction with the anorectoplasty.

What do pediatric surgeons think about sexual issues in dealing with patients with anorectal malformations? The ARM-Net consortium members' opinion.

PURPOSE: Since pediatric surgeons aim to follow their patients with anorectal malformations (ARM) into adulthood the aim of this study was to investigate how pediatric surgeons deal with sexual issues related to ARM. METHODS: In 2018, a questionnaire was developed by the working group "Follow-up and sexuality" of the ARM-Net consortium and sent to all consortium-linked pediatric surgeons from 31 European pediatric surgical centers. Obtained data were statistically analyzed. RESULTS: Twenty-eight of 37 pediatric surgeons (18 males/10 females) answered the questionnaire. The majority of pediatric surgeons (82%) think they should talk about sexual issues with their patient. More than 50% of pediatric surgeons do not feel at all or only moderately confident discussing the topic of sexuality. Most pediatric surgeons require more support (96%) and wish to be trained in sexuality and sexual issues (78%) to feel confident towards their ARM-patients/parents. For optimal care, sexual issues with ARM-patients should be managed by a multidisciplinary team. CONCLUSIONS: Pediatric surgeons feel that sexuality is an important issue for their ARM-patients, which they are primarily responsible of but should be managed in concert with a multidisciplinary team. A training in sexuality is wished to feel more confident about this specific issue.

Laparoscopic posterior rectopexy (Well's procedure) for full-thickness rectal prolapse following laparoscopic repair of an anorectal malformation: A case report.

INTRODUCTION: Intractable full-thickness rectal prolapse (IRP) unresponsive to conservative treatment remains a major problem after anorectoplasty for high or intermediate anorectal malformation (ARM). Surgical management must aim for a permanent fixation of the rectum to the presacral fascia. While in children with IRP following ARM repair the optimal procedure has not been established yet, laparoscopic posterior mesh-rectopexy (Well's procedure) has demonstrated efficacy in adults. PRESENTATION OF CASE: A male infant with intermediate ARM received laparoscopic-assisted anorectal pull-through at the age of 4 months. Three months later he developed mucosal prolapse and received multimodal conservative treatment. Because of progression into a full-thickness RP with ulcerations, the parents opted for surgical management. Well's procedure was performed at the age of 4 years. Using four ports, the rectum was circumferentially mobilized down to the pelvic floor and pulled inside. A 5 × 5 cm prolene mesh was tacked to the sacrum, enveloped posteriorly 270° around the rectum, fixed with interrupted prolene sutures on both edges and carefully covered with peritoneum. Any redundant external mucosa was excised from a perineal approach. There were no intra- and postoperative complications. Within 1.5 years of follow-up the boy had voluntary bowel movements and was toilet trained. No prolapse recurrence could be observed nor provoked. DISCUSSION: We present the first pediatric case of IRP secondary to laparoscopic ARM repair which has been successfully treated by combined Well's procedure and perineal mucosal resection. CONCLUSION: Well's procedure is a successful technique and should be further explored in children with ARM and IRP.

Rarity among benign gastric tumors: Plexiform fibromyxoma - Report of two cases.

Plexiform fibromyxoma is a very rare mesenchymal tumor of the stomach, found almost exclusively in the antrum/pylorus region. The most common presenting symptoms are anemia, hematemesis, nausea and unintentional weight loss, without sex or age predilection. We describe here two cases of plexiform fibromyxoma, involving a 16-year-old female and a 34-year-old male. Both patients underwent complete resection (R0) by distal gastrectomy and retrocolic gastrojejunostomy (according to Billroth 2); for both, the postoperative course was uneventful. Histology showed multiple intramural and subserosal nodules with characteristic plexiform growth, featuring bland spindle cells situated in an abundant myxoid stroma with low mitotic activity. Immunohistochemistry showed α-smooth muscle actin-positive spindle cells, focal positivity for CD10, and negative staining for KIT, DOG1, CD34, S100, ß-catenin, STAT-6 and anaplastic lymphoma kinase. One of the cases showed focal positivity for h-caldesmon and desmin. Upon follow-up, no sign of disease was found. In the differential diagnosis of plexiform fibromyxoma, it is important to exclude the more common gastrointestinal stromal tumors as they have greater potential for aggressive behavior. Other lesions, like neuronal and vascular tumors, inflammatory fibroid polyps, abdominal desmoid-type fibromatosis, solitary fibrous tumors and smooth muscle tumors, must also be excluded.

Assessment of pharmacokinetics for microvessel proliferation by DCE-MRI for early detection of physeal bone bridge formation in an animal model.

OBJECTIVES: Bone bridge formation occurs after physeal lesions and can lead to growth arrest if not reversed. Previous investigations on the underlying mechanisms of this formation used histological methods. Therefore, this study aimed to apply a minimally invasive method using dynamic contrast-enhanced MRI (DCE-MRI). MATERIALS AND METHODS: Changes in functional parameters related to the microvessel system were assessed in a longitudinal study of a cohort of an animal model applying a reference region model. The development of morphology of the injured physis was investigated with 3D high-resolution MRI. To acquire complementary information for MRI-related findings qRT-PCR and immunohistochemical data were acquired for a second cohort of the animal model. RESULTS: The evaluation of the pharmacokinetic parameters showed a first rise of the transfer coefficient 7 days post-lesion and a maximum 42 days after operation. The analysis of the complementary data showed a connection of the first rise to microvessel proliferation while the maximum value was linked to bone remodeling. CONCLUSION: The pharmacokinetic analysis of DCE-MRI provides information on a proliferation of microvessels during the healing process as a sign for bone bridge formation. Thereby, DCE-MRI could identify details, which up to now required analyses of highly invasive methods.

Time-Dependent Changes in T1 during Fracture Healing in Juvenile Rats: A Quantitative MR Approach.

Quantitative magnetic resonance imaging (qMRI) offers several advantages in imaging and determination of soft tissue alterations when compared to qualitative imaging techniques. Although applications in brain and muscle tissues are well studied, its suitability to quantify relaxation times of intact and injured bone tissue, especially in children, is widely unknown. The objective observation of a fracture including its age determination can become of legal interest in cases of child abuse or maltreatment. Therefore, the aim of this study is the determination of time dependent changes in intact and corresponding injured bones in immature rats via qMRI, to provide the basis for an objective and radiation-free approach for fracture dating. Thirty-five MR scans of 7 Sprague-Dawley rats (male, 4 weeks old, 100 ± 5 g) were acquired on a 3T MRI scanner (TimTrio, Siemens AG, Erlangen, Germany) after the surgical infliction of an epiphyseal fracture in the tibia. The images were taken at days 1, 3, 7, 14, 28, 42 and 82 post-surgery. A proton density-weighted and a T1-weighted 3D FLASH sequence were acquired to calculate the longitudinal relaxation time T1 of the fractured region and the surrounding tissues. The calculation of T1 in intact and injured bone resulted in a quantitative observation of bone development in intact juvenile tibiae as well as the bone healing process in the injured tibiae. In both areas, T1 decreased over time. To evaluate the differences in T1 behaviour between the intact and injured bone, the relative T1 values (bone-fracture) were calculated, showing clear detectable alterations of T1 after fracture occurrence. These results indicate that qMRI has a high potential not only for clinically relevant applications to detect growth defects or developmental alterations in juvenile bones, but also for forensically relevant applications such as the dating of fractures in cases of child abuse or maltreatment.

Long-term results of total colonic agangliosis patients treated by preservation of the aganglionic right hemicolon and the ileo-cecal valve.

PURPOSE: In 1989, Sauer introduced a technique to treat patients with total colonic aganglionosis (TCA) where he preserved the ileo-cecal valve and the right hemicolon to retain water and electrolyte absorption. This report examines the long-term outcome of patients who underwent this technique. METHODS: All TCA patients treated between 1981 and 2005 according to Sauer were invited in 2013 to participate in a questionnaire survey to assess their long-term outcome focusing on bowel function and quality of life (QoL), using standardized scores. RESULTS: Of eight TCA patients (2 females, 6 males), seven participated in the follow-up survey (median follow-up time 13.5 years (range 8-31.6). Early postoperative complications involving bouts of enterocolitis in 3 and anal strictures in 5 patients ceased with age. Bowel movements ranged from median 3-4 times a day (range 1-8). Bowel-function score (BFS) was reduced in 6 patients (median 16 points, range 8-19, max 20), who also reported soiling incidences with the need for night-time protective aids in two. QoL assessment, however, documented a good outcome with a median score of 10 points (range 7-13, max 13). CONCLUSION: This long-term investigation of TCA patients treated according to Sauer's technique documented a good QoL despite a reduced BFS.

Imaging assessment of renal injuries in children and adolescents: CT or ultrasound?

BACKGROUND: Since the introduction of the ALARA ("as low as reasonably achievable") concept, ultrasound (US) has been progressively advocated for paediatric diagnostic imaging. This study aimed to analyse the role and accuracy of US in paediatric renal trauma. METHODS: From 1999 to 2009, the tertiary-care-hospital database was retrospectively evaluated for renal trauma with regards to aetiology, type of injury, diagnostics, management and outcome. RESULTS: Forty-seven patients (29 males, 18 females; median age=14years, range 1-17 years) were identified. US was initially applied in 45 patients with correct results in 86.6%. Computed tomography (CT) was performed in 16 patients in the acute trauma setting - complementary to US in 14 cases, with a diagnostic accuracy of 93%. Most renal injuries were grade I° (n=30), followed by grade III° (n=8), IV° (n=5), and II°/V° (n=2 each). All patients were initially managed conservatively and followed by US. Clinical deterioration necessitated surgery in four patients (2 nephrectomies, 1 partial nephrectomy, 1 urinoma drainage). The outcome was generally favourable with a renal preservation rate of 95%. CONCLUSION: With respect to the ALARA principle, US can be safely and reliably applied as the first-line diagnostic imaging technique and for follow-up for suspected traumatic paediatric renal injuries.